#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
KLHL17	339451	broad.mit.edu	37	1	900538	900538	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:900538C>T	ENST00000338591.3	+	12	2003	c.1896C>T	c.(1894-1896)tcC>tcT	p.S632S	PLEKHN1_ENST00000379410.3_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	632	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCCATCCTCCCCGACGCTGT	0.667																																						uc001aca.1		NA																	0					0						c.(1894-1896)TCC>TCT		kelch-like 17							63.0	49.0	54.0					1																	900538		2200	4296	6496	SO:0001819	synonymous_variant	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:900538C>T	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1896C>T	1.37:g.900538C>T						KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	p.S632S	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	12	2003	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	632			Interaction with F-actin (By similarity).		Q5SV94	Silent	SNP	ENST00000338591.3	37	c.1896C>T	CCDS30550.1																																																																																				0.667	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		7	17	0	0	0	0	7	17				
CCNL2	81669	broad.mit.edu	37	1	1322774	1322774	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:1322774G>A	ENST00000400809.3	-	11	1405	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.S245F	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	467					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TCGAGAACGGGAAGAACTCCG	0.572																																						uc001afi.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1399-1401)TCC>TTC		cyclin L2 isoform A							88.0	99.0	96.0					1																	1322774		2203	4296	6499	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1322774G>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.1400C>T	1.37:g.1322774G>A	ENSP00000383611:p.Ser467Phe					CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.S245F|CCNL2_uc001afg.1_Missense_Mutation_p.S245F|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	p.S467F	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	11	1432	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	467					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.1400C>T	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079956	0.55753	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T	0.28255	1.62	5.38	5.38	0.77491	.	0.178504	0.39759	N	0.001266	T	0.56804	0.2010	M	0.76328	2.33	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	T	0.53961	-0.8364	10	0.44086	T	0.13	.	18.3134	0.90208	0.0:0.0:1.0:0.0	.	467	Q96S94	CCNL2_HUMAN	F	467;294	ENSP00000383611:S467F	ENSP00000383611:S467F	S	-	2	0	CCNL2	1312637	1.000000	0.71417	0.274000	0.24659	0.193000	0.23685	7.247000	0.78257	2.799000	0.96334	0.650000	0.86243	TCC		0.572	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		27	83	0	0	0	0	27	83				
CCNL2	81669	broad.mit.edu	37	1	1322852	1322852	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:1322852G>A	ENST00000400809.3	-	11	1327	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.S219F	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	441					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCGAATCTCAGAGCCTTTGTA	0.642																																						uc001afi.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1321-1323)TCT>TTT		cyclin L2 isoform A							27.0	34.0	32.0					1																	1322852		2202	4295	6497	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1322852G>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.1322C>T	1.37:g.1322852G>A	ENSP00000383611:p.Ser441Phe					CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.S219F|CCNL2_uc001afg.1_Missense_Mutation_p.S219F|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	p.S441F	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	11	1354	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	441					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.1322C>T	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092245	0.55968	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T	0.22539	1.95	5.38	5.38	0.77491	.	0.313533	0.27294	N	0.020033	T	0.43612	0.1255	L	0.54323	1.7	0.53688	D	0.999978	D	0.67145	0.996	D	0.74023	0.982	T	0.14504	-1.0470	10	0.59425	D	0.04	.	18.3134	0.90208	0.0:0.0:1.0:0.0	.	441	Q96S94	CCNL2_HUMAN	F	441;268	ENSP00000383611:S441F	ENSP00000383611:S441F	S	-	2	0	CCNL2	1312715	1.000000	0.71417	0.995000	0.50966	0.400000	0.30750	6.663000	0.74431	2.799000	0.96334	0.650000	0.86243	TCT		0.642	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		9	28	0	0	0	0	9	28				
PRKCZ	5590	broad.mit.edu	37	1	2103808	2103808	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:2103808C>T	ENST00000400921.2	+	10	1400	c.717C>T	c.(715-717)atC>atT	p.I239I	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.I239I	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	422					actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CCCCCGAAATCCTGCGGGGAG	0.647																																						uc001aiq.2		NA																	0				central_nervous_system(4)|large_intestine(2)	6						c.(1264-1266)ATC>ATT		protein kinase C, zeta isoform 1							55.0	48.0	51.0					1																	2103808		2203	4300	6503	SO:0001819	synonymous_variant	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2103808C>T	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.717C>T	1.37:g.2103808C>T						PRKCZ_uc001air.2_Silent_p.I239I|PRKCZ_uc010nyw.1_Silent_p.I318I|PRKCZ_uc001ais.2_Silent_p.I239I|PRKCZ_uc009vla.2_Silent_p.I246I|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Silent_p.I270I	p.I422I	NM_002744	NP_002735	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	13	1427	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	422			Protein kinase.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP	ENST00000400921.2	37	c.1266C>T	CCDS41229.1																																																																																				0.647	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		4	12	0	0	0	0	4	12				
SKI	6497	broad.mit.edu	37	1	2234517	2234518	+	Missense_Mutation	DNP	GG	GG	AA	rs200874294		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:2234517_2234518GG>AA	ENST00000378536.4	+	2	1142_1143	c.1070_1071GG>AA	c.(1069-1071)cGG>cAA	p.R357Q	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	357					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		AGCTGGCTGCGGACCTTGGCCG	0.639																																					Ovarian(177;144 1678 13697 20086 27838 40755)	uc001aja.3		NA																	0				lung(1)|central_nervous_system(1)	2						c.(1069-1071)CGG>CAA		v-ski sarcoma viral oncogene homolog																																				SO:0001583	missense	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2234517_2234518GG>AA	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	Exception_encountered	1.37:g.2234517_2234518delinsAA	ENSP00000367797:p.Arg357Gln						p.R357Q	NM_003036	NP_003027	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	2	1142_1143	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		357					Q5SYT7	Missense_Mutation	DNP	ENST00000378536.4	37	c.1070_1071GG>AA	CCDS39.1																																																																																				0.639	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		16	45	0	0	0	0	16	45				
PRDM16	63976	broad.mit.edu	37	1	3313153	3313154	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:3313153_3313154GG>AA	ENST00000270722.5	+	5	721_722	c.672_673GG>AA	c.(670-675)ctGGac>ctAAac	p.D225N	PRDM16_ENST00000378398.3_Missense_Mutation_p.D226N|PRDM16_ENST00000378391.2_Missense_Mutation_p.D225N|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.D226N|PRDM16_ENST00000514189.1_Missense_Mutation_p.D226N|PRDM16_ENST00000442529.2_Missense_Mutation_p.D225N|PRDM16_ENST00000441472.2_Missense_Mutation_p.D225N			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	225					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGCCCGGCCTGGACGGTAAGAC	0.634			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(670-675)CTGGAC>CTAAAC		PR domain containing 16 isoform 1																																				SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3313153_3313154GG>AA	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	Exception_encountered	1.37:g.3313153_3313154delinsAA	ENSP00000270722:p.Asp225Asn					PRDM16_uc001akc.2_Missense_Mutation_p.D225N|PRDM16_uc001akd.2_Missense_Mutation_p.D225N|PRDM16_uc001ake.2_Missense_Mutation_p.D225N|PRDM16_uc009vlh.2_5'UTR	p.D225N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	5	752_753	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	225					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	DNP	ENST00000270722.5	37	c.672_673GG>AA	CCDS41236.2																																																																																				0.634	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		4	6	0	0	0	0	4	6				
PLEKHG5	57449	broad.mit.edu	37	1	6536025	6536025	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:6536025C>T	ENST00000400915.3	-	4	349	c.283G>A	c.(283-285)Gag>Aag	p.E95K	PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E39K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E118K|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E116K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E76K|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.E116K|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E108K|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E39K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E39K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E39K|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E39K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E39K	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	95	Poly-Glu.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTCCTCCTCCTCCAAGTCC	0.642											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ano.1		NA																	0				liver(1)	1						c.(283-285)GAG>AAG		pleckstrin homology domain containing family G							89.0	90.0	89.0					1																	6536025		2203	4300	6503	SO:0001583	missense	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6536025C>T	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.283G>A	1.37:g.6536025C>T	ENSP00000383706:p.Glu95Lys		OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	634	PLEKHG5_uc001ann.1_Missense_Mutation_p.E76K|PLEKHG5_uc001anq.1_Missense_Mutation_p.E116K|PLEKHG5_uc001anp.1_Missense_Mutation_p.E116K|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E108K|PLEKHG5_uc001ank.1_Missense_Mutation_p.E39K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E39K|PLEKHG5_uc001anl.1_Missense_Mutation_p.E39K|PLEKHG5_uc001anm.1_Missense_Mutation_p.E39K	p.E95K	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	4	384	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	95			Poly-Glu.		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	c.283G>A	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275737	0.80580	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.74315	-0.8;-0.83;-0.83;-0.77;-0.68;-0.77;-0.83;-0.83;-0.79;-0.83;-0.81;-0.83	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	L	0.59436	1.845	0.54753	D	0.999986	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.993;0.999;0.997	D	0.84540	0.0638	10	0.66056	D	0.02	-12.898	13.9186	0.63916	0.0:1.0:0.0:0.0	.	108;39;116;116;95	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	K	116;39;39;95;116;76;39;39;108;39;118;39	ENSP00000366977:E116K;ENSP00000344570:E39K;ENSP00000383704:E39K;ENSP00000383706:E95K;ENSP00000366969:E116K;ENSP00000366961:E76K;ENSP00000366957:E39K;ENSP00000366954:E39K;ENSP00000441445:E108K;ENSP00000366966:E39K;ENSP00000439625:E118K;ENSP00000437710:E39K	ENSP00000344570:E39K	E	-	1	0	PLEKHG5	6458612	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	3.711000	0.54868	2.300000	0.77407	0.313000	0.20887	GAG		0.642	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		14	47	0	0	0	0	14	47				
ZBTB48	3104	broad.mit.edu	37	1	6640991	6640991	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:6640991G>A	ENST00000377674.4	+	2	480	c.322G>A	c.(322-324)Gta>Ata	p.V108I		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	108					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)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GCCAGAGGCCGTAGAGCTGTG	0.607																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	uc009vmc.1		NA																	0					0						c.(322-324)GTA>ATA		zinc finger and BTB domain containing 48							43.0	44.0	44.0					1																	6640991		2203	4300	6503	SO:0001583	missense	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6640991G>A	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.322G>A	1.37:g.6640991G>A	ENSP00000366902:p.Val108Ile					ZBTB48_uc001anx.2_Missense_Mutation_p.V108I|ZBTB48_uc009vmd.1_Missense_Mutation_p.V108I	p.V108I	NM_005341	NP_005332	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	2	445	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	108					Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	c.322G>A	CCDS84.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534610	0.27475	.	.	ENSG00000204859	ENST00000319084;ENST00000435905;ENST00000377674	T;T;T	0.66460	-0.21;-0.21;-0.21	5.6	5.6	0.85130	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.062517	0.64402	D	0.000004	T	0.40719	0.1128	N	0.20574	0.59	0.41780	D	0.98981	P	0.36222	0.544	B	0.25291	0.059	T	0.49283	-0.8956	10	0.02654	T	1	-24.8482	10.5259	0.44948	0.0878:0.0:0.9122:0.0	.	108	P10074	ZBT48_HUMAN	I	108	ENSP00000313416:V108I;ENSP00000416054:V108I;ENSP00000366902:V108I	ENSP00000313416:V108I	V	+	1	0	ZBTB48	6563578	0.466000	0.25823	1.000000	0.80357	0.924000	0.55760	0.850000	0.27737	2.626000	0.88956	0.655000	0.94253	GTA		0.607	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		6	30	0	0	0	0	6	30				
ZBTB48	3104	broad.mit.edu	37	1	6642211	6642211	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:6642211C>T	ENST00000377674.4	+	3	942	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	262					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)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AAATGTAATCCGAAAGCCCTG	0.582																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	uc009vmc.1		NA																	0					0						c.(784-786)CGA>TGA		zinc finger and BTB domain containing 48							86.0	79.0	81.0					1																	6642211		2203	4300	6503	SO:0001587	stop_gained	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6642211C>T	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.784C>T	1.37:g.6642211C>T	ENSP00000366902:p.Arg262*					ZBTB48_uc001anx.2_Nonsense_Mutation_p.R262*|ZBTB48_uc009vmd.1_Nonsense_Mutation_p.R262*	p.R262*	NM_005341	NP_005332	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	3	907	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	262					Q5SY19	Nonsense_Mutation	SNP	ENST00000377674.4	37	c.784C>T	CCDS84.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880036	0.72294	.	.	ENSG00000204859	ENST00000319084;ENST00000435905;ENST00000377674	.	.	.	5.67	2.07	0.26955	.	0.404575	0.27696	N	0.018233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-1.9441	12.484	0.55861	0.5139:0.4861:0.0:0.0	.	.	.	.	X	262	.	ENSP00000313416:R262X	R	+	1	2	ZBTB48	6564798	0.000000	0.05858	0.019000	0.16419	0.684000	0.39900	0.548000	0.23314	0.410000	0.25675	-0.397000	0.06425	CGA		0.582	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		7	20	0	0	0	0	7	20				
PER3	8863	broad.mit.edu	37	1	7902768	7902768	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:7902768G>A	ENST00000361923.2	+	21	3734	c.3559G>A	c.(3559-3561)Ggt>Agt	p.G1187S	PER3_ENST00000377532.3_Missense_Mutation_p.G1196S	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1187	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAGCTGATGGTGCGGCCAC	0.448																																						uc001aoo.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3559-3561)GGT>AGT		period 3							179.0	158.0	165.0					1																	7902768		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7902768G>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3559G>A	1.37:g.7902768G>A	ENSP00000355031:p.Gly1187Ser					PER3_uc001aop.2_Missense_Mutation_p.G1196S|PER3_uc010nzw.1_Missense_Mutation_p.G876S	p.G1187S	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	21	3734	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1187			CRY binding domain (By similarity).		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.3559G>A	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	9.894	1.205148	0.22205	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.09350	3.0;2.99	4.5	2.55	0.30701	.	4.013560	0.01277	N	0.009639	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B;B;B	0.20164	0.042;0.034;0.042	B;B;B	0.23018	0.043;0.025;0.026	T	0.37009	-0.9724	10	0.37606	T	0.19	.	10.681	0.45815	0.0:0.3775:0.6225:0.0	.	236;1196;1187	B4DR65;P56645-2;P56645	.;.;PER3_HUMAN	S	1196;1187;380	ENSP00000366755:G1196S;ENSP00000355031:G1187S	ENSP00000355031:G1187S	G	+	1	0	PER3	7825355	0.010000	0.17322	0.000000	0.03702	0.002000	0.02628	2.044000	0.41241	0.485000	0.27652	-0.175000	0.13238	GGT		0.448	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		17	56	0	0	0	0	17	56				
UBE4B	10277	broad.mit.edu	37	1	10166447	10166447	+	Silent	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:10166447T>G	ENST00000343090.6	+	7	1077	c.1002T>G	c.(1000-1002)acT>acG	p.T334T	UBE4B_ENST00000253251.8_Intron|UBE4B_ENST00000377157.3_Intron	NM_001105562.2	NP_001099032.1			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)		GCCCCTACACTGTCACTCACC	0.647																																						uc001aqs.3		NA																	0				ovary(2)|skin(2)	4						c.(1000-1002)ACT>ACG		ubiquitination factor E4B isoform 1							79.0	87.0	84.0					1																	10166447		2091	4206	6297	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.chr1:10166447T>G	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	ENST00000343090.6:c.1002T>G	1.37:g.10166447T>G						UBE4B_uc001aqr.3_Intron|UBE4B_uc010oai.1_Intron|UBE4B_uc010oaj.1_Intron	p.T334T	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)	7	1715	+		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)	334						Silent	SNP	ENST00000343090.6	37	c.1002T>G	CCDS41245.1																																																																																				0.647	UBE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005016.1	NM_006048		18	61	0	0	0	0	18	61				
MASP2	10747	broad.mit.edu	37	1	11105536	11105536	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:11105536T>C	ENST00000400897.3	-	4	488	c.473A>G	c.(472-474)aAc>aGc	p.N158S	MASP2_ENST00000400898.3_Missense_Mutation_p.N158S	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	158	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCCCAGGTGGTTGTGGCAGTG	0.682																																					GBM(35;611 746 20780 22741 36496)	uc001aru.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(472-474)AAC>AGC		mannan-binding lectin serine protease 2 isoform							48.0	48.0	48.0					1																	11105536		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11105536T>C	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.473A>G	1.37:g.11105536T>C	ENSP00000383690:p.Asn158Ser					MASP2_uc001arv.2_Missense_Mutation_p.N158S|MASP2_uc001arw.2_3'UTR|MASP2_uc001arx.1_Missense_Mutation_p.N158S	p.N158S	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	4	494	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	158			EGF-like; calcium-binding.	Calcium 2.	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.473A>G	CCDS123.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533127	0.85812	.	.	ENSG00000009724	ENST00000400897;ENST00000400898	D;D	0.98777	-5.13;-5.13	4.22	4.22	0.49857	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.057827	0.64402	D	0.000004	D	0.99196	0.9721	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99264	1.0891	10	0.87932	D	0	.	12.5702	0.56332	0.0:0.0:0.0:1.0	.	158;158	O00187-2;O00187	.;MASP2_HUMAN	S	158	ENSP00000383690:N158S;ENSP00000383691:N158S	ENSP00000383690:N158S	N	-	2	0	MASP2	11028123	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.811000	0.86092	1.664000	0.50801	0.374000	0.22700	AAC		0.682	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		12	22	0	0	0	0	12	22				
CLCN6	1185	broad.mit.edu	37	1	11887266	11887266	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:11887266C>T	ENST00000346436.6	+	10	880	c.828C>T	c.(826-828)ctC>ctT	p.L276L	CLCN6_ENST00000312413.6_Silent_p.L276L|CLCN6_ENST00000376487.3_Silent_p.L254L|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Silent_p.L276L	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	276					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAAGGGCTCACGTGGAAAG	0.552																																						uc001ate.3		NA																	0					0						c.(826-828)CTC>CTT		chloride channel 6 isoform ClC-6a							66.0	67.0	67.0					1																	11887266		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11887266C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.828C>T	1.37:g.11887266C>T						CLCN6_uc009vnf.1_Missense_Mutation_p.H280Y|CLCN6_uc009vng.1_Missense_Mutation_p.H268Y|CLCN6_uc009vnh.1_Silent_p.L276L|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Silent_p.L254L	p.L276L	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	10	941	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	276					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.828C>T	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586385	0.46110	.	.	ENSG00000011021	ENST00000376490;ENST00000376491	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	T	0.44329	0.1288	.	.	.	0.80722	D	1	B;B	0.14805	0.011;0.011	B;B	0.13407	0.009;0.009	T	0.29941	-0.9995	7	0.27785	T	0.31	-33.1636	11.5605	0.50774	0.0:0.9092:0.0:0.0908	.	268;280	P51797-4;P51797-2	.;.	Y	280;268	.	ENSP00000365673:H280Y	H	+	1	0	CLCN6	11809853	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.897000	0.39799	2.540000	0.85666	0.561000	0.74099	CAC		0.552	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		11	45	0	0	0	0	11	45				
HNRNPCL1	343069	broad.mit.edu	37	1	12907779	12907779	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:12907779C>T	ENST00000317869.6	-	2	589	c.364G>A	c.(364-366)Gga>Aga	p.G122R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	122						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTGTACATTCCATCATAATAA	0.498																																						uc009vno.2		NA																	0					0						c.(364-366)GGG>AGG		heterogeneous nuclear ribonucleoprotein C-like							84.0	81.0	82.0					1																	12907779		2203	4299	6502	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12907779C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.364G>A	1.37:g.12907779C>T	ENSP00000365370:p.Gly122Arg					HNRNPCL1_uc010obf.1_Missense_Mutation_p.G122R	p.G122R	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN			1	459	-			122					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.364G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.028749	0.00410	.	.	ENSG00000179172	ENST00000317869	T	0.06371	3.31	1.09	-2.18	0.07037	.	0.094046	0.38436	N	0.001683	T	0.00936	0.0031	N	0.00246	-1.78	0.20638	N	0.999876	B	0.02656	0.0	B	0.01281	0.0	T	0.32693	-0.9897	10	0.02654	T	1	.	2.2352	0.04006	0.0:0.2374:0.3151:0.4474	.	122	O60812	HNRCL_HUMAN	R	122	ENSP00000365370:G122R	ENSP00000365370:G122R	G	-	1	0	HNRNPCL1	12830366	1.000000	0.71417	0.010000	0.14722	0.002000	0.02628	1.549000	0.36212	-0.979000	0.03529	-2.126000	0.00345	GGA		0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		13	61	0	0	0	0	13	61				
PRAMEF10	343071	broad.mit.edu	37	1	12955430	12955430	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:12955430C>T	ENST00000235347.4	-	2	328	c.249G>A	c.(247-249)agG>agA	p.R83R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	83					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TATCAAGTCCCCTCAGGACAG	0.607																																						uc001auo.2		NA																	0					0						c.(247-249)AGG>AGA		PRAME family member 10							46.0	44.0	45.0					1																	12955430		2048	3771	5819	SO:0001819	synonymous_variant	343071							g.chr1:12955430C>T	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.249G>A	1.37:g.12955430C>T							p.R83R	NM_001039361	NP_001034450	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	322	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	83					Q2M1V2	Silent	SNP	ENST00000235347.4	37	c.249G>A	CCDS41255.1																																																																																				0.607	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		15	39	0	0	0	0	15	39				
CELA2B	51032	broad.mit.edu	37	1	15812401	15812401	+	Missense_Mutation	SNP	G	G	A	rs199863613		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:15812401G>A	ENST00000375910.3	+	6	524	c.499G>A	c.(499-501)Ggg>Agg	p.G167R		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	167	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TTCAGCCAACGGGGCTCTCCC	0.562													A|||	1	0.000199681	0.0	0.0	5008	,	,		17840	0.0		0.001	False		,,,				2504	0.0					uc001awl.2		NA																	0				ovary(1)	1						c.(499-501)GGG>AGG		elastase 2B preproprotein							129.0	135.0	133.0					1																	15812401		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15812401G>A		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.499G>A	1.37:g.15812401G>A	ENSP00000365075:p.Gly167Arg						p.G167R	NM_015849	NP_056933	P08218	CEL2B_HUMAN			6	524	+			167			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.499G>A	CCDS30605.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	15.77	2.932763	0.52866	.	.	ENSG00000215704	ENST00000375910	D	0.90385	-2.66	3.82	2.9	0.33743	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.104526	0.40385	N	0.001107	D	0.89836	0.6830	M	0.73753	2.245	0.47476	D	0.999436	P	0.45126	0.851	B	0.42343	0.384	D	0.88159	0.2856	10	0.66056	D	0.02	.	12.3539	0.55163	0.101:0.0:0.899:0.0	.	167	P08218	CEL2B_HUMAN	R	167	ENSP00000365075:G167R	ENSP00000365075:G167R	G	+	1	0	CELA2B	15684988	1.000000	0.71417	0.013000	0.15412	0.001000	0.01503	6.001000	0.70685	0.360000	0.24265	-1.327000	0.01280	GGG		0.562	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		39	116	0	0	0	0	39	116				
FBLIM1	54751	broad.mit.edu	37	1	16093894	16093894	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:16093894C>T	ENST00000375766.3	+	4	914	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Silent_p.L92L|FBLIM1_ENST00000375771.1_Silent_p.L92L|FBLIM1_ENST00000332305.5_Intron	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	92	Pro-rich.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TCCTCCTGTCCTGGATGGTGA	0.627																																						uc001axd.1		NA																	0				skin(1)	1						c.(274-276)CTG>TTG		filamin-binding LIM protein-1 isoform a							46.0	42.0	43.0					1																	16093894		2203	4300	6503	SO:0001819	synonymous_variant	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16093894C>T		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.274C>T	1.37:g.16093894C>T						FBLIM1_uc001axe.1_Silent_p.L92L|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Silent_p.L92L|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	p.L92L	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	5	717	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	92			Pro-rich.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	ENST00000375766.3	37	c.274C>T	CCDS163.1																																																																																				0.627	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		3	27	0	0	0	0	3	27				
ACTL8	81569	broad.mit.edu	37	1	18149591	18149591	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:18149591C>T	ENST00000375406.1	+	2	304	c.88C>T	c.(88-90)Ccg>Tcg	p.P30S		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	30					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GATGGTCTTCCCGAACATCGT	0.582																																						uc001bat.2		NA																	0				ovary(4)	4						c.(88-90)CCG>TCG		actin-like 8							92.0	75.0	81.0					1																	18149591		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18149591C>T	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.88C>T	1.37:g.18149591C>T	ENSP00000364555:p.Pro30Ser						p.P30S	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	304	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	30					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.88C>T	CCDS183.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888744	0.91814	.	.	ENSG00000117148	ENST00000375406	D	0.96830	-4.14	5.57	5.57	0.84162	.	0.000000	0.41938	D	0.000785	D	0.97642	0.9227	M	0.62209	1.925	0.44834	D	0.997841	D	0.89917	1.0	D	0.85130	0.997	D	0.98310	1.0523	10	0.87932	D	0	-47.4039	17.0331	0.86466	0.0:1.0:0.0:0.0	.	30	Q9H568	ACTL8_HUMAN	S	30	ENSP00000364555:P30S	ENSP00000364555:P30S	P	+	1	0	ACTL8	18022178	1.000000	0.71417	0.038000	0.18304	0.014000	0.08584	7.241000	0.78201	2.621000	0.88768	0.655000	0.94253	CCG		0.582	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		15	36	0	0	0	0	15	36				
KLHDC7A	127707	broad.mit.edu	37	1	18809042	18809042	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:18809042C>T	ENST00000400664.1	+	1	1619	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	523						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGCTGGCTCGCATGCCCCC	0.672																																						uc001bax.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1567-1569)CGC>TGC		kelch domain containing 7A							40.0	49.0	46.0					1																	18809042		2199	4292	6491	SO:0001583	missense	127707					integral to membrane		g.chr1:18809042C>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1567C>T	1.37:g.18809042C>T	ENSP00000383505:p.Arg523Cys					KLHDC7A_uc009vpg.2_Missense_Mutation_p.R305C	p.R523C	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1619	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	523			Kelch 2.		Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1567C>T	CCDS185.2	.	.	.	.	.	.	.	.	.	.	C	8.358	0.832525	0.16820	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.66815	-0.23	5.41	-0.734	0.11140	Kelch-type beta propeller (1);	1.062260	0.07302	N	0.874217	T	0.46718	0.1407	N	0.19112	0.55	0.19775	N	0.999952	B;B	0.15719	0.014;0.014	B;B	0.08055	0.003;0.003	T	0.32079	-0.9920	10	0.45353	T	0.12	.	4.2165	0.10537	0.2194:0.5387:0.1016:0.1403	.	460;523	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	C	523;460	ENSP00000383505:R523C	ENSP00000383505:R523C	R	+	1	0	KLHDC7A	18681629	0.002000	0.14202	0.018000	0.16275	0.249000	0.25844	0.136000	0.15974	-0.000000	0.14550	0.561000	0.74099	CGC		0.672	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		14	41	0	0	0	0	14	41				
UBR4	23352	broad.mit.edu	37	1	19447897	19447897	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:19447897G>A	ENST00000375254.3	-	68	9954	c.9927C>T	c.(9925-9927)ttC>ttT	p.F3309F	UBR4_ENST00000375226.2_Silent_p.F3285F|UBR4_ENST00000375267.2_Silent_p.F3309F|UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375217.2_Silent_p.F3302F	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3309					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CATCCACAAGGAAACTGACTT	0.582																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(9925-9927)TTC>TTT		retinoblastoma-associated factor 600							71.0	65.0	67.0					1																	19447897		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19447897G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9927C>T	1.37:g.19447897G>A						UBR4_uc001bbk.1_Silent_p.F956F	p.F3309F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	68	9931	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3309					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.9927C>T	CCDS189.1																																																																																				0.582	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		5	35	0	0	0	0	5	35				
AKR7A2	8574	broad.mit.edu	37	1	19630782	19630782	+	Silent	SNP	G	G	A	rs148319333	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:19630782G>A	ENST00000235835.3	-	7	1038	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	339					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCATCCACGACAGCCGGCT	0.602													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16109	0.0		0.001	False		,,,				2504	0.0					uc001bbw.2		NA																	0				central_nervous_system(1)	1						c.(1015-1017)GTC>GTT		aldo-keto reductase family 7, member A2		G		0,4406		0,0,2203	71.0	71.0	71.0		1017	-7.3	0.3	1	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	AKR7A2	NM_003689.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		339/360	19630782	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19630782G>A	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.1017C>T	1.37:g.19630782G>A						AKR7A2_uc001bbx.2_Silent_p.V304V	p.V339V	NM_003689	NP_003680	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	1039	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	339					O75749|Q5TG63	Silent	SNP	ENST00000235835.3	37	c.1017C>T	CCDS194.1																																																																																				0.602	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		26	42	0	0	0	0	26	42				
AKR7A2	8574	broad.mit.edu	37	1	19630871	19630871	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:19630871C>T	ENST00000235835.3	-	7	949	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	310					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGCGTCCCCGTGGGCACCC	0.647																																						uc001bbw.2		NA																	0				central_nervous_system(1)	1						c.(928-930)GGG>AGG		aldo-keto reductase family 7, member A2							60.0	66.0	64.0					1																	19630871		2203	4296	6499	SO:0001583	missense	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19630871C>T	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.928G>A	1.37:g.19630871C>T	ENSP00000235835:p.Gly310Arg					AKR7A2_uc001bbx.2_Missense_Mutation_p.G275R	p.G310R	NM_003689	NP_003680	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	950	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	310					O75749|Q5TG63	Missense_Mutation	SNP	ENST00000235835.3	37	c.928G>A	CCDS194.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593637	0.66219	.	.	ENSG00000053371	ENST00000235835;ENST00000330072;ENST00000489286	T;T	0.25414	1.8;1.8	4.37	4.37	0.52481	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.77406	2.37	0.58432	D	0.999999	D	0.63880	0.993	P	0.56042	0.79	T	0.49579	-0.8925	10	0.54805	T	0.06	.	14.7883	0.69819	0.0:1.0:0.0:0.0	.	310	O43488	ARK72_HUMAN	R	310;265;172	ENSP00000235835:G310R;ENSP00000339084:G265R	ENSP00000235835:G310R	G	-	1	0	AKR7A2	19503458	0.998000	0.40836	0.942000	0.38095	0.198000	0.23893	3.983000	0.56916	2.412000	0.81896	0.655000	0.94253	GGG		0.647	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		29	67	0	0	0	0	29	67				
PLA2G5	5322	broad.mit.edu	37	1	20417131	20417132	+	Silent	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:20417131_20417132CC>TT	ENST00000375108.3	+	5	631_632	c.363_364CC>TT	c.(361-366)aaCCta>aaTTta	p.121_122NL>NL	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	121					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCAAGAGAAACCTACGGAGCTA	0.54																																						uc001bcy.2		NA																	0				skin(1)	1						c.(361-366)AACCTA>AATTTA		phospholipase A2, group V precursor																																				SO:0001819	synonymous_variant	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20417131_20417132CC>TT	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	Exception_encountered	1.37:g.20417131_20417132delinsTT						PLA2G5_uc001bcw.2_RNA|PLA2G5_uc001bcx.2_Silent_p.152_153NL>NL	p.121_122NL>NL	NM_000929	NP_000920	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	5	631_632	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	121_122					Q8N435	Silent	DNP	ENST00000375108.3	37	c.363_364CC>TT	CCDS202.1																																																																																				0.540	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		24	76	0	0	0	0	24	76				
MAN1C1	57134	broad.mit.edu	37	1	26012975	26012975	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:26012975G>A	ENST00000374332.4	+	2	915	c.585G>A	c.(583-585)ggG>ggA	p.G195G	MAN1C1_ENST00000263979.3_Silent_p.G15G	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	195					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATGCAATGGGGAAAAACGAAC	0.498																																						uc001bkm.2		NA																	0				skin(1)	1						c.(583-585)GGG>GGA		mannosidase, alpha, class 1C, member 1							181.0	170.0	174.0					1																	26012975		2203	4300	6503	SO:0001819	synonymous_variant	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26012975G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.585G>A	1.37:g.26012975G>A						MAN1C1_uc009vry.1_Silent_p.G15G	p.G195G	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	2	915	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	195			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Silent	SNP	ENST00000374332.4	37	c.585G>A	CCDS265.1																																																																																				0.498	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		33	95	0	0	0	0	33	95				
SLC30A2	7780	broad.mit.edu	37	1	26366380	26366380	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:26366380G>A	ENST00000374278.3	-	6	930	c.714C>T	c.(712-714)ttC>ttT	p.F238F	SLC30A2_ENST00000374276.3_Silent_p.F287F	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	238					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GAACAGCTGTGAAGTCAACGC	0.617																																						uc001blh.1		NA																	0					0						c.(712-714)TTC>TTT		solute carrier family 30, member 2 isoform 2							71.0	58.0	62.0					1																	26366380		2203	4300	6503	SO:0001819	synonymous_variant	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26366380G>A	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.714C>T	1.37:g.26366380G>A						SLC30A2_uc001blg.1_Silent_p.F287F	p.F238F	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	6	931	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	238			Cytoplasmic (Potential).		Q71RC8	Silent	SNP	ENST00000374278.3	37	c.714C>T	CCDS272.1																																																																																				0.617	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		7	18	0	0	0	0	7	18				
RPS6KA1	6195	broad.mit.edu	37	1	26877918	26877918	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:26877918G>A	ENST00000374168.2	+	5	492	c.338G>A	c.(337-339)aGa>aAa	p.R113K	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R122K|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R21K|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R97K|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R21K|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R113K	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	113	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R122T(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAGATGGAGAGAGACATCCTG	0.567																																						uc001bmr.1		NA																	1	Substitution - Missense(1)		prostate(1)	lung(1)	1						c.(337-339)AGA>AAA		ribosomal protein S6 kinase, 90kDa, polypeptide							102.0	87.0	92.0					1																	26877918		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26877918G>A	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.338G>A	1.37:g.26877918G>A	ENSP00000363283:p.Arg113Lys					RPS6KA1_uc010ofe.1_Missense_Mutation_p.R21K|RPS6KA1_uc010off.1_Missense_Mutation_p.R97K|RPS6KA1_uc001bms.1_Missense_Mutation_p.R122K|RPS6KA1_uc009vsl.1_5'UTR	p.R113K	NM_002953	NP_002944	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	5	501	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	113			Protein kinase 1.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.338G>A	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213695	0.79352	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000529454;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045055	0.85682	D	0.000000	T	0.25306	0.0615	N	0.21324	0.655	0.80722	D	1	P;P;B	0.41498	0.555;0.752;0.03	P;B;B	0.44518	0.452;0.405;0.032	T	0.06427	-1.0827	10	0.87932	D	0	.	17.1326	0.86729	0.0:0.0:1.0:0.0	.	97;122;113	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	K	113;113;21;21;21;97;122	ENSP00000363283:R113K;ENSP00000363281:R113K;ENSP00000431651:R21K;ENSP00000433039:R21K;ENSP00000363277:R21K;ENSP00000432281:R97K;ENSP00000435412:R122K	ENSP00000363277:R21K	R	+	2	0	RPS6KA1	26750505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.208000	0.95075	2.529000	0.85273	0.563000	0.77884	AGA		0.567	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		10	24	0	0	0	0	10	24				
ARID1A	8289	broad.mit.edu	37	1	27057646	27057647	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27057646_27057647CC>TT	ENST00000324856.7	+	3	1725_1726	c.1354_1355CC>TT	c.(1354-1356)CCt>TTt	p.P452F	ARID1A_ENST00000374152.2_Missense_Mutation_p.P69F|ARID1A_ENST00000457599.2_Missense_Mutation_p.P452F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	452					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTACAGATTCCTCCTTATGGA	0.47			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1354-1356)CCT>TTT		AT rich interactive domain 1A isoform a																																				SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057646_27057647CC>TT	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	Exception_encountered	1.37:g.27057646_27057647delinsTT	ENSP00000320485:p.Pro452Phe					ARID1A_uc001bmt.1_Missense_Mutation_p.P452F|ARID1A_uc001bmu.1_Missense_Mutation_p.P452F|ARID1A_uc001bmw.1_Missense_Mutation_p.P69F	p.P452F	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	1727_1728	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	452					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	DNP	ENST00000324856.7	37	c.1354_1355CC>TT	CCDS285.1																																																																																				0.470	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		35	124	0	0	0	0	35	124				
ZDHHC18	84243	broad.mit.edu	37	1	27176873	27176873	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27176873C>T	ENST00000374142.4	+	4	823	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	243					cellular protein localization (GO:0034613)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TTTATTCTCTCCCTCTCATTC	0.582																																						uc001bnb.2		NA																	0					0						c.(727-729)TCC>TTC		zinc finger, DHHC-type containing 18							206.0	175.0	185.0					1																	27176873		2203	4300	6503	SO:0001583	missense	84243					integral to membrane	zinc ion binding	g.chr1:27176873C>T	AK056427	CCDS30650.1	1p36.11	2008-05-02			ENSG00000204160	ENSG00000204160		"""Zinc fingers, DHHC-type"""	20712	protein-coding gene	gene with protein product							Standard	NM_032283		Approved	DKFZp667O2416	uc001bnb.3	Q9NUE0	OTTHUMG00000004092	ENST00000374142.4:c.728C>T	1.37:g.27176873C>T	ENSP00000363257:p.Ser243Phe					ZDHHC18_uc010ofh.1_Missense_Mutation_p.S108F	p.S243F	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)	4	823	+		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	243			Helical; (Potential).		A6NHY9|B4DQ84|Q5JYH0|Q9H020	Missense_Mutation	SNP	ENST00000374142.4	37	c.728C>T	CCDS30650.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966241	0.92855	.	.	ENSG00000204160	ENST00000374142;ENST00000374141;ENST00000534643	T;T;T	0.23552	1.9;1.9;1.9	5.05	5.05	0.67936	Zinc finger, DHHC-type, palmitoyltransferase (1);	0.176205	0.52532	D	0.000074	T	0.47469	0.1447	M	0.69248	2.105	0.80722	D	1	D	0.56521	0.976	P	0.59115	0.852	T	0.48843	-0.8999	10	0.87932	D	0	-13.9405	18.5889	0.91202	0.0:1.0:0.0:0.0	.	243	Q9NUE0	ZDH18_HUMAN	F	243;108;108	ENSP00000363257:S243F;ENSP00000363256:S108F;ENSP00000435510:S108F	ENSP00000363256:S108F	S	+	2	0	ZDHHC18	27049460	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.317000	0.79018	2.617000	0.88574	0.561000	0.74099	TCC		0.582	ZDHHC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011706.3	NM_032283		13	47	0	0	0	0	13	47				
SFN	2810	broad.mit.edu	37	1	27190366	27190366	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27190366G>A	ENST00000339276.4	+	1	734	c.663G>A	c.(661-663)caG>caA	p.Q221Q		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		TCATCATGCAGCTGCTGCGAG	0.637																																						uc001bnc.1		NA																	0					0						c.(661-663)CAG>CAA		stratifin							88.0	85.0	86.0					1																	27190366		2203	4300	6503	SO:0001819	synonymous_variant	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190366G>A	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.663G>A	1.37:g.27190366G>A						uc010ofi.1_RNA	p.Q221Q	NM_006142	NP_006133	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	734	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	221					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	ENST00000339276.4	37	c.663G>A	CCDS288.1																																																																																				0.637	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		25	57	0	0	0	0	25	57				
SFN	2810	broad.mit.edu	37	1	27190376	27190376	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27190376G>A	ENST00000339276.4	+	1	744	c.673G>A	c.(673-675)Gac>Aac	p.D225N		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GCTGCTGCGAGACAACCTGAC	0.652																																						uc001bnc.1		NA																	0					0						c.(673-675)GAC>AAC		stratifin							78.0	76.0	77.0					1																	27190376		2203	4300	6503	SO:0001583	missense	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190376G>A	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.673G>A	1.37:g.27190376G>A	ENSP00000340989:p.Asp225Asn					uc010ofi.1_RNA	p.D225N	NM_006142	NP_006133	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	744	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	225					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	c.673G>A	CCDS288.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900439	0.92035	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.55234	0.53	6.02	5.11	0.69529	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	M	0.89785	3.06	0.39950	D	0.974523	D	0.89917	1.0	D	0.85130	0.997	D	0.83805	0.0238	10	0.87932	D	0	-48.5429	14.7281	0.69360	0.0695:0.0:0.9305:0.0	.	225	P31947	1433S_HUMAN	N	225;193	ENSP00000340989:D225N	ENSP00000340989:D225N	D	+	1	0	SFN	27062963	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	1.562000	0.49601	0.655000	0.94253	GAC		0.652	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		18	53	0	0	0	0	18	53				
NR0B2	8431	broad.mit.edu	37	1	27240329	27240329	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27240329G>A	ENST00000254227.3	-	1	128	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	35					cholesterol metabolic process (GO:0008203)|gene expression (GO:0010467)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCTACGGGGTCGGGGGACA	0.662																																						uc001bnf.2		NA																	0					0						c.(103-105)CCC>TCC		short heterodimer partner							37.0	39.0	39.0					1																	27240329		2200	4296	6496	SO:0001583	missense	8431				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity	g.chr1:27240329G>A	AF044316	CCDS291.1	1p36.1	2013-01-16			ENSG00000131910	ENSG00000131910		"""Nuclear hormone receptors"""	7961	protein-coding gene	gene with protein product		604630				9603951	Standard	NM_021969		Approved	SHP	uc001bnf.3	Q15466	OTTHUMG00000004231	ENST00000254227.3:c.103C>T	1.37:g.27240329G>A	ENSP00000254227:p.Pro35Ser						p.P35S	NM_021969	NP_068804	Q15466	NR0B2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	1	239	-		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	35					F1D8P5|Q5QP36	Missense_Mutation	SNP	ENST00000254227.3	37	c.103C>T	CCDS291.1	.	.	.	.	.	.	.	.	.	.	G	3.823	-0.037391	0.07497	.	.	ENSG00000131910	ENST00000254227	D	0.84516	-1.86	5.21	1.6	0.23607	Nuclear hormone receptor, ligand-binding (2);	1.000930	0.08058	N	0.997647	T	0.62684	0.2448	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50101	-0.8867	10	0.08179	T	0.78	-16.9365	0.8935	0.01259	0.3408:0.1964:0.3178:0.1449	.	35	Q15466	NR0B2_HUMAN	S	35	ENSP00000254227:P35S	ENSP00000254227:P35S	P	-	1	0	NR0B2	27112916	0.000000	0.05858	0.000000	0.03702	0.346000	0.29079	-0.273000	0.08548	0.029000	0.15352	0.561000	0.74099	CCC		0.662	NR0B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012185.1			6	41	0	0	0	0	6	41				
DCDC2B	149069	broad.mit.edu	37	1	32678090	32678090	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:32678090G>A	ENST00000409358.1	+	5	527		c.e5-1			NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B						intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTCTCTCCCAGACTCTGCACC	0.562																																						uc001bun.2		NA																	0					0						c.e5-1		doublecortin domain containing 2B							52.0	56.0	55.0					1																	32678090		1978	4164	6142	SO:0001630	splice_region_variant	149069				intracellular signal transduction			g.chr1:32678090G>A	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.528-1G>A	1.37:g.32678090G>A							p.K176_splice	NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN			5	528	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)						B7ZBC6	Splice_Site	SNP	ENST00000409358.1	37	c.528_splice	CCDS44100.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064264	0.76187	.	.	ENSG00000222046	ENST00000409358	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9153	0.92503	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCDC2B	32450677	1.000000	0.71417	0.998000	0.56505	0.768000	0.43524	8.480000	0.90434	2.647000	0.89833	0.655000	0.94253	.		0.562	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631	Intron	9	20	0	0	0	0	9	20				
LCK	3932	broad.mit.edu	37	1	32742008	32742008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:32742008G>A	ENST00000336890.5	+	8	840	c.702G>A	c.(700-702)tgG>tgA	p.W234*	LCK_ENST00000373564.3_Intron|LCK_ENST00000333070.4_Nonsense_Mutation_p.W234*	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	234	Interaction with PTPRH.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	AGCCGTGGTGGGAGGACGAGT	0.662			T	TRB@	T-ALL																																	uc001bux.2		NA		Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				lung(3)|central_nervous_system(2)|ovary(1)	6						c.(700-702)TGG>TGA		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						54.0	66.0	62.0					1																	32742008		2202	4300	6502	SO:0001587	stop_gained	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32742008G>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.702G>A	1.37:g.32742008G>A	ENSP00000337825:p.Trp234*					LCK_uc001buy.2_Nonsense_Mutation_p.W234*|LCK_uc001buz.2_Nonsense_Mutation_p.W234*|LCK_uc010ohc.1_Nonsense_Mutation_p.W278*|LCK_uc001bva.2_Intron	p.W234*	NM_005356	NP_005347	P06239	LCK_HUMAN			8	840	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	234			Interaction with PTPRH.		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Nonsense_Mutation	SNP	ENST00000336890.5	37	c.702G>A	CCDS359.1	.	.	.	.	.	.	.	.	.	.	.	31	5.104592	0.94245	.	.	ENSG00000182866	ENST00000336890;ENST00000373557;ENST00000333070;ENST00000436824	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	17.7783	0.88516	0.0:0.0:1.0:0.0	.	.	.	.	X	234;278;234;278	.	ENSP00000328213:W234X	W	+	3	0	LCK	32514595	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.821000	0.97095	0.555000	0.69702	TGG		0.662	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		6	21	0	0	0	0	6	21				
CSMD2	114784	broad.mit.edu	37	1	34554764	34554764	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:34554764G>A	ENST00000373381.4	-	2	394	c.218C>T	c.(217-219)cCc>cTc	p.P73L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	33	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTCCCATTGGGACCGTGCAG	0.532																																						uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(97-99)CCC>CTC		CUB and Sushi multiple domains 2							80.0	71.0	74.0					1																	34554764		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34554764G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.218C>T	1.37:g.34554764G>A	ENSP00000362479:p.Pro73Leu					CSMD2_uc001bxm.1_Missense_Mutation_p.P73L	p.P33L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			2	127	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	33			CUB 1.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.98C>T		.	.	.	.	.	.	.	.	.	.	G	13.29	2.193019	0.38707	.	.	ENSG00000121904	ENST00000373381	T	0.17370	2.28	5.33	5.33	0.75918	CUB (5);	0.000000	0.64402	U	0.000005	T	0.26122	0.0637	N	0.17838	0.53	0.80722	D	1	D;B	0.89917	1.0;0.105	D;B	0.87578	0.998;0.174	T	0.04373	-1.0956	10	0.10636	T	0.68	.	18.3898	0.90478	0.0:0.0:1.0:0.0	.	33;73	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	73	ENSP00000362479:P73L	ENSP00000241312:P33L	P	-	2	0	CSMD2	34327351	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.062000	0.89475	2.654000	0.90174	0.655000	0.94253	CCC		0.532	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		8	23	0	0	0	0	8	23				
ZMYM6	9204	broad.mit.edu	37	1	35476584	35476584	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:35476584C>G	ENST00000357182.4	-	9	1343	c.1116G>C	c.(1114-1116)caG>caC	p.Q372H	ZMYM6_ENST00000487874.1_Missense_Mutation_p.Q372H|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.Q372H	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	372					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CCACTTGGCCCTGAGACAGGG	0.493																																						uc001byh.2		NA																	0				ovary(3)	3						c.(1114-1116)CAG>CAC		zinc finger protein 258							59.0	59.0	59.0					1																	35476584		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35476584C>G	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1116G>C	1.37:g.35476584C>G	ENSP00000349708:p.Gln372His					ZMYM6_uc001byf.1_Missense_Mutation_p.Q372H|ZMYM6_uc010oht.1_Missense_Mutation_p.Q275H|ZMYM6_uc009vup.2_Missense_Mutation_p.Q178H|ZMYM6_uc009vuq.1_Missense_Mutation_p.Q372H|ZMYM6_uc009vur.1_Missense_Mutation_p.Q178H	p.Q372H	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			9	1344	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	372			MYM-type 5.		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.1116G>C	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	13.76	2.331860	0.41297	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.25749	1.78;2.92	5.2	3.28	0.37604	.	0.168423	0.52532	N	0.000063	T	0.28101	0.0693	L	0.40543	1.245	0.47819	D	0.999527	B;D;B	0.56968	0.008;0.978;0.391	B;P;P	0.56751	0.006;0.805;0.575	T	0.08391	-1.0724	10	0.14656	T	0.56	-0.7122	6.9809	0.24702	0.0:0.6656:0.1279:0.2065	.	275;372;372	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	H	372	ENSP00000362437:Q372H;ENSP00000349708:Q372H	ENSP00000349708:Q372H	Q	-	3	2	ZMYM6	35249171	0.987000	0.35691	0.994000	0.49952	0.392000	0.30506	0.067000	0.14510	0.847000	0.35167	-0.176000	0.13171	CAG		0.493	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		15	37	0	0	0	0	15	37				
COL8A2	1296	broad.mit.edu	37	1	36564591	36564591	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:36564591G>A	ENST00000397799.1	-	4	915	c.691C>T	c.(691-693)Cct>Tct	p.P231S	COL8A2_ENST00000481785.1_Missense_Mutation_p.P166S|COL8A2_ENST00000303143.4_Missense_Mutation_p.P231S			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	231	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGGACCAGGGAGGCCGGGG	0.716																																						uc001bzv.1		NA																	0				central_nervous_system(1)	1						c.(691-693)CCT>TCT		collagen, type VIII, alpha 2 precursor							9.0	12.0	11.0					1																	36564591		2044	4037	6081	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564591G>A	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.691C>T	1.37:g.36564591G>A	ENSP00000380901:p.Pro231Ser					COL8A2_uc001bzw.1_Missense_Mutation_p.P166S	p.P231S	NM_005202	NP_005193	P25067	CO8A2_HUMAN			2	698	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	231			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.691C>T	CCDS403.1	.	.	.	.	.	.	.	.	.	.	G	7.668	0.686434	0.14973	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.97665	-4.48;-4.48;-4.48	4.12	3.2	0.36748	.	0.000000	0.85682	D	0.000000	D	0.95310	0.8478	M	0.81802	2.56	0.80722	D	1	B	0.28082	0.2	B	0.19391	0.025	D	0.92898	0.6337	10	0.46703	T	0.11	.	8.1903	0.31363	0.0902:0.1588:0.751:0.0	.	231	P25067	CO8A2_HUMAN	S	231;231;166;231	ENSP00000305913:P231S;ENSP00000380901:P231S;ENSP00000436433:P166S	ENSP00000305913:P231S	P	-	1	0	COL8A2	36337178	1.000000	0.71417	0.991000	0.47740	0.133000	0.20885	7.700000	0.84556	0.943000	0.37553	0.407000	0.27541	CCT		0.716	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		7	8	0	0	0	0	7	8				
ZFP69B	65243	broad.mit.edu	37	1	40929143	40929143	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:40929143T>A	ENST00000411995.2	+	6	1862	c.1487T>A	c.(1486-1488)aTt>aAt	p.I496N	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.I394N|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	496					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CATCAGAGAATTCATACTGGA	0.378																																						uc001cfn.1		NA																	0				ovary(2)	2						c.(1486-1488)ATT>AAT		zinc finger protein 643							66.0	66.0	66.0					1																	40929143		2203	4300	6503	SO:0001583	missense	65243				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40929143T>A	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1487T>A	1.37:g.40929143T>A	ENSP00000399664:p.Ile496Asn					ZNF643_uc001cfl.1_Missense_Mutation_p.I394N|ZNF643_uc001cfm.1_Missense_Mutation_p.I362N	p.I496N	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)		5	1784	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	496			C2H2-type 8.		Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.1487T>A	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	14.39	2.520822	0.44866	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.17691	2.26;2.26	3.33	2.13	0.27403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	M	0.70108	2.13	0.24428	N	0.994589	B	0.23316	0.083	B	0.17433	0.018	T	0.19095	-1.0316	9	0.66056	D	0.02	.	7.1175	0.25424	0.2012:0.0:0.0:0.7988	.	496	Q9UJL9	ZN643_HUMAN	N	427;496;394	ENSP00000399664:I496N;ENSP00000354547:I394N	ENSP00000354547:I394N	I	+	2	0	ZNF643	40701730	0.000000	0.05858	0.904000	0.35570	0.971000	0.66376	-0.196000	0.09532	0.599000	0.29845	0.533000	0.62120	ATT		0.378	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		11	36	0	0	0	0	11	36				
SLFNL1	200172	broad.mit.edu	37	1	41483465	41483465	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:41483465G>A	ENST00000359345.1	-	2	3375	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	SLFNL1_ENST00000439569.2_Silent_p.L267L|SLFNL1_ENST00000397197.2_Silent_p.L267L|SLFNL1_ENST00000372613.2_Silent_p.L267L|SLFNL1_ENST00000372611.1_Silent_p.L208L|SLFNL1_ENST00000302946.8_Silent_p.L267L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	267							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCCTGCACCAGGCCGCTGTCC	0.662																																						uc001cgm.1		NA																	0				skin(1)	1						c.(799-801)CTG>TTG		schlafen-like 1							53.0	50.0	51.0					1																	41483465		2203	4299	6502	SO:0001819	synonymous_variant	200172						ATP binding	g.chr1:41483465G>A	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.799C>T	1.37:g.41483465G>A						SLFNL1_uc009vwf.1_Silent_p.L267L|SLFNL1_uc001cgn.1_Silent_p.L208L|SLFNL1_uc009vwg.1_Silent_p.L267L	p.L267L	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN			3	1019	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	267			ATP (Potential).		A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Silent	SNP	ENST00000359345.1	37	c.799C>T	CCDS460.1																																																																																				0.662	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		5	31	0	0	0	0	5	31				
RIMKLA	284716	broad.mit.edu	37	1	42880386	42880386	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:42880386G>A	ENST00000431473.3	+	5	1046	c.917G>A	c.(916-918)aGg>aAg	p.R306K		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	306					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CTGCCAAATAGGCAGACTGGA	0.532																																						uc001chi.2		NA																	0					0						c.(916-918)AGG>AAG		ribosomal modification protein rimK-like family							156.0	141.0	146.0					1																	42880386		2203	4300	6503	SO:0001583	missense	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42880386G>A	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.917G>A	1.37:g.42880386G>A	ENSP00000414330:p.Arg306Lys						p.R306K	NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN			5	1055	+			306					Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	c.917G>A	CCDS466.2	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052148	0.55218	.	.	ENSG00000177181	ENST00000431473	.	.	.	5.23	4.3	0.51218	.	0.048333	0.85682	D	0.000000	T	0.48114	0.1482	L	0.59436	1.845	0.45015	D	0.998034	P	0.48294	0.908	B	0.40702	0.338	T	0.46569	-0.9182	9	0.33141	T	0.24	-40.8168	12.9061	0.58154	0.0:0.0:0.8363:0.1637	.	306	Q8IXN7	RIMKA_HUMAN	K	306	.	ENSP00000414330:R306K	R	+	2	0	RIMKLA	42652973	1.000000	0.71417	0.873000	0.34254	0.950000	0.60333	7.449000	0.80643	1.176000	0.42840	0.561000	0.74099	AGG		0.532	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		24	59	0	0	0	0	24	59				
CFAP57	149465	broad.mit.edu	37	1	43675661	43675661	+	Intron	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:43675661C>T	ENST00000372492.4	+	11	2253				WDR65_ENST00000528956.1_Missense_Mutation_p.S668F	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN												NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTCAACCTCCCAATGTCTT	0.468																																						uc001cip.1		NA																	0				skin(1)	1						c.(2002-2004)TCC>TTC		WD repeat domain 65							257.0	236.0	243.0					1																	43675661		2203	4300	6503	SO:0001627	intron_variant	149465							g.chr1:43675661C>T																												ENST00000372492.4:c.1929+74C>T	1.37:g.43675661C>T						EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Intron|WDR65_uc001ciq.1_Missense_Mutation_p.S668F	p.S668F	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN			11	2124	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Error:Variant_position_missing_in_Q96MR6_after_alignment					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.2003C>T		.	.	.	.	.	.	.	.	.	.	c	14.66	2.602417	0.46423	.	.	ENSG00000243710	ENST00000528956	T	0.37584	1.19	5.25	0.268	0.15626	.	2.992020	0.01191	N	0.007327	T	0.20659	0.0497	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.10132	-1.0643	8	.	.	.	.	2.8024	0.05418	0.2032:0.3862:0.0:0.4106	.	668	Q96MR6-2	.	F	668	ENSP00000435310:S668F	.	S	+	2	0	WDR65	43448248	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	0.100000	0.15231	0.210000	0.20664	0.639000	0.83563	TCC		0.468	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			19	66	0	0	0	0	19	66				
MED8	112950	broad.mit.edu	37	1	43853231	43853231	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:43853231G>A	ENST00000372457.4	-	3	256	c.213C>T	c.(211-213)ttC>ttT	p.F71F	RP1-92O14.6_ENST00000436713.1_RNA|SZT2_ENST00000372450.4_5'Flank|MED8_ENST00000372455.4_5'UTR|MED8_ENST00000290663.6_Silent_p.F71F|SZT2_ENST00000310739.4_5'Flank|SZT2_ENST00000562955.1_5'Flank	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	71					gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGGTTACGGAACAGCGGTG	0.463																																						uc001cjg.3		NA																	0					0						c.(211-213)TTC>TTT		mediator complex subunit 8 isoform 1							144.0	138.0	140.0					1																	43853231		2203	4300	6503	SO:0001819	synonymous_variant	112950				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr1:43853231G>A	AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"""mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"""			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.213C>T	1.37:g.43853231G>A						MED8_uc001cje.1_Silent_p.F71F|MED8_uc001cjf.3_5'UTR|C1orf84_uc001cjh.2_5'Flank|C1orf84_uc001cji.1_5'Flank|KIAA0467_uc009vws.1_5'Flank	p.F71F	NM_201542	NP_963836	Q96G25	MED8_HUMAN			3	261	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	71					A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Silent	SNP	ENST00000372457.4	37	c.213C>T	CCDS487.2																																																																																				0.463	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877		15	35	0	0	0	0	15	35				
SZT2	23334	broad.mit.edu	37	1	43897985	43897985	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:43897985G>A	ENST00000562955.1	+	36	5146	c.5146G>A	c.(5146-5148)Gac>Aac	p.D1716N	SZT2_ENST00000372442.1_Missense_Mutation_p.D874N	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1773					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCTTCTTGAAGACCCTGACAG	0.587																																						uc001cjk.1		NA																	0					0						c.(2620-2622)GAC>AAC		hypothetical protein LOC23334							199.0	210.0	206.0					1																	43897985		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43897985G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5146G>A	1.37:g.43897985G>A	ENSP00000457168:p.Asp1716Asn						p.D874N	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			22	3082	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1773					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.2620G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257668	0.80246	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.98	5.98	0.97165	.	0.055638	0.64402	D	0.000001	T	0.45617	0.1351	N	0.14661	0.345	0.29554	N	0.851114	D	0.64830	0.994	D	0.63703	0.917	T	0.42050	-0.9474	9	0.36615	T	0.2	.	15.9435	0.79776	0.0:0.0:1.0:0.0	.	1716	Q5T011-5	.	N	874	.	ENSP00000361519:D874N	D	+	1	0	SZT2	43670572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.472000	0.66768	2.838000	0.97847	0.655000	0.94253	GAC		0.587	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		56	191	0	0	0	0	56	191				
DPH2	1802	broad.mit.edu	37	1	44437418	44437418	+	Missense_Mutation	SNP	C	C	T	rs139555604	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:44437418C>T	ENST00000255108.3	+	4	1016	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	ATP6V0B_ENST00000472174.2_5'Flank|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.R147C	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	282					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CAGAGATGCCCGCGTGGTAGG	0.622													c|||	5	0.000998403	0.0	0.0	5008	,	,		19813	0.005		0.0	False		,,,				2504	0.0					uc001ckz.2		NA																	0				ovary(1)	1						c.(844-846)CGC>TGC		diphthamide biosynthesis protein 2 isoform a							48.0	51.0	50.0					1																	44437418		2203	4300	6503	SO:0001583	missense	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437418C>T	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.844C>T	1.37:g.44437418C>T	ENSP00000255108:p.Arg282Cys					DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Missense_Mutation_p.R147C|DPH2_uc001clb.2_Missense_Mutation_p.R206C	p.R282C	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN			4	1039	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	282					A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	c.844C>T	CCDS504.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	10.19	1.281842	0.23392	.	.	ENSG00000132768	ENST00000255108;ENST00000412950;ENST00000459879	T;T;T	0.48201	0.82;0.82;0.82	4.65	4.65	0.58169	.	0.582196	0.19771	N	0.106421	T	0.45013	0.1321	L	0.52573	1.65	0.46478	D	0.999067	D;D	0.71674	0.998;0.996	P;P	0.54815	0.761;0.659	T	0.51164	-0.8740	10	0.62326	D	0.03	-1.3712	10.1571	0.42829	0.1515:0.702:0.1465:0.0	.	147;282	B4DNI8;Q9BQC3	.;DPH2_HUMAN	C	282;147;55	ENSP00000255108:R282C;ENSP00000413862:R147C;ENSP00000432162:R55C	ENSP00000255108:R282C	R	+	1	0	DPH2	44210005	0.836000	0.29430	0.984000	0.44739	0.230000	0.25150	1.611000	0.36879	2.420000	0.82092	0.450000	0.29827	CGC		0.622	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		12	37	0	0	0	0	12	37				
PTCH2	8643	broad.mit.edu	37	1	45292235	45292235	+	Silent	SNP	G	G	C	rs371861016	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:45292235G>C	ENST00000372192.3	-	18	3031	c.2901C>G	c.(2899-2901)gcC>gcG	p.A967A	PTCH2_ENST00000447098.2_Silent_p.A967A	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	967					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGATGCAGACGGCCAGCAGGA	0.657									Basal Cell Nevus syndrome																													uc010olf.1		NA																	0				lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(2899-2901)GCC>GCG		patched 2							31.0	31.0	31.0					1																	45292235		2203	4300	6503	SO:0001819	synonymous_variant	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45292235G>C	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2901C>G	1.37:g.45292235G>C						PTCH2_uc010olg.1_Silent_p.A665A	p.A967A	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			18	2913	-	Acute lymphoblastic leukemia(166;0.155)		967			Helical; (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.2901C>G	CCDS516.1																																																																																				0.657	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		9	22	0	0	0	0	9	22				
CYP4A22	284541	broad.mit.edu	37	1	47614402	47614402	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:47614402C>T	ENST00000371891.3	+	12	1524	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	CYP4A22_ENST00000371890.3_Missense_Mutation_p.S400F|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	498						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGTTGAAATCCAAAAATGGA	0.582																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(1492-1494)TCC>TTC		cytochrome P450, family 4, subfamily A,							105.0	96.0	99.0					1																	47614402		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47614402C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1493C>T	1.37:g.47614402C>T	ENSP00000360958:p.Ser498Phe						p.S498F	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			12	1544	+			498					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.1493C>T	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	16.39	3.110477	0.56398	.	.	ENSG00000162365	ENST00000371890;ENST00000371891	T;T	0.69806	-0.43;-0.34	1.83	1.83	0.25207	.	0.056559	0.64402	D	0.000001	T	0.78220	0.4249	M	0.71296	2.17	0.26438	N	0.975821	D	0.89917	1.0	D	0.97110	1.0	T	0.69624	-0.5095	10	0.87932	D	0	.	11.9763	0.53094	0.0:1.0:0.0:0.0	.	498	Q5TCH4	CP4AM_HUMAN	F	400;498	ENSP00000360957:S400F;ENSP00000360958:S498F	ENSP00000360957:S400F	S	+	2	0	CYP4A22	47386989	0.995000	0.38212	0.114000	0.21550	0.263000	0.26337	6.183000	0.72002	1.014000	0.39417	0.405000	0.27470	TCC		0.582	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		17	63	0	0	0	0	17	63				
TAL1	6886	broad.mit.edu	37	1	47685629	47685629	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:47685629C>T	ENST00000294339.3	-	4	1335	c.759G>A	c.(757-759)cgG>cgA	p.R253R	TAL1_ENST00000371884.2_Silent_p.R253R|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Silent_p.R255R	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	253					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CAGTCTTGGCCCGCTGGGTGC	0.627			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	uc001cqx.2		NA		Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		0				lung(1)	1						c.(757-759)CGG>CGA		T-cell acute lymphocytic leukemia 1							17.0	17.0	17.0					1																	47685629		2203	4299	6502	SO:0001819	synonymous_variant	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685629C>T	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.759G>A	1.37:g.47685629C>T						TAL1_uc009vyq.2_Missense_Mutation_p.G10E|TAL1_uc001cqy.2_Silent_p.R253R	p.R253R	NM_003189	NP_003180	P17542	TAL1_HUMAN			4	1336	-			253					D3DQ24	Silent	SNP	ENST00000294339.3	37	c.759G>A	CCDS547.1																																																																																				0.627	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		5	12	0	0	0	0	5	12				
ORC1	4998	broad.mit.edu	37	1	52841197	52841197	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:52841197G>A	ENST00000371568.3	-	15	2426	c.2208C>T	c.(2206-2208)tcC>tcT	p.S736S	ORC1_ENST00000371566.1_Silent_p.S736S	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	736	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCTTCTGCTGGGAGAACTCAC	0.517																																						uc001ctt.2		NA																	0					0						c.(2206-2208)TCC>TCT		origin recognition complex, subunit 1							140.0	125.0	130.0					1																	52841197		2203	4300	6503	SO:0001819	synonymous_variant	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52841197G>A		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2208C>T	1.37:g.52841197G>A						ORC1L_uc010oni.1_Silent_p.S731S|ORC1L_uc001ctu.2_Silent_p.S736S|ORC1L_uc009vzd.2_Silent_p.S490S	p.S736S	NM_004153	NP_004144	Q13415	ORC1_HUMAN			15	2427	-			736			Necessary and sufficient for ORC complex assembly.		D3DQ34|Q13471|Q5T0F5	Silent	SNP	ENST00000371568.3	37	c.2208C>T	CCDS566.1																																																																																				0.517	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		18	51	0	0	0	0	18	51				
GPX7	2882	broad.mit.edu	37	1	53074034	53074035	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:53074034_53074035GG>AA	ENST00000361314.4	+	3	539_540	c.501_502GG>AA	c.(499-504)gaGGtc>gaAAtc	p.V168I		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	168					response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	CAGTGGAGGAGGTCAGACCCCA	0.574																																						uc001cue.2		NA																	0					0						c.(499-504)GAGGTC>GAAATC		glutathione peroxidase 7 precursor	Glutathione(DB00143)																																			SO:0001583	missense	2882				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr1:53074034_53074035GG>AA	AF091092	CCDS569.1	1p32	2008-02-05			ENSG00000116157	ENSG00000116157			4559	protein-coding gene	gene with protein product		615784				15294905	Standard	NM_015696		Approved	FLJ14777, GPX6, NPGPx	uc001cue.3	Q96SL4	OTTHUMG00000008322	Exception_encountered	1.37:g.53074034_53074035delinsAA	ENSP00000354677:p.Val168Ile						p.V168I	NM_015696	NP_056511	Q96SL4	GPX7_HUMAN			3	540_541	+			168					O95337|Q5T501	Missense_Mutation	DNP	ENST00000361314.4	37	c.501_502GG>AA	CCDS569.1																																																																																				0.574	GPX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022913.1	NM_015696		12	67	0	0	0	0	12	67				
TTC22	55001	broad.mit.edu	37	1	55252653	55252653	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:55252653C>A	ENST00000371276.4	-	4	938	c.835G>T	c.(835-837)Gac>Tac	p.D279Y	TTC22_ENST00000371274.4_Missense_Mutation_p.D279Y	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	279								p.D279N(2)		kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCTAGAGGGTCGGTCCCTGAG	0.642																																						uc009vzt.1		NA																	2	Substitution - Missense(2)		skin(2)		0						c.(835-837)GAC>TAC		tetratricopeptide repeat domain 22 isoform 1							28.0	27.0	27.0					1																	55252653		2203	4300	6503	SO:0001583	missense	55001						binding	g.chr1:55252653C>A	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.835G>T	1.37:g.55252653C>A	ENSP00000360323:p.Asp279Tyr					TTC22_uc001cxz.3_Missense_Mutation_p.D279Y	p.D279Y	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN			4	940	-			279			TPR 4.		Q9NWT4	Missense_Mutation	SNP	ENST00000371276.4	37	c.835G>T	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711149	0.48517	.	.	ENSG00000006555	ENST00000371276;ENST00000371274;ENST00000448308	T;T	0.32023	1.47;2.19	4.22	2.3	0.28687	Tetratricopeptide-like helical (1);	0.192050	0.42821	D	0.000643	T	0.30947	0.0781	L	0.32530	0.975	0.40876	D	0.983959	P;P	0.49783	0.745;0.928	P;P	0.49012	0.479;0.598	T	0.10989	-1.0606	10	0.66056	D	0.02	-26.9903	12.9994	0.58666	0.0:0.6885:0.3115:0.0	.	279;279	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	Y	279;279;60	ENSP00000360323:D279Y;ENSP00000360321:D279Y	ENSP00000360321:D279Y	D	-	1	0	TTC22	55025241	1.000000	0.71417	0.369000	0.25952	0.444000	0.32077	5.041000	0.64196	0.417000	0.25871	-0.175000	0.13238	GAC		0.642	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		6	8	1	0	0.00116845	0.00118027	6	8				
INADL	10207	broad.mit.edu	37	1	62503685	62503685	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:62503685C>A	ENST00000371158.2	+	30	4110	c.3996C>A	c.(3994-3996)ccC>ccA	p.P1332P	INADL_ENST00000316485.6_Silent_p.P1332P|INADL_ENST00000545929.1_Silent_p.P5P|INADL_ENST00000543708.1_Silent_p.P116P	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1332					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CCGTTACTCCCTTTCCAGTGC	0.393																																						uc001dab.2		NA																	0				ovary(3)|skin(1)	4						c.(3994-3996)CCC>CCA		InaD-like							193.0	158.0	170.0					1																	62503685		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62503685C>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3996C>A	1.37:g.62503685C>A						INADL_uc009waf.1_Silent_p.P1332P|INADL_uc001daa.2_Silent_p.P1332P|INADL_uc001dad.3_Silent_p.P1029P|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.P116P|INADL_uc009wag.2_Silent_p.P116P|INADL_uc010oou.1_Silent_p.P5P	p.P1332P	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			30	4110	+			1332					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.3996C>A	CCDS617.2																																																																																				0.393	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		16	40	1	0	9.17e-09	9.4e-09	16	40				
RAVER2	55225	broad.mit.edu	37	1	65255158	65255158	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:65255158C>T	ENST00000294428.3	+	5	1144	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F	RAVER2_ENST00000371072.4_Missense_Mutation_p.L356F|RAVER2_ENST00000430964.2_Missense_Mutation_p.L62F			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	356						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GTTGCAAGTTCTTCTACAGCC	0.368																																						uc001dbs.1		NA																	0				large_intestine(1)	1						c.(1066-1068)CTT>TTT		ribonucleoprotein, PTB-binding 2							121.0	108.0	112.0					1																	65255158		1862	4100	5962	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65255158C>T	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1066C>T	1.37:g.65255158C>T	ENSP00000294428:p.Leu356Phe					RAVER2_uc001dbt.1_Missense_Mutation_p.L235F|RAVER2_uc010opb.1_Missense_Mutation_p.L235F	p.L356F	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN			5	1144	+			356					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1066C>T		.	.	.	.	.	.	.	.	.	.	C	17.54	3.414652	0.62511	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.38240	1.15;1.2	4.9	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.64404	1.975	0.41592	D	0.988805	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.16305	-1.0407	10	0.26408	T	0.33	-19.4535	9.2007	0.37256	0.0:0.8095:0.0:0.1905	.	356;356	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	F	356;356;62	ENSP00000360112:L356F;ENSP00000294428:L356F	ENSP00000294428:L356F	L	+	1	0	RAVER2	65027746	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.993000	0.40747	2.261000	0.74972	0.591000	0.81541	CTT		0.368	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		18	41	0	0	0	0	18	41				
LEPR	3953	broad.mit.edu	37	1	66031281	66031281	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:66031281A>T	ENST00000349533.6	+	3	218	c.33A>T	c.(31-33)ttA>ttT	p.L11F	LEPR_ENST00000371060.3_Missense_Mutation_p.L11F|LEPR_ENST00000371059.3_Missense_Mutation_p.L11F|LEPR_ENST00000344610.8_Missense_Mutation_p.L11F|LEPR_ENST00000371058.1_Missense_Mutation_p.L11F|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGTTTTGTTACATTGGGGTA	0.323																																						uc001dci.2		NA																	0				skin(1)	1						c.(31-33)TTA>TTT		leptin receptor isoform 1							194.0	173.0	180.0					1																	66031281		2201	4299	6500	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66031281A>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.33A>T	1.37:g.66031281A>T	ENSP00000330393:p.Leu11Phe					LEPR_uc001dcg.2_Missense_Mutation_p.L11F|LEPR_uc001dch.2_Missense_Mutation_p.L11F|LEPR_uc009waq.2_Missense_Mutation_p.L11F|LEPR_uc001dcj.2_Missense_Mutation_p.L11F|LEPR_uc001dck.2_Missense_Mutation_p.L11F	p.L11F	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	3	235	+			11					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.33A>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.362804	0.41902	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.57273	0.44;0.44;0.44;0.41;0.44	5.36	-1.12	0.09808	.	0.568681	0.18829	N	0.130017	T	0.38374	0.1038	M	0.68952	2.095	0.43512	D	0.995772	B;P;P;P	0.43973	0.402;0.514;0.646;0.823	B;B;B;P	0.48141	0.232;0.202;0.39;0.568	T	0.41770	-0.9490	10	0.72032	D	0.01	-3.3183	5.2324	0.15430	0.3749:0.1819:0.4432:0.0	.	11;11;11;11	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	F	11	ENSP00000340884:L11F;ENSP00000330393:L11F;ENSP00000360099:L11F;ENSP00000360098:L11F;ENSP00000360097:L11F	ENSP00000340884:L11F	L	+	3	2	LEPR	65803869	0.062000	0.20869	0.604000	0.28916	0.816000	0.46133	-0.325000	0.07976	0.110000	0.17919	0.377000	0.23210	TTA		0.323	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		10	41	0	0	0	0	10	41				
ERICH3	127254	broad.mit.edu	37	1	75037433	75037433	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:75037433C>T	ENST00000326665.5	-	14	4179	c.3961G>A	c.(3961-3963)Gaa>Aaa	p.E1321K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1321	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTCCTTCCATGTCCCCG	0.562																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3961-3963)GAA>AAA		hypothetical protein LOC127254							278.0	246.0	257.0					1																	75037433		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037433C>T																												ENST00000326665.5:c.3961G>A	1.37:g.75037433C>T	ENSP00000322609:p.Glu1321Lys						p.E1321K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4180	-			1321			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3961G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.378556	0.01204	.	.	ENSG00000178965	ENST00000326665	T	0.13657	2.57	1.45	0.399	0.16325	.	.	.	.	.	T	0.01092	0.0036	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47355	-0.9124	9	0.07325	T	0.83	.	7.1738	0.25732	0.0:0.7167:0.2833:0.0	.	1321	Q5RHP9	CA173_HUMAN	K	1321	ENSP00000322609:E1321K	ENSP00000322609:E1321K	E	-	1	0	C1orf173	74810021	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.170000	0.09897	-0.685000	0.05177	-0.676000	0.03789	GAA		0.562	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			22	79	0	0	0	0	22	79				
ERICH3	127254	broad.mit.edu	37	1	75038398	75038398	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:75038398C>T	ENST00000326665.5	-	14	3214	c.2996G>A	c.(2995-2997)gGa>gAa	p.G999E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		999	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTGCCTCTCCTGTGAAGGG	0.537																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2995-2997)GGA>GAA		hypothetical protein LOC127254							102.0	91.0	95.0					1																	75038398		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038398C>T																												ENST00000326665.5:c.2996G>A	1.37:g.75038398C>T	ENSP00000322609:p.Gly999Glu						p.G999E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3215	-			999			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2996G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838462	0.32513	.	.	ENSG00000178965	ENST00000326665	T	0.11930	2.73	4.87	-0.47	0.12131	.	.	.	.	.	T	0.01976	0.0062	N	0.22421	0.69	0.09310	N	0.999999	B	0.09022	0.002	B	0.13407	0.009	T	0.48328	-0.9045	9	0.16420	T	0.52	-2.6879	4.6827	0.12743	0.1489:0.3392:0.0:0.5119	.	999	Q5RHP9	CA173_HUMAN	E	999	ENSP00000322609:G999E	ENSP00000322609:G999E	G	-	2	0	C1orf173	74810986	0.000000	0.05858	0.020000	0.16555	0.018000	0.09664	-0.321000	0.08018	0.014000	0.14944	0.462000	0.41574	GGA		0.537	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			17	40	0	0	0	0	17	40				
ERICH3	127254	broad.mit.edu	37	1	75072544	75072544	+	Silent	SNP	C	C	T	rs375773806		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:75072544C>T	ENST00000326665.5	-	10	1448	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.P213P	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		410								p.P410P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGATTTCGGCAAAGACG	0.413																																						uc001dgg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1228-1230)CCG>CCA		hypothetical protein LOC127254		T		0,4406		0,0,2203	115.0	111.0	113.0		1230	0.4	0.0	1		113	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	C1orf173	NM_001002912.4		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		410/1531	75072544	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	127254							g.chr1:75072544C>T																												ENST00000326665.5:c.1230G>A	1.37:g.75072544C>T						uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.P204P	p.P410P	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			10	1449	-			410					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.1230G>A	CCDS30755.1																																																																																				0.413	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			25	84	0	0	0	0	25	84				
PIGK	10026	broad.mit.edu	37	1	77627083	77627083	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:77627083G>A	ENST00000370812.3	-	8	733	c.710C>T	c.(709-711)cCt>cTt	p.P237L	PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.P161L|PIGK_ENST00000445065.1_Missense_Mutation_p.P143L|PIGK_ENST00000359130.1_Missense_Mutation_p.P237L	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	237					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TGCAGGATCAGGTTGATGCTA	0.313																																						uc001dhk.2		NA																	0				ovary(2)|pancreas(1)	3						c.(709-711)CCT>CTT		phosphatidylinositol glycan anchor biosynthesis,							72.0	72.0	72.0					1																	77627083		2203	4300	6503	SO:0001583	missense	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77627083G>A	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.710C>T	1.37:g.77627083G>A	ENSP00000359848:p.Pro237Leu					PIGK_uc010orj.1_Missense_Mutation_p.P161L|PIGK_uc009wbx.2_Missense_Mutation_p.P143L|PIGK_uc001dhl.1_Missense_Mutation_p.P237L	p.P237L	NM_005482	NP_005473	Q92643	GPI8_HUMAN			8	755	-			237			Lumenal (Potential).		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	c.710C>T	CCDS674.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343257	0.24339	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.42513	0.97;0.99;0.99;0.99	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.10766	0.0263	N	0.03154	-0.405	0.80722	D	1	B;B;B;B	0.11235	0.004;0.004;0.0;0.001	B;B;B;B	0.20577	0.03;0.03;0.0;0.003	T	0.13202	-1.0518	10	0.11485	T	0.65	-29.0171	18.3397	0.90300	0.0:0.0:1.0:0.0	.	161;143;237;237	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	L	237;143;161;237	ENSP00000359848:P237L;ENSP00000388854:P143L;ENSP00000359849:P161L;ENSP00000352041:P237L	ENSP00000352041:P237L	P	-	2	0	PIGK	77399671	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.295000	0.78780	2.396000	0.81511	0.563000	0.77884	CCT		0.313	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		8	25	0	0	0	0	8	25				
LPHN2	23266	broad.mit.edu	37	1	82408872	82408872	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:82408872G>A	ENST00000370728.1	+	8	1262	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	LPHN2_ENST00000370721.1_Missense_Mutation_p.R210Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R206Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R206Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R206Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R206Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R206Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R206Q			O95490	LPHN2_HUMAN	latrophilin 2	206	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTCCAAATCGAGTAGATGGT	0.363																																						uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(616-618)CGA>CAA		latrophilin 2 precursor							109.0	110.0	110.0					1																	82408872		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82408872G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.617G>A	1.37:g.82408872G>A	ENSP00000359763:p.Arg206Gln					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.R206Q|LPHN2_uc001div.2_Missense_Mutation_p.R206Q|LPHN2_uc009wcd.2_Missense_Mutation_p.R206Q	p.R206Q	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	798	+			206			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.617G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.486995|3.486995	0.63962|0.63962	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.88664	.|-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.9|5.9	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86401|0.86401	0.5924|0.5924	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.58620	.|0.983;0.982;0.983	.|P;B;P	.|0.51135	.|0.66;0.345;0.66	D|D	0.86740|0.86740	0.1954|0.1954	5|10	.|0.46703	.|T	.|0.11	.|.	15.256|15.256	0.73585|0.73585	0.0671:0.0:0.9329:0.0|0.0671:0.0:0.9329:0.0	.|.	.|206;206;206	.|O95490-3;O95490-4;O95490-2	.|.;.;.	K|Q	74|210;206;206;206;206;206;206;206;206;206;206;206;206;206	.|ENSP00000359756:R210Q;ENSP00000359763:R206Q;ENSP00000359765:R206Q;ENSP00000359762:R206Q;ENSP00000359760:R206Q;ENSP00000359758:R206Q;ENSP00000353006:R206Q;ENSP00000359750:R206Q;ENSP00000359748:R206Q;ENSP00000322270:R206Q;ENSP00000359752:R206Q;ENSP00000378344:R206Q;ENSP00000271029:R206Q;ENSP00000337306:R206Q	.|ENSP00000271029:R206Q	E|R	+|+	1|2	0|0	LPHN2|LPHN2	82181460|82181460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.869000|9.869000	0.99810|0.99810	1.496000|1.496000	0.48567|0.48567	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.363	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		20	28	0	0	0	0	20	28				
MCOLN3	55283	broad.mit.edu	37	1	85486956	85486956	+	Missense_Mutation	SNP	G	G	A	rs139077973		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:85486956G>A	ENST00000370589.2	-	12	1376	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	MCOLN3_ENST00000341115.4_Missense_Mutation_p.R386C|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	442					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R442C(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TTCAGAGAACGAAACTGGAAA	0.368																																						uc001dkp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1324-1326)CGT>TGT		mucolipin 3							60.0	61.0	61.0					1																	85486956		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85486956G>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1324C>T	1.37:g.85486956G>A	ENSP00000359621:p.Arg442Cys					MCOLN3_uc001dko.2_Missense_Mutation_p.R61C|MCOLN3_uc001dkq.2_Missense_Mutation_p.R386C	p.R442C	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	12	1417	-			442					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1324C>T	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339301	0.81911	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.71817	-0.6;-0.6	5.76	5.76	0.90799	Polycystin cation channel, PKD1/PKD2 (1);	0.103037	0.64402	D	0.000003	D	0.83617	0.5293	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.85809	0.1378	10	0.72032	D	0.01	-25.1971	14.7674	0.69648	0.0:0.0:0.8556:0.1444	.	386;442	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	C	442;442;386;386	ENSP00000359621:R442C;ENSP00000342698:R386C	ENSP00000304843:R442C	R	-	1	0	MCOLN3	85259544	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.458000	0.66679	2.718000	0.92993	0.655000	0.94253	CGT		0.368	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		15	49	0	0	0	0	15	49				
COL24A1	255631	broad.mit.edu	37	1	86315049	86315049	+	Missense_Mutation	SNP	C	C	T	rs367868461		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:86315049C>T	ENST00000370571.2	-	38	3707	c.3341G>A	c.(3340-3342)cGt>cAt	p.R1114H	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1114H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1114					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCTGGACGACCTCTTTG	0.348																																						uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3340-3342)CGT>CAT		collagen, type XXIV, alpha 1 precursor		C	HIS/ARG	1,3621		0,1,1810	93.0	89.0	90.0		3341	3.3	1.0	1		90	1,8141		0,1,4070	no	missense	COL24A1	NM_152890.5	29	0,2,5880	TT,TC,CC		0.0123,0.0276,0.017	probably-damaging	1114/1715	86315049	2,11762	1811	4071	5882	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86315049C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3341G>A	1.37:g.86315049C>T	ENSP00000359603:p.Arg1114His					COL24A1_uc001dli.2_Missense_Mutation_p.R250H|COL24A1_uc010osd.1_Missense_Mutation_p.R414H|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.R1114H	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	38	3383	-			1114					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3341G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	6.562	0.471983	0.12461	2.76E-4	1.23E-4	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.98329	-3.24;-4.87	5.19	3.32	0.38043	.	0.658852	0.12602	N	0.454597	D	0.94212	0.8142	L	0.47190	1.495	0.45427	D	0.998409	B;B	0.33964	0.434;0.247	B;B	0.34779	0.189;0.119	D	0.90934	0.4792	10	0.44086	T	0.13	.	10.5498	0.45081	0.0:0.8386:0.0:0.1614	.	1114;1114	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	H	1114	ENSP00000359603:R1114H;ENSP00000392531:R1114H	ENSP00000359603:R1114H	R	-	2	0	COL24A1	86087637	1.000000	0.71417	0.959000	0.39883	0.288000	0.27193	2.539000	0.45718	0.590000	0.29694	0.305000	0.20034	CGT		0.348	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		21	83	0	0	0	0	21	83				
CLCA1	1179	broad.mit.edu	37	1	86939149	86939149	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:86939149G>A	ENST00000234701.3	+	3	563	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	CLCA1_ENST00000394711.1_Missense_Mutation_p.R71Q			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	71	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.R71P(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ACAGGAAAGCGATTTTATTTC	0.358																																						uc001dlt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(211-213)CGA>CAA		chloride channel accessory 1 precursor							66.0	66.0	66.0					1																	86939149		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86939149G>A		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.212G>A	1.37:g.86939149G>A	ENSP00000234701:p.Arg71Gln					CLCA1_uc001dls.1_Intron	p.R71Q	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	2	341	+		Lung NSC(277;0.239)	71					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.212G>A	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536897	0.65085	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.21543	2.0;2.0	5.56	4.59	0.56863	Chloride channel calcium-activated (1);	0.147343	0.49305	D	0.000160	T	0.44871	0.1314	M	0.93016	3.37	0.29114	N	0.880709	D	0.76494	0.999	D	0.70935	0.971	T	0.46610	-0.9179	10	0.87932	D	0	-28.6918	13.5778	0.61885	0.0:0.0:0.845:0.155	.	71	A8K7I4	CLCA1_HUMAN	Q	71	ENSP00000234701:R71Q;ENSP00000378200:R71Q	ENSP00000234701:R71Q	R	+	2	0	CLCA1	86711737	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.739000	0.47409	2.776000	0.95493	0.655000	0.94253	CGA		0.358	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		17	31	0	0	0	0	17	31				
RBMXL1	494115	broad.mit.edu	37	1	89448465	89448465	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:89448465G>A	ENST00000321792.5	-	2	1472	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.P349S|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	349	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										ACAGAAGGGGGAAGCCCTCTT	0.537																																						uc009wcx.2		NA																	0					0						c.(1045-1047)CCC>TCC		RNA binding motif protein, X-linked-like 1							150.0	153.0	152.0					1																	89448465		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448465G>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.1045C>T	1.37:g.89448465G>A	ENSP00000318415:p.Pro349Ser					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.P349S	p.P349S	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN			3	1761	-			349			Ser-rich.			Missense_Mutation	SNP	ENST00000321792.5	37	c.1045C>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117386	0.20877	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.79033	-1.23;-1.23	1.89	1.89	0.25635	.	0.062093	0.64402	D	0.000004	T	0.52725	0.1752	L	0.50333	1.59	0.28065	N	0.9328	B	0.34103	0.437	B	0.32090	0.14	T	0.47497	-0.9113	10	0.44086	T	0.13	-7.126	9.4029	0.38444	0.0:0.0:1.0:0.0	.	349	Q96E39	RBMXL_HUMAN	S	349	ENSP00000318415:P349S;ENSP00000446099:P349S	ENSP00000318415:P349S	P	-	1	0	RBMXL1	89221053	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	2.377000	0.44300	1.059000	0.40554	0.306000	0.20318	CCC		0.537	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		47	133	0	0	0	0	47	133				
TGFBR3	7049	broad.mit.edu	37	1	92187698	92187698	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:92187698G>A	ENST00000525962.1	-	7	950	c.889C>T	c.(889-891)Cct>Tct	p.P297S	TGFBR3_ENST00000370399.2_Missense_Mutation_p.P297S|TGFBR3_ENST00000212355.4_Missense_Mutation_p.P297S			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	297					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATACTGTTAGGAGCCTGAAGA	0.308																																						uc001doh.2		NA																	0				ovary(3)	3						c.(889-891)CCT>TCT		transforming growth factor, beta receptor III							76.0	72.0	74.0					1																	92187698		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92187698G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.889C>T	1.37:g.92187698G>A	ENSP00000436127:p.Pro297Ser					TGFBR3_uc009wde.2_Missense_Mutation_p.P75S|TGFBR3_uc010osy.1_Missense_Mutation_p.P255S|TGFBR3_uc001doi.2_Missense_Mutation_p.P297S|TGFBR3_uc001doj.2_Missense_Mutation_p.P297S	p.P297S	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	8	1355	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	297			Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.889C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	4.935	0.173714	0.09391	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.22	5.22	0.72569	.	0.182520	0.51477	D	0.000082	T	0.04588	0.0125	N	0.19112	0.55	0.37226	D	0.90547	B;B;B	0.24258	0.007;0.1;0.027	B;B;B	0.26310	0.01;0.068;0.014	T	0.24728	-1.0152	10	0.02654	T	1	-14.2835	6.2708	0.20953	0.1199:0.1859:0.6942:0.0	.	297;297;297	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	S	297	ENSP00000212355:P297S;ENSP00000359426:P297S;ENSP00000436127:P297S;ENSP00000432638:P297S	ENSP00000212355:P297S	P	-	1	0	TGFBR3	91960286	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.566000	0.36396	2.612000	0.88384	0.462000	0.41574	CCT		0.308	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		11	26	0	0	0	0	11	26				
C1orf146	388649	broad.mit.edu	37	1	92709803	92709803	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:92709803G>A	ENST00000370375.3	+	4	338	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	C1orf146_ENST00000370373.2_Missense_Mutation_p.E5K	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	64								p.E64K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		GGATACTAAGGAATGTCTTCT	0.299																																						uc001doq.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(190-192)GAA>AAA		hypothetical protein LOC388649							42.0	46.0	44.0					1																	92709803		2201	4298	6499	SO:0001583	missense	388649							g.chr1:92709803G>A		CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.190G>A	1.37:g.92709803G>A	ENSP00000359401:p.Glu64Lys					C1orf146_uc010ote.1_Missense_Mutation_p.E5K	p.E64K	NM_001012425	NP_001012425	Q5VVC0	CA146_HUMAN		all cancers(265;0.00846)|Epithelial(280;0.0952)	4	262	+		all_lung(203;0.00528)|Lung NSC(277;0.0193)	64					Q5VVC4	Missense_Mutation	SNP	ENST00000370375.3	37	c.190G>A	CCDS30772.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230367	0.39399	.	.	ENSG00000203910	ENST00000370375;ENST00000370373	.	.	.	5.64	4.73	0.59995	.	0.296315	0.31279	N	0.007935	T	0.26484	0.0647	L	0.29908	0.895	0.32003	N	0.60306	B	0.10296	0.003	B	0.11329	0.006	T	0.20273	-1.0280	9	0.54805	T	0.06	-4.4908	14.9857	0.71345	0.0679:0.0:0.9321:0.0	.	64	Q5VVC0	CA146_HUMAN	K	64;43	.	ENSP00000359399:E43K	E	+	1	0	C1orf146	92482391	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	3.981000	0.56902	1.627000	0.50400	0.650000	0.86243	GAA		0.299	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425		13	35	0	0	0	0	13	35				
ABCA4	24	broad.mit.edu	37	1	94487499	94487499	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:94487499C>T	ENST00000370225.3	-	33	4762	c.4676G>A	c.(4675-4677)gGa>gAa	p.G1559E		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1559					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AATGGAAATTCCTCCATACCT	0.512																																						uc001dqh.2		NA																	0		p.G1559*(1)		ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(4675-4677)GGA>GAA		ATP-binding cassette, sub-family A member 4							51.0	51.0	51.0					1																	94487499		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94487499C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4676G>A	1.37:g.94487499C>T	ENSP00000359245:p.Gly1559Glu						p.G1559E	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	33	4780	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1559			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.4676G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143049	0.94560	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.95205	-3.64	6.07	6.07	0.98685	.	0.104213	0.64402	D	0.000003	D	0.94663	0.8279	M	0.83483	2.645	0.80722	D	1	P	0.45594	0.862	B	0.42462	0.388	D	0.95072	0.8205	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1559	P78363	ABCA4_HUMAN	E	351;1559	ENSP00000359245:G1559E	ENSP00000359245:G1559E	G	-	2	0	ABCA4	94260087	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.075000	0.76798	2.885000	0.99019	0.655000	0.94253	GGA		0.512	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		8	36	0	0	0	0	8	36				
FRRS1	391059	broad.mit.edu	37	1	100212952	100212952	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:100212952G>A	ENST00000414213.1	-	4	832	c.231C>T	c.(229-231)ctC>ctT	p.L77L	FRRS1_ENST00000287474.5_Silent_p.L77L			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	77	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GCGCTTCTAGGAGAAAGCCTT	0.388																																						uc001dsh.1		NA																	0				skin(1)	1						c.(229-231)CTC>CTT		stromal cell derived factor receptor 2 homolog							132.0	133.0	133.0					1																	100212952		2203	4300	6503	SO:0001819	synonymous_variant	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100212952G>A	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.231C>T	1.37:g.100212952G>A							p.L77L	NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	4	833	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	77			Reelin.		A6NLN7	Silent	SNP	ENST00000414213.1	37	c.231C>T																																																																																					0.388	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		39	99	0	0	0	0	39	99				
DBT	1629	broad.mit.edu	37	1	100715333	100715333	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:100715333C>T	ENST00000370132.4	-	1	57	c.44G>A	c.(43-45)gGg>gAg	p.G15E	DBT_ENST00000370131.3_Missense_Mutation_p.G15E	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	15					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TACCAGCTTCCCCGCATTCCT	0.582																																						uc001dta.2		NA																	0				pancreas(1)	1						c.(43-45)GGG>GAG		dihydrolipoamide branched chain transacylase							119.0	103.0	109.0					1																	100715333		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100715333C>T	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.44G>A	1.37:g.100715333C>T	ENSP00000359151:p.Gly15Glu					DBT_uc010oug.1_5'UTR	p.G15E	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	1	77	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	15					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.44G>A	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070867	0.36566	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.30182	1.56;1.54	5.11	4.17	0.49024	.	0.843593	0.10652	N	0.649821	T	0.09024	0.0223	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29822	-0.9999	10	0.37606	T	0.19	1.0071	11.9979	0.53214	0.1797:0.8203:0.0:0.0	.	15	P11182	ODB2_HUMAN	E	15	ENSP00000359151:G15E;ENSP00000359150:G15E	ENSP00000359150:G15E	G	-	2	0	DBT	100487921	0.050000	0.20438	0.005000	0.12908	0.054000	0.15201	2.077000	0.41557	1.441000	0.47550	0.655000	0.94253	GGG		0.582	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		9	41	0	0	0	0	9	41				
COL11A1	1301	broad.mit.edu	37	1	103412481	103412481	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:103412481G>A	ENST00000370096.3	-	42	3512	c.3200C>T	c.(3199-3201)aCa>aTa	p.T1067I	COL11A1_ENST00000358392.2_Missense_Mutation_p.T1079I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T951I|COL11A1_ENST00000353414.4_Missense_Mutation_p.T1028I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1067	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGGCCAGCTGTACCTGCTGA	0.458																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3199-3201)ACA>ATA		alpha 1 type XI collagen isoform A							37.0	36.0	36.0					1																	103412481		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103412481G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3200C>T	1.37:g.103412481G>A	ENSP00000359114:p.Thr1067Ile					COL11A1_uc001duk.2_Missense_Mutation_p.T263I|COL11A1_uc001dum.2_Missense_Mutation_p.T1079I|COL11A1_uc001dun.2_Missense_Mutation_p.T1028I|COL11A1_uc009weh.2_Missense_Mutation_p.T951I	p.T1067I	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	42	3518	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1067			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3200C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998658	0.54147	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.94280	-3.24;-3.24;-3.39;-3.24	5.51	5.51	0.81932	.	0.250550	0.41396	D	0.000898	T	0.79639	0.4480	N	0.05031	-0.125	0.26341	N	0.977369	B;B;B;B;B	0.33583	0.095;0.131;0.418;0.183;0.078	B;B;B;B;B	0.29077	0.098;0.059;0.085;0.039;0.059	T	0.77555	-0.2544	10	0.62326	D	0.03	.	19.0317	0.92960	0.0:0.0:1.0:0.0	.	951;1028;1079;1067;287	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	I	1067;1079;1028;287;951	ENSP00000359114:T1067I;ENSP00000351163:T1079I;ENSP00000302551:T1028I;ENSP00000426533:T951I	ENSP00000302551:T1028I	T	-	2	0	COL11A1	103185069	1.000000	0.71417	0.989000	0.46669	0.928000	0.56348	5.594000	0.67557	2.580000	0.87095	0.650000	0.86243	ACA		0.458	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		3	19	0	0	0	0	3	19				
COL11A1	1301	broad.mit.edu	37	1	103427456	103427456	+	Missense_Mutation	SNP	C	C	T	rs149000575		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:103427456C>T	ENST00000370096.3	-	41	3446	c.3134G>A	c.(3133-3135)gGa>gAa	p.G1045E	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1057E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G929E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1006E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1045	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTCCCCTCCTTTCAGTCC	0.388																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3133-3135)GGA>GAA		alpha 1 type XI collagen isoform A							55.0	54.0	54.0					1																	103427456		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103427456C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3134G>A	1.37:g.103427456C>T	ENSP00000359114:p.Gly1045Glu					COL11A1_uc001duk.2_Missense_Mutation_p.G241E|COL11A1_uc001dum.2_Missense_Mutation_p.G1057E|COL11A1_uc001dun.2_Missense_Mutation_p.G1006E|COL11A1_uc009weh.2_Missense_Mutation_p.G929E	p.G1045E	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	41	3452	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1045			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3134G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021680	0.75275	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99429	-5.89;-5.89;-5.89;-5.89	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.99834	0.9925	H	0.98818	4.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.998	D	0.96751	0.9554	10	0.87932	D	0	.	19.7422	0.96237	0.0:1.0:0.0:0.0	.	929;1006;1057;1045;265	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	E	1045;1057;1006;265;929	ENSP00000359114:G1045E;ENSP00000351163:G1057E;ENSP00000302551:G1006E;ENSP00000426533:G929E	ENSP00000302551:G1006E	G	-	2	0	COL11A1	103200044	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.475000	0.81041	2.666000	0.90696	0.650000	0.86243	GGA		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	36	0	0	0	0	5	36				
COL11A1	1301	broad.mit.edu	37	1	103548459	103548459	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:103548459C>T	ENST00000370096.3	-	2	488	c.176G>A	c.(175-177)gGa>gAa	p.G59E	COL11A1_ENST00000358392.2_Missense_Mutation_p.G59E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G59E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G59E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	59					cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTGCAAAATCCCGTTGTTTT	0.373																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(175-177)GGA>GAA		alpha 1 type XI collagen isoform A							129.0	129.0	129.0					1																	103548459		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103548459C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.176G>A	1.37:g.103548459C>T	ENSP00000359114:p.Gly59Glu					COL11A1_uc001dum.2_Missense_Mutation_p.G59E|COL11A1_uc001dun.2_Missense_Mutation_p.G59E|COL11A1_uc009weh.2_Missense_Mutation_p.G59E	p.G59E	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	2	494	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	59			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.176G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062706	0.76187	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	T;T;T;T;T	0.03663	3.85;3.85;3.85;3.85;3.85	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18800	0.0451	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.02015	-1.1229	10	0.87932	D	0	.	19.8365	0.96659	0.0:1.0:0.0:0.0	.	59;59;59;59	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	E	59	ENSP00000359114:G59E;ENSP00000351163:G59E;ENSP00000302551:G59E;ENSP00000426533:G59E;ENSP00000408640:G59E	ENSP00000302551:G59E	G	-	2	0	COL11A1	103321047	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.818000	0.86416	2.694000	0.91930	0.467000	0.42956	GGA		0.373	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		20	48	0	0	0	0	20	48				
CELSR2	1952	broad.mit.edu	37	1	109793177	109793177	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:109793177G>A	ENST00000271332.3	+	1	537	c.476G>A	c.(475-477)gGg>gAg	p.G159E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	159					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCAGGGCAGGGGAAAGGTCA	0.642																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(475-477)GGG>GAG		cadherin EGF LAG seven-pass G-type receptor 2							40.0	53.0	49.0					1																	109793177		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793177G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.476G>A	1.37:g.109793177G>A	ENSP00000271332:p.Gly159Glu						p.G159E	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	537	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	159			Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.476G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	4.714	0.132839	0.09032	.	.	ENSG00000143126	ENST00000271332	T	0.65732	-0.17	5.52	3.41	0.39046	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19549	-1.0302	9	0.17369	T	0.5	.	6.5698	0.22533	0.3634:0.0:0.6366:0.0	.	159	Q9HCU4	CELR2_HUMAN	E	159	ENSP00000271332:G159E	ENSP00000271332:G159E	G	+	2	0	CELSR2	109594700	0.000000	0.05858	0.835000	0.33067	0.142000	0.21351	0.241000	0.18065	1.351000	0.45789	0.555000	0.69702	GGG		0.642	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		7	27	0	0	0	0	7	27				
AMIGO1	57463	broad.mit.edu	37	1	110051361	110051361	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:110051361G>A	ENST00000369864.4	-	2	523	c.174C>T	c.(172-174)tcC>tcT	p.S58S	AMIGO1_ENST00000369862.1_Silent_p.S58S					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AACTGGGCAAGGAATGGGGCA	0.642																																						uc001dxx.3		NA																	0				ovary(1)|breast(1)	2						c.(172-174)TCC>TCT		AMIGO protein precursor							63.0	60.0	61.0					1																	110051361		2203	4300	6503	SO:0001819	synonymous_variant	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110051361G>A		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.174C>T	1.37:g.110051361G>A							p.S58S	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	556	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	58			LRRNT.|Extracellular (Potential).			Silent	SNP	ENST00000369864.4	37	c.174C>T	CCDS30795.1																																																																																				0.642	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		8	30	0	0	0	0	8	30				
STRIP1	85369	broad.mit.edu	37	1	110590435	110590435	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:110590435A>T	ENST00000369795.3	+	15	1627	c.1605A>T	c.(1603-1605)tcA>tcT	p.S535S	STRIP1_ENST00000369796.1_Silent_p.S440S|STRIP1_ENST00000461054.1_3'UTR	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	535					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CACCCACCTCAAAAGCCAAAA	0.502																																						uc001dza.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(1603-1605)TCA>TCT		hypothetical protein LOC85369							90.0	73.0	79.0					1																	110590435		2199	4297	6496	SO:0001819	synonymous_variant	85369					nucleus	protein binding	g.chr1:110590435A>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1605A>T	1.37:g.110590435A>T						FAM40A_uc001dyz.1_Silent_p.S440S|FAM40A_uc009wfp.1_Silent_p.S359S	p.S535S	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)	15	1624	+		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	535					Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Silent	SNP	ENST00000369795.3	37	c.1605A>T	CCDS30798.1																																																																																				0.502	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		2	2	0	0	0	0	2	2				
KCNC4	3749	broad.mit.edu	37	1	110754452	110754452	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:110754452C>T	ENST00000369787.3	+	1	358	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	KCNC4_ENST00000438661.2_Missense_Mutation_p.R111C|KCNC4_ENST00000413138.3_Missense_Mutation_p.R111C|KCNC4-AS1_ENST00000455967.1_RNA	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	111					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAACTACTACCGCACCGGCAA	0.682																																						uc001dzh.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(331-333)CGC>TGC		Shaw-related voltage-gated potassium channel							40.0	46.0	44.0					1																	110754452		2203	4299	6502	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754452C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.331C>T	1.37:g.110754452C>T	ENSP00000358802:p.Arg111Cys					KCNC4_uc001dzf.2_Missense_Mutation_p.R111C|KCNC4_uc009wfr.2_Missense_Mutation_p.R111C|KCNC4_uc001dzg.2_Missense_Mutation_p.R111C|KCNC4_uc001dzi.2_RNA	p.R111C	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	388	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	111			Cytoplasmic (Potential).		Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.331C>T	CCDS821.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074798	0.76415	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	T;T;T	0.80824	-1.42;-1.42;-1.42	4.15	4.15	0.48705	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	H	0.96489	3.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.997;1.0	D	0.94690	0.7873	10	0.87932	D	0	.	16.0484	0.80735	0.0:1.0:0.0:0.0	.	111;111;111	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	C	111	ENSP00000358802:R111C;ENSP00000388029:R111C;ENSP00000393655:R111C	ENSP00000358802:R111C	R	+	1	0	KCNC4	110555975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.580000	0.60942	1.871000	0.54225	0.561000	0.74099	CGC		0.682	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		13	31	0	0	0	0	13	31				
KCNA2	3737	broad.mit.edu	37	1	111147020	111147020	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111147020C>T	ENST00000485317.1	-	3	1058	c.385G>A	c.(385-387)Gat>Aat	p.D129N	KCNA2_ENST00000440270.1_Missense_Mutation_p.D129N|KCNA2_ENST00000316361.4_Missense_Mutation_p.D129N|KCNA2_ENST00000369770.3_Missense_Mutation_p.D129N|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	129					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TAGCCTTCATCTTCCCGAAAC	0.488																																					Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	0				ovary(1)	1						c.(385-387)GAT>AAT		potassium voltage-gated channel, shaker-related							52.0	51.0	52.0					1																	111147020		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147020C>T	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.385G>A	1.37:g.111147020C>T	ENSP00000433109:p.Asp129Asn					KCNA2_uc009wfv.1_Missense_Mutation_p.D129N|KCNA2_uc009wfw.2_Missense_Mutation_p.D129N	p.D129N	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	881	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	129					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.385G>A	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314267	0.81358	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.95	5.95	0.96441	BTB/POZ-like (1);BTB/POZ fold (2);	0.047615	0.85682	D	0.000000	D	0.88683	0.6503	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.973;0.997	D	0.88843	0.3314	10	0.87932	D	0	.	20.3923	0.98948	0.0:1.0:0.0:0.0	.	129;129	Q86XG6;P16389	.;KCNA2_HUMAN	N	129	ENSP00000358785:D129N;ENSP00000433109:D129N;ENSP00000415257:D129N;ENSP00000314520:D129N	ENSP00000314520:D129N	D	-	1	0	KCNA2	110948543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.754000	0.85163	2.831000	0.97527	0.609000	0.83330	GAT		0.488	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		11	37	0	0	0	0	11	37				
KCNA3	3738	broad.mit.edu	37	1	111216580	111216580	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111216580G>A	ENST00000369769.2	-	1	1075	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	284					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CTCCTGCGCGGGACCCCGACG	0.627																																						uc001dzv.1		NA																	0				ovary(4)|pancreas(1)	5						c.(850-852)TCC>TCT		potassium voltage-gated channel, shaker-related							55.0	58.0	57.0					1																	111216580		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216580G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.852C>T	1.37:g.111216580G>A							p.S284S	NM_002232	NP_002223	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1076	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	284					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.852C>T	CCDS828.2																																																																																				0.627	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		11	54	0	0	0	0	11	54				
CHIA	27159	broad.mit.edu	37	1	111861776	111861776	+	Missense_Mutation	SNP	G	G	A	rs139812869	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111861776G>A	ENST00000369740.1	+	10	1053	c.950G>A	c.(949-951)gGa>gAa	p.G317E	CHIA_ENST00000483391.1_Missense_Mutation_p.G156E|CHIA_ENST00000430615.1_Missense_Mutation_p.G209E|CHIA_ENST00000353665.6_Missense_Mutation_p.G156E|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_Missense_Mutation_p.G156E|CHIA_ENST00000343320.6_Missense_Mutation_p.G317E	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	317					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GCCACTCAGGGATGGGATGCC	0.408													A|||	31	0.0061901	0.0234	0.0	5008	,	,		19847	0.0		0.0	False		,,,				2504	0.0					uc001eas.2		NA																	0				ovary(1)	1						c.(949-951)GGA>GAA		acidic chitinase isoform c		A	GLU/GLY,GLU/GLY	93,4313	817.7+/-416.3	1,91,2111	94.0	93.0	93.0		626,950	-9.8	0.0	1	dbSNP_134	93	3,8597	819.1+/-406.8	0,3,4297	yes	missense,missense	CHIA	NM_021797.2,NM_201653.2	98,98	1,94,6408	AA,AG,GG		0.0349,2.1108,0.7381	benign,benign	209/369,317/477	111861776	96,12910	2203	4300	6503	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111861776G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.950G>A	1.37:g.111861776G>A	ENSP00000358755:p.Gly317Glu					CHIA_uc001ear.2_Missense_Mutation_p.G209E|CHIA_uc001eaq.2_Missense_Mutation_p.G209E|CHIA_uc009wgc.2_Missense_Mutation_p.G209E|CHIA_uc001eat.2_Missense_Mutation_p.G156E|CHIA_uc001eav.2_Missense_Mutation_p.G156E|CHIA_uc001eau.2_Missense_Mutation_p.G156E|CHIA_uc009wgd.2_Missense_Mutation_p.G156E	p.G317E	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	10	1053	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	317					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.950G>A	CCDS41368.1	24	0.01098901098901099	22	0.044715447154471545	2	0.0055248618784530384	0	0.0	0	0.0	A	0.014	-1.592924	0.00864	0.021108	3.49E-4	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.88	-9.76	0.00503	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.428150	0.05514	N	0.560886	T	0.02304	0.0071	N	0.02985	-0.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08229	-1.0732	10	0.02654	T	1	3.6133	1.2513	0.01983	0.3732:0.0984:0.1626:0.3657	.	317	Q9BZP6	CHIA_HUMAN	E	261;156;317;317;156;156;156;209	ENSP00000387671:G261E;ENSP00000436946:G156E;ENSP00000358755:G317E;ENSP00000341828:G317E;ENSP00000390476:G156E;ENSP00000338970:G156E;ENSP00000433309:G156E;ENSP00000391132:G209E	ENSP00000341828:G317E	G	+	2	0	CHIA	111663299	0.000000	0.05858	0.001000	0.08648	0.485000	0.33311	-3.107000	0.00601	-2.312000	0.00648	-2.834000	0.00106	GGA		0.408	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			10	42	0	0	0	0	10	42				
MOV10	4343	broad.mit.edu	37	1	113239079	113239079	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:113239079C>T	ENST00000413052.2	+	13	2294	c.1904C>T	c.(1903-1905)cCc>cTc	p.P635L	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Missense_Mutation_p.P635L|MOV10_ENST00000369644.1_Missense_Mutation_p.P579L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.P635L	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	635					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCCCAGTTTCCCATTGATCAC	0.572																																						uc001eck.2		NA																	0				ovary(4)|skin(1)	5						c.(1903-1905)CCC>CTC		Mov10, Moloney leukemia virus 10, homolog							123.0	114.0	117.0					1																	113239079		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113239079C>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1904C>T	1.37:g.113239079C>T	ENSP00000399797:p.Pro635Leu					MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.P635L|MOV10_uc001ecm.2_Missense_Mutation_p.P575L|MOV10_uc009wgj.1_3'UTR	p.P635L	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	13	2174	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	635					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1904C>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768199	0.90020	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.18	5.18	0.71444	.	0.050051	0.85682	D	0.000000	D	0.83741	0.5320	M	0.77103	2.36	0.80722	D	1	P	0.47677	0.899	P	0.55222	0.771	D	0.85280	0.1061	10	0.66056	D	0.02	-22.3758	18.4724	0.90779	0.0:1.0:0.0:0.0	.	635	Q9HCE1	MOV10_HUMAN	L	635;635;579;635;573	ENSP00000399797:P635L;ENSP00000358659:P635L;ENSP00000358658:P579L;ENSP00000350028:P635L	ENSP00000350028:P635L	P	+	2	0	MOV10	113040602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.466000	0.66731	2.680000	0.91292	0.655000	0.94253	CCC		0.572	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		22	79	0	0	0	0	22	79				
CSDE1	7812	broad.mit.edu	37	1	115280598	115280598	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:115280598G>C	ENST00000358528.4	-	4	721	c.295C>G	c.(295-297)Cga>Gga	p.R99G	CSDE1_ENST00000339438.6_Missense_Mutation_p.R99G|CSDE1_ENST00000438362.2_Missense_Mutation_p.R145G|CSDE1_ENST00000369530.1_Missense_Mutation_p.R145G|CSDE1_ENST00000261443.5_Missense_Mutation_p.R99G|CSDE1_ENST00000534699.1_Missense_Mutation_p.R99G|CSDE1_ENST00000530886.1_5'UTR	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	99					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATTCATTCGTTCTTCAGGG	0.398																																						uc001efk.2		NA																	0				ovary(1)	1						c.(295-297)CGA>GGA		upstream of NRAS isoform 1							227.0	216.0	220.0					1																	115280598		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115280598G>C		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.295C>G	1.37:g.115280598G>C	ENSP00000351329:p.Arg99Gly					CSDE1_uc001efi.2_Missense_Mutation_p.R145G|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.R99G|CSDE1_uc001efm.2_Missense_Mutation_p.R145G|CSDE1_uc009wgv.2_Missense_Mutation_p.R99G|CSDE1_uc001efn.2_Missense_Mutation_p.R99G	p.R99G	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	761	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	99					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.295C>G	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455262	0.63401	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000369530;ENST00000534699	.	.	.	6.16	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.60881	0.2303	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.993;0.991	P;D;P	0.71184	0.866;0.972;0.773	T	0.61720	-0.7005	9	0.40728	T	0.16	-21.2326	9.3612	0.38197	0.063:0.0:0.5709:0.3661	.	145;99;145	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	G	99;145;99;99;145;99	.	ENSP00000261443:R99G	R	-	1	2	CSDE1	115082121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.581000	0.53914	0.909000	0.36697	0.650000	0.86243	CGA		0.398	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		11	54	0	0	0	0	11	54				
SYCP1	6847	broad.mit.edu	37	1	115456614	115456614	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:115456614G>A	ENST00000369522.3	+	20	1906	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E556K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	556					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGCAAGAAGAAAGGATGTT	0.244																																						uc001efr.2		NA																	0				skin(1)	1						c.(1666-1668)GAA>AAA		synaptonemal complex protein 1							34.0	35.0	35.0					1																	115456614		2198	4275	6473	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115456614G>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1666G>A	1.37:g.115456614G>A	ENSP00000358535:p.Glu556Lys					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.E556K|SYCP1_uc009wgw.2_Missense_Mutation_p.E556K	p.E556K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	20	1875	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	556			Potential.		O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.1666G>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103037	0.76983	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.56103	0.48;0.48;0.48	5.38	5.38	0.77491	.	0.242889	0.42172	D	0.000757	T	0.62563	0.2438	M	0.72894	2.215	0.54753	D	0.999987	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.58031	-0.7708	10	0.26408	T	0.33	-8.5918	14.9753	0.71267	0.0:0.0:1.0:0.0	.	556;556	B7ZLS9;Q15431	.;SYCP1_HUMAN	K	556	ENSP00000358535:E556K;ENSP00000410011:E556K;ENSP00000358531:E556K	ENSP00000358531:E556K	E	+	1	0	SYCP1	115258137	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	3.171000	0.50824	2.657000	0.90304	0.591000	0.81541	GAA		0.244	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		9	28	0	0	0	0	9	28				
IGSF3	3321	broad.mit.edu	37	1	117122029	117122029	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:117122029G>C	ENST00000369486.3	-	10	4084	c.3319C>G	c.(3319-3321)Cgt>Ggt	p.R1107G	IGSF3_ENST00000318837.6_Missense_Mutation_p.R1127G|IGSF3_ENST00000369483.1_Missense_Mutation_p.R1127G	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1107					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCTAGAACACGGATGCCGATG	0.507																																						uc001egr.1		NA																	0				ovary(2)	2						c.(3319-3321)CGT>GGT		immunoglobulin superfamily, member 3 isoform 2							77.0	75.0	76.0					1																	117122029		2199	4293	6492	SO:0001583	missense	3321					integral to membrane		g.chr1:117122029G>C	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3319C>G	1.37:g.117122029G>C	ENSP00000358498:p.Arg1107Gly					IGSF3_uc001egq.1_Missense_Mutation_p.R1127G	p.R1107G	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	10	4024	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	1107			Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.3319C>G	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570756	0.13560	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03358	4.0;3.96;3.96	4.61	4.61	0.57282	Immunoglobulin subtype (1);	0.424896	0.24024	N	0.042241	T	0.01387	0.0045	N	0.22421	0.69	0.27392	N	0.955114	P;P	0.44090	0.826;0.708	B;B	0.37346	0.247;0.235	T	0.46665	-0.9175	10	0.54805	T	0.06	-3.645	14.9725	0.71246	0.0:0.0:1.0:0.0	.	1107;1127	O75054;A6NJZ6	IGSF3_HUMAN;.	G	1107;1127;1127	ENSP00000358498:R1107G;ENSP00000358495:R1127G;ENSP00000321184:R1127G	ENSP00000321184:R1127G	R	-	1	0	IGSF3	116923552	1.000000	0.71417	0.951000	0.38953	0.046000	0.14306	4.382000	0.59594	2.386000	0.81285	0.462000	0.41574	CGT		0.507	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		14	61	0	0	0	0	14	61				
VTCN1	79679	broad.mit.edu	37	1	117699529	117699529	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:117699529T>A	ENST00000369458.3	-	3	190	c.112A>T	c.(112-114)Aca>Tca	p.T38S	VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Missense_Mutation_p.T41S|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GTAGTGACTGTGATGGAGTGT	0.473																																						uc001ehb.2		NA																	0					0						c.(112-114)ACA>TCA		V-set domain containing T cell activation							62.0	60.0	61.0					1																	117699529		2203	4300	6503	SO:0001583	missense	79679					integral to membrane|plasma membrane		g.chr1:117699529T>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.112A>T	1.37:g.117699529T>A	ENSP00000358470:p.Thr38Ser					VTCN1_uc001ehc.2_5'UTR|VTCN1_uc009whf.1_Intron	p.T38S	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	3	184	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	38			Ig-like V-type 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000369458.3	37	c.112A>T	CCDS894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.52|10.52	1.371937|1.371937	0.24857|0.24857	.|.	.|.	ENSG00000134258|ENSG00000134258	ENST00000369456|ENST00000369458;ENST00000359008	.|T;T	.|0.05925	.|3.42;3.37	5.88|5.88	-0.884|-0.884	0.10597|0.10597	.|.	.|0.310015	.|0.27891	.|N	.|0.017438	T|T	0.00845|0.00845	0.0028|0.0028	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.12837	.|0.008	T|T	0.44605|0.44605	-0.9317|-0.9317	6|10	0.87932|0.18276	D|T	0|0.48	-8.5442|-8.5442	3.387|3.387	0.07276|0.07276	0.2622:0.2238:0.0:0.514|0.2622:0.2238:0.0:0.514	.|.	.|38	.|Q7Z7D3	.|VTCN1_HUMAN	L|S	65|38;41	.|ENSP00000358470:T38S;ENSP00000351899:T41S	ENSP00000358468:H65L|ENSP00000351899:T41S	H|T	-|-	2|1	0|0	VTCN1|VTCN1	117501052|117501052	0.973000|0.973000	0.33851|0.33851	0.981000|0.981000	0.43875|0.43875	0.584000|0.584000	0.36387|0.36387	0.211000|0.211000	0.17474|0.17474	-0.093000|-0.093000	0.12396|0.12396	0.519000|0.519000	0.50382|0.50382	CAC|ACA		0.473	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		15	38	0	0	0	0	15	38				
TBX15	6913	broad.mit.edu	37	1	119427862	119427863	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119427862_119427863GG>AA	ENST00000369429.3	-	8	1310_1311	c.1301_1302CC>TT	c.(1300-1302)cCC>cTT	p.P434L	TBX15_ENST00000207157.3_Missense_Mutation_p.P328L			Q96SF7	TBX15_HUMAN	T-box 15	434					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGGTTTCAGAGGGCTGAGTGGC	0.574																																						uc001ehl.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(982-984)CCC>CTT		T-box 15																																				SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427862_119427863GG>AA	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1301_1302delinsAA	1.37:g.119427862_119427863delinsAA	ENSP00000358437:p.Pro434Leu					TBX15_uc009whj.1_Missense_Mutation_p.P152L	p.P328L	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1298_1299	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	434					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	DNP	ENST00000369429.3	37	c.983_984CC>TT																																																																																					0.574	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		11	32	0	0	0	0	11	32				
TBX15	6913	broad.mit.edu	37	1	119466122	119466122	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119466122C>T	ENST00000369429.3	-	5	807	c.798G>A	c.(796-798)ggG>ggA	p.G266G	TBX15_ENST00000207157.3_Silent_p.G160G			Q96SF7	TBX15_HUMAN	T-box 15	266					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ACGTTTTCACCCCATCCCCAA	0.488																																						uc001ehl.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(478-480)GGG>GGA		T-box 15							149.0	136.0	141.0					1																	119466122		2203	4300	6503	SO:0001819	synonymous_variant	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119466122C>T	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.798G>A	1.37:g.119466122C>T							p.G160G	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	5	795	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	266			T-box.		Q08E76|Q5JT54|Q5T9S7	Silent	SNP	ENST00000369429.3	37	c.480G>A																																																																																					0.488	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		14	38	0	0	0	0	14	38				
WARS2	10352	broad.mit.edu	37	1	119575733	119575733	+	Missense_Mutation	SNP	G	G	A	rs140469836		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119575733G>A	ENST00000235521.4	-	6	910	c.884C>T	c.(883-885)gCg>gTg	p.A295V	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A201V	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	295					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GTTCATGCCCGCGCTGCGGCG	0.597																																						uc001ehn.2		NA																	0					0						c.(883-885)GCG>GTG		mitochondrial tryptophanyl tRNA synthetase 2	L-Tryptophan(DB00150)	G	VAL/ALA,	2,4404	4.2+/-10.8	0,2,2201	77.0	79.0	78.0		884,	0.7	0.0	1	dbSNP_134	78	0,8600		0,0,4300	no	missense,utr-3	WARS2	NM_015836.3,NM_201263.2	64,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,	295/361,	119575733	2,13004	2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119575733G>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.884C>T	1.37:g.119575733G>A	ENSP00000235521:p.Ala295Val					WARS2_uc010oxf.1_Missense_Mutation_p.A201V|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.A238V|WARS2_uc010oxh.1_3'UTR	p.A295V	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	912	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	295					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.884C>T	CCDS900.1	.	.	.	.	.	.	.	.	.	.	G	4.739	0.137364	0.09032	4.54E-4	0.0	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.32272	1.46;1.46	5.87	0.705	0.18127	.	0.837814	0.11452	N	0.562702	T	0.05777	0.0151	N	0.20986	0.625	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.16289	0.009;0.015	T	0.37842	-0.9688	10	0.36615	T	0.2	-0.0391	2.8898	0.05673	0.3602:0.1056:0.4264:0.1078	.	238;295	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	V	295;201	ENSP00000235521:A295V;ENSP00000438807:A201V	ENSP00000235521:A295V	A	-	2	0	WARS2	119377256	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.040000	0.12104	0.103000	0.17682	-0.136000	0.14681	GCG		0.597	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		16	48	0	0	0	0	16	48				
PPIAL4G	644591	broad.mit.edu	37	1	143767641	143767641	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:143767641G>A	ENST00000419275.1	-	1	240	c.208C>T	c.(208-210)Cct>Tct	p.P70S		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	70	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GTGCCATTAGGGTGTGTGAAG	0.468																																						uc001ejt.2		NA																	0					0						c.(208-210)CCT>TCT		peptidylprolyl isomerase A (cyclophilin A)-like							73.0	69.0	70.0					1																	143767641		1568	3566	5134	SO:0001583	missense	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767641G>A		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.208C>T	1.37:g.143767641G>A	ENSP00000393845:p.Pro70Ser						p.P70S	NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN			1	241	-			70			PPIase cyclophilin-type.		A1L431	Missense_Mutation	SNP	ENST00000419275.1	37	c.208C>T	CCDS41375.1	.	.	.	.	.	.	.	.	.	.	.	10.96	1.499808	0.26861	.	.	ENSG00000236334	ENST00000419275	T	0.40225	1.04	0.523	0.523	0.17060	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.059821	0.64402	U	0.000003	T	0.06508	0.0167	N	0.02721	-0.515	0.28689	N	0.904687	B	0.02656	0.0	B	0.04013	0.001	T	0.29274	-1.0017	10	0.72032	D	0.01	.	6.9309	0.24442	1.0E-4:0.0:0.9999:0.0	.	70	A2BFH1	PAL4G_HUMAN	S	70	ENSP00000393845:P70S	ENSP00000393845:P70S	P	-	1	0	PPIAL4G	142559164	1.000000	0.71417	0.103000	0.21229	0.112000	0.19704	3.754000	0.55189	0.587000	0.29643	0.403000	0.27427	CCT		0.468	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		38	253	0	0	0	0	38	253				
PDE4DIP	9659	broad.mit.edu	37	1	145075855	145075855	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:145075855C>T	ENST00000530740.1	-	1	46	c.8G>A	c.(7-9)gGc>gAc	p.G3D	PDE4DIP_ENST00000369348.3_Missense_Mutation_p.G3D|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.G3D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.G3D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGTCTGTGCCCTTCATGGA	0.672			T	PDGFRB	MPD																																	uc001emh.2		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(7-9)GGC>GAC		phosphodiesterase 4D interacting protein isoform							35.0	42.0	39.0					1																	145075855		2201	4299	6500	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075855C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.8G>A	1.37:g.145075855C>T	ENSP00000435654:p.Gly3Asp					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.G3D|PDE4DIP_uc001emk.2_Missense_Mutation_p.G3D	p.G3D	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	225	-			Error:Variant_position_missing_in_Q5VU43_after_alignment					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37	c.8G>A		.	.	.	.	.	.	.	.	.	.	C	15.01	2.705256	0.48412	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.08282	4.89;4.88;3.11	3.25	3.25	0.37280	.	.	.	.	.	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	0.999994	P;B	0.36535	0.557;0.089	B;B	0.32864	0.154;0.032	T	0.44877	-0.9299	9	0.20519	T	0.43	.	10.1438	0.42751	0.0:1.0:0.0:0.0	.	3;3	Q5TB27;E9PJ64	.;.	D	3	ENSP00000435654:G3D;ENSP00000358366:G3D;ENSP00000358354:G3D	ENSP00000358351:G3D	G	-	2	0	PDE4DIP	143787212	0.229000	0.23729	0.043000	0.18650	0.219000	0.24729	0.481000	0.22260	1.798000	0.52647	0.511000	0.50034	GGC		0.672	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		5	58	0	0	0	0	5	58				
ACP6	51205	broad.mit.edu	37	1	147131114	147131114	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:147131114G>A	ENST00000369238.6	-	4	967	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	ACP6_ENST00000392988.2_Missense_Mutation_p.R174C	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	174					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGCAAACAACGGGTGGACTCC	0.423																																						uc001epr.2		NA																	0				ovary(4)	4						c.(520-522)CGT>TGT		acid phosphatase 6, lysophosphatidic precursor							125.0	127.0	126.0					1																	147131114		2203	4300	6503	SO:0001583	missense	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147131114G>A	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.520C>T	1.37:g.147131114G>A	ENSP00000358241:p.Arg174Cys					ACP6_uc009wjj.1_Missense_Mutation_p.R131C	p.R174C	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			4	984	-	all_hematologic(923;0.0276)		174					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	c.520C>T	CCDS928.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091505	0.76756	.	.	ENSG00000162836	ENST00000369238;ENST00000392988	T;T	0.31247	1.5;1.5	5.42	5.42	0.78866	.	0.098725	0.64402	D	0.000002	T	0.52025	0.1709	M	0.82517	2.595	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.58572	-0.7613	10	0.87932	D	0	.	14.8974	0.70654	0.0:0.0:0.8561:0.1439	.	174;174	Q9NPH0-2;Q9NPH0	.;PPA6_HUMAN	C	174	ENSP00000358241:R174C;ENSP00000376714:R174C	ENSP00000358241:R174C	R	-	1	0	ACP6	145597738	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.872000	0.63050	2.529000	0.85273	0.655000	0.94253	CGT		0.423	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		24	112	0	0	0	0	24	112				
PRPF3	9129	broad.mit.edu	37	1	150300844	150300844	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:150300844C>T	ENST00000324862.6	+	4	507	c.342C>T	c.(340-342)ccC>ccT	p.P114P	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Intron	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	114					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GACGAATACCCCGTTTTGAGG	0.498																																					Ovarian(168;1070 2670 5178 20729)	uc001eum.3		NA																	0				ovary(1)	1						c.(340-342)CCC>CCT		PRP3 pre-mRNA processing factor 3 homolog							130.0	135.0	133.0					1																	150300844		2203	4300	6503	SO:0001819	synonymous_variant	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150300844C>T	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.342C>T	1.37:g.150300844C>T						PRPF3_uc009wlo.2_Silent_p.P114P|PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.P73P|PRPF3_uc010pcb.1_Intron	p.P114P	NM_004698	NP_004689	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	4	504	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		114					B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	c.342C>T	CCDS951.1																																																																																				0.498	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		25	134	0	0	0	0	25	134				
ADAMTSL4	54507	broad.mit.edu	37	1	150527914	150527914	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:150527914C>T	ENST00000369038.2	+	6	1445	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S438F|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.S415F|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.S415F			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	415					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTCCAGGGCTCCCAGCGCTGT	0.627																																						uc001eux.2		NA																	0				ovary(1)|skin(1)	2						c.(1243-1245)TCC>TTC		thrombospondin repeat containing 1 isoform 1							67.0	58.0	61.0					1																	150527914		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150527914C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1244C>T	1.37:g.150527914C>T	ENSP00000358034:p.Ser415Phe					ADAMTSL4_uc001euw.2_Missense_Mutation_p.S415F|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.S438F|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.S438F|ADAMTSL4_uc009wlx.2_5'Flank	p.S415F	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		8	1480	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		415					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.1244C>T	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560115	0.65538	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.67345	-0.23;-0.23;-0.26;-0.23	4.69	3.78	0.43462	.	.	.	.	.	T	0.65974	0.2743	M	0.64404	1.975	0.34763	D	0.732971	D;D;D;D	0.76494	0.998;0.998;0.996;0.999	D;D;P;D	0.67548	0.923;0.929;0.862;0.952	T	0.70121	-0.4959	9	0.72032	D	0.01	.	5.7799	0.18299	0.1913:0.7109:0.0:0.0979	.	438;438;415;415	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	F	415;415;438;415	ENSP00000358037:S415F;ENSP00000271643:S415F;ENSP00000358035:S438F;ENSP00000358034:S415F	ENSP00000271643:S415F	S	+	2	0	ADAMTSL4	148794538	0.950000	0.32346	1.000000	0.80357	0.994000	0.84299	0.213000	0.17521	1.197000	0.43143	0.561000	0.74099	TCC		0.627	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		9	7	0	0	0	0	9	7				
TNFAIP8L2	79626	broad.mit.edu	37	1	151131544	151131545	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151131544_151131545GG>AA	ENST00000368910.3	+	2	497_498	c.371_372GG>AA	c.(370-372)cGG>cAA	p.R124Q		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	124					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)				lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCGAGTGCCGGGATGTGCTGC	0.604																																						uc001ewx.2		NA																	0					0						c.(370-372)CGG>CAA		tumor necrosis factor, alpha-induced protein																																				SO:0001583	missense	79626				innate immune response			g.chr1:151131544_151131545GG>AA	BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	Exception_encountered	1.37:g.151131544_151131545delinsAA	ENSP00000357906:p.Arg124Gln						p.R124Q	NM_024575	NP_078851	Q6P589	TP8L2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	497_498	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		124					Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	DNP	ENST00000368910.3	37	c.371_372GG>AA	CCDS985.1																																																																																				0.604	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2	NM_024575		11	38	0	0	0	0	11	38				
RFX5	5993	broad.mit.edu	37	1	151316355	151316355	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151316355C>T	ENST00000290524.4	-	9	737	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452513.2_Missense_Mutation_p.E147K|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Missense_Mutation_p.E187K|RFX5_ENST00000368870.2_Missense_Mutation_p.E187K	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	187					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCCCATTTCTGGCTGAAGT	0.532																																						uc001exv.1		NA																	0				ovary(1)	1						c.(559-561)GAA>AAA		regulatory factor X, 5							57.0	54.0	55.0					1																	151316355		2203	4300	6503	SO:0001583	missense	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151316355C>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.559G>A	1.37:g.151316355C>T	ENSP00000290524:p.Glu187Lys					RFX5_uc001exw.1_Missense_Mutation_p.E187K|RFX5_uc009wmr.1_Missense_Mutation_p.E187K|RFX5_uc010pcx.1_Missense_Mutation_p.E147K	p.E187K	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	773	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		187					B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	c.559G>A	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784706	0.90282	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595	T;T;T;T;T;T;T	0.73363	0.21;0.21;-0.74;0.21;0.21;0.21;-0.69	5.81	4.89	0.63831	.	0.258141	0.36972	N	0.002303	T	0.80949	0.4722	M	0.67953	2.075	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;P	0.80764	0.994;0.906	D	0.83870	0.0273	10	0.66056	D	0.02	-21.5308	15.0322	0.71717	0.1434:0.8566:0.0:0.0	.	147;187	B7Z848;P48382	.;RFX5_HUMAN	K	187;187;79;187;147;187;187	ENSP00000290524:E187K;ENSP00000357864:E187K;ENSP00000390769:E79K;ENSP00000389130:E187K;ENSP00000398388:E147K;ENSP00000376502:E187K;ENSP00000399095:E187K	ENSP00000290524:E187K	E	-	1	0	RFX5	149582979	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.499000	0.73683	1.446000	0.47643	0.655000	0.94253	GAA		0.532	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		10	41	0	0	0	0	10	41				
RORC	6097	broad.mit.edu	37	1	151785525	151785525	+	Missense_Mutation	SNP	C	C	T	rs368067137		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151785525C>T	ENST00000318247.6	-	9	1290	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.E449K|RORC_ENST00000356728.6_Missense_Mutation_p.E374K	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	395	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGATGAGCTCGCTGCAGCCT	0.532																																						uc001ezh.2		NA																	0				ovary(1)|skin(1)	2						c.(1183-1185)GAG>AAG		RAR-related orphan receptor C isoform a		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	87.0	71.0	76.0		1120,1183	5.0	1.0	1		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RORC	NM_001001523.1,NM_005060.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	374/498,395/519	151785525	1,13005	2203	4300	6503	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151785525C>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1183G>A	1.37:g.151785525C>T	ENSP00000327025:p.Glu395Lys					RORC_uc001ezg.2_Missense_Mutation_p.E374K|RORC_uc010pdo.1_Missense_Mutation_p.E449K|RORC_uc010pdp.1_Missense_Mutation_p.E383K	p.E395K	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		9	1291	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		395			Ligand-binding.		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.1183G>A	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435708	0.96168	0.0	1.16E-4	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.97791	-4.54;-4.54;-4.54	5.01	5.01	0.66863	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.078589	0.49916	U	0.000127	D	0.96901	0.8988	L	0.41079	1.255	0.58432	D	0.999995	B;D;P;D	0.61697	0.409;0.989;0.628;0.99	B;P;B;P	0.56088	0.175;0.622;0.13;0.791	D	0.97713	1.0192	10	0.87932	D	0	.	17.247	0.87031	0.0:1.0:0.0:0.0	.	383;449;395;374	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	K	374;449;395	ENSP00000349164:E374K;ENSP00000376461:E449K;ENSP00000327025:E395K	ENSP00000327025:E395K	E	-	1	0	RORC	150052149	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	6.029000	0.70895	2.483000	0.83821	0.655000	0.94253	GAG		0.532	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			4	25	0	0	0	0	4	25				
TCHHL1	126637	broad.mit.edu	37	1	152058789	152058789	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152058789G>A	ENST00000368806.1	-	3	1433	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	457							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCAAGTTCAGGGTGAGTCTGA	0.448																																						uc001ezo.1		NA																	0				ovary(1)|skin(1)	2						c.(1369-1371)CCT>TCT		trichohyalin-like 1							241.0	225.0	231.0					1																	152058789		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058789G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1369C>T	1.37:g.152058789G>A	ENSP00000357796:p.Pro457Ser						p.P457S	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1434	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		457					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1369C>T	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	8.304	0.820688	0.16678	.	.	ENSG00000182898	ENST00000368806	T	0.25749	1.78	5.59	-2.15	0.07102	.	1.024290	0.07818	N	0.959305	T	0.02929	0.0087	N	0.25647	0.755	0.09310	N	1	B	0.26363	0.147	B	0.18263	0.021	T	0.35649	-0.9780	10	0.02654	T	1	0.9261	3.8174	0.08821	0.378:0.0:0.3689:0.2531	.	457	Q5QJ38	TCHL1_HUMAN	S	457	ENSP00000357796:P457S	ENSP00000357796:P457S	P	-	1	0	TCHHL1	150325413	0.082000	0.21442	0.016000	0.15963	0.406000	0.30931	0.012000	0.13287	-0.167000	0.10871	0.650000	0.86243	CCT		0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		93	156	0	0	0	0	93	156				
TCHHL1	126637	broad.mit.edu	37	1	152059445	152059445	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152059445G>A	ENST00000368806.1	-	3	777	c.713C>T	c.(712-714)cCa>cTa	p.P238L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	238							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCTCTGGCTGGTTCATCTCC	0.453																																						uc001ezo.1		NA																	0				ovary(1)|skin(1)	2						c.(712-714)CCA>CTA		trichohyalin-like 1							149.0	136.0	140.0					1																	152059445		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152059445G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.713C>T	1.37:g.152059445G>A	ENSP00000357796:p.Pro238Leu						p.P238L	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	778	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		238					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.713C>T	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	6.860	0.527910	0.13127	.	.	ENSG00000182898	ENST00000368806	T	0.27402	1.67	5.2	-0.693	0.11298	.	0.907956	0.09087	N	0.850469	T	0.06508	0.0167	L	0.29908	0.895	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.39396	-0.9616	10	0.30078	T	0.28	1.0552	4.6332	0.12511	0.3777:0.0:0.473:0.1493	.	238	Q5QJ38	TCHL1_HUMAN	L	238	ENSP00000357796:P238L	ENSP00000357796:P238L	P	-	2	0	TCHHL1	150326069	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.055000	0.14229	-0.031000	0.13781	-1.136000	0.01936	CCA		0.453	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		30	123	0	0	0	0	30	123				
HRNR	388697	broad.mit.edu	37	1	152187529	152187529	+	Silent	SNP	C	C	T	rs567290240		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152187529C>T	ENST00000368801.2	-	3	6651	c.6576G>A	c.(6574-6576)tcG>tcA	p.S2192S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2192					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGAGTGCCCCGAACCGGACC	0.637													t|||	1	0.000199681	0.0	0.0	5008	,	,		31920	0.001		0.0	False		,,,				2504	0.0					uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6574-6576)TCG>TCA		hornerin							54.0	71.0	65.0					1																	152187529		2173	4287	6460	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187529C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6576G>A	1.37:g.152187529C>T							p.S2192S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6652	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2192			24		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6576G>A	CCDS30859.1																																																																																				0.637	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		26	421	0	0	0	0	26	421				
HRNR	388697	broad.mit.edu	37	1	152187634	152187634	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152187634G>A	ENST00000368801.2	-	3	6546	c.6471C>T	c.(6469-6471)tcC>tcT	p.S2157S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2157					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCATAGCGGGAAGACGAAC	0.617																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6469-6471)TCC>TCT		hornerin							344.0	387.0	373.0					1																	152187634		2199	4280	6479	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187634G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6471C>T	1.37:g.152187634G>A							p.S2157S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6547	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2157			24		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6471C>T	CCDS30859.1																																																																																				0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		20	880	0	0	0	0	20	880				
HRNR	388697	broad.mit.edu	37	1	152188145	152188145	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152188145G>A	ENST00000368801.2	-	3	6035	c.5960C>T	c.(5959-5961)tCt>tTt	p.S1987F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1987					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAAGCCAGAAGAGTGACCGGA	0.577																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(5959-5961)TCT>TTT		hornerin							59.0	97.0	85.0					1																	152188145		1641	3490	5131	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188145G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5960C>T	1.37:g.152188145G>A	ENSP00000357791:p.Ser1987Phe						p.S1987F	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6036	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1987			22		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5960C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059273	0.19987	.	.	ENSG00000197915	ENST00000368801	T	0.03413	3.94	3.2	3.2	0.36748	.	.	.	.	.	T	0.04679	0.0127	L	0.45137	1.4	0.09310	N	1	D	0.89917	1.0	D	0.68192	0.956	T	0.44757	-0.9307	9	0.26408	T	0.33	.	12.2856	0.54791	0.0:0.0:1.0:0.0	.	1987	Q86YZ3	HORN_HUMAN	F	1987	ENSP00000357791:S1987F	ENSP00000357791:S1987F	S	-	2	0	HRNR	150454769	0.455000	0.25736	0.007000	0.13788	0.019000	0.09904	2.243000	0.43115	1.790000	0.52503	0.505000	0.49811	TCT		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		17	484	0	0	0	0	17	484				
HRNR	388697	broad.mit.edu	37	1	152188177	152188177	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152188177G>A	ENST00000368801.2	-	3	6003	c.5928C>T	c.(5926-5928)agC>agT	p.S1976S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1976					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGCCACGGCTGGAAGACC	0.602																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(5926-5928)AGC>AGT		hornerin							205.0	352.0	303.0					1																	152188177		2182	4291	6473	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188177G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5928C>T	1.37:g.152188177G>A							p.S1976S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6004	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1976			22		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.5928C>T	CCDS30859.1																																																																																				0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		14	674	0	0	0	0	14	674				
HRNR	388697	broad.mit.edu	37	1	152191169	152191169	+	Missense_Mutation	SNP	G	G	A	rs144088764		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152191169G>A	ENST00000368801.2	-	3	3011	c.2936C>T	c.(2935-2937)tCg>tTg	p.S979L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	979					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGAAGACGAACCTGAGCT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		22582	0.0		0.001	False		,,,				2504	0.0					uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(2935-2937)TCG>TTG		hornerin		G	LEU/SER	0,4406		0,0,2203	279.0	264.0	269.0		2936	-0.6	0.0	1	dbSNP_134	269	1,8599	1.2+/-3.3	0,1,4299	no	missense	HRNR	NM_001009931.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	979/2851	152191169	1,13005	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191169G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2936C>T	1.37:g.152191169G>A	ENSP00000357791:p.Ser979Leu						p.S979L	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3012	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		979			11		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2936C>T	CCDS30859.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.423	0.637192	0.14386	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.01705	4.68	3.79	-0.547	0.11836	.	.	.	.	.	T	0.00412	0.0013	N	0.22421	0.69	0.09310	N	1	B	0.23058	0.079	B	0.10450	0.005	T	0.41466	-0.9507	9	0.29301	T	0.29	.	4.9116	0.13825	0.1771:0.0:0.3814:0.4415	.	979	Q86YZ3	HORN_HUMAN	L	979	ENSP00000357791:S979L	ENSP00000357791:S979L	S	-	2	0	HRNR	150457793	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.452000	0.06787	-0.169000	0.10834	-0.425000	0.05940	TCG		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		62	252	0	0	0	0	62	252				
FLG	2312	broad.mit.edu	37	1	152278924	152278924	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152278924C>T	ENST00000368799.1	-	3	8473	c.8438G>A	c.(8437-8439)gGg>gAg	p.G2813E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2813	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGATGGGACCCTGAGTGTCC	0.572									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8437-8439)GGG>GAG		filaggrin							124.0	185.0	164.0					1																	152278924		2198	4279	6477	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278924C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8438G>A	1.37:g.152278924C>T	ENSP00000357789:p.Gly2813Glu						p.G2813E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8474	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2813			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8438G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159489	0.21454	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.07567	3.18	3.77	1.8	0.24995	.	.	.	.	.	T	0.04634	0.0126	M	0.69823	2.125	0.09310	N	1	P	0.50443	0.935	P	0.44673	0.457	T	0.28650	-1.0037	9	0.49607	T	0.09	-4.8867	5.5847	0.17267	0.0:0.6785:0.2035:0.118	.	2813	P20930	FILA_HUMAN	E	2813;75	ENSP00000357789:G2813E	ENSP00000357786:G75E	G	-	2	0	FLG	150545548	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-0.125000	0.10579	0.327000	0.23409	0.306000	0.20318	GGG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		51	439	0	0	0	0	51	439				
FLG2	388698	broad.mit.edu	37	1	152326846	152326846	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152326846G>A	ENST00000388718.5	-	3	3488	c.3416C>T	c.(3415-3417)tCt>tTt	p.S1139F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1139	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)			TGCAAAGCCAGAGGATTTACC	0.537																																						uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(3415-3417)TCT>TTT		filaggrin family member 2							208.0	197.0	200.0					1																	152326846		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326846G>A	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.3416C>T	1.37:g.152326846G>A	ENSP00000373370:p.Ser1139Phe					uc001ezv.2_Intron	p.S1139F	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3489	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1139			Ser-rich.|Filaggrin 4.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3416C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142742	0.37825	.	.	ENSG00000143520	ENST00000388718	T	0.11604	2.76	3.44	2.48	0.30137	.	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.59115	0.852	T	0.36187	-0.9758	9	0.42905	T	0.14	.	8.3505	0.32299	0.0:0.2432:0.7568:0.0	.	1139	Q5D862	FILA2_HUMAN	F	1139	ENSP00000373370:S1139F	ENSP00000373370:S1139F	S	-	2	0	FLG2	150593470	0.000000	0.05858	0.003000	0.11579	0.047000	0.14425	-0.067000	0.11579	0.631000	0.30412	0.306000	0.20318	TCT		0.537	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		47	221	0	0	0	0	47	221				
LELP1	149018	broad.mit.edu	37	1	153177418	153177418	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:153177418C>T	ENST00000368747.1	+	2	345	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	79	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGCCCTGTCCTCCTAAATG	0.632																																						uc001fbl.2		NA																	0				ovary(1)	1						c.(235-237)CCT>TCT		late cornified envelope-like proline-rich 1							112.0	89.0	97.0					1																	153177418		2203	4300	6503	SO:0001583	missense	149018							g.chr1:153177418C>T		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.235C>T	1.37:g.153177418C>T	ENSP00000357736:p.Pro79Ser						p.P79S	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	345	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		79			Cys/Pro-rich.		A1L4E1	Missense_Mutation	SNP	ENST00000368747.1	37	c.235C>T	CCDS30869.1	.	.	.	.	.	.	.	.	.	.	C	7.264	0.605844	0.14002	.	.	ENSG00000203784	ENST00000368747	.	.	.	4.2	0.552	0.17230	.	0.000000	0.44688	D	0.000440	T	0.04227	0.0117	.	.	.	0.09310	N	1	B	0.20550	0.046	B	0.16289	0.015	T	0.39187	-0.9626	8	0.11485	T	0.65	-0.3166	2.5521	0.04751	0.1764:0.4103:0.3071:0.1063	.	79	Q5T871	LELP1_HUMAN	S	79	.	ENSP00000357736:P79S	P	+	1	0	LELP1	151444042	0.053000	0.20554	0.001000	0.08648	0.068000	0.16541	0.703000	0.25646	-0.056000	0.13221	0.561000	0.74099	CCT		0.632	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		4	40	0	0	0	0	4	40				
S100A1	6271	broad.mit.edu	37	1	153604235	153604235	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:153604235G>A	ENST00000292169.1	+	3	316	c.203G>A	c.(202-204)gGg>gAg	p.G68E	CHTOP_ENST00000403433.1_5'Flank|S100A13_ENST00000368699.1_Intron|S100A13_ENST00000491177.1_5'Flank|RP1-178F15.4_ENST00000607839.1_RNA|RP1-178F15.4_ENST00000469931.2_RNA|RP1-178F15.5_ENST00000497086.1_RNA|CHTOP_ENST00000368694.3_5'Flank|S100A1_ENST00000368696.3_3'UTR|S100A1_ENST00000469893.1_3'UTR|S100A1_ENST00000368698.3_Missense_Mutation_p.G121E	NM_006271.1	NP_006262.1	P23297	S10A1_HUMAN	S100 calcium binding protein A1	68	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|regulation of heart contraction (GO:0008016)|substantia nigra development (GO:0021762)	M band (GO:0031430)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			breast(1)|cervix(1)|lung(2)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	AATGGAGACGGGGAGGTGGAC	0.542																																					Ovarian(74;601 1703 10548 31787)	uc001fck.1		NA																	0					0						c.(202-204)GGG>GAG		S100 calcium binding protein A1	Olopatadine(DB00768)						432.0	400.0	411.0					1																	153604235		2203	4300	6503	SO:0001583	missense	6271				intracellular signal transduction|regulation of heart contraction	nucleus|protein complex|sarcoplasmic reticulum	ATPase binding|calcium ion binding|protein homodimerization activity|S100 alpha binding|S100 beta binding	g.chr1:153604235G>A	BC014392	CCDS1047.1	1q21	2013-01-10	2001-11-28		ENSG00000160678	ENSG00000160678		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10486	protein-coding gene	gene with protein product		176940	"""S100 calcium-binding protein A1"""	S100A		1998503	Standard	NM_006271		Approved	S100-alpha	uc001fck.1	P23297	OTTHUMG00000037041	ENST00000292169.1:c.203G>A	1.37:g.153604235G>A	ENSP00000292169:p.Gly68Glu					C1orf77_uc001fcm.1_5'Flank|C1orf77_uc001fcn.1_5'Flank|S100A13_uc001fcj.2_Intron|S100A1_uc001fcl.1_RNA|C1orf77_uc009woi.1_5'Flank|C1orf77_uc009woj.1_5'Flank	p.G68E	NM_006271	NP_006262	P23297	S10A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	316	+	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		68			2; high affinity.|EF-hand 2.		B2R5D9|Q5T7Y3	Missense_Mutation	SNP	ENST00000292169.1	37	c.203G>A	CCDS1047.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820491	0.90873	.	.	ENSG00000160678	ENST00000368698;ENST00000292169	T;D	0.90197	1.85;-2.63	5.12	5.12	0.69794	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91277	0.7250	.	.	.	0.80722	D	1	D	0.67145	0.996	P	0.54174	0.744	D	0.90925	0.4786	9	0.48119	T	0.1	.	16.1017	0.81175	0.0:0.0:1.0:0.0	.	68	P23297	S10A1_HUMAN	E	121;68	ENSP00000357687:G121E;ENSP00000292169:G68E	ENSP00000292169:G68E	G	+	2	0	S100A1	151870859	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.860000	0.69546	2.659000	0.90383	0.655000	0.94253	GGG		0.542	S100A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089933.1	NM_006271		49	232	0	0	0	0	49	232				
IL6R	3570	broad.mit.edu	37	1	154401817	154401817	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:154401817G>A	ENST00000368485.3	+	2	668	c.231G>A	c.(229-231)atG>atA	p.M77I	IL6R_ENST00000344086.4_Missense_Mutation_p.M77I	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	77	Ig-like C2-type.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	GGGCTGGCATGGGAAGGAGGC	0.647																																						uc001fez.1		NA																	0				ovary(3)|breast(1)	4						c.(229-231)ATG>ATA		interleukin 6 receptor isoform 1 precursor							46.0	48.0	47.0					1																	154401817		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154401817G>A	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.231G>A	1.37:g.154401817G>A	ENSP00000357470:p.Met77Ile					IL6R_uc001ffa.1_Missense_Mutation_p.M77I	p.M77I	NM_000565	NP_000556	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	668	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		77			Extracellular (Potential).|Ig-like C2-type.		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.231G>A	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	G	5.791	0.330241	0.10956	.	.	ENSG00000160712	ENST00000368485;ENST00000344086;ENST00000512471	T;T;T	0.16743	2.5;2.32;2.57	4.77	3.84	0.44239	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.691590	0.02641	N	0.105383	T	0.05547	0.0146	L	0.34521	1.04	0.22571	N	0.998974	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.27938	-1.0059	10	0.27785	T	0.31	-1.9137	9.2193	0.37366	0.0999:0.0:0.9001:0.0	.	77;77	P08887-2;P08887	.;IL6RA_HUMAN	I	77	ENSP00000357470:M77I;ENSP00000340589:M77I;ENSP00000423184:M77I	ENSP00000340589:M77I	M	+	3	0	IL6R	152668441	0.943000	0.32029	0.460000	0.27093	0.197000	0.23852	1.628000	0.37060	1.204000	0.43247	0.561000	0.74099	ATG		0.647	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		12	31	0	0	0	0	12	31				
FLAD1	80308	broad.mit.edu	37	1	154962042	154962042	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:154962042C>T	ENST00000292180.3	+	3	1446	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F	FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368433.1_Missense_Mutation_p.S375F|FLAD1_ENST00000315144.10_Missense_Mutation_p.S278F|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000368432.1_Missense_Mutation_p.S278F	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	375					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGGGTCTTCTTTGGGGAAA	0.547																																						uc001fgf.1		NA																	0				ovary(2)|skin(1)	3						c.(1123-1125)TCT>TTT		flavin adenine dinucleotide synthetase isoform							89.0	89.0	89.0					1																	154962042		2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154962042C>T		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1124C>T	1.37:g.154962042C>T	ENSP00000292180:p.Ser375Phe					FLAD1_uc001fgd.1_Missense_Mutation_p.S375F|FLAD1_uc001fge.1_Missense_Mutation_p.S278F|FLAD1_uc001fgg.1_Missense_Mutation_p.S278F|FLAD1_uc001fgh.1_Intron	p.S375F	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1478	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		375					Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.1124C>T	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227545	0.58668	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000292180	.	.	.	5.31	3.38	0.38709	.	0.449435	0.25004	N	0.033888	T	0.21227	0.0511	N	0.22421	0.69	0.80722	D	1	P	0.43701	0.815	B	0.37198	0.243	T	0.04825	-1.0924	9	0.52906	T	0.07	-1.1227	11.6404	0.51228	0.1363:0.7246:0.1392:0.0	.	375	Q8NFF5	FAD1_HUMAN	F	375;278;278;375	.	ENSP00000292180:S375F	S	+	2	0	FLAD1	153228666	0.517000	0.26226	0.998000	0.56505	0.993000	0.82548	3.181000	0.50903	0.766000	0.33244	0.655000	0.94253	TCT		0.547	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		15	80	0	0	0	0	15	80				
CLK2	1196	broad.mit.edu	37	1	155236562	155236563	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155236562_155236563GG>AA	ENST00000368361.4	-	7	1110_1111	c.795_796CC>TT	c.(793-798)caCCaa>caTTaa	p.Q266*	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Nonsense_Mutation_p.Q265*|CLK2_ENST00000355560.4_Nonsense_Mutation_p.Q264*|CLK2_ENST00000536801.1_Nonsense_Mutation_p.Q266*			P49760	CLK2_HUMAN	CDC-like kinase 2	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGCGCACTTGGTGGATGGGGT	0.559								Other conserved DNA damage response genes																														uc001fjy.2		NA																	0					0						c.(793-798)CACCAA>CATTAA	Other_conserved_DNA_damage_response_genes	CDC-like kinase 2																																				SO:0001587	stop_gained	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155236562_155236563GG>AA	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.795_796delinsAA	1.37:g.155236562_155236563delinsAA	ENSP00000357345:p.Gln266*					RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Nonsense_Mutation_p.Q265*|CLK2_uc001fjx.2_Nonsense_Mutation_p.Q38*|CLK2_uc009wqm.2_Nonsense_Mutation_p.Q266*	p.Q266*	NM_003993	NP_003984	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		7	1085_1086	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		266			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Nonsense_Mutation	DNP	ENST00000368361.4	37	c.795_796CC>TT																																																																																					0.559	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		16	22	0	0	0	0	16	22				
HCN3	57657	broad.mit.edu	37	1	155254458	155254458	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155254458C>T	ENST00000368358.3	+	4	1007	c.999C>T	c.(997-999)atC>atT	p.I333I	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	333					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCAGCATGATCGTAGGTGCCA	0.597																																						uc001fjz.1		NA																	0				ovary(1)|breast(1)	2						c.(997-999)ATC>ATT		hyperpolarization activated cyclic							122.0	88.0	99.0					1																	155254458		2203	4300	6503	SO:0001819	synonymous_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155254458C>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.999C>T	1.37:g.155254458C>T						RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Intron	p.I333I	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	1007	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		333			Helical; Name=Segment S6; (Potential).		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	c.999C>T	CCDS1108.1																																																																																				0.597	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		8	27	0	0	0	0	8	27				
GON4L	54856	broad.mit.edu	37	1	155727075	155727076	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155727075_155727076GG>AA	ENST00000368331.1	-	26	5340_5341	c.5292_5293CC>TT	c.(5290-5295)gaCCac>gaTTac	p.H1765Y	GON4L_ENST00000271883.5_Missense_Mutation_p.H1765Y|GON4L_ENST00000437809.1_Missense_Mutation_p.H1765Y	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1765	PAH 2. {ECO:0000255|PROSITE- ProRule:PRU00810}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTGCAGGTGGTCGTGGCCCT	0.53																																						uc001flz.2		NA																	0				ovary(3)	3						c.(5290-5295)GACCAC>GATTAC		gon-4-like isoform a																																				SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155727075_155727076GG>AA	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5292_5293delinsAA	1.37:g.155727075_155727076delinsAA	ENSP00000357315:p.His1765Tyr					GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.H1765Y|GON4L_uc009wrh.1_Missense_Mutation_p.H1765Y|GON4L_uc001fma.1_Missense_Mutation_p.H1765Y|GON4L_uc001fmb.3_Missense_Mutation_p.H961Y	p.H1765Y	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			26	5389_5390	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1765			PAH 2.		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	DNP	ENST00000368331.1	37	c.5292_5293CC>TT																																																																																					0.530	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		14	81	0	0	0	0	14	81				
SEMA4A	64218	broad.mit.edu	37	1	156145017	156145017	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156145017C>T	ENST00000368285.3	+	13	1842	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Silent_p.L525L|SEMA4A_ENST00000368284.1_Silent_p.L393L|SEMA4A_ENST00000368286.2_Silent_p.L393L|SEMA4A_ENST00000368282.1_Silent_p.L525L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	525	PSI.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCTGTTGCCTCCTGTCTGCCC	0.617																																						uc001fnl.2		NA																	0				ovary(1)|skin(1)	2						c.(1573-1575)CTC>CTT		semaphorin B precursor							150.0	149.0	149.0					1																	156145017		2203	4300	6503	SO:0001819	synonymous_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156145017C>T	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1575C>T	1.37:g.156145017C>T						SEMA4A_uc009wrq.2_Silent_p.L525L|SEMA4A_uc001fnm.2_Silent_p.L525L|SEMA4A_uc001fnn.2_Silent_p.L393L|SEMA4A_uc001fno.2_Silent_p.L525L	p.L525L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			13	1679	+	Hepatocellular(266;0.158)		525			Extracellular (Potential).|PSI.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	c.1575C>T	CCDS1132.1																																																																																				0.617	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		36	133	0	0	0	0	36	133				
SMG5	23381	broad.mit.edu	37	1	156236039	156236039	+	Missense_Mutation	SNP	C	C	T	rs199931814		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156236039C>T	ENST00000361813.5	-	12	1532	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'UTR	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	463	Poly-Arg.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGGTGGGTGGCGGCGACGGCG	0.602																																						uc001foc.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1387-1389)CGC>CAC		SMG5 homolog nonsense mediated mRNA decay							82.0	76.0	78.0					1																	156236039		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156236039C>T	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1388G>A	1.37:g.156236039C>T	ENSP00000355261:p.Arg463His					SMG5_uc009wrv.2_5'UTR	p.R463H	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			12	1537	-	Hepatocellular(266;0.158)		463			Poly-Arg.		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.1388G>A	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726823	0.48833	.	.	ENSG00000198952	ENST00000361813	T	0.45668	0.89	5.51	1.53	0.23141	.	0.502001	0.20834	N	0.084836	T	0.14184	0.0343	L	0.29908	0.895	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.06092	-1.0846	10	0.40728	T	0.16	-11.343	10.1933	0.43039	0.0:0.6851:0.0:0.3149	.	463	Q9UPR3	SMG5_HUMAN	H	463	ENSP00000355261:R463H	ENSP00000355261:R463H	R	-	2	0	SMG5	154502663	1.000000	0.71417	0.801000	0.32222	0.993000	0.82548	2.568000	0.45965	0.447000	0.26695	0.655000	0.94253	CGC		0.602	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		14	114	0	0	0	0	14	114				
SMG5	23381	broad.mit.edu	37	1	156246880	156246880	+	Silent	SNP	G	G	A	rs544205232		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156246880G>A	ENST00000361813.5	-	4	594	c.450C>T	c.(448-450)ctC>ctT	p.L150L	SMG5_ENST00000368267.5_Silent_p.L150L	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	150					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ACTGACCTATGAGGGGGTCAG	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21973	0.0		0.0	False		,,,				2504	0.0					uc001foc.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(448-450)CTC>CTT		SMG5 homolog nonsense mediated mRNA decay							70.0	63.0	65.0					1																	156246880		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156246880G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.450C>T	1.37:g.156246880G>A							p.L150L	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			4	599	-	Hepatocellular(266;0.158)		150					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.450C>T	CCDS1137.1																																																																																				0.542	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		13	40	0	0	0	0	13	40				
RHBG	57127	broad.mit.edu	37	1	156348150	156348150	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156348150C>T	ENST00000368249.1	+	4	671	c.633C>T	c.(631-633)cgC>cgT	p.R211R	RHBG_ENST00000537040.1_Intron|RHBG_ENST00000451864.2_Silent_p.R179R|RHBG_ENST00000400992.2_Silent_p.R179R|RHBG_ENST00000368246.2_Silent_p.R211R|RHBG_ENST00000255013.3_Silent_p.R142R	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	211					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCAAGCACCGCCAGGGCTCCG	0.622																																						uc010pho.1		NA																	0				ovary(2)	2						c.(631-633)CGC>CGT		Rhesus blood group, B glycoprotein							104.0	110.0	108.0					1																	156348150		2044	4200	6244	SO:0001819	synonymous_variant	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156348150C>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.633C>T	1.37:g.156348150C>T						RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Silent_p.R142R|RHBG_uc009wrz.2_Silent_p.R179R|RHBG_uc001for.2_Silent_p.R181R	p.R211R	NM_020407	NP_065140	Q9H310	RHBG_HUMAN			4	671	+	Hepatocellular(266;0.158)		211			Cytoplasmic (Potential).		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	ENST00000368249.1	37	c.633C>T																																																																																					0.622	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		15	128	0	0	0	0	15	128				
IQGAP3	128239	broad.mit.edu	37	1	156536225	156536225	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156536225A>G	ENST00000361170.2	-	3	249	c.239T>C	c.(238-240)gTt>gCt	p.V80A		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	80	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCAAGGGAACCACGGAGGG	0.577																																						uc001fpf.2		NA																	0				ovary(5)|skin(1)	6						c.(238-240)GTT>GCT		IQ motif containing GTPase activating protein 3							66.0	57.0	60.0					1																	156536225		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156536225A>G	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.239T>C	1.37:g.156536225A>G	ENSP00000354451:p.Val80Ala					IQGAP3_uc009wsb.1_Missense_Mutation_p.V37A	p.V80A	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			3	314	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		80			CH.		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.239T>C	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494026	0.84962	.	.	ENSG00000183856	ENST00000361170	D	0.95788	-3.81	5.43	4.3	0.51218	Calponin homology domain (5);	0.000000	0.64402	D	0.000001	D	0.96904	0.8989	M	0.82323	2.585	0.51233	D	0.999916	D	0.76494	0.999	D	0.87578	0.998	D	0.97015	0.9739	10	0.72032	D	0.01	-6.2057	11.6611	0.51347	0.8513:0.1486:0.0:0.0	.	80	Q86VI3	IQGA3_HUMAN	A	80	ENSP00000354451:V80A	ENSP00000354451:V80A	V	-	2	0	IQGAP3	154802849	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.185000	0.72013	0.877000	0.35895	0.460000	0.39030	GTT		0.577	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		3	25	0	0	0	0	3	25				
BCAN	63827	broad.mit.edu	37	1	156622557	156622558	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156622557_156622558GG>AA	ENST00000329117.5	+	8	2151_2152	c.1815_1816GG>AA	c.(1813-1818)agGGag>agAAag	p.E606K	BCAN_ENST00000361588.5_Missense_Mutation_p.E606K|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	606					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGTACCAGGGAGCTGGAGGC	0.653																																						uc001fpp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1813-1818)AGGGAG>AGAAAG		brevican isoform 1																																				SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156622557_156622558GG>AA	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	Exception_encountered	1.37:g.156622557_156622558delinsAA	ENSP00000331210:p.Glu606Lys					BCAN_uc001fpo.2_Missense_Mutation_p.E606K	p.E606K	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			8	2151_2152	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		606					D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	DNP	ENST00000329117.5	37	c.1815_1816GG>AA	CCDS1149.1																																																																																				0.653	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		3	27	0	0	0	0	3	27				
PEAR1	375033	broad.mit.edu	37	1	156880483	156880483	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156880483G>A	ENST00000338302.3	+	16	2124	c.1899G>A	c.(1897-1899)tcG>tcA	p.S633S	PEAR1_ENST00000292357.7_Silent_p.S633S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	633	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACCCCTCGAACGGGACCT	0.617																																						uc001fqj.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1897-1899)TCG>TCA		platelet endothelial aggregation receptor 1							70.0	55.0	60.0					1																	156880483		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156880483G>A	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1899G>A	1.37:g.156880483G>A						PEAR1_uc001fqk.1_Silent_p.S258S	p.S633S	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			15	2015	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		633			EGF-like 8.		Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.1899G>A	CCDS30892.1																																																																																				0.617	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		4	32	0	0	0	0	4	32				
ARHGEF11	9826	broad.mit.edu	37	1	156909465	156909465	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156909465G>A	ENST00000361409.2	-	36	4593	c.3851C>T	c.(3850-3852)tCt>tTt	p.S1284F	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S700F|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S1324F|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1284					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGTTCCAGAGAACAGAGACC	0.592																																						uc001fqo.2		NA																	0				ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(3850-3852)TCT>TTT		Rho guanine nucleotide exchange factor (GEF) 11							54.0	56.0	56.0					1																	156909465		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156909465G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3851C>T	1.37:g.156909465G>A	ENSP00000354644:p.Ser1284Phe					ARHGEF11_uc010phu.1_Missense_Mutation_p.S700F|ARHGEF11_uc001fqn.2_Missense_Mutation_p.S1324F	p.S1284F	NM_014784	NP_055599	O15085	ARHGB_HUMAN			36	4891	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1284					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.3851C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981422	0.53827	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.69806	-0.43;-0.43;-0.35	4.55	4.55	0.56014	.	0.000000	0.47852	D	0.000212	T	0.62405	0.2425	L	0.29908	0.895	0.26862	N	0.967936	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.85130	0.997;0.993;0.997	T	0.57435	-0.7812	10	0.39692	T	0.17	-10.7374	14.3422	0.66636	0.0:0.0:1.0:0.0	.	700;1284;1324	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	F	1324;1284;700	ENSP00000357177:S1324F;ENSP00000354644:S1284F;ENSP00000313470:S700F	ENSP00000313470:S700F	S	-	2	0	ARHGEF11	155176089	0.975000	0.34042	0.874000	0.34290	0.458000	0.32498	4.195000	0.58400	2.324000	0.78689	0.561000	0.74099	TCT		0.592	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		23	37	0	0	0	0	23	37				
FCRL4	83417	broad.mit.edu	37	1	157559185	157559185	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:157559185C>T	ENST00000271532.1	-	3	251	c.116G>A	c.(115-117)aGa>aAa	p.R39K	FCRL4_ENST00000448509.2_5'Flank	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	39	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAGAGTCACTCTCTCTCCTTT	0.483																																						uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(115-117)AGA>AAA		Fc receptor-like 4 precursor							91.0	76.0	81.0					1																	157559185		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157559185C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.116G>A	1.37:g.157559185C>T	ENSP00000271532:p.Arg39Lys					FCRL4_uc010phy.1_RNA	p.R39K	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			3	252	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	39			Extracellular (Potential).|Ig-like C2-type 1.		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.116G>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.388917	0.01185	.	.	ENSG00000163518	ENST00000271532	T	0.12039	2.72	4.81	-9.61	0.00550	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.047200	0.07648	N	0.931421	T	0.01287	0.0042	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.43228	-0.9404	10	0.11182	T	0.66	.	5.3386	0.15971	0.0695:0.4418:0.1451:0.3437	.	39	Q96PJ5	FCRL4_HUMAN	K	39	ENSP00000271532:R39K	ENSP00000271532:R39K	R	-	2	0	FCRL4	155825809	0.000000	0.05858	0.001000	0.08648	0.344000	0.29017	-5.981000	0.00087	-1.667000	0.01473	-1.283000	0.01379	AGA		0.483	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		8	35	0	0	0	0	8	35				
OR10T2	128360	broad.mit.edu	37	1	158368957	158368957	+	Silent	SNP	G	G	A	rs528859251	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:158368957G>A	ENST00000334438.1	-	1	299	c.300C>T	c.(298-300)acC>acT	p.T100T		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGAACAGCTGGGTGGCACAGG	0.493													G|||	8	0.00159744	0.0	0.0	5008	,	,		21530	0.0		0.0	False		,,,				2504	0.0082					uc010pih.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(298-300)ACC>ACT		olfactory receptor, family 10, subfamily T,							103.0	105.0	105.0					1																	158368957		2203	4300	6503	SO:0001819	synonymous_variant	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368957G>A	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.300C>T	1.37:g.158368957G>A							p.T100T	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	300	-	all_hematologic(112;0.0378)		100			Extracellular (Potential).		Q6IF98	Silent	SNP	ENST00000334438.1	37	c.300C>T	CCDS30895.1																																																																																				0.493	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		8	47	0	0	0	0	8	47				
OR10K1	391109	broad.mit.edu	37	1	158436049	158436049	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:158436049G>A	ENST00000289451.2	+	1	778	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	233						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(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTCCGTTGGAAGATACAAG	0.448																																						uc010pij.1		NA																	0				ovary(1)	1						c.(697-699)GGA>GAA		olfactory receptor, family 10, subfamily K,							143.0	124.0	131.0					1																	158436049		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436049G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.698G>A	1.37:g.158436049G>A	ENSP00000289451:p.Gly233Glu						p.G233E	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	698	+	all_hematologic(112;0.0378)		233			Cytoplasmic (Potential).		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.698G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	7.174	0.588260	0.13812	.	.	ENSG00000173285	ENST00000289451	T	0.00287	8.29	4.24	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.185270	0.26143	N	0.026091	T	0.00178	0.0005	M	0.86651	2.83	0.09310	N	0.999999	P	0.41345	0.746	B	0.41813	0.367	T	0.10753	-1.0616	10	0.87932	D	0	.	11.2931	0.49263	0.0918:0.0:0.9081:0.0	.	233	Q8NGX5	O10K1_HUMAN	E	233	ENSP00000289451:G233E	ENSP00000289451:G233E	G	+	2	0	OR10K1	156702673	0.642000	0.27260	0.166000	0.22797	0.180000	0.23129	1.857000	0.39399	0.984000	0.38629	-0.225000	0.12378	GGA		0.448	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			18	87	0	0	0	0	18	87				
OR6K6	128371	broad.mit.edu	37	1	158724701	158724701	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:158724701G>A	ENST00000368144.2	+	1	192	c.96G>A	c.(94-96)ggG>ggA	p.G32G		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	32						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)					CGGCCAGTGGGAATCAGACAA	0.433																																						uc001fsw.1		NA																	0				skin(1)	1						c.(94-96)GGG>GGA		olfactory receptor, family 6, subfamily K,							187.0	175.0	179.0					1																	158724701		2203	4300	6503	SO:0001819	synonymous_variant	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158724701G>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.96G>A	1.37:g.158724701G>A							p.G32G	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	96	+	all_hematologic(112;0.0378)		32			Extracellular (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	ENST00000368144.2	37	c.96G>A	CCDS30904.1																																																																																				0.433	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		26	91	0	0	0	0	26	91				
ACKR1	2532	broad.mit.edu	37	1	159176033	159176033	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:159176033C>T	ENST00000368122.2	+	2	1483	c.804C>T	c.(802-804)tcC>tcT	p.S268S	DARC_ENST00000537147.1_Silent_p.S268S|DARC_ENST00000368121.2_Silent_p.S270S|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		268					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGGTGAGGTCCAAGCTGTTGC	0.572																																						uc001fto.2		NA																	0				ovary(1)|lung(1)	2						c.(802-804)TCC>TCT		Duffy blood group antigen isoform b							133.0	133.0	133.0					1																	159176033		2203	4300	6503	SO:0001819	synonymous_variant	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159176033C>T																												ENST00000368122.2:c.804C>T	1.37:g.159176033C>T						DARC_uc001ftp.3_Silent_p.S270S	p.S268S	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	1044	+	all_hematologic(112;0.0429)		268			Extracellular (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	ENST00000368122.2	37	c.804C>T	CCDS1183.1																																																																																				0.572	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			26	110	0	0	0	0	26	110				
NHLH1	4807	broad.mit.edu	37	1	160340725	160340726	+	Missense_Mutation	DNP	CC	CC	TT	rs569320034	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:160340725_160340726CC>TT	ENST00000302101.5	+	2	650_651	c.204_205CC>TT	c.(202-207)cgCCgg>cgTTgg	p.R69W		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	69	Poly-Arg.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			Agcgccggcgccggcgccgcgc	0.743																																						uc001fwa.2		NA																	0				ovary(1)	1						c.(202-207)CGCCGG>CGTTGG		nescient helix loop helix 1																																				SO:0001583	missense	4807				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:160340725_160340726CC>TT	BC013789	CCDS1204.1	1q22	2013-05-21			ENSG00000171786	ENSG00000171786		"""Basic helix-loop-helix proteins"""	7817	protein-coding gene	gene with protein product		162360		HEN1			Standard	NM_005598		Approved	NSCL, NSCL1, bHLHa35	uc001fwa.2	Q02575	OTTHUMG00000033121	Exception_encountered	1.37:g.160340725_160340726delinsTT	ENSP00000302189:p.Arg69Trp						p.R69W	NM_005598	NP_005589	Q02575	HEN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	646_647	+	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		69			Poly-Arg.			Missense_Mutation	DNP	ENST00000302101.5	37	c.204_205CC>TT	CCDS1204.1																																																																																				0.743	NHLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080676.1	NM_005598		7	10	0	0	0	0	7	10				
ITLN1	55600	broad.mit.edu	37	1	160849204	160849204	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:160849204C>T	ENST00000326245.3	-	7	801	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	229	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGTGAATTCCCCTGAAAACAA	0.493																																						uc001fxc.2		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7						c.(685-687)CGG>CAG		intelectin precursor							87.0	78.0	81.0					1																	160849204		2203	4300	6503	SO:0001630	splice_region_variant	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160849204C>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.686-1G>A	1.37:g.160849204C>T							p.R229Q	NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		7	802	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		229			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.686G>A	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	6.550	0.469731	0.12461	.	.	ENSG00000179914	ENST00000326245	T	0.15256	2.44	3.96	-7.92	0.01160	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	5.739830	0.00559	N	0.000271	T	0.03520	0.0101	L	0.35723	1.085	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.14615	-1.0466	10	0.25751	T	0.34	.	9.1829	0.37152	0.1071:0.6744:0.1067:0.1118	.	229	Q8WWA0	ITLN1_HUMAN	Q	229	ENSP00000323587:R229Q	ENSP00000323587:R229Q	R	-	2	0	ITLN1	159115828	0.000000	0.05858	0.002000	0.10522	0.299000	0.27559	-4.360000	0.00246	-2.175000	0.00771	-2.351000	0.00242	CGG		0.493	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625	Missense_Mutation	9	40	0	0	0	0	9	40				
ARHGAP30	257106	broad.mit.edu	37	1	161018122	161018122	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:161018122C>T	ENST00000368013.3	-	12	3009	c.2689G>A	c.(2689-2691)Gag>Aag	p.E897K	USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E686K|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E720K|USF1_ENST00000435396.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	897	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.E686K(1)|p.E897K(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCTCCATCTCCTCTGGCTGA	0.597																																						uc001fxl.2		NA																	2	Substitution - Missense(2)		cervix(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2689-2691)GAG>AAG		Rho GTPase activating protein 30 isoform 1							42.0	38.0	39.0					1																	161018122		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161018122C>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2689G>A	1.37:g.161018122C>T	ENSP00000356992:p.Glu897Lys					USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Missense_Mutation_p.E686K|ARHGAP30_uc001fxm.2_Missense_Mutation_p.E743K|ARHGAP30_uc009wtx.2_Missense_Mutation_p.E570K	p.E897K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	3035	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		897			Glu-rich.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.2689G>A	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	8.923	0.961619	0.18583	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.34275	2.96;2.9;1.37	4.7	3.75	0.43078	.	0.458599	0.18377	N	0.143066	T	0.17152	0.0412	M	0.63428	1.95	0.09310	N	1	B;B	0.30482	0.281;0.275	B;B	0.27796	0.083;0.025	T	0.08743	-1.0707	10	0.30078	T	0.28	.	12.3216	0.54987	0.0:0.8277:0.1723:0.0	.	897;686	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	K	686;897;720	ENSP00000356995:E686K;ENSP00000356992:E897K;ENSP00000356994:E720K	ENSP00000356992:E897K	E	-	1	0	ARHGAP30	159284746	0.035000	0.19736	0.313000	0.25210	0.112000	0.19704	1.494000	0.35616	0.903000	0.36546	0.455000	0.32223	GAG		0.597	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		7	30	0	0	0	0	7	30				
ADAMTS4	9507	broad.mit.edu	37	1	161168017	161168017	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:161168017C>T	ENST00000367996.5	-	1	829	c.401G>A	c.(400-402)gGa>gAa	p.G134E	ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000367995.3_Missense_Mutation_p.G134E	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	134					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CTCCGGATCTCCATTGATGGT	0.637																																						uc001fyt.3		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(400-402)GGA>GAA		ADAM metallopeptidase with thrombospondin type 1							60.0	59.0	60.0					1																	161168017		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161168017C>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.401G>A	1.37:g.161168017C>T	ENSP00000356975:p.Gly134Glu					ADAMTS4_uc001fyu.2_Missense_Mutation_p.G134E|NDUFS2_uc001fyv.2_5'Flank	p.G134E	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	829	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		134					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.401G>A	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369683	0.61624	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.09163	3.01;3.01	5.57	5.57	0.84162	Peptidase M12B, propeptide (1);	0.238514	0.29653	N	0.011542	T	0.20210	0.0486	L	0.57536	1.79	0.80722	D	1	D;P	0.76494	0.999;0.792	D;B	0.75484	0.986;0.411	T	0.00183	-1.1945	10	0.72032	D	0.01	.	13.1927	0.59719	0.0:0.7298:0.2701:0.0	.	134;134	Q5VTW1;O75173	.;ATS4_HUMAN	E	134	ENSP00000356975:G134E;ENSP00000356974:G134E	ENSP00000356974:G134E	G	-	2	0	ADAMTS4	159434641	0.101000	0.21875	1.000000	0.80357	0.987000	0.75469	0.554000	0.23407	2.625000	0.88918	0.484000	0.47621	GGA		0.637	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		14	49	0	0	0	0	14	49				
SH2D1B	117157	broad.mit.edu	37	1	162368801	162368801	+	Missense_Mutation	SNP	C	C	T	rs569322001	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:162368801C>T	ENST00000367929.2	-	3	384	c.275G>A	c.(274-276)gGg>gAg	p.G92E	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	92	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AACCACCATCCCCTGATTTGG	0.398																																						uc001gbz.1		NA																	0				pancreas(1)	1						c.(274-276)GGG>GAG		SH2 domain containing 1B							90.0	86.0	87.0					1																	162368801		2203	4300	6503	SO:0001583	missense	117157							g.chr1:162368801C>T	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.275G>A	1.37:g.162368801C>T	ENSP00000356906:p.Gly92Glu					SH2D1B_uc001gca.1_Intron	p.G92E	NM_053282	NP_444512	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		3	397	-	all_hematologic(112;0.115)		92			SH2.		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.275G>A	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525135	0.44969	.	.	ENSG00000198574	ENST00000367929	T	0.47869	0.83	4.77	4.77	0.60923	SH2 motif (3);	0.000000	0.64402	D	0.000006	T	0.64907	0.2641	M	0.85542	2.76	0.30041	N	0.812582	D	0.89917	1.0	D	0.97110	1.0	T	0.72308	-0.4332	9	0.87932	D	0	-41.4213	13.1575	0.59527	0.0:1.0:0.0:0.0	.	92	O14796	SH21B_HUMAN	E	92	ENSP00000356906:G92E	ENSP00000356906:G92E	G	-	2	0	SH2D1B	160635425	0.995000	0.38212	0.978000	0.43139	0.018000	0.09664	3.634000	0.54302	2.453000	0.82957	0.655000	0.94253	GGG		0.398	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		9	62	0	0	0	0	9	62				
FAM78B	149297	broad.mit.edu	37	1	166039968	166039968	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:166039968C>T	ENST00000338353.3	-	3	885	c.296G>A	c.(295-297)gGg>gAg	p.G99E	FAM78B_ENST00000354422.3_Missense_Mutation_p.G99E			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	99										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TTTTACTCTCCCTTCCCTCAA	0.507																																						uc001gdr.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(295-297)GGG>GAG		hypothetical protein LOC149297							61.0	61.0	61.0					1																	166039968		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166039968C>T	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.296G>A	1.37:g.166039968C>T	ENSP00000339681:p.Gly99Glu					FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_5'Flank	p.G99E	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN			3	886	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		99					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.296G>A	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133509	0.77662	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.54	4.63	0.57726	.	0.043781	0.85682	N	0.000000	T	0.67599	0.2910	M	0.73962	2.25	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	T	0.74970	-0.3482	8	0.87932	D	0	-2.3266	12.6053	0.56519	0.0:0.9191:0.0:0.0809	.	99	Q5VT40	FA78B_HUMAN	E	99	.	ENSP00000339681:G99E	G	-	2	0	FAM78B	164306592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.639000	0.83342	1.473000	0.48159	0.655000	0.94253	GGG		0.507	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		10	44	0	0	0	0	10	44				
CCDC181	57821	broad.mit.edu	37	1	169390941	169390941	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:169390941T>A	ENST00000367806.3	-	3	880	c.728A>T	c.(727-729)aAt>aTt	p.N243I	CCDC181_ENST00000545005.1_Missense_Mutation_p.N243I|CCDC181_ENST00000367805.3_Missense_Mutation_p.N243I|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	243						nucleus (GO:0005634)											ATTTGCATTATTAATGGGAGG	0.398																																						uc001gga.1		NA																	0					0						c.(727-729)AAT>ATT		hypothetical protein LOC57821							121.0	120.0	120.0					1																	169390941		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169390941T>A	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.728A>T	1.37:g.169390941T>A	ENSP00000356780:p.Asn243Ile					C1orf114_uc001gfz.1_Missense_Mutation_p.N243I|C1orf114_uc009wvq.1_Missense_Mutation_p.N243I|C1orf114_uc001ggb.2_Missense_Mutation_p.N243I|C1orf114_uc001ggc.1_Missense_Mutation_p.N243I	p.N243I	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			3	896	-	all_hematologic(923;0.208)		243					O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.728A>T		.	.	.	.	.	.	.	.	.	.	T	10.70	1.422943	0.25639	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.24723	1.9;1.9;1.9;1.84	5.31	-0.804	0.10882	.	0.820893	0.11137	N	0.595736	T	0.17023	0.0409	L	0.60455	1.87	0.28340	N	0.921386	P;P;P	0.48503	0.911;0.911;0.911	P;B;B	0.47981	0.563;0.387;0.387	T	0.12967	-1.0527	9	0.66056	D	0.02	-1.7266	10.615	0.45445	0.0:0.5451:0.0:0.4549	.	243;243;243	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	I	243	ENSP00000356779:N243I;ENSP00000356780:N243I;ENSP00000442297:N243I;ENSP00000411000:N243I	ENSP00000356779:N243I	N	-	2	0	C1orf114	167657565	0.744000	0.28250	0.509000	0.27700	0.840000	0.47671	-0.062000	0.11674	-0.163000	0.10946	0.455000	0.32223	AAT		0.398	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		25	100	0	0	0	0	25	100				
F5	2153	broad.mit.edu	37	1	169511036	169511036	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:169511036G>A	ENST00000367797.3	-	13	3493	c.3292C>T	c.(3292-3294)Cct>Tct	p.P1098S	F5_ENST00000367796.3_Missense_Mutation_p.P1103S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1098	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTATGGTCAGGAAGTGAGGCT	0.458																																						uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3292-3294)CCT>TCT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						144.0	134.0	137.0					1																	169511036		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511036G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3292C>T	1.37:g.169511036G>A	ENSP00000356771:p.Pro1098Ser						p.P1098S	NM_000130	NP_000121	P12259	FA5_HUMAN			13	3437	-	all_hematologic(923;0.208)		1098			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3292C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388281	0.61956	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.19669	2.13;2.13	4.91	3.02	0.34903	.	1.135550	0.06307	N	0.701918	T	0.15219	0.0367	L	0.61218	1.895	0.25215	N	0.989949	D	0.54397	0.966	P	0.49012	0.598	T	0.09952	-1.0651	9	0.49607	T	0.09	-1.2674	6.2368	0.20768	0.0939:0.0:0.723:0.1832	.	1098	P12259	FA5_HUMAN	S	1098;1103	ENSP00000356771:P1098S;ENSP00000356770:P1103S	ENSP00000356770:P1103S	P	-	1	0	F5	167777660	0.970000	0.33590	0.666000	0.29783	0.768000	0.43524	0.802000	0.27069	0.781000	0.33589	0.545000	0.68477	CCT		0.458	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		28	106	0	0	0	0	28	106				
SELP	6403	broad.mit.edu	37	1	169578891	169578891	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:169578891C>T	ENST00000263686.6	-	8	1221	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	SELP_ENST00000458599.2_Missense_Mutation_p.G333E|SELP_ENST00000367792.2_Missense_Mutation_p.G333E|SELP_ENST00000367793.2_Missense_Mutation_p.G333E|SELP_ENST00000367786.2_Missense_Mutation_p.G333E|SELP_ENST00000367794.2_Missense_Mutation_p.G333E|SELP_ENST00000367788.2_Missense_Mutation_p.G333E|SELP_ENST00000367791.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	395	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ATCCATGCTTCCGTGGACAGG	0.488																																						uc001ggi.3		NA																	0				ovary(2)|skin(2)	4						c.(1183-1185)GGA>GAA		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						90.0	76.0	81.0					1																	169578891		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169578891C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1184G>A	1.37:g.169578891C>T	ENSP00000263686:p.Gly395Glu					SELP_uc001ggh.2_Missense_Mutation_p.G230E|SELP_uc009wvr.2_Missense_Mutation_p.G395E	p.G395E	NM_003005	NP_002996	P16109	LYAM3_HUMAN			8	1249	-	all_hematologic(923;0.208)		395			Sushi 4.|Extracellular (Potential).		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1184G>A	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685760	0.68157	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T	0.69561	-0.41;0.46;-0.41;-0.41;0.46;-0.41	5.74	4.8	0.61643	Complement control module (2);Sushi/SCR/CCP (3);	0.107159	0.41605	D	0.000850	D	0.87799	0.6268	H	0.99143	4.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.997	D	0.91429	0.5164	10	0.87932	D	0	-24.3372	13.243	0.60008	0.1581:0.8419:0.0:0.0	.	395;395;395	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	E	395;394;333;395;395;333;333;333;333;333;318	ENSP00000263686:G395E;ENSP00000356767:G333E;ENSP00000356768:G333E;ENSP00000356766:G333E;ENSP00000356762:G333E;ENSP00000356760:G333E	ENSP00000263686:G395E	G	-	2	0	SELP	167845515	0.641000	0.27251	0.239000	0.24122	0.834000	0.47266	1.902000	0.39848	2.712000	0.92718	0.650000	0.86243	GGA		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		4	34	0	0	0	0	4	34				
FMO3	2328	broad.mit.edu	37	1	171083464	171083464	+	Missense_Mutation	SNP	T	T	C	rs201860024		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:171083464T>C	ENST00000367755.4	+	7	1256	c.1145T>C	c.(1144-1146)gTt>gCt	p.V382A	FMO3_ENST00000538429.1_Missense_Mutation_p.V319A|FMO3_ENST00000392085.2_Missense_Mutation_p.V382A|FMO3_ENST00000542847.1_Missense_Mutation_p.V362A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	382					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ATTCCCACAGTTGACCTCCAG	0.453																																						uc001ghi.2		NA																	0				skin(1)	1						c.(1144-1146)GTT>GCT		flavin containing monooxygenase 3							43.0	47.0	45.0					1																	171083464		2203	4299	6502	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171083464T>C	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1145T>C	1.37:g.171083464T>C	ENSP00000356729:p.Val382Ala					FMO3_uc001ghh.2_Missense_Mutation_p.V382A|FMO3_uc010pmb.1_Missense_Mutation_p.V362A|FMO3_uc010pmc.1_Missense_Mutation_p.V319A	p.V382A	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			7	1256	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		382					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1145T>C	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	T	2.418	-0.333804	0.05278	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.92	-0.718	0.11205	.	0.768215	0.13097	N	0.414067	T	0.03477	0.0100	N	0.01705	-0.755	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.38542	-0.9656	10	0.02654	T	1	-2.4343	2.5214	0.04681	0.1188:0.485:0.1161:0.2802	.	319;362;382	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	A	382;382;362;319	ENSP00000356729:V382A;ENSP00000375935:V382A;ENSP00000444073:V362A;ENSP00000439500:V319A	ENSP00000356729:V382A	V	+	2	0	FMO3	169350088	0.000000	0.05858	0.049000	0.19019	0.967000	0.64934	0.320000	0.19540	-0.044000	0.13491	-0.182000	0.12963	GTT		0.453	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		20	23	0	0	0	0	20	23				
FMO2	2327	broad.mit.edu	37	1	171173050	171173050	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:171173050C>T	ENST00000209929.7	+	6	832	c.674C>T	c.(673-675)tCt>tTt	p.S225F	RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.S225F|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	225					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCCGTATCTCTGAAGATGGC	0.473																																						uc001ghk.1		NA																	0				skin(1)	1						c.(673-675)TCT>TTT		flavin containing monooxygenase 2							132.0	103.0	113.0					1																	171173050		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171173050C>T	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.674C>T	1.37:g.171173050C>T	ENSP00000209929:p.Ser225Phe					FMO2_uc010pmd.1_Missense_Mutation_p.S5F	p.S225F	NM_001460	NP_001451	Q99518	FMO2_HUMAN			6	791	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		225					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.674C>T	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	C	7.748	0.702761	0.15172	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.57752	0.38;0.38	6.13	6.13	0.99165	.	0.217041	0.49305	D	0.000149	T	0.16342	0.0393	N	0.12569	0.235	0.35974	D	0.835546	B	0.15141	0.012	B	0.24006	0.05	T	0.09662	-1.0664	10	0.09843	T	0.71	-25.723	10.6921	0.45877	0.1461:0.713:0.1409:0.0	.	225	Q99518	FMO2_HUMAN	F	225	ENSP00000209929:S225F;ENSP00000405905:S225F	ENSP00000209929:S225F	S	+	2	0	FMO2	169439674	0.000000	0.05858	0.995000	0.50966	0.763000	0.43281	0.000000	0.12993	2.937000	0.99478	0.650000	0.86243	TCT		0.473	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		8	30	0	0	0	0	8	30				
TNR	7143	broad.mit.edu	37	1	175306677	175306677	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:175306677C>T	ENST00000367674.2	-	19	4229	c.3521G>A	c.(3520-3522)gGg>gAg	p.G1174E	TNR_ENST00000263525.2_Missense_Mutation_p.G1174E|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1174	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGCCGCCCCCGTCGGTGGT	0.502																																						uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3520-3522)GGG>GAG		tenascin R precursor							79.0	73.0	75.0					1																	175306677		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175306677C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3521G>A	1.37:g.175306677C>T	ENSP00000356646:p.Gly1174Glu					TNR_uc009wwu.1_Missense_Mutation_p.G1174E	p.G1174E	NM_003285	NP_003276	Q92752	TENR_HUMAN			17	3602	-	Renal(580;0.146)		1174			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3521G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371190	0.42003	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.27402	1.67;1.67	5.23	5.23	0.72850	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.059072	0.64402	D	0.000002	T	0.42154	0.1190	M	0.88241	2.94	0.58432	D	0.999994	B	0.26809	0.16	B	0.24155	0.051	T	0.48387	-0.9040	10	0.66056	D	0.02	.	13.6324	0.62202	0.0:0.7186:0.2814:0.0	.	1174	Q92752	TENR_HUMAN	E	1174;1174;1084	ENSP00000356646:G1174E;ENSP00000263525:G1174E	ENSP00000263525:G1174E	G	-	2	0	TNR	173573300	0.990000	0.36364	0.708000	0.30435	0.952000	0.60782	2.810000	0.47979	2.431000	0.82371	0.561000	0.74099	GGG		0.502	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		19	34	0	0	0	0	19	34				
ASTN1	460	broad.mit.edu	37	1	176863845	176863845	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:176863845C>T	ENST00000367654.3	-	17	3028	c.2817G>A	c.(2815-2817)atG>atA	p.M939I	ASTN1_ENST00000424564.2_Missense_Mutation_p.M931I|ASTN1_ENST00000367657.3_Missense_Mutation_p.M931I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M931I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	939					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGTGGCACTCCATGCGGACTC	0.612																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2791-2793)ATG>ATA		astrotactin isoform 1							97.0	94.0	95.0					1																	176863845		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176863845C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2817G>A	1.37:g.176863845C>T	ENSP00000356626:p.Met939Ile					ASTN1_uc001glb.1_Missense_Mutation_p.M931I|ASTN1_uc001gld.1_Missense_Mutation_p.M931I	p.M931I	NM_004319	NP_004310	O14525	ASTN1_HUMAN			17	3005	-			939					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2793G>A		.	.	.	.	.	.	.	.	.	.	C	12.94	2.087333	0.36855	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.26	5.26	0.73747	.	0.034888	0.85682	D	0.000000	T	0.14227	0.0344	N	0.17312	0.475	0.80722	D	1	B;B	0.15930	0.015;0.015	B;B	0.11329	0.006;0.006	T	0.09122	-1.0689	10	0.08837	T	0.75	-35.3288	18.8334	0.92150	0.0:1.0:0.0:0.0	.	931;931	O14525-2;B1AJS1	.;.	I	931;931;939;931;931	ENSP00000356629:M931I;ENSP00000354536:M931I;ENSP00000356626:M939I;ENSP00000395041:M931I	ENSP00000354536:M931I	M	-	3	0	ASTN1	175130468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.018000	0.76406	2.640000	0.89533	0.655000	0.94253	ATG		0.612	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		13	76	0	0	0	0	13	76				
ASTN1	460	broad.mit.edu	37	1	176927501	176927501	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:176927501C>T	ENST00000367654.3	-	10	1951	c.1740G>A	c.(1738-1740)atG>atA	p.M580I	ASTN1_ENST00000424564.2_Missense_Mutation_p.M572I|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.M572I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M572I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	580					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGCATCCTCCATCACAGTCA	0.537																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1714-1716)ATG>ATA		astrotactin isoform 1							126.0	94.0	105.0					1																	176927501		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176927501C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1740G>A	1.37:g.176927501C>T	ENSP00000356626:p.Met580Ile					ASTN1_uc001glb.1_Missense_Mutation_p.M572I|ASTN1_uc001gld.1_Missense_Mutation_p.M572I|ASTN1_uc009wwx.1_Missense_Mutation_p.M572I	p.M572I	NM_004319	NP_004310	O14525	ASTN1_HUMAN			10	1928	-			580					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1716G>A		.	.	.	.	.	.	.	.	.	.	C	17.13	3.310748	0.60414	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14022	2.54;2.95;2.95;2.54	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.09905	0.0243	N	0.14661	0.345	0.80722	D	1	P;B;B	0.36837	0.571;0.187;0.187	B;B;B	0.30855	0.121;0.058;0.058	T	0.14090	-1.0485	10	0.59425	D	0.04	-36.8103	18.9852	0.92766	0.0:1.0:0.0:0.0	.	580;572;572	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	I	572;572;580;572;572	ENSP00000356629:M572I;ENSP00000354536:M572I;ENSP00000356626:M580I;ENSP00000395041:M572I	ENSP00000354536:M572I	M	-	3	0	ASTN1	175194124	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.850000	0.62889	2.572000	0.86782	0.655000	0.94253	ATG		0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		32	49	0	0	0	0	32	49				
SEC16B	89866	broad.mit.edu	37	1	177909754	177909754	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:177909754C>T	ENST00000308284.6	-	17	2207	c.2118G>A	c.(2116-2118)agG>agA	p.R706R	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	706					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCTCCAGCTGCCTCCGAAGTT	0.557																																						uc001gli.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2116-2118)AGG>AGA		leucine zipper transcription regulator 2							40.0	51.0	48.0					1																	177909754		2174	4265	6439	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177909754C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2118G>A	1.37:g.177909754C>T						SEC16B_uc001glk.1_Silent_p.R383R|SEC16B_uc009wwy.1_Silent_p.R261R|SEC16B_uc001glh.1_Silent_p.R365R|SEC16B_uc009wwz.1_Silent_p.R365R|SEC16B_uc001glj.1_Silent_p.R707R	p.R706R	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			17	2208	-			706					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.2118G>A	CCDS44281.1																																																																																				0.557	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		7	24	0	0	0	0	7	24				
CACNA1E	777	broad.mit.edu	37	1	181741312	181741312	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:181741312G>A	ENST00000367573.2	+	37	5084	c.5084G>A	c.(5083-5085)gGc>gAc	p.G1695D	CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1302D|RNA5SP70_ENST00000517168.1_RNA|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1646D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1676D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1627D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.G1676D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1695D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1695					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAACGCTGCGGCACCGATCTG	0.557																																						uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5083-5085)GGC>GAC		calcium channel, voltage-dependent, R type,							205.0	206.0	206.0					1																	181741312		2187	4276	6463	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181741312G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5084G>A	1.37:g.181741312G>A	ENSP00000356545:p.Gly1695Asp					CACNA1E_uc009wxs.2_Missense_Mutation_p.G1583D|CACNA1E_uc001gox.1_Missense_Mutation_p.G921D|CACNA1E_uc009wxt.2_Missense_Mutation_p.G921D	p.G1695D	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			37	5249	+			1695			Extracellular (Potential).|IV.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5084G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	36	5.715231	0.96830	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	5.77	5.77	0.91146	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99357	0.9774	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.99060	1.0830	10	0.87932	D	0	.	19.5857	0.95489	0.0:0.0:1.0:0.0	.	1676;1695;1695	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	D	1695;1676;1646;1627;1302;1676;1695	ENSP00000356542:G1695D;ENSP00000434814:G1676D;ENSP00000350183:G1646D;ENSP00000351101:G1627D;ENSP00000356539:G1302D;ENSP00000353222:G1676D;ENSP00000356545:G1695D	ENSP00000350183:G1646D	G	+	2	0	CACNA1E	180007935	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.721000	0.98766	2.737000	0.93849	0.643000	0.83706	GGC		0.557	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		61	100	0	0	0	0	61	100				
DHX9	1660	broad.mit.edu	37	1	182856371	182856371	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:182856371C>A	ENST00000367549.3	+	28	3725	c.3615C>A	c.(3613-3615)tcC>tcA	p.S1205S	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1205	NTD.			NSFRAGYG -> TPSGRIC (in Ref. 1; AAB48855). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCGCCAACTCCTTTCGGGCAG	0.557																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2		NA																	0				ovary(2)	2						c.(3613-3615)TCC>TCA		DEAH (Asp-Glu-Ala-His) box polypeptide 9							108.0	117.0	114.0					1																	182856371		1971	4156	6127	SO:0001819	synonymous_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182856371C>A	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3615C>A	1.37:g.182856371C>A						DHX9_uc001gps.2_Silent_p.S991S|DHX9_uc001gpt.2_Silent_p.S484S|DHX9_uc009wyd.2_Silent_p.S170S	p.S1205S	NM_001357	NP_001348	Q08211	DHX9_HUMAN			28	3778	+			1205	NSFRAGYG -> TPSGRIC (in Ref. 1; AAB48855).		NTD.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	c.3615C>A	CCDS41444.1																																																																																				0.557	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		22	97	1	0	3.88e-16	4.02e-16	22	97				
HMCN1	83872	broad.mit.edu	37	1	186092317	186092317	+	Missense_Mutation	SNP	G	G	A	rs537694143		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:186092317G>A	ENST00000271588.4	+	81	12693	c.12464G>A	c.(12463-12465)gGa>gAa	p.G4155E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4155E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4155	Ig-like C2-type 40.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATGTAGCAGGATCAAGCAGC	0.502																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(12463-12465)GGA>GAA		hemicentin 1 precursor							57.0	42.0	47.0					1																	186092317		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186092317G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12464G>A	1.37:g.186092317G>A	ENSP00000271588:p.Gly4155Glu						p.G4155E	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			81	12693	+			4155			Ig-like C2-type 40.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12464G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965249	0.74131	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.81163	-1.46;-1.46	5.85	5.85	0.93711	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93227	0.6614	10	0.87932	D	0	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	4155	Q96RW7	HMCN1_HUMAN	E	4155	ENSP00000271588:G4155E;ENSP00000356462:G4155E	ENSP00000271588:G4155E	G	+	2	0	HMCN1	184358940	1.000000	0.71417	0.799000	0.32177	0.045000	0.14185	9.599000	0.98280	2.768000	0.95171	0.655000	0.94253	GGA		0.502	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	26	0	0	0	0	7	26				
GLRX2	51022	broad.mit.edu	37	1	193065760	193065760	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:193065760G>A	ENST00000367439.3	-	4	538	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	GLRX2_ENST00000367440.3_Nonsense_Mutation_p.Q165*|GLRX2_ENST00000472197.1_5'Flank	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	164					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	AAACATCACTGAAATTCTTTC	0.323																																						uc001gsz.1		NA																	0					0						c.(490-492)CAG>TAG		glutaredoxin 2 isoform 2	Glutathione(DB00143)						53.0	53.0	53.0					1																	193065760		2201	4300	6501	SO:0001587	stop_gained	51022				apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity	g.chr1:193065760G>A	AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"""bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"""	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677	ENST00000367439.3:c.490C>T	1.37:g.193065760G>A	ENSP00000356409:p.Gln164*					GLRX2_uc001gta.1_Nonsense_Mutation_p.Q165*	p.Q164*	NM_197962	NP_932066	Q9NS18	GLRX2_HUMAN			4	534	-			164					Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Nonsense_Mutation	SNP	ENST00000367439.3	37	c.490C>T	CCDS1381.1	.	.	.	.	.	.	.	.	.	.	G	35	5.594831	0.96602	.	.	ENSG00000023572	ENST00000367439;ENST00000367440	.	.	.	4.94	-0.964	0.10326	.	2.078800	0.02761	N	0.118618	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	2.7212	0.05201	0.2478:0.1498:0.4625:0.1398	.	.	.	.	X	164;165	.	ENSP00000356409:Q164X	Q	-	1	0	GLRX2	191332383	0.007000	0.16637	0.013000	0.15412	0.775000	0.43874	-0.418000	0.07080	0.160000	0.19432	0.561000	0.74099	CAG		0.323	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086699.1	NM_016066		12	9	0	0	0	0	12	9				
KCNT2	343450	broad.mit.edu	37	1	196438186	196438186	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:196438186C>T	ENST00000294725.9	-	6	1312	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.E133K|KCNT2_ENST00000367433.5_Missense_Mutation_p.E133K|KCNT2_ENST00000367431.4_Missense_Mutation_p.E133K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	133					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAATCTGTTCCCAGATGTTT	0.338																																						uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(397-399)GAA>AAA		potassium channel, subfamily T, member 2							40.0	41.0	40.0					1																	196438186		2199	4288	6487	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196438186C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.397G>A	1.37:g.196438186C>T	ENSP00000294725:p.Glu133Lys					KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Missense_Mutation_p.E133K|KCNT2_uc001gtf.1_Missense_Mutation_p.E133K|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.E133K|KCNT2_uc009wyv.1_Intron	p.E133K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			6	457	-			133			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.397G>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700307	0.68501	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.17370	2.28;2.28;2.52	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000018	T	0.27063	0.0663	M	0.80616	2.505	0.80722	D	1	B;B;B;B	0.20780	0.048;0.041;0.024;0.048	B;B;B;B	0.25291	0.027;0.059;0.022;0.027	T	0.05903	-1.0857	10	0.22706	T	0.39	-23.7265	18.1303	0.89599	0.0:1.0:0.0:0.0	.	133;133;133;133	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	K	133	ENSP00000356403:E133K;ENSP00000356401:E133K;ENSP00000294725:E133K	ENSP00000294725:E133K	E	-	1	0	KCNT2	194704809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.776000	0.75023	2.812000	0.96745	0.557000	0.71058	GAA		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		4	13	0	0	0	0	4	13				
CFHR1	3078	broad.mit.edu	37	1	196796106	196796106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:196796106G>A	ENST00000320493.5	+	3	489	c.401G>A	c.(400-402)tGg>tAg	p.W134*	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Nonsense_Mutation_p.W134*	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	134	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GAACGGGGCTGGTCCACCCCT	0.388																																						uc001gtn.2		NA																	0					0						c.(400-402)TGG>TAG		complement factor H-related 1 precursor							88.0	96.0	94.0					1																	196796106		1875	4122	5997	SO:0001587	stop_gained	3078				complement activation	extracellular space		g.chr1:196796106G>A	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.401G>A	1.37:g.196796106G>A	ENSP00000314299:p.Trp134*					CFHR1_uc001gtm.2_Intron	p.W134*	NM_002113	NP_002104	Q03591	FHR1_HUMAN			3	515	+			134			Sushi 2.		A8K465|Q3B774|Q9UJ17	Nonsense_Mutation	SNP	ENST00000320493.5	37	c.401G>A	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	15.23	2.770953	0.49680	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	.	.	.	3.14	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9454	0.41604	0.0:0.0:1.0:0.0	.	.	.	.	X	134	.	ENSP00000314299:W134X	W	+	2	0	CFHR1	195062729	1.000000	0.71417	0.883000	0.34634	0.046000	0.14306	3.250000	0.51445	1.771000	0.52183	0.184000	0.17185	TGG		0.388	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		28	68	0	0	0	0	28	68				
ZBTB41	360023	broad.mit.edu	37	1	197160945	197160945	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197160945G>C	ENST00000367405.4	-	2	1273	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	402					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(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGTTAGGTTAGACTTTGTTGA	0.383																																						uc001gtx.1		NA																	0				ovary(1)|skin(1)	2						c.(1204-1206)TCT>TGT		zinc finger and BTB domain containing 41							100.0	90.0	94.0					1																	197160945		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197160945G>C		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1205C>G	1.37:g.197160945G>C	ENSP00000356375:p.Ser402Cys					ZBTB41_uc009wyz.1_RNA	p.S402C	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			2	1274	-			402			C2H2-type 3.		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.1205C>G	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404204	0.83230	.	.	ENSG00000177888	ENST00000367405	T	0.02085	4.46	5.89	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.346876	0.20336	U	0.094336	T	0.13457	0.0326	M	0.84433	2.695	0.58432	D	0.999999	D	0.71674	0.998	P	0.61397	0.888	T	0.00958	-1.1500	10	0.72032	D	0.01	.	16.4705	0.84111	0.0:0.0:0.8678:0.1322	.	402	Q5SVQ8	ZBT41_HUMAN	C	402	ENSP00000356375:S402C	ENSP00000356375:S402C	S	-	2	0	ZBTB41	195427568	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.522000	0.81844	1.474000	0.48178	0.650000	0.86243	TCT		0.383	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		5	27	0	0	0	0	5	27				
CRB1	23418	broad.mit.edu	37	1	197297819	197297819	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197297819C>T	ENST00000367400.3	+	2	473	c.338C>T	c.(337-339)tCc>tTc	p.S113F	CRB1_ENST00000535699.1_Missense_Mutation_p.S44F|CRB1_ENST00000538660.1_Missense_Mutation_p.S113F|CRB1_ENST00000367399.2_Missense_Mutation_p.S113F	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	113	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACCATTGGTTCCTGTGGCAAG	0.498																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(337-339)TCC>TTC		crumbs homolog 1 precursor							100.0	87.0	91.0					1																	197297819		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197297819C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.338C>T	1.37:g.197297819C>T	ENSP00000356370:p.Ser113Phe					CRB1_uc010poz.1_Missense_Mutation_p.S44F|CRB1_uc001gty.1_Missense_Mutation_p.S113F|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.S113F|CRB1_uc010ppb.1_Missense_Mutation_p.S113F	p.S113F	NM_201253	NP_957705	P82279	CRUM1_HUMAN			2	473	+			113			Extracellular (Potential).|EGF-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.338C>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081206	0.20309	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	T;D;D;D	0.92048	3.1;-2.53;-2.04;-2.96	5.46	2.5	0.30297	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.85885	0.5801	N	0.25245	0.725	0.29836	N	0.829596	B;B;P;B;B	0.48503	0.007;0.001;0.911;0.001;0.003	B;B;P;B;B	0.46825	0.001;0.004;0.528;0.004;0.003	T	0.80254	-0.1459	9	0.59425	D	0.04	.	2.8463	0.05545	0.3567:0.3954:0.1155:0.1324	.	113;44;113;113;138	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	F	44;113;113;113	ENSP00000438786:S44F;ENSP00000438091:S113F;ENSP00000356370:S113F;ENSP00000356369:S113F	ENSP00000356369:S113F	S	+	2	0	CRB1	195564442	0.000000	0.05858	0.342000	0.25602	0.022000	0.10575	-0.183000	0.09712	0.327000	0.23409	0.655000	0.94253	TCC		0.498	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		17	28	0	0	0	0	17	28				
CRB1	23418	broad.mit.edu	37	1	197404489	197404490	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197404489_197404490CC>GT	ENST00000367400.3	+	9	3631_3632	c.3496_3497CC>GT	c.(3496-3498)CCc>GTc	p.P1166V	CRB1_ENST00000544212.1_Missense_Mutation_p.P647V|CRB1_ENST00000535699.1_Missense_Mutation_p.P1142V|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.P1054V|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367397.1_Missense_Mutation_p.P547V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1166	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGCTCCTGTCCCTTGGGATGG	0.475																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(3496-3498)CCC>GTC		crumbs homolog 1 precursor																																				SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404489_197404490CC>GT		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	Exception_encountered	1.37:g.197404489_197404490delinsGT	ENSP00000356370:p.Pro1166Val					CRB1_uc010poz.1_Missense_Mutation_p.P1142V|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.P1054V|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.P647V|CRB1_uc001gub.1_Missense_Mutation_p.P815V	p.P1166V	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3631_3632	+			1166			Extracellular (Potential).|EGF-like 15.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	DNP	ENST00000367400.3	37	c.3496_3497CC>GT	CCDS1390.1																																																																																				0.475	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		20	40	0	0	0	0	20	40				
PTPRC	5788	broad.mit.edu	37	1	198671529	198671529	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:198671529G>A	ENST00000367376.2	+	6	618	c.447G>A	c.(445-447)gaG>gaA	p.E149E	PTPRC_ENST00000442510.2_Silent_p.E151E|PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	149					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCCCAGGAGAGAGGAGTACAG	0.522																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(445-447)GAG>GAA		protein tyrosine phosphatase, receptor type, C							340.0	265.0	290.0					1																	198671529		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198671529G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.447G>A	1.37:g.198671529G>A						PTPRC_uc001gus.1_Intron|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc010ppg.1_Silent_p.E85E|PTPRC_uc001guu.1_Silent_p.E192E|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_Intron	p.E149E	NM_002838	NP_002829	P08575	PTPRC_HUMAN			6	627	+			149			Extracellular (Potential).		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.447G>A																																																																																					0.522	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				24	114	0	0	0	0	24	114				
IPO9	55705	broad.mit.edu	37	1	201821287	201821288	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:201821287_201821288CC>TT	ENST00000361565.4	+	5	639_640	c.570_571CC>TT	c.(568-573)ctCCca>ctTTca	p.P191S	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	191					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTGTCATTCTCCCAGAGATGTA	0.421																																						uc001gwz.2		NA																	0				ovary(2)	2						c.(568-573)CTCCCA>CTTTCA		importin 9																																				SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201821287_201821288CC>TT	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	Exception_encountered	1.37:g.201821287_201821288delinsTT	ENSP00000354742:p.Pro191Ser						p.P191S	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			5	620_621	+			191					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	DNP	ENST00000361565.4	37	c.570_571CC>TT	CCDS1415.1																																																																																				0.421	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		10	43	0	0	0	0	10	43				
LGR6	59352	broad.mit.edu	37	1	202245593	202245594	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:202245593_202245594CC>TT	ENST00000367278.3	+	5	677_678	c.588_589CC>TT	c.(586-591)aaCCgc>aaTTgc	p.R197C	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.R145C	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	197					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGCCCTCAACCGCATCAGCCA	0.639																																						uc001gxu.2		NA																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(586-591)AACCGC>AATTGC		leucine-rich repeat-containing G protein-coupled																																				SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202245593_202245594CC>TT	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	Exception_encountered	1.37:g.202245593_202245594delinsTT	ENSP00000356247:p.Arg197Cys					LGR6_uc001gxv.2_Missense_Mutation_p.R145C|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA	p.R197C	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			5	588_589	+			197			LRR 5.|Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	DNP	ENST00000367278.3	37	c.588_589CC>TT	CCDS30971.1																																																																																				0.639	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		6	23	0	0	0	0	6	23				
PPFIA4	8497	broad.mit.edu	37	1	203024700	203024701	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:203024700_203024701CC>TT	ENST00000447715.2	+	21	2345_2346	c.1904_1905CC>TT	c.(1903-1905)tCC>tTT	p.S635F	PPFIA4_ENST00000272198.6_Missense_Mutation_p.S151F|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S151F|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S151F|PPFIA4_ENST00000367240.2_Missense_Mutation_p.S636F|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S364F			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	635					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACGGCCCTGTCCCTGGCCAGCG	0.644																																						uc001gyz.2		NA																	0				ovary(4)|skin(1)	5						c.(451-453)TCC>TTT		protein tyrosine phosphatase, receptor type, f																																				SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203024700_203024701CC>TT	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	Exception_encountered	1.37:g.203024700_203024701delinsTT	ENSP00000402576:p.Ser635Phe					PPFIA4_uc009xaj.2_Missense_Mutation_p.S782F|PPFIA4_uc010pqf.1_Missense_Mutation_p.S364F|PPFIA4_uc001gza.2_Missense_Mutation_p.S151F|PPFIA4_uc001gzb.1_5'Flank	p.S151F	NM_015053	NP_055868	O75335	LIPA4_HUMAN			3	1045_1046	+			151					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	DNP	ENST00000447715.2	37	c.452_453CC>TT																																																																																					0.644	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		3	40	0	0	0	0	3	40				
CHI3L1	1116	broad.mit.edu	37	1	203149598	203149598	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:203149598C>T	ENST00000255409.3	-	8	1019	c.894G>A	c.(892-894)gaG>gaA	p.E298E		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	298					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						ACTCCATTACCTCATAGTAGG	0.552																																						uc001gzi.2		NA																	0				pancreas(1)	1						c.(892-894)GAG>GAA		chitinase 3-like 1 precursor							66.0	66.0	66.0					1																	203149598		2203	4300	6503	SO:0001630	splice_region_variant	1116				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding	g.chr1:203149598C>T	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.894+1G>A	1.37:g.203149598C>T						FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Intron|CHI3L1_uc001gzj.2_Intron|CHI3L1_uc001gzl.3_5'Flank	p.E298E	NM_001276	NP_001267	P36222	CH3L1_HUMAN			8	1065	-			298					B2R7B0|P30923|Q8IVA4|Q96HI7	Silent	SNP	ENST00000255409.3	37	c.894G>A	CCDS1435.1																																																																																				0.552	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276	Silent	10	37	0	0	0	0	10	37				
REN	5972	broad.mit.edu	37	1	204124207	204124207	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:204124207G>A	ENST00000272190.8	-	10	1186	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	ETNK2_ENST00000367199.2_5'Flank|REN_ENST00000367195.2_Silent_p.I383I	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	386					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGAACTTTCGGATGAAGGTGG	0.607																																						uc001haq.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(1156-1158)ATC>ATT		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						82.0	76.0	78.0					1																	204124207		2203	4300	6503	SO:0001819	synonymous_variant	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204124207G>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.1158C>T	1.37:g.204124207G>A						ETNK2_uc001hao.3_5'Flank|ETNK2_uc001han.3_5'Flank|ETNK2_uc010pqs.1_5'Flank|ETNK2_uc010pqt.1_5'Flank	p.I386I	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		10	1202	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		386					Q6FI38|Q6T5C2	Silent	SNP	ENST00000272190.8	37	c.1158C>T	CCDS30981.1																																																																																				0.607	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		10	43	0	0	0	0	10	43				
MDM4	4194	broad.mit.edu	37	1	204518442	204518442	+	Missense_Mutation	SNP	C	C	T	rs140091735		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:204518442C>T	ENST00000367182.3	+	11	1267	c.1105C>T	c.(1105-1107)Cct>Tct	p.P369S	MDM4_ENST00000454264.2_Missense_Mutation_p.P319S|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000367183.3_Missense_Mutation_p.P43S|MDM4_ENST00000391947.2_3'UTR	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	369					cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CATTTCGGCTCCTGTCGTTAG	0.408			A		"""GBM, bladder, retinoblastoma"""																																	uc001hba.2		NA		Dom	yes		1	1q32	4194	A	Mdm4 p53 binding protein homolog			M			GBM|bladder|retinoblastoma		0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1105-1107)CCT>TCT		mouse double minute 4 homolog							135.0	134.0	134.0					1																	204518442		2203	4300	6503	SO:0001583	missense	4194				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	g.chr1:204518442C>T	AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.1105C>T	1.37:g.204518442C>T	ENSP00000356150:p.Pro369Ser					MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Missense_Mutation_p.P242S|MDM4_uc001hay.1_Missense_Mutation_p.P319S|MDM4_uc001hbb.2_Missense_Mutation_p.P242S|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA	p.P369S	NM_002393	NP_002384	O15151	MDM4_HUMAN	GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)		11	1267	+	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		369					Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Missense_Mutation	SNP	ENST00000367182.3	37	c.1105C>T	CCDS1447.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920200	0.92249	.	.	ENSG00000198625	ENST00000367182;ENST00000454264;ENST00000367183;ENST00000444261	T;T;T;T	0.62232	3.1;3.1;0.76;0.04	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.77785	0.4182	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76282	-0.3016	10	0.62326	D	0.03	-14.0321	20.4745	0.99168	0.0:1.0:0.0:0.0	.	369;319	O15151;Q2M2Y2	MDM4_HUMAN;.	S	369;319;43;147	ENSP00000356150:P369S;ENSP00000396840:P319S;ENSP00000356151:P43S;ENSP00000395254:P147S	ENSP00000356150:P369S	P	+	1	0	MDM4	202785065	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	CCT		0.408	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	NM_002393		55	89	0	0	0	0	55	89				
CNTN2	6900	broad.mit.edu	37	1	205042324	205042324	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:205042324G>A	ENST00000331830.4	+	22	3257	c.2973G>A	c.(2971-2973)ggG>ggA	p.G991G		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	991	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGCCCGGAGGGGATGGGATCC	0.577																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NA																	0				ovary(1)	1						c.(2971-2973)GGG>GGA		contactin 2 precursor							72.0	71.0	71.0					1																	205042324		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205042324G>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2973G>A	1.37:g.205042324G>A						CNTN2_uc001hbs.2_Silent_p.G779G	p.G991G	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		22	3242	+	all_cancers(21;0.144)|Breast(84;0.0437)		991			Fibronectin type-III 4.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.2973G>A	CCDS1449.1																																																																																				0.577	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		14	53	0	0	0	0	14	53				
KLHDC8A	55220	broad.mit.edu	37	1	205306655	205306655	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:205306655G>A	ENST00000367156.3	-	9	1741	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	KLHDC8A_ENST00000537168.1_Missense_Mutation_p.L196F|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.L309F|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.L175F|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.L309F	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	309										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATGGCAGGGAGGATCTCCCAT	0.572																																						uc001hcf.1		NA																	0				ovary(1)	1						c.(925-927)CTC>TTC		kelch domain containing 8A							203.0	213.0	210.0					1																	205306655		2203	4300	6503	SO:0001583	missense	55220							g.chr1:205306655G>A		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.925C>T	1.37:g.205306655G>A	ENSP00000356124:p.Leu309Phe					KLHDC8A_uc010prg.1_Missense_Mutation_p.L196F|KLHDC8A_uc001hcg.1_Missense_Mutation_p.L309F	p.L309F	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		6	1493	-	Breast(84;0.23)		309			Kelch 7.		B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.925C>T	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347442	0.82022	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.61	5.61	0.85477	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	M	0.84683	2.71	0.49798	D	0.99982	D;D	0.76494	0.999;0.983	D;P	0.87578	0.998;0.836	D	0.85709	0.1318	10	0.44086	T	0.13	-30.2024	10.2059	0.43112	0.1492:0.0:0.8508:0.0	.	196;309	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	F	309;309;309;196	ENSP00000356123:L309F;ENSP00000356124:L309F;ENSP00000442229:L309F;ENSP00000443447:L196F	ENSP00000356123:L309F	L	-	1	0	KLHDC8A	203573278	1.000000	0.71417	0.946000	0.38457	0.968000	0.65278	4.306000	0.59117	2.641000	0.89580	0.591000	0.81541	CTC		0.572	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		30	121	0	0	0	0	30	121				
SLC26A9	115019	broad.mit.edu	37	1	205904874	205904874	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:205904874C>T	ENST00000367135.3	-	2	188	c.75G>A	c.(73-75)gaG>gaA	p.E25E	SLC26A9_ENST00000367134.2_Silent_p.E25E|SLC26A9_ENST00000340781.4_Silent_p.E25E|RP4-681L3.2_ENST00000421166.1_RNA	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	25					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGTCCTTCTTCTCAAACTCAT	0.542																																						uc001hdq.2		NA																	0				ovary(1)|skin(1)	2						c.(73-75)GAG>GAA		solute carrier family 26, member 9 isoform a							212.0	187.0	196.0					1																	205904874		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205904874C>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.75G>A	1.37:g.205904874C>T						SLC26A9_uc001hdp.2_Silent_p.E25E	p.E25E	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		2	189	-	Breast(84;0.201)		25					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.75G>A	CCDS30990.1																																																																																				0.542	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		28	115	0	0	0	0	28	115				
CTSE	1510	broad.mit.edu	37	1	206317632	206317632	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:206317632G>A	ENST00000358184.2	+	1	174	c.56G>A	c.(55-57)gGa>gAa	p.G19E	CTSE_ENST00000360218.2_Missense_Mutation_p.G19E|CTSE_ENST00000432969.2_5'UTR|CTSE_ENST00000361052.3_Missense_Mutation_p.G19E	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	19					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GAGGCCCAAGGATCCCTTCAC	0.582																																						uc001hdu.2		NA																	0				ovary(1)	1						c.(55-57)GGA>GAA		cathepsin E isoform a preproprotein							136.0	117.0	123.0					1																	206317632		2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206317632G>A	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.56G>A	1.37:g.206317632G>A	ENSP00000350911:p.Gly19Glu					CTSE_uc001hdv.2_Missense_Mutation_p.G19E|CTSE_uc010prs.1_5'UTR	p.G19E	NM_001910	NP_001901	P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		1	174	+			19					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	c.56G>A	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	G	1.120	-0.655494	0.03480	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218	T;T;T	0.58358	0.34;0.34;0.65	4.79	2.91	0.33838	.	1.968160	0.02050	N	0.049976	T	0.48429	0.1499	L	0.51914	1.62	0.19575	N	0.999962	P;P	0.44429	0.835;0.665	P;B	0.44477	0.451;0.261	T	0.40979	-0.9534	10	0.02654	T	1	.	6.4553	0.21926	0.0983:0.1837:0.7179:0.0	.	19;19	P14091-2;P14091-1	.;.	E	19	ENSP00000350911:G19E;ENSP00000354337:G19E;ENSP00000353350:G19E	ENSP00000350911:G19E	G	+	2	0	CTSE	204484255	0.024000	0.19004	0.010000	0.14722	0.943000	0.58893	1.765000	0.38481	0.611000	0.30052	0.650000	0.86243	GGA		0.582	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		20	49	0	0	0	0	20	49				
DYRK3	8444	broad.mit.edu	37	1	206821332	206821332	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:206821332G>A	ENST00000367109.2	+	3	957	c.789G>A	c.(787-789)caG>caA	p.Q263Q	DYRK3_ENST00000367106.1_Silent_p.Q243Q|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Silent_p.Q243Q	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTAAGAAACAGGATAAAACTG	0.443																																					Melanoma(164;427 2622 26826 51707)	uc001hej.2		NA																	0				stomach(2)|central_nervous_system(1)	3						c.(787-789)CAG>CAA		dual-specificity tyrosine-(Y)-phosphorylation							120.0	117.0	118.0					1																	206821332		2203	4300	6503	SO:0001819	synonymous_variant	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821332G>A	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.789G>A	1.37:g.206821332G>A						DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Silent_p.Q243Q	p.Q263Q	NM_003582	NP_003573	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	957	+	Breast(84;0.183)		263			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Silent	SNP	ENST00000367109.2	37	c.789G>A	CCDS30999.1																																																																																				0.443	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		24	110	0	0	0	0	24	110				
CR2	1380	broad.mit.edu	37	1	207640107	207640107	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:207640107G>A	ENST00000367058.3	+	2	484	c.295G>A	c.(295-297)Gga>Aga	p.G99R	CR2_ENST00000367057.3_Missense_Mutation_p.G99R|CR2_ENST00000458541.2_Missense_Mutation_p.G99R|CR2_ENST00000367059.3_Missense_Mutation_p.G99R	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	99	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.G99*(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTACCAGGAGGATACAAAAT	0.408																																						uc001hfw.2		NA																	1	Substitution - Nonsense(1)	p.G99*(1)	ovary(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(295-297)GGA>AGA		complement component (3d/Epstein Barr virus)							96.0	94.0	95.0					1																	207640107		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207640107G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.295G>A	1.37:g.207640107G>A	ENSP00000356025:p.Gly99Arg					CR2_uc001hfv.2_Missense_Mutation_p.G99R|CR2_uc009xch.2_Missense_Mutation_p.G99R	p.G99R	NM_001877	NP_001868	P20023	CR2_HUMAN			2	389	+			99			Sushi 2.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.295G>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458973	0.63401	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.0	4.01	0.46588	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.82287	0.5004	M	0.91140	3.18	0.30549	N	0.765697	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77864	-0.2429	9	0.37606	T	0.19	.	7.4734	0.27361	0.117:0.0:0.883:0.0	.	99;99;99	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	R	99	ENSP00000356025:G99R;ENSP00000356024:G99R;ENSP00000356026:G99R;ENSP00000404222:G99R	ENSP00000356024:G99R	G	+	1	0	CR2	205706730	0.570000	0.26651	0.867000	0.34043	0.013000	0.08279	2.467000	0.45093	2.607000	0.88179	0.655000	0.94253	GGA		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		27	35	0	0	0	0	27	35				
TRAF3IP3	80342	broad.mit.edu	37	1	209936417	209936418	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:209936417_209936418GG>AA	ENST00000367024.1	+	6	1072_1073	c.556_557GG>AA	c.(556-558)GGa>AAa	p.G186K	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.G186K|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.G166K|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.G166K|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.G166K			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	186						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TTCCAGTTACGGAGTTGCAGTT	0.406																																						uc001hho.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(556-558)GGA>AAA		TRAF3-interacting JNK-activating modulator																																				SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209936417_209936418GG>AA		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	Exception_encountered	1.37:g.209936417_209936418delinsAA	ENSP00000355991:p.Gly186Lys					TRAF3IP3_uc001hhl.2_Missense_Mutation_p.G166K|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.G186K|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.G166K|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.G186K	p.G186K	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	6	846_847	+			186			Cytoplasmic (Potential).		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	DNP	ENST00000367024.1	37	c.556_557GG>AA	CCDS1490.2																																																																																				0.406	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			5	46	0	0	0	0	5	46				
C1orf74	148304	broad.mit.edu	37	1	209956454	209956455	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:209956454_209956455GG>AA	ENST00000294811.1	-	2	781_782	c.525_526CC>TT	c.(523-528)atCCtc>atTTtc	p.L176F		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	176										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		TAGCCCAGGAGGATCCCAAATA	0.505																																						uc001hhp.1		NA																	0				skin(1)	1						c.(523-528)ATCCTC>ATTTTC		hypothetical protein LOC148304																																				SO:0001583	missense	148304							g.chr1:209956454_209956455GG>AA	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.525_526delinsAA	1.37:g.209956454_209956455delinsAA	ENSP00000294811:p.Leu176Phe						p.L176F	NM_152485	NP_689698	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	768_769	-			176						Missense_Mutation	DNP	ENST00000294811.1	37	c.525_526CC>TT	CCDS1491.1																																																																																				0.505	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		44	58	0	0	0	0	44	58				
RPS6KC1	26750	broad.mit.edu	37	1	213414910	213414910	+	Silent	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:213414910T>G	ENST00000366960.3	+	11	2241	c.2091T>G	c.(2089-2091)ggT>ggG	p.G697G	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.G485G|RPS6KC1_ENST00000543354.1_Silent_p.G400G|RPS6KC1_ENST00000366959.3_Silent_p.G685G	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	697					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATTTACCTGGTGAATTGGAGT	0.388																																						uc010ptr.1		NA																	0				lung(4)|ovary(3)|breast(1)	8						c.(2089-2091)GGT>GGG		ribosomal protein S6 kinase, 52kDa, polypeptide							80.0	84.0	83.0					1																	213414910		2203	4300	6503	SO:0001819	synonymous_variant	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414910T>G	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2091T>G	1.37:g.213414910T>G						RPS6KC1_uc001hkd.2_Silent_p.G685G|RPS6KC1_uc010pts.1_Silent_p.G485G|RPS6KC1_uc010ptt.1_Silent_p.G485G|RPS6KC1_uc010ptu.1_Silent_p.G516G|RPS6KC1_uc010ptv.1_Silent_p.G232G|RPS6KC1_uc001hke.2_Silent_p.G516G	p.G697G	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2250	+			697					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	ENST00000366960.3	37	c.2091T>G	CCDS1513.1																																																																																				0.388	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		18	67	0	0	0	0	18	67				
PROX1	5629	broad.mit.edu	37	1	214171352	214171352	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:214171352C>T	ENST00000366958.4	+	2	2082	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	PROX1_ENST00000435016.1_Missense_Mutation_p.P492S|PROX1_ENST00000261454.4_Missense_Mutation_p.P492S|PROX1_ENST00000498508.2_Missense_Mutation_p.P492S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	492					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGGCCTATCCATTTCAGAG	0.592																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1474-1476)CCA>TCA		prospero homeobox 1							78.0	89.0	85.0					1																	214171352		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171352C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1474C>T	1.37:g.214171352C>T	ENSP00000355925:p.Pro492Ser					PROX1_uc001hkg.1_Missense_Mutation_p.P492S	p.P492S	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1746	+			492					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1474C>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963842	0.53507	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.50548	0.78;0.74;0.78;0.78	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51988	-0.8635	10	0.07030	T	0.85	-2.4481	19.8546	0.96752	0.0:1.0:0.0:0.0	.	492	Q92786	PROX1_HUMAN	S	64;492;492;492;492	ENSP00000420283:P492S;ENSP00000355925:P492S;ENSP00000400694:P492S;ENSP00000261454:P492S	ENSP00000261454:P492S	P	+	1	0	PROX1	212237975	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.971000	0.70440	2.697000	0.92050	0.655000	0.94253	CCA		0.592	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		16	70	0	0	0	0	16	70				
PTPN14	5784	broad.mit.edu	37	1	214625317	214625317	+	Splice_Site	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:214625317T>G	ENST00000366956.5	-	3	369	c.175A>C	c.(175-177)Acg>Ccg	p.T59P	PTPN14_ENST00000543945.1_Splice_Site_p.T59P	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	59	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AAGTAGTGCGTCTAGATAAAA	0.488																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	0				breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(175-177)ACG>CCG		protein tyrosine phosphatase, non-receptor type							85.0	83.0	84.0					1																	214625317		2203	4300	6503	SO:0001630	splice_region_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214625317T>G	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.175-1A>C	1.37:g.214625317T>G						PTPN14_uc010pty.1_5'UTR	p.T59P	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	3	446	-			59			FERM.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.175A>C	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.082199	0.55861	.	.	ENSG00000152104	ENST00000366956;ENST00000543945	T;T	0.77877	-1.13;-1.13	5.55	5.55	0.83447	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.78729	0.4329	N	0.16233	0.39	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	T	0.78471	-0.2191	10	0.31617	T	0.26	.	15.6958	0.77494	0.0:0.0:0.0:1.0	.	59	Q15678	PTN14_HUMAN	P	59	ENSP00000355923:T59P;ENSP00000443330:T59P	ENSP00000355923:T59P	T	-	1	0	PTPN14	212691940	1.000000	0.71417	0.995000	0.50966	0.731000	0.41821	7.136000	0.77285	2.120000	0.65058	0.454000	0.30748	ACG		0.488	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401	Missense_Mutation	16	49	0	0	0	0	16	49				
USH2A	7399	broad.mit.edu	37	1	215808040	215808040	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:215808040C>T	ENST00000307340.3	-	70	15444	c.15058G>A	c.(15058-15060)Gtc>Atc	p.V5020I	USH2A_ENST00000366943.2_Missense_Mutation_p.V5020I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5020					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTGTTAGGACCAAGCCTGCA	0.443										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(15058-15060)GTC>ATC		usherin isoform B							92.0	90.0	91.0					1																	215808040		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215808040C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15058G>A	1.37:g.215808040C>T	ENSP00000305941:p.Val5020Ile	HNSCC(13;0.011)					p.V5020I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	70	15445	-			5020			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.15058G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	9.439	1.087517	0.20390	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13196	2.61;2.61	5.82	5.82	0.92795	.	0.438457	0.16487	N	0.212278	T	0.14700	0.0355	L	0.55103	1.725	0.25110	N	0.990727	B	0.17852	0.024	B	0.10450	0.005	T	0.10314	-1.0635	10	0.26408	T	0.33	.	11.0758	0.48030	0.0:0.8888:0.0:0.1112	.	5020	O75445	USH2A_HUMAN	I	5020	ENSP00000305941:V5020I;ENSP00000355910:V5020I	ENSP00000305941:V5020I	V	-	1	0	USH2A	213874663	1.000000	0.71417	0.999000	0.59377	0.019000	0.09904	2.424000	0.44714	2.760000	0.94817	0.655000	0.94253	GTC		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	73	0	0	0	0	10	73				
USH2A	7399	broad.mit.edu	37	1	216380737	216380737	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:216380737T>C	ENST00000307340.3	-	16	3580	c.3194A>G	c.(3193-3195)cAa>cGa	p.Q1065R	USH2A_ENST00000366942.3_Missense_Mutation_p.Q1065R|USH2A_ENST00000366943.2_Missense_Mutation_p.Q1065R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1065	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAAGAACTTTGAACTTGTCC	0.413										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(3193-3195)CAA>CGA		usherin isoform B							143.0	143.0	143.0					1																	216380737		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216380737T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3194A>G	1.37:g.216380737T>C	ENSP00000305941:p.Gln1065Arg	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.Q1065R	p.Q1065R	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	16	3581	-			1065			Extracellular (Potential).|Fibronectin type-III 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3194A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.546147	0.27652	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;T;T	0.84370	-1.84;0.66;0.44	6.07	4.89	0.63831	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.222920	0.24003	N	0.042452	T	0.81941	0.4929	M	0.68317	2.08	0.28234	N	0.925998	P;P	0.48764	0.799;0.915	B;B	0.42062	0.297;0.374	T	0.77091	-0.2716	10	0.32370	T	0.25	.	9.3915	0.38376	0.3059:0.0:0.0:0.6941	.	1065;1065	O75445-2;O75445	.;USH2A_HUMAN	R	1065	ENSP00000305941:Q1065R;ENSP00000355910:Q1065R;ENSP00000355909:Q1065R	ENSP00000305941:Q1065R	Q	-	2	0	USH2A	214447360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.688000	0.68227	2.326000	0.78906	0.533000	0.62120	CAA		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		14	67	0	0	0	0	14	67				
ESRRG	2104	broad.mit.edu	37	1	216680458	216680458	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:216680458C>T	ENST00000408911.3	-	7	1353	c.1200G>A	c.(1198-1200)caG>caA	p.Q400Q	ESRRG_ENST00000493748.1_Silent_p.Q377Q|ESRRG_ENST00000391890.3_Silent_p.Q384Q|ESRRG_ENST00000366940.2_Silent_p.Q377Q|ESRRG_ENST00000361525.3_Silent_p.Q377Q|ESRRG_ENST00000361395.2_Silent_p.Q377Q|ESRRG_ENST00000487276.1_Silent_p.Q377Q|ESRRG_ENST00000366937.1_Silent_p.Q412Q|ESRRG_ENST00000493603.1_Silent_p.Q377Q|ESRRG_ENST00000366938.2_Silent_p.Q377Q|ESRRG_ENST00000359162.2_Silent_p.Q377Q|ESRRG_ENST00000463665.1_Silent_p.Q338Q|ESRRG_ENST00000360012.3_Silent_p.Q377Q	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	400					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATAATCCTGCAGCGCTT	0.498																																						uc001hkw.1		NA																	0				ovary(1)|kidney(1)	2						c.(1198-1200)CAG>CAA		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						111.0	99.0	103.0					1																	216680458		2203	4300	6503	SO:0001819	synonymous_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216680458C>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.1200G>A	1.37:g.216680458C>T						ESRRG_uc001hky.1_Silent_p.Q377Q|ESRRG_uc009xdp.1_Silent_p.Q377Q|ESRRG_uc001hkz.1_Silent_p.Q338Q|ESRRG_uc010puc.1_Silent_p.Q377Q|ESRRG_uc001hla.1_Silent_p.Q377Q|ESRRG_uc001hlb.1_Silent_p.Q377Q|ESRRG_uc010pud.1_Silent_p.Q208Q|ESRRG_uc001hlc.1_Silent_p.Q377Q|ESRRG_uc001hld.1_Silent_p.Q377Q|ESRRG_uc001hkx.1_Silent_p.Q412Q|ESRRG_uc009xdo.1_Silent_p.Q377Q	p.Q400Q	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	7	1366	-			400					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	c.1200G>A	CCDS41468.1																																																																																				0.498	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		14	51	0	0	0	0	14	51				
MARK1	4139	broad.mit.edu	37	1	220791840	220791840	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:220791840C>T	ENST00000366917.4	+	8	1007	c.741C>T	c.(739-741)ctC>ctT	p.L247L	MARK1_ENST00000402574.1_Silent_p.L112L|MARK1_ENST00000366918.4_Silent_p.L225L					MAP/microtubule affinity-regulating kinase 1									p.L247L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GCGTCATTCTCTATACATTAG	0.428																																						uc001hmn.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(739-741)CTC>CTT		MAP/microtubule affinity-regulating kinase 1							89.0	92.0	91.0					1																	220791840		2203	4300	6503	SO:0001819	synonymous_variant	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220791840C>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.741C>T	1.37:g.220791840C>T						MARK1_uc009xdw.2_Silent_p.L247L|MARK1_uc010pun.1_Silent_p.L247L|MARK1_uc001hmm.3_Silent_p.L225L	p.L247L	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	8	1338	+			247			Protein kinase.			Silent	SNP	ENST00000366917.4	37	c.741C>T	CCDS31029.2																																																																																				0.428	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			14	65	0	0	0	0	14	65				
DUSP10	11221	broad.mit.edu	37	1	221879775	221879775	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:221879775T>C	ENST00000366899.3	-	3	1083	c.845A>G	c.(844-846)aAc>aGc	p.N282S	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	282	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTCACAGAGGTTTTCATGGTT	0.572																																						uc001hmy.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(844-846)AAC>AGC		dual specificity phosphatase 10 isoform a							47.0	56.0	53.0					1																	221879775		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221879775T>C	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.845A>G	1.37:g.221879775T>C	ENSP00000355866:p.Asn282Ser					DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	p.N282S	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	3	1027	-			282			Rhodanese.		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.845A>G	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.203525	0.38905	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.41400	1.0	5.44	5.44	0.79542	Rhodanese-like (4);	0.047410	0.85682	D	0.000000	T	0.20373	0.0490	N	0.04508	-0.205	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.11036	-1.0604	10	0.23891	T	0.37	.	10.1943	0.43045	0.0:0.0746:0.0:0.9254	.	282	Q9Y6W6	DUS10_HUMAN	S	282;227	ENSP00000355866:N282S	ENSP00000355866:N282S	N	-	2	0	DUSP10	219946398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.110000	0.64622	2.182000	0.69389	0.482000	0.46254	AAC		0.572	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		30	71	0	0	0	0	30	71				
HHIPL2	79802	broad.mit.edu	37	1	222717466	222717466	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:222717466G>A	ENST00000343410.6	-	2	445	c.387C>T	c.(385-387)ctC>ctT	p.L129L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	129					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGAGGCCCGGGAGATTCCGGA	0.577																																						uc001hnh.1		NA																	0				ovary(1)	1						c.(385-387)CTC>CTT		HHIP-like 2 precursor							87.0	99.0	95.0					1																	222717466		1954	4143	6097	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717466G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.387C>T	1.37:g.222717466G>A							p.L129L	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	445	-			129					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.387C>T	CCDS1530.2																																																																																				0.577	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		33	153	0	0	0	0	33	153				
ITPKB	3707	broad.mit.edu	37	1	226924822	226924822	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:226924822A>C	ENST00000272117.3	-	1	337	c.338T>G	c.(337-339)gTg>gGg	p.V113G	ITPKB_ENST00000429204.1_Missense_Mutation_p.V113G|ITPKB_ENST00000366784.1_Missense_Mutation_p.V113G			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	113					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGCTGCCACCACCTGCTGCCG	0.667																																					Colon(84;110 1851 5306 33547)	uc010pvo.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(337-339)GTG>GGG		1D-myo-inositol-trisphosphate 3-kinase B							21.0	25.0	23.0					1																	226924822		2164	4206	6370	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924822A>C	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.338T>G	1.37:g.226924822A>C	ENSP00000272117:p.Val113Gly					ITPKB_uc001hqh.2_Missense_Mutation_p.V113G	p.V113G	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	678	-		Prostate(94;0.0773)	113					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.338T>G	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.731893	0.30684	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.27720	1.68;1.68;1.65	3.86	1.42	0.22433	.	0.857574	0.09689	N	0.768595	T	0.16896	0.0406	N	0.24115	0.695	0.44825	D	0.997832	B	0.09022	0.002	B	0.04013	0.001	T	0.15263	-1.0443	10	0.22109	T	0.4	.	3.2581	0.06839	0.56:0.2128:0.2272:0.0	.	113	P27987	IP3KB_HUMAN	G	113	ENSP00000272117:V113G;ENSP00000411152:V113G;ENSP00000355748:V113G	ENSP00000272117:V113G	V	-	2	0	ITPKB	224991445	0.977000	0.34250	0.971000	0.41717	0.543000	0.35085	0.537000	0.23144	0.085000	0.17107	0.374000	0.22700	GTG		0.667	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		19	29	0	0	0	0	19	29				
WNT3A	89780	broad.mit.edu	37	1	228246955	228246955	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:228246955C>T	ENST00000284523.1	+	4	926	c.848C>T	c.(847-849)cCc>cTc	p.P283L	WNT3A_ENST00000366753.2_Missense_Mutation_p.P283L	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	283					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTCTGCGAGCCCAACCCTGAG	0.701																																						uc001hrq.1		NA																	0				ovary(1)	1						c.(847-849)CCC>CTC		wingless-type MMTV integration site family,							20.0	20.0	20.0					1																	228246955		2202	4298	6500	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228246955C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.848C>T	1.37:g.228246955C>T	ENSP00000284523:p.Pro283Leu					WNT3A_uc001hrp.1_Missense_Mutation_p.P283L	p.P283L	NM_033131	NP_149122	P56704	WNT3A_HUMAN			4	926	+		Prostate(94;0.0405)	283					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.848C>T	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759042	0.69763	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.75477	-0.94;-0.94	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	M	0.69248	2.105	0.80722	D	1	P;P	0.47253	0.831;0.892	P;P	0.50537	0.643;0.593	T	0.74962	-0.3485	10	0.13108	T	0.6	.	17.9461	0.89039	0.0:1.0:0.0:0.0	.	283;283	P56704;Q3SY79	WNT3A_HUMAN;.	L	283	ENSP00000284523:P283L;ENSP00000355715:P283L	ENSP00000284523:P283L	P	+	2	0	WNT3A	226313578	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.672000	0.83956	2.300000	0.77407	0.491000	0.48974	CCC		0.701	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		6	12	0	0	0	0	6	12				
IBA57	200205	broad.mit.edu	37	1	228362983	228362983	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:228362983C>T	ENST00000366711.3	+	3	842	c.840C>T	c.(838-840)ttC>ttT	p.F280F	IBA57_ENST00000546123.1_Silent_p.F87F|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	280					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGCGCCTCTTCCCTGTCCGGT	0.637																																						uc001hsl.3		NA																	0					0						c.(838-840)TTC>TTT		hypothetical protein LOC200205 precursor							68.0	63.0	65.0					1																	228362983		2203	4299	6502	SO:0001819	synonymous_variant	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362983C>T	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.840C>T	1.37:g.228362983C>T						C1orf69_uc010pvw.1_Silent_p.F87F	p.F280F	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN			3	929	+		Prostate(94;0.0405)	280						Silent	SNP	ENST00000366711.3	37	c.840C>T	CCDS31046.1																																																																																				0.637	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		10	56	0	0	0	0	10	56				
C1orf198	84886	broad.mit.edu	37	1	230979405	230979405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:230979405G>A	ENST00000366663.5	-	3	762	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	C1orf198_ENST00000523410.1_Nonsense_Mutation_p.Q78*|C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000470540.1_Nonsense_Mutation_p.Q170*	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	208						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTCAGCGACTGGAACTCGGCC	0.637																																						uc001hub.2		NA																	0					0						c.(622-624)CAG>TAG		hypothetical protein LOC84886 isoform 1							84.0	83.0	83.0					1																	230979405		2203	4300	6503	SO:0001587	stop_gained	84886							g.chr1:230979405G>A	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.622C>T	1.37:g.230979405G>A	ENSP00000355623:p.Gln208*					C1orf198_uc009xfh.1_Nonsense_Mutation_p.Q78*|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Nonsense_Mutation_p.Q170*	p.Q208*	NM_032800	NP_116189	Q9H425	CA198_HUMAN			3	666	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	208					A8K8R8|B3KTW1|G5EA08	Nonsense_Mutation	SNP	ENST00000366663.5	37	c.622C>T	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920526	0.92249	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410	.	.	.	4.61	4.61	0.57282	.	0.153174	0.44902	D	0.000410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-17.3146	11.9747	0.53085	0.0843:0.0:0.9157:0.0	.	.	.	.	X	208;170;78	.	ENSP00000355623:Q208X	Q	-	1	0	C1orf198	229046028	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.609000	0.82925	2.100000	0.63781	0.462000	0.41574	CAG		0.637	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		18	75	0	0	0	0	18	75				
SIPA1L2	57568	broad.mit.edu	37	1	232649796	232649797	+	Missense_Mutation	DNP	GT	GT	TG			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:232649796_232649797GT>TG	ENST00000366630.1	-	2	1647_1648	c.1289_1290AC>CA	c.(1288-1290)aAC>aCA	p.N430T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.N430T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	430					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGAGGATGAGTTGGCTCGAGA	0.515																																						uc001hvg.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1288-1290)AAC>ACA		signal-induced proliferation-associated 1 like																																				SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649796_232649797GT>TG	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1289_1290delinsTG	1.37:g.232649796_232649797delinsTG	ENSP00000355589:p.Asn430Thr						p.N430T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			1	1447_1448	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	430					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	DNP	ENST00000366630.1	37	c.1289_1290AC>CA	CCDS41474.1																																																																																				0.515	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		30	139	0	0	0	0	30	139				
TARBP1	6894	broad.mit.edu	37	1	234584226	234584226	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:234584226C>T	ENST00000040877.1	-	11	1960	c.1961G>A	c.(1960-1962)aGc>aAc	p.S654N		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	654					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AAACAATTACCTATACTGAGT	0.373																																						uc001hwd.2		NA																	0				ovary(2)|skin(1)	3						c.(1960-1962)AGC>AAC		TAR RNA binding protein 1							83.0	81.0	82.0					1																	234584226		2203	4300	6503	SO:0001630	splice_region_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234584226C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1961+1G>A	1.37:g.234584226C>T							p.S654N	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		11	1961	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	654					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.1961G>A	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287314	0.23478	.	.	ENSG00000059588	ENST00000040877	T	0.38722	1.12	5.29	5.29	0.74685	.	0.525043	0.20964	N	0.082516	T	0.39572	0.1083	L	0.54323	1.7	0.35093	D	0.76454	P	0.38922	0.651	B	0.35859	0.212	T	0.52162	-0.8612	9	.	.	.	-7.0029	15.9552	0.79884	0.0:1.0:0.0:0.0	.	654	Q13395	TARB1_HUMAN	N	654	ENSP00000040877:S654N	.	S	-	2	0	TARBP1	232650849	1.000000	0.71417	0.960000	0.40013	0.027000	0.11550	4.241000	0.58707	2.751000	0.94390	0.655000	0.94253	AGC		0.373	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	Missense_Mutation	8	39	0	0	0	0	8	39				
B3GALNT2	148789	broad.mit.edu	37	1	235643460	235643460	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:235643460G>A	ENST00000366600.3	-	5	789	c.561C>T	c.(559-561)gcC>gcT	p.A187A	B3GALNT2_ENST00000313984.3_Silent_p.A228A|B3GALNT2_ENST00000494378.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	187					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CAATGAAGAGGGCCTCCTACA	0.423																																						uc001hxc.2		NA																	0				breast(1)	1						c.(559-561)GCC>GCT		beta-1,3-N-acetylgalactosaminyltransferase 2							84.0	77.0	79.0					1																	235643460		2203	4300	6503	SO:0001819	synonymous_variant	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235643460G>A	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.561C>T	1.37:g.235643460G>A						B3GALNT2_uc001hxd.1_Silent_p.A228A	p.A187A	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		5	790	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	187			Lumenal (Potential).		Q59GR3|Q5TCI3|Q96AL7	Silent	SNP	ENST00000366600.3	37	c.561C>T	CCDS1606.1																																																																																				0.423	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		12	46	0	0	0	0	12	46				
RYR2	6262	broad.mit.edu	37	1	237540664	237540664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237540664C>T	ENST00000366574.2	+	8	822	c.505C>T	c.(505-507)Cga>Tga	p.R169*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.R167*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R153*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	169					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCTAAGCAGCGATCAGAAGG	0.418																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(505-507)CGA>TGA		cardiac muscle ryanodine receptor							126.0	124.0	125.0					1																	237540664		1955	4139	6094	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237540664C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.505C>T	1.37:g.237540664C>T	ENSP00000355533:p.Arg169*						p.R169*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		8	625	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	169			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.505C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	37	6.086068	0.97271	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.17	2.09	0.27110	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2556	0.60076	0.4273:0.5727:0.0:0.0	.	.	.	.	X	169;167;153	.	ENSP00000353174:R167X	R	+	1	2	RYR2	235607287	0.999000	0.42202	0.992000	0.48379	0.997000	0.91878	0.753000	0.26376	0.217000	0.20800	0.557000	0.71058	CGA		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	35	0	0	0	0	4	35				
RYR2	6262	broad.mit.edu	37	1	237754053	237754053	+	Silent	SNP	G	G	A	rs201469656		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237754053G>A	ENST00000366574.2	+	31	4238	c.3921G>A	c.(3919-3921)ccG>ccA	p.P1307P	RYR2_ENST00000360064.6_Silent_p.P1305P|RYR2_ENST00000542537.1_Silent_p.P1291P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1307	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAGCATGCCGATCGAGTGCG	0.507																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3919-3921)CCG>CCA		cardiac muscle ryanodine receptor							199.0	188.0	191.0					1																	237754053		1953	4152	6105	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754053G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3921G>A	1.37:g.237754053G>A							p.P1307P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4041	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1307			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3921G>A	CCDS55691.1																																																																																				0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		42	143	0	0	0	0	42	143				
RYR2	6262	broad.mit.edu	37	1	237777850	237777850	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237777850G>A	ENST00000366574.2	+	37	5739	c.5422G>A	c.(5422-5424)Gac>Aac	p.D1808N	RYR2_ENST00000360064.6_Missense_Mutation_p.D1806N|RYR2_ENST00000542537.1_Missense_Mutation_p.D1792N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1808	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCATGCCCGGGACCCAGTTGG	0.478																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5422-5424)GAC>AAC		cardiac muscle ryanodine receptor							190.0	179.0	183.0					1																	237777850		1932	4138	6070	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777850G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5422G>A	1.37:g.237777850G>A	ENSP00000355533:p.Asp1808Asn						p.D1808N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5542	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1808			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5422G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211954	0.95069	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74209	-0.82;-0.82;-0.82	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000007	D	0.86843	0.6030	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87596	0.2494	10	0.87932	D	0	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	1808	Q92736	RYR2_HUMAN	N	1808;1806;1792	ENSP00000355533:D1808N;ENSP00000353174:D1806N;ENSP00000443798:D1792N	ENSP00000353174:D1806N	D	+	1	0	RYR2	235844473	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.813000	0.99286	2.665000	0.90641	0.650000	0.86243	GAC		0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		45	168	0	0	0	0	45	168				
RYR2	6262	broad.mit.edu	37	1	237804216	237804216	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237804216G>A	ENST00000366574.2	+	47	7452	c.7135G>A	c.(7135-7137)Gat>Aat	p.D2379N	RYR2_ENST00000360064.6_Missense_Mutation_p.D2377N|RYR2_ENST00000542537.1_Missense_Mutation_p.D2363N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2379	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAGGAGGAAGATGACACTAT	0.428																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7135-7137)GAT>AAT		cardiac muscle ryanodine receptor							160.0	153.0	155.0					1																	237804216		2048	4223	6271	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237804216G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7135G>A	1.37:g.237804216G>A	ENSP00000355533:p.Asp2379Asn						p.D2379N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		47	7255	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2379			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7135G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980604	0.92982	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98249	-4.82;-4.82;-4.82	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	D	0.96331	0.8803	L	0.39898	1.24	0.80722	D	1	P	0.36183	0.542	B	0.32864	0.154	D	0.96153	0.9109	10	0.87932	D	0	-17.7437	19.7383	0.96217	0.0:0.0:1.0:0.0	.	2379	Q92736	RYR2_HUMAN	N	2379;2377;2363	ENSP00000355533:D2379N;ENSP00000353174:D2377N;ENSP00000443798:D2363N	ENSP00000353174:D2377N	D	+	1	0	RYR2	235870839	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	9.672000	0.98629	2.735000	0.93741	0.591000	0.81541	GAT		0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	27	0	0	0	0	7	27				
RYR2	6262	broad.mit.edu	37	1	237837398	237837398	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237837398G>A	ENST00000366574.2	+	59	8910	c.8593G>A	c.(8593-8595)Gga>Aga	p.G2865R	RYR2_ENST00000360064.6_Missense_Mutation_p.G2863R|RYR2_ENST00000542537.1_Missense_Mutation_p.G2849R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2865	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTCTTAGGAGGAGGAAACCA	0.408																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8593-8595)GGA>AGA		cardiac muscle ryanodine receptor							108.0	103.0	104.0					1																	237837398		1928	4145	6073	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237837398G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8593G>A	1.37:g.237837398G>A	ENSP00000355533:p.Gly2865Arg					RYR2_uc010pxz.1_5'Flank	p.G2865R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		59	8713	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2865			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8593G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566391	0.65651	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91577	-2.87;-2.87;-2.87	5.32	5.32	0.75619	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000008	D	0.95573	0.8561	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95944	0.8949	10	0.87932	D	0	.	19.0098	0.92868	0.0:0.0:1.0:0.0	.	2865	Q92736	RYR2_HUMAN	R	2865;2863;2849	ENSP00000355533:G2865R;ENSP00000353174:G2863R;ENSP00000443798:G2849R	ENSP00000353174:G2863R	G	+	1	0	RYR2	235904021	1.000000	0.71417	0.996000	0.52242	0.076000	0.17211	9.748000	0.98867	2.483000	0.83821	0.557000	0.71058	GGA		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	83	0	0	0	0	16	83				
RYR2	6262	broad.mit.edu	37	1	237947405	237947405	+	Silent	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237947405C>G	ENST00000366574.2	+	90	12710	c.12393C>G	c.(12391-12393)ccC>ccG	p.P4131P	RYR2_ENST00000360064.6_Silent_p.P4137P|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.P4115P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4131					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTCCAGCCCTTTCTGGGCC	0.527																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12391-12393)CCC>CCG		cardiac muscle ryanodine receptor							67.0	66.0	66.0					1																	237947405		1916	4137	6053	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947405C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12393C>G	1.37:g.237947405C>G						RYR2_uc010pya.1_Silent_p.P546P	p.P4131P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12513	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4131					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12393C>G	CCDS55691.1																																																																																				0.527	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	50	0	0	0	0	11	50				
CEP170	9859	broad.mit.edu	37	1	243289829	243289829	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:243289829T>C	ENST00000366542.1	-	20	4728	c.4677A>G	c.(4675-4677)gaA>gaG	p.E1559E	CEP170_ENST00000366543.1_Silent_p.E1435E|CEP170_ENST00000366544.1_Silent_p.E1461E|CEP170_ENST00000481987.1_Silent_p.E295E|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000490813.1_Silent_p.E268E	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1559	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAGCCTCAGATTCAGCATTCT	0.458																																						uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(4675-4677)GAA>GAG		centrosomal protein 170kDa isoform alpha							27.0	24.0	25.0					1																	243289829		1849	4090	5939	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243289829T>C	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.4677A>G	1.37:g.243289829T>C						CEP170_uc001hzt.2_Silent_p.E1435E|CEP170_uc001hzu.2_Silent_p.E1461E|CEP170_uc001hzr.2_Silent_p.E148E|CEP170_uc001hzv.1_Intron	p.E1559E	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		20	5085	-	all_neural(11;0.101)	all_cancers(173;0.003)	1559			Targeting to microtubules.|Targeting to centrosomes.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.4677A>G	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	T	9.016	0.983578	0.18889	.	.	ENSG00000143702	ENST00000336415	.	.	.	4.72	-0.774	0.10991	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49624	-0.8920	4	.	.	.	-19.4299	9.3302	0.38016	0.0:0.4729:0.0:0.5271	.	.	.	.	S	1533	.	.	N	-	2	0	CEP170	241356452	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	0.370000	0.20433	-0.060000	0.13132	0.254000	0.18369	AAT		0.458	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		6	18	0	0	0	0	6	18				
ZNF695	57116	broad.mit.edu	37	1	247163359	247163359	+	Silent	SNP	C	C	T	rs376529611		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247163359C>T	ENST00000339986.7	-	2	168	c.21G>A	c.(19-21)agG>agA	p.R7R	ZNF695_ENST00000487338.2_Silent_p.R7R|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	7	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAGCCACATCCCTGAATGCCA	0.453																																						uc009xgu.2		NA																	0					0						c.(19-21)AGG>AGA		zinc finger protein SBZF3		C	,	1,4325	2.1+/-5.4	0,1,2162	58.0	62.0	61.0		21,21	0.6	0.9	1		61	0,8558		0,0,4279	no	coding-synonymous,coding-synonymous	ZNF695	NM_001204221.1,NM_020394.4	,	0,1,6441	TT,TC,CC		0.0,0.0231,0.0078	,	7/173,7/516	247163359	1,12883	2163	4279	6442	SO:0001819	synonymous_variant	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247163359C>T		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.21G>A	1.37:g.247163359C>T						ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Silent_p.R7R|ZNF695_uc001iby.2_RNA|ZNF695_uc001icc.2_Silent_p.R7R	p.R7R	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		2	166	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	7			KRAB.		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Silent	SNP	ENST00000339986.7	37	c.21G>A	CCDS44344.1																																																																																				0.453	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		9	55	0	0	0	0	9	55				
OR2W5	441932	broad.mit.edu	37	1	247655080	247655080	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247655080C>T	ENST00000522351.1	+	0	711							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							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(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATCCTCATCTCCTATGGCGTG	0.562																																						uc001icz.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(649-651)CTC>CTT		olfactory receptor, family 2, subfamily W,							113.0	114.0	114.0					1																	247655080		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655080C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655080C>T							p.L217L	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	651	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	217					B9EH85	Silent	SNP	ENST00000522351.1	37	c.651C>T																																																																																					0.562	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		25	81	0	0	0	0	25	81				
OR2G2	81470	broad.mit.edu	37	1	247752021	247752021	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247752021G>A	ENST00000320065.1	+	1	360	c.360G>A	c.(358-360)gtG>gtA	p.V120V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	120			V -> L (in dbSNP:rs1151687).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCGGCTGTGATGTCCTGTG	0.532																																						uc010pyy.1		NA																	0					0						c.(358-360)GTG>GTA		olfactory receptor, family 2, subfamily G,							276.0	221.0	239.0					1																	247752021		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752021G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.360G>A	1.37:g.247752021G>A							p.V120V	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	360	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		120			Helical; Name=3; (Potential).		Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.360G>A	CCDS31092.1																																																																																				0.532	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			33	149	0	0	0	0	33	149				
OR14A16	284532	broad.mit.edu	37	1	247978769	247978769	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247978769T>C	ENST00000357627.1	-	1	262	c.263A>G	c.(262-264)aAc>aGc	p.N88S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	88						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(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGAAATGGAGTTGTTGTGTAT	0.448																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	0					0						c.(262-264)AAC>AGC		olfactory receptor, family 14, subfamily A,							91.0	91.0	91.0					1																	247978769		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978769T>C	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.263A>G	1.37:g.247978769T>C	ENSP00000350248:p.Asn88Ser						p.N88S	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	263	-			88			Extracellular (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.263A>G	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	T	3.600	-0.081864	0.07141	.	.	ENSG00000196772	ENST00000357627	T	0.36520	1.25	3.51	-1.81	0.07882	GPCR, rhodopsin-like superfamily (1);	1.295360	0.05645	N	0.584117	T	0.23806	0.0576	L	0.27975	0.815	0.09310	N	1	B	0.14438	0.01	B	0.15484	0.013	T	0.24905	-1.0147	10	0.38643	T	0.18	.	5.7427	0.18102	0.0:0.3463:0.1381:0.5156	.	88	Q8NHC5	O14AG_HUMAN	S	88	ENSP00000350248:N88S	ENSP00000350248:N88S	N	-	2	0	OR14A16	246045392	0.000000	0.05858	0.000000	0.03702	0.306000	0.27790	-0.042000	0.12063	-0.457000	0.07033	0.481000	0.45027	AAC		0.448	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		8	40	0	0	0	0	8	40				
OR2L3	391192	broad.mit.edu	37	1	248224682	248224682	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248224682G>A	ENST00000359959.3	+	1	699	c.699G>A	c.(697-699)agG>agA	p.R233R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R233S(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAGAAGGGAGGAAGAAAGCCT	0.478																																						uc001idx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(697-699)AGG>AGA		olfactory receptor, family 2, subfamily L,							180.0	162.0	168.0					1																	248224682		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224682G>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.699G>A	1.37:g.248224682G>A						OR2L13_uc001ids.2_Intron	p.R233R	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	699	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		233			Cytoplasmic (Potential).		B9EH44	Silent	SNP	ENST00000359959.3	37	c.699G>A	CCDS31104.1																																																																																				0.478	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		74	105	0	0	0	0	74	105				
OR2L13	284521	broad.mit.edu	37	1	248262753	248262753	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248262753C>T	ENST00000358120.2	+	2	221	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	OR2L13_ENST00000366478.2_Missense_Mutation_p.L26F			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L26I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGGAATATTTCTCTTGTGCCT	0.438																																						uc001ids.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(76-78)CTC>TTC		olfactory receptor, family 2, subfamily L,							181.0	179.0	180.0					1																	248262753		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262753C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.76C>T	1.37:g.248262753C>T	ENSP00000350836:p.Leu26Phe						p.L26F	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	413	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		26			Helical; Name=1; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.76C>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	8.771	0.925933	0.18056	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.17213	2.29;2.29	4.07	3.16	0.36331	.	0.606738	0.13682	N	0.370112	T	0.24470	0.0593	L	0.58925	1.835	0.09310	N	1	P	0.50066	0.931	P	0.49752	0.621	T	0.05801	-1.0863	10	0.46703	T	0.11	.	8.9036	0.35510	0.0:0.8142:0.0:0.1858	.	26	Q8N349	OR2LD_HUMAN	F	26	ENSP00000355434:L26F;ENSP00000350836:L26F	ENSP00000350836:L26F	L	+	1	0	OR2L13	246329376	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.072000	0.11486	0.908000	0.36671	0.650000	0.86243	CTC		0.438	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		56	80	0	0	0	0	56	80				
OR2M5	127059	broad.mit.edu	37	1	248308568	248308568	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248308568T>G	ENST00000366476.1	+	1	119	c.119T>G	c.(118-120)aTg>aGg	p.M40R		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GTGGCCTTCATGGGAAACTCT	0.522																																						uc010pze.1		NA																	0				ovary(2)|kidney(1)	3						c.(118-120)ATG>AGG		olfactory receptor, family 2, subfamily M,							258.0	251.0	254.0					1																	248308568		2203	4297	6500	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308568T>G		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.119T>G	1.37:g.248308568T>G	ENSP00000355432:p.Met40Arg						p.M40R	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	119	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		40			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.119T>G	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	2.970	-0.212739	0.06140	.	.	ENSG00000162727	ENST00000366476	T	0.00458	7.28	3.28	3.28	0.37604	.	1.206790	0.06526	U	0.740590	T	0.00608	0.0020	M	0.78049	2.395	0.23249	N	0.998049	B	0.12013	0.005	B	0.11329	0.006	T	0.51529	-0.8694	10	0.36615	T	0.2	.	7.5605	0.27849	0.0:0.1111:0.0:0.8889	.	40	A3KFT3	OR2M5_HUMAN	R	40	ENSP00000355432:M40R	ENSP00000355432:M40R	M	+	2	0	OR2M5	246375191	0.001000	0.12720	0.813000	0.32504	0.146000	0.21551	0.655000	0.24933	1.250000	0.43966	0.403000	0.27427	ATG		0.522	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		120	183	0	0	0	0	120	183				
OR2T12	127064	broad.mit.edu	37	1	248458859	248458859	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248458859G>A	ENST00000317996.1	-	1	21	c.22C>T	c.(22-24)Cca>Tca	p.P8S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATAAAATCTGGGGTAGTATTT	0.438																																						uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(22-24)CCA>TCA		olfactory receptor, family 2, subfamily T,							73.0	75.0	74.0					1																	248458859		2203	4297	6500	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458859G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.22C>T	1.37:g.248458859G>A	ENSP00000324583:p.Pro8Ser						p.P8S	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	22	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		8			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.22C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.508057	0.00155	.	.	ENSG00000177201	ENST00000317996	T	0.00446	7.39	1.56	-3.13	0.05266	.	2.030560	0.03385	N	0.200928	T	0.00109	0.0003	N	0.00413	-1.525	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37753	-0.9692	10	0.02654	T	1	.	2.8241	0.05480	0.4536:0.0:0.2394:0.307	.	8	Q8NG77	O2T12_HUMAN	S	8	ENSP00000324583:P8S	ENSP00000324583:P8S	P	-	1	0	OR2T12	246525482	0.000000	0.05858	0.001000	0.08648	0.083000	0.17756	-1.463000	0.02361	-1.052000	0.03222	-1.109000	0.02080	CCA		0.438	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		23	89	0	0	0	0	23	89				
OR2G6	391211	broad.mit.edu	37	1	248685539	248685539	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248685539G>A	ENST00000343414.4	+	1	624	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAACGAGGCAGAACTCTTTGT	0.473																																						uc001ien.1		NA																	0				ovary(2)|skin(1)	3						c.(592-594)GAA>AAA		olfactory receptor, family 2, subfamily G,							128.0	132.0	131.0					1																	248685539		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685539G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.592G>A	1.37:g.248685539G>A	ENSP00000341291:p.Glu198Lys						p.E198K	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	592	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	198			Helical; Name=5; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.592G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	10.55	1.382599	0.25031	.	.	ENSG00000188558	ENST00000343414	T	0.36878	1.23	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	U	0.000412	T	0.41096	0.1144	L	0.50333	1.59	0.09310	N	1	P	0.52692	0.955	P	0.51657	0.676	T	0.27536	-1.0071	10	0.17369	T	0.5	.	14.3343	0.66578	0.0:0.0:1.0:0.0	.	198	Q5TZ20	OR2G6_HUMAN	K	198	ENSP00000341291:E198K	ENSP00000341291:E198K	E	+	1	0	OR2G6	246752162	0.000000	0.05858	0.233000	0.24025	0.316000	0.28119	-2.210000	0.01227	1.869000	0.54173	0.400000	0.26472	GAA		0.473	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		41	51	0	0	0	0	41	51				
NET1	10276	broad.mit.edu	37	10	5498571	5498571	+	Missense_Mutation	SNP	C	C	T	rs150542987	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:5498571C>T	ENST00000355029.4	+	12	1547	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	NET1_ENST00000542715.1_Missense_Mutation_p.R288C|NET1_ENST00000380359.3_Missense_Mutation_p.R415C	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	469	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R469C(1)|p.R415C(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CTTTAGAATTCGCTTCCATGA	0.403																																						uc001iia.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	breast(1)	1						c.(1405-1407)CGC>TGC		neuroepithelial cell transforming gene 1 isoform		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	49.0	54.0	52.0		1405,1243	4.3	1.0	10	dbSNP_134	52	1,8599		0,1,4299	no	missense,missense	NET1	NM_001047160.1,NM_005863.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	469/597,415/543	5498571	1,13005	2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5498571C>T	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1405C>T	10.37:g.5498571C>T	ENSP00000347134:p.Arg469Cys					NET1_uc010qar.1_Missense_Mutation_p.R288C|NET1_uc001iib.2_Missense_Mutation_p.R415C|NET1_uc010qas.1_Missense_Mutation_p.R288C	p.R469C	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN			12	1543	+			469			PH.		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.1405C>T	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060270	0.36373	0.0	1.16E-4	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	T;T;T	0.30714	1.52;1.52;1.52	5.23	4.33	0.51752	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.162786	0.28688	N	0.014461	T	0.50360	0.1611	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.959	T	0.52275	-0.8597	10	0.59425	D	0.04	-6.7999	14.7327	0.69393	0.0:0.8542:0.1458:0.0	.	415;469	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	C	469;288;415	ENSP00000347134:R469C;ENSP00000446452:R288C;ENSP00000369717:R415C	ENSP00000347134:R469C	R	+	1	0	NET1	5488571	0.978000	0.34361	1.000000	0.80357	0.236000	0.25371	1.880000	0.39628	1.198000	0.43158	-0.223000	0.12442	CGC		0.403	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		15	75	0	0	0	0	15	75				
FBXO18	84893	broad.mit.edu	37	10	5966446	5966446	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:5966446C>T	ENST00000362091.4	+	17	2686	c.2571C>T	c.(2569-2571)tgC>tgT	p.C857C	FBXO18_ENST00000397269.3_Silent_p.C344C|FBXO18_ENST00000379999.5_Silent_p.C908C	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	857					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TAGAAAAATGCCATATAGAAG	0.433																																						uc001iis.2		NA																	0				ovary(2)|skin(1)	3						c.(2569-2571)TGC>TGT		F-box only protein, helicase, 18 isoform 2							97.0	101.0	100.0					10																	5966446		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5966446C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2571C>T	10.37:g.5966446C>T						FBXO18_uc001iir.2_Silent_p.C783C|FBXO18_uc009xig.2_Silent_p.C783C|FBXO18_uc001iit.2_Silent_p.C908C	p.C857C	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			17	2666	+			857					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.2571C>T	CCDS7072.1																																																																																				0.433	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		9	24	0	0	0	0	9	24				
PRKCQ	5588	broad.mit.edu	37	10	6540382	6540382	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:6540382C>A	ENST00000263125.5	-	5	617	c.518G>T	c.(517-519)tGc>tTc	p.C173F	PRKCQ_ENST00000539722.1_Missense_Mutation_p.C48F|PRKCQ_ENST00000397176.2_Missense_Mutation_p.C173F	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	173					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GCAGACAGAGCAAAATGTGGG	0.527																																					Ovarian(50;572 1126 10530 25349 30594)	uc001ijj.1		NA																	0				ovary(3)|lung(2)|large_intestine(1)	6						c.(517-519)TGC>TTC		protein kinase C, theta							293.0	235.0	255.0					10																	6540382		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6540382C>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.518G>T	10.37:g.6540382C>A	ENSP00000263125:p.Cys173Phe					PRKCQ_uc009xim.1_Missense_Mutation_p.C173F|PRKCQ_uc001iji.1_Missense_Mutation_p.C206F|PRKCQ_uc009xin.1_Missense_Mutation_p.C137F|PRKCQ_uc010qax.1_Missense_Mutation_p.C48F	p.C173F	NM_006257	NP_006248	Q04759	KPCT_HUMAN			5	593	-			173			Phorbol-ester/DAG-type 1.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.518G>T	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409296	0.62399	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	D;D;D	0.99891	-7.56;-7.56;-7.56	5.62	4.73	0.59995	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.99923	0.9964	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95965	0.8965	10	0.87932	D	0	.	14.5058	0.67752	0.0:0.9298:0.0:0.0702	.	48;173;173	B4DF52;Q04759-2;Q04759	.;.;KPCT_HUMAN	F	173;173;48	ENSP00000263125:C173F;ENSP00000380361:C173F;ENSP00000441752:C48F	ENSP00000263125:C173F	C	-	2	0	PRKCQ	6580388	1.000000	0.71417	0.980000	0.43619	0.447000	0.32167	7.711000	0.84669	1.374000	0.46228	-0.136000	0.14681	TGC		0.527	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		23	83	1	0	3.29e-13	3.39e-13	23	83				
SFMBT2	57713	broad.mit.edu	37	10	7214518	7214518	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:7214518G>A	ENST00000361972.4	-	18	2180	c.2090C>T	c.(2089-2091)tCc>tTc	p.S697F	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S697F	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	697					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CACGAAAATGGATTTCCGTCG	0.602																																						uc009xio.1		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(2089-2091)TCC>TTC		Scm-like with four mbt domains 2							48.0	50.0	50.0					10																	7214518		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214518G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2090C>T	10.37:g.7214518G>A	ENSP00000355109:p.Ser697Phe					SFMBT2_uc001ijn.1_Missense_Mutation_p.S697F|SFMBT2_uc010qay.1_Missense_Mutation_p.S532F	p.S697F	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			18	2181	-			697					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2090C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553156	0.65425	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.15834	2.39;2.39	5.37	5.37	0.77165	.	0.168332	0.53938	D	0.000059	T	0.20981	0.0505	L	0.60455	1.87	0.80722	D	1	P	0.50272	0.933	B	0.42882	0.401	T	0.01081	-1.1458	10	0.56958	D	0.05	.	13.0904	0.59164	0.0781:0.0:0.9219:0.0	.	697	Q5VUG0	SMBT2_HUMAN	F	697	ENSP00000355109:S697F;ENSP00000380353:S697F	ENSP00000355109:S697F	S	-	2	0	SFMBT2	7254524	1.000000	0.71417	0.997000	0.53966	0.884000	0.51177	5.846000	0.69444	2.508000	0.84585	0.484000	0.47621	TCC		0.602	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		10	49	0	0	0	0	10	49				
NUDT5	11164	broad.mit.edu	37	10	12219884	12219884	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:12219884G>A	ENST00000491614.1	-	5	592	c.197C>T	c.(196-198)cCc>cTc	p.P66L	NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000537776.1_Missense_Mutation_p.P66L|NUDT5_ENST00000378927.3_Missense_Mutation_p.P66L|NUDT5_ENST00000378940.3_Missense_Mutation_p.P66L|NUDT5_ENST00000378937.3_Missense_Mutation_p.P79L			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	66	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CTGCAGCACGGGGATGACCGC	0.502																																						uc001ilj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(196-198)CCC>CTC		nudix-type motif 5							92.0	71.0	78.0					10																	12219884		2203	4300	6503	SO:0001583	missense	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12219884G>A	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.197C>T	10.37:g.12219884G>A	ENSP00000419628:p.Pro66Leu					NUDT5_uc001ilk.2_Missense_Mutation_p.P66L	p.P66L	NM_014142	NP_054861	Q9UKK9	NUDT5_HUMAN			5	613	-		Renal(717;0.228)	66			Nudix hydrolase.		A8K516|Q6IAG0|Q9UH49	Missense_Mutation	SNP	ENST00000491614.1	37	c.197C>T	CCDS7089.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774159	0.69992	.	.	ENSG00000165609	ENST00000491614;ENST00000378929;ENST00000378937;ENST00000537776;ENST00000378940;ENST00000378927;ENST00000444732	T;T;T;T;T	0.03717	3.83;3.83;3.83;3.83;3.83	5.83	5.83	0.93111	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.099859	0.64402	D	0.000002	T	0.19046	0.0457	M	0.75777	2.31	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.67231	0.95;0.859	T	0.00016	-1.2387	10	0.56958	D	0.05	-17.2701	19.7189	0.96135	0.0:0.0:1.0:0.0	.	66;66	A6NCQ0;Q9UKK9	.;NUDT5_HUMAN	L	66;66;79;66;66;66;84	ENSP00000419628:P66L;ENSP00000368219:P79L;ENSP00000445116:P66L;ENSP00000368222:P66L;ENSP00000368209:P66L	ENSP00000368209:P66L	P	-	2	0	NUDT5	12259890	1.000000	0.71417	0.949000	0.38748	0.111000	0.19643	7.958000	0.87877	2.750000	0.94351	0.591000	0.81541	CCC		0.502	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			7	38	0	0	0	0	7	38				
CUBN	8029	broad.mit.edu	37	10	16948290	16948290	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:16948290C>T	ENST00000377833.4	-	50	7889	c.7824G>A	c.(7822-7824)caG>caA	p.Q2608Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2608	CUB 19. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGAATTTCCCTGATTTGGAT	0.413																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7822-7824)CAG>CAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						112.0	111.0	111.0					10																	16948290		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16948290C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7824G>A	10.37:g.16948290C>T						CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_5'UTR	p.Q2608Q	NM_001081	NP_001072	O60494	CUBN_HUMAN			50	7876	-			2608			CUB 19.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.7824G>A	CCDS7113.1																																																																																				0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		8	87	0	0	0	0	8	87				
GPR158	57512	broad.mit.edu	37	10	25878064	25878064	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:25878064C>T	ENST00000376351.3	+	8	2241	c.1882C>T	c.(1882-1884)Cat>Tat	p.H628Y		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	628				ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3). {ECO:0000305}.	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						TGCTATATTCCATACAATTAG	0.378																																						uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1882-1884)CAT>TAT		G protein-coupled receptor 158 precursor							101.0	95.0	97.0					10																	25878064		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25878064C>T	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.1882C>T	10.37:g.25878064C>T	ENSP00000365529:p.His628Tyr						p.H628Y	NM_020752	NP_065803	Q5T848	GP158_HUMAN			8	1942	+			628	ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3).		Helical; Name=6; (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1882C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514190	0.64522	.	.	ENSG00000151025	ENST00000376351	D	0.87334	-2.24	5.06	4.14	0.48551	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000004	D	0.87977	0.6314	L	0.38838	1.175	0.47994	D	0.999566	P	0.45827	0.867	P	0.56088	0.791	D	0.86849	0.2022	10	0.39692	T	0.17	.	14.7887	0.69824	0.1453:0.8547:0.0:0.0	.	628	Q5T848	GP158_HUMAN	Y	628	ENSP00000365529:H628Y	ENSP00000365529:H628Y	H	+	1	0	GPR158	25918070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.974000	0.49272	1.107000	0.41642	0.650000	0.86243	CAT		0.378	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		11	40	0	0	0	0	11	40				
GAD2	2572	broad.mit.edu	37	10	26518694	26518694	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:26518694C>T	ENST00000376261.3	+	7	1331	c.828C>T	c.(826-828)ttC>ttT	p.F276F	GAD2_ENST00000259271.3_Silent_p.F276F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	276					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCATTGCCTTCACGTCTGAAC	0.448																																						uc001isp.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(826-828)TTC>TTT		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						217.0	174.0	189.0					10																	26518694		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26518694C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.828C>T	10.37:g.26518694C>T						GAD2_uc001isq.2_Silent_p.F276F	p.F276F	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			7	1331	+			276					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.828C>T	CCDS7149.1																																																																																				0.448	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		18	28	0	0	0	0	18	28				
ANKRD26	22852	broad.mit.edu	37	10	27324456	27324456	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:27324456T>A	ENST00000376087.4	-	24	3088	c.2923A>T	c.(2923-2925)Aat>Tat	p.N975Y	ANKRD26_ENST00000436985.2_Missense_Mutation_p.N991Y|ANKRD26_ENST00000376070.3_Missense_Mutation_p.N532Y	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	974					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AGCCGTCCATTATACTGGGAT	0.353																																						uc001ith.2		NA																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(2920-2922)AAT>TAT		ankyrin repeat domain 26							192.0	163.0	172.0					10																	27324456		1849	4103	5952	SO:0001583	missense	22852					centrosome		g.chr10:27324456T>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2923A>T	10.37:g.27324456T>A	ENSP00000365255:p.Asn975Tyr					ANKRD26_uc001itg.2_Missense_Mutation_p.N661Y|ANKRD26_uc009xku.1_Missense_Mutation_p.N975Y	p.N974Y	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			24	3092	-			974			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.2920A>T	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774942	0.49786	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.15372	2.43;2.43;2.43	5.64	4.51	0.55191	.	0.557283	0.14932	U	0.289985	T	0.30634	0.0771	L	0.43923	1.385	0.09310	N	1	D;D;D	0.71674	0.998;0.996;0.976	D;P;P	0.65443	0.935;0.862;0.556	T	0.07673	-1.0760	10	0.87932	D	0	.	9.7293	0.40350	0.0:0.0819:0.0:0.9181	.	975;974;991	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	Y	532;975;991	ENSP00000365238:N532Y;ENSP00000365255:N975Y;ENSP00000405112:N991Y	ENSP00000365238:N532Y	N	-	1	0	ANKRD26	27364462	0.993000	0.37304	0.001000	0.08648	0.885000	0.51271	6.580000	0.74040	0.987000	0.38709	-0.353000	0.07706	AAT		0.353	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			34	62	0	0	0	0	34	62				
PTCHD3	374308	broad.mit.edu	37	10	27687894	27687894	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:27687894C>T	ENST00000438700.3	-	4	1750	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	545					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGACTACTTCTCTTTTACCA	0.393																																						uc001itu.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1633-1635)GAA>AAA		patched domain containing 3							103.0	99.0	100.0					10																	27687894		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27687894C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1633G>A	10.37:g.27687894C>T	ENSP00000417658:p.Glu545Lys						p.E545K	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			4	1751	-			545					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1633G>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281930	0.80692	.	.	ENSG00000182077	ENST00000438700	D	0.87809	-2.3	4.08	4.08	0.47627	.	0.102163	0.64402	D	0.000005	D	0.92912	0.7745	M	0.84326	2.69	0.50039	D	0.999844	D	0.55172	0.97	P	0.61940	0.896	D	0.94193	0.7443	10	0.72032	D	0.01	-22.6333	16.0519	0.80769	0.0:1.0:0.0:0.0	.	545	Q3KNS1	PTHD3_HUMAN	K	545	ENSP00000417658:E545K	ENSP00000417658:E545K	E	-	1	0	PTCHD3	27727900	1.000000	0.71417	0.994000	0.49952	0.866000	0.49608	6.071000	0.71229	2.100000	0.63781	0.484000	0.47621	GAA		0.393	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		17	62	0	0	0	0	17	62				
KIAA1462	57608	broad.mit.edu	37	10	30315322	30315322	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:30315322C>T	ENST00000375377.1	-	3	3856	c.3755G>A	c.(3754-3756)aGg>aAg	p.R1252K		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1252					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTCTGCTCTCCTAGGCGGGGA	0.522																																						uc001iux.2		NA																	0				ovary(4)	4						c.(3754-3756)AGG>AAG		hypothetical protein LOC57608							63.0	60.0	61.0					10																	30315322		1934	4138	6072	SO:0001583	missense	57608							g.chr10:30315322C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3755G>A	10.37:g.30315322C>T	ENSP00000364526:p.Arg1252Lys					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1114K|KIAA1462_uc009xle.1_Missense_Mutation_p.R1252K	p.R1252K	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3814	-			1252					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3755G>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	5.517	0.280387	0.10458	.	.	ENSG00000165757	ENST00000375377	T	0.12465	2.68	5.44	2.3	0.28687	.	0.394171	0.25456	N	0.030552	T	0.09468	0.0233	L	0.39898	1.24	0.09310	N	1	B	0.28783	0.222	B	0.24701	0.055	T	0.33752	-0.9856	10	0.13470	T	0.59	-17.0741	8.8907	0.35432	0.0:0.6339:0.2159:0.1502	.	1252	Q9P266	K1462_HUMAN	K	1252	ENSP00000364526:R1252K	ENSP00000364526:R1252K	R	-	2	0	KIAA1462	30355328	0.669000	0.27502	0.001000	0.08648	0.179000	0.23085	1.597000	0.36729	0.649000	0.30751	0.655000	0.94253	AGG		0.522	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		14	53	0	0	0	0	14	53				
ITGB1	3688	broad.mit.edu	37	10	33208967	33208967	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:33208967C>T	ENST00000396033.2	-	11	1450	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	ITGB1_ENST00000423113.1_Missense_Mutation_p.D439N|ITGB1_ENST00000302278.3_Missense_Mutation_p.D439N|ITGB1_ENST00000374956.4_Missense_Mutation_p.D439N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	439					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CTGTCAGAATCCTTTTTTGGA	0.348																																						uc001iws.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1315-1317)GAT>AAT		integrin beta 1 isoform 1A precursor							125.0	133.0	130.0					10																	33208967		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33208967C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1315G>A	10.37:g.33208967C>T	ENSP00000379350:p.Asp439Asn					ITGB1_uc001iwp.3_Missense_Mutation_p.D439N|ITGB1_uc001iwq.3_Missense_Mutation_p.D439N|ITGB1_uc001iwr.3_Missense_Mutation_p.D439N|ITGB1_uc001iwt.3_Missense_Mutation_p.D439N|ITGB1_uc001iwu.1_Missense_Mutation_p.D439N	p.D439N	NM_133376	NP_596867	P05556	ITB1_HUMAN			11	1451	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	439			Extracellular (Potential).		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1315G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216410	0.22373	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	4.9	-3.79	0.04320	Integrin beta subunit, N-terminal (2);	0.731908	0.13636	N	0.373351	T	0.77711	0.4171	N	0.04508	-0.205	0.22918	N	0.998567	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001	T	0.63862	-0.6541	10	0.18276	T	0.48	.	11.2153	0.48823	0.0:0.7121:0.1422:0.1457	.	439;439;439;439;439	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	N	439	ENSP00000379350:D439N;ENSP00000388694:D439N;ENSP00000303351:D439N;ENSP00000364094:D439N	ENSP00000303351:D439N	D	-	1	0	ITGB1	33248973	0.984000	0.35163	0.899000	0.35326	0.617000	0.37484	0.549000	0.23329	-0.650000	0.05423	-0.373000	0.07131	GAT		0.348	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		62	112	0	0	0	0	62	112				
ITGB1	3688	broad.mit.edu	37	10	33217084	33217084	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:33217084A>C	ENST00000396033.2	-	5	620	c.485T>G	c.(484-486)gTa>gGa	p.V162G	ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_Missense_Mutation_p.V162G|ITGB1_ENST00000302278.3_Missense_Mutation_p.V162G|ITGB1_ENST00000374956.4_Missense_Mutation_p.V162G	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	162	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	AAGACTTTTTACATTCTCCAA	0.363																																						uc001iws.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(484-486)GTA>GGA		integrin beta 1 isoform 1A precursor							147.0	147.0	147.0					10																	33217084		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33217084A>C	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.485T>G	10.37:g.33217084A>C	ENSP00000379350:p.Val162Gly					ITGB1_uc001iwp.3_Missense_Mutation_p.V162G|ITGB1_uc001iwq.3_Missense_Mutation_p.V162G|ITGB1_uc001iwr.3_Missense_Mutation_p.V162G|ITGB1_uc001iwt.3_Missense_Mutation_p.V162G|ITGB1_uc001iwu.1_Missense_Mutation_p.V162G	p.V162G	NM_133376	NP_596867	P05556	ITB1_HUMAN			5	621	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	162			Extracellular (Potential).|VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.485T>G	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.855755	0.91355	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956;ENST00000480226	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	6.07	6.07	0.98685	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.97374	0.9141	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999	D;D;D;D;D	0.74674	0.973;0.984;0.974;0.931;0.966	D	0.98137	1.0434	10	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	162;162;162;162;162	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	G	162	ENSP00000379350:V162G;ENSP00000388694:V162G;ENSP00000303351:V162G;ENSP00000364094:V162G;ENSP00000417537:V162G	ENSP00000303351:V162G	V	-	2	0	ITGB1	33257090	1.000000	0.71417	0.949000	0.38748	0.813000	0.45954	9.307000	0.96226	2.326000	0.78906	0.533000	0.62120	GTA		0.363	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		26	79	0	0	0	0	26	79				
ZNF239	8187	broad.mit.edu	37	10	44052301	44052301	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:44052301C>T	ENST00000306006.6	-	2	1879	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G	ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000535642.1_Silent_p.G409G|ZNF239_ENST00000374446.2_Silent_p.G409G|ZNF239_ENST00000426961.1_Silent_p.G409G	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAATCCCTTCCCACACTTGC	0.522																																						uc001jaw.3		NA																	0					0						c.(1225-1227)GGG>GGA		zinc finger protein 239							81.0	90.0	87.0					10																	44052301		2194	4295	6489	SO:0001819	synonymous_variant	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44052301C>T	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.1227G>A	10.37:g.44052301C>T						ZNF239_uc001jax.3_Silent_p.G409G|ZNF239_uc009xmj.2_Silent_p.G409G|ZNF239_uc009xmk.2_Silent_p.G409G	p.G409G	NM_005674	NP_005665	Q16600	ZN239_HUMAN			2	1880	-			409			C2H2-type 8.		Q5T1G9|Q8TAS5	Silent	SNP	ENST00000306006.6	37	c.1227G>A	CCDS41502.1																																																																																				0.522	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			6	39	0	0	0	0	6	39				
RBP3	5949	broad.mit.edu	37	10	48390169	48390169	+	Missense_Mutation	SNP	C	C	T	rs139362090		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:48390169C>T	ENST00000224600.4	-	1	822	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	237	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCGGCCACGCCCCTGGTCTGG	0.657																																						uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(709-711)GGC>AGC		retinol-binding protein 3 precursor	Vitamin A(DB00162)						73.0	64.0	67.0					10																	48390169		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390169C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.709G>A	10.37:g.48390169C>T	ENSP00000224600:p.Gly237Ser						p.G237S	NM_002900	NP_002891	P10745	RET3_HUMAN			1	823	-			237			4 X approximate tandem repeats.|1.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.709G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521592	0.85600	.	.	ENSG00000107618	ENST00000224600	T	0.21543	2.0	5.71	5.71	0.89125	Interphotoreceptor retinol-binding (2);	0.045600	0.85682	D	0.000000	T	0.44030	0.1274	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21381	-1.0247	10	0.87932	D	0	-31.3763	18.848	0.92215	0.0:1.0:0.0:0.0	.	237	P10745	RET3_HUMAN	S	237	ENSP00000224600:G237S	ENSP00000224600:G237S	G	-	1	0	RBP3	48010175	1.000000	0.71417	0.653000	0.29593	0.472000	0.32918	5.689000	0.68234	2.710000	0.92621	0.655000	0.94253	GGC		0.657	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		10	25	0	0	0	0	10	25				
GDF10	2662	broad.mit.edu	37	10	48428967	48428967	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:48428967C>T	ENST00000224605.2	-	2	1184	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	307					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCCTCTCATCCAGCCCCGGC	0.746																																						uc001jfb.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(919-921)GAT>AAT		growth differentiation factor 10 precursor							10.0	12.0	11.0					10																	48428967		2192	4279	6471	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428967C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.919G>A	10.37:g.48428967C>T	ENSP00000224605:p.Asp307Asn					GDF10_uc009xnp.2_Missense_Mutation_p.D306N|GDF10_uc009xnq.1_Missense_Mutation_p.D307N	p.D307N	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	1375	-			307					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.919G>A	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110153	0.56398	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.74947	-0.89	5.41	3.52	0.40303	.	0.363841	0.30771	N	0.008906	T	0.63271	0.2497	L	0.51422	1.61	0.36779	D	0.884218	P;P	0.38922	0.501;0.651	B;B	0.27887	0.058;0.084	T	0.66626	-0.5876	10	0.42905	T	0.14	.	12.5124	0.56013	0.0:0.6797:0.3203:0.0	.	117;307	Q8N6T2;P55107	.;BMP3B_HUMAN	N	117;307	ENSP00000224605:D307N	ENSP00000224605:D307N	D	-	1	0	GDF10	48048973	0.958000	0.32768	0.986000	0.45419	0.871000	0.50021	0.605000	0.24179	0.632000	0.30432	0.561000	0.74099	GAT		0.746	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		3	13	0	0	0	0	3	13				
ARID5B	84159	broad.mit.edu	37	10	63851606	63851606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:63851606C>T	ENST00000279873.7	+	10	2794	c.2384C>T	c.(2383-2385)cCc>cTc	p.P795L	ARID5B_ENST00000309334.5_Missense_Mutation_p.P552L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	795					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CACCTTAACCCCCTTGCTGAC	0.507																																						uc001jlt.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(2383-2385)CCC>CTC		AT rich interactive domain 5B (MRF1-like)							93.0	98.0	97.0					10																	63851606		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63851606C>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2384C>T	10.37:g.63851606C>T	ENSP00000279873:p.Pro795Leu						p.P795L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			10	2410	+	Prostate(12;0.016)|all_hematologic(501;0.215)		795					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.2384C>T	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437758	0.25900	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.50548	0.75;0.74	5.87	4.96	0.65561	.	0.642647	0.17206	N	0.182928	T	0.38480	0.1042	L	0.38531	1.155	0.19945	N	0.99994	B	0.15141	0.012	B	0.15870	0.014	T	0.35895	-0.9770	10	0.87932	D	0	-0.6723	9.8497	0.41048	0.1404:0.7906:0.0:0.069	.	795	Q14865	ARI5B_HUMAN	L	795;552	ENSP00000279873:P795L;ENSP00000308862:P552L	ENSP00000279873:P795L	P	+	2	0	ARID5B	63521612	0.060000	0.20803	0.118000	0.21660	0.999000	0.98932	2.926000	0.48892	1.475000	0.48197	0.655000	0.94253	CCC		0.507	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		75	60	0	0	0	0	75	60				
JMJD1C	221037	broad.mit.edu	37	10	64974629	64974629	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:64974629G>A	ENST00000399262.2	-	8	1516	c.1298C>T	c.(1297-1299)cCc>cTc	p.P433L	JMJD1C_ENST00000542921.1_Missense_Mutation_p.P251L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P214L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P214L|JMJD1C_ENST00000489372.2_5'Flank	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	433					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGATCCCAGGGAGGCTGGCT	0.363																																						uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1297-1299)CCC>CTC		jumonji domain containing 1C isoform a							157.0	137.0	143.0					10																	64974629		1818	4072	5890	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64974629G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1298C>T	10.37:g.64974629G>A	ENSP00000382204:p.Pro433Leu					JMJD1C_uc001jml.2_Missense_Mutation_p.P214L|JMJD1C_uc001jmm.2_Missense_Mutation_p.P145L|JMJD1C_uc010qiq.1_Missense_Mutation_p.P251L|JMJD1C_uc009xpi.2_Missense_Mutation_p.P251L|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.P145L	p.P433L	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			8	1598	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		433					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.1298C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492028	0.26774	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.75	3.85	0.44370	.	0.237539	0.35235	U	0.003359	T	0.17662	0.0424	M	0.62723	1.935	0.58432	D	0.999996	B;B	0.29085	0.232;0.1	B;B	0.27887	0.084;0.022	T	0.01993	-1.1233	10	0.54805	T	0.06	1.5436	15.163	0.72798	0.0:0.0:0.7432:0.2568	.	433;251	Q15652;A0T124	JHD2C_HUMAN;.	L	433;214;214;251	ENSP00000382204:P433L;ENSP00000384990:P214L;ENSP00000382195:P214L;ENSP00000444682:P251L	ENSP00000382195:P214L	P	-	2	0	JMJD1C	64644635	1.000000	0.71417	0.411000	0.26484	0.636000	0.38137	3.961000	0.56759	0.725000	0.32318	0.561000	0.74099	CCC		0.363	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		41	59	0	0	0	0	41	59				
CTNNA3	29119	broad.mit.edu	37	10	67862933	67862933	+	Silent	SNP	G	G	A	rs556623128		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:67862933G>A	ENST00000433211.2	-	14	2133	c.1959C>T	c.(1957-1959)acC>acT	p.T653T	CTNNA3_ENST00000373744.4_Silent_p.T653T|RP11-210G22.1_ENST00000608793.1_RNA	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTTTCCCTTCGGTCTGAATGC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		19676	0.001		0.0	False		,,,				2504	0.0					uc009xpn.1		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1957-1959)ACC>ACT		catenin, alpha 3							229.0	172.0	191.0					10																	67862933		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67862933G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1959C>T	10.37:g.67862933G>A						CTNNA3_uc001jmw.2_Silent_p.T653T	p.T653T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			14	2082	-			653						Silent	SNP	ENST00000433211.2	37	c.1959C>T	CCDS7269.1																																																																																				0.488	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		15	51	0	0	0	0	15	51				
DNA2	1763	broad.mit.edu	37	10	70190226	70190226	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:70190226G>A	ENST00000358410.3	-	14	2225	c.2175C>T	c.(2173-2175)tcC>tcT	p.S725S	DNA2_ENST00000399180.2_Silent_p.S811S|DNA2_ENST00000399179.2_Intron	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	725	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GAAGAGCTAAGGATTTAATGG	0.358																																						uc001jof.2		NA																	0					0						c.(2431-2433)TCC>TCT		DNA replication helicase 2 homolog							73.0	68.0	69.0					10																	70190226		1835	4076	5911	SO:0001819	synonymous_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70190226G>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2175C>T	10.37:g.70190226G>A						DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA	p.S811S	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			14	2433	-			725					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.2433C>T		.	.	.	.	.	.	.	.	.	.	G	14.17	2.455799	0.43634	.	.	ENSG00000138346	ENST00000440722	.	.	.	5.52	-4.7	0.03288	.	.	.	.	.	T	0.50820	0.1638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49790	-0.8902	4	.	.	.	.	8.6886	0.34254	0.6113:0.0:0.2814:0.1073	.	.	.	.	F	47	.	.	L	-	1	0	DNA2	69860232	0.746000	0.28272	0.902000	0.35471	0.982000	0.71751	-0.164000	0.09983	-1.047000	0.03242	-0.291000	0.09656	CTT		0.358	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			7	16	0	0	0	0	7	16				
HKDC1	80201	broad.mit.edu	37	10	70998852	70998852	+	Missense_Mutation	SNP	G	G	A	rs537673064		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:70998852G>A	ENST00000354624.5	+	5	683	c.550G>A	c.(550-552)Gat>Aat	p.D184N	HKDC1_ENST00000395086.2_Missense_Mutation_p.D184N	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	184	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCAGGACACGGATGTGGTGAG	0.512																																						uc001jpf.3		NA																	0				ovary(4)|skin(1)	5						c.(550-552)GAT>AAT		hexokinase domain containing 1							87.0	77.0	80.0					10																	70998852		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:70998852G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.550G>A	10.37:g.70998852G>A	ENSP00000346643:p.Asp184Asn					HKDC1_uc010qje.1_Missense_Mutation_p.D47N	p.D184N	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			5	683	+			184					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.550G>A	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357565	0.41801	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99252	-5.63;-5.63	4.92	4.92	0.64577	Hexokinase, N-terminal (1);	0.048545	0.85682	D	0.000000	D	0.98346	0.9451	M	0.64630	1.985	0.58432	D	0.999991	B	0.23854	0.092	B	0.28385	0.089	D	0.98050	1.0387	10	0.32370	T	0.25	-19.9926	18.6753	0.91526	0.0:0.0:1.0:0.0	.	184	Q2TB90	HKDC1_HUMAN	N	184	ENSP00000346643:D184N;ENSP00000378521:D184N	ENSP00000346643:D184N	D	+	1	0	HKDC1	70668858	1.000000	0.71417	0.997000	0.53966	0.346000	0.29079	6.519000	0.73768	2.708000	0.92522	0.655000	0.94253	GAT		0.512	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		18	15	0	0	0	0	18	15				
CDH23	64072	broad.mit.edu	37	10	73570315	73570315	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:73570315G>A	ENST00000224721.6	+	61	9086	c.9081G>A	c.(9079-9081)ctG>ctA	p.L3027L	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.L782L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3022					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCGCATCCTGGACGTGGACC	0.592																																						uc001jrx.3		NA																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(9064-9066)CTG>CTA		cadherin-like 23 isoform 1 precursor							94.0	104.0	101.0					10																	73570315		2124	4225	6349	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73570315G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9081G>A	10.37:g.73570315G>A						CDH23_uc001jsg.3_Silent_p.L782L|CDH23_uc001jsh.3_Silent_p.L782L|CDH23_uc001jsi.3_Silent_p.L782L|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	p.L3022L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			60	9443	+			3022			Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.9066G>A																																																																																					0.592	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		20	19	0	0	0	0	20	19				
KCNMA1	3778	broad.mit.edu	37	10	78850172	78850172	+	Silent	SNP	G	G	A	rs45617636		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:78850172G>A	ENST00000286628.8	-	10	1319	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	KCNMA1_ENST00000286627.5_Silent_p.I440I|KCNMA1_ENST00000372443.1_Silent_p.I440I|KCNMA1_ENST00000372440.1_Silent_p.I440I|KCNMA1_ENST00000404857.1_Silent_p.I440I|KCNMA1_ENST00000406533.3_Silent_p.I440I|KCNMA1_ENST00000404771.3_Silent_p.I440I|KCNMA1_ENST00000354353.5_Silent_p.I440I	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	440	RCK N-terminal.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GAAGAAAAACGATCTCCACAT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		22299	0.0		0.001	False		,,,				2504	0.0					uc001jxn.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1318-1320)ATC>ATT		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	G	,,,	1,4405	2.1+/-5.4	0,1,2202	225.0	190.0	202.0		1320,1320,1320,1320	-5.9	0.9	10	dbSNP_127	202	16,8584	11.9+/-42.8	0,16,4284	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	,,,	0,17,6486	AA,AG,GG		0.186,0.0227,0.1307	,,,	440/1183,440/1237,440/1220,440/1179	78850172	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78850172G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1320C>T	10.37:g.78850172G>A						KCNMA1_uc001jxj.2_Silent_p.I440I|KCNMA1_uc001jxk.1_Silent_p.I55I|KCNMA1_uc009xrt.1_Silent_p.I260I|KCNMA1_uc001jxl.1_Silent_p.I94I|KCNMA1_uc001jxo.2_Silent_p.I440I|KCNMA1_uc001jxm.2_Silent_p.I440I|KCNMA1_uc001jxq.2_Silent_p.I440I	p.I440I	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		10	1497	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		440			RCK N-terminal.|Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.1320C>T		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	6.763|6.763	0.509575|0.509575	0.12883|0.12883	2.27E-4|2.27E-4	0.00186|0.00186	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.67|5.67	-5.93|-5.93	0.02254|0.02254	.|.	.|.	.|.	.|.	.|.	T|T	0.50718|0.50718	0.1632|0.1632	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54443|0.54443	-0.8293|-0.8293	4|4	.|.	.|.	.|.	-8.7064|-8.7064	9.2545|9.2545	0.37575|0.37575	0.5212:0.0:0.3863:0.0925|0.5212:0.0:0.3863:0.0925	rs45617636|rs45617636	.|.	.|.	.|.	C|L	429;119|391	.|.	.|.	R|S	-|-	1|2	0|0	KCNMA1|KCNMA1	78520178|78520178	0.972000|0.972000	0.33761|0.33761	0.941000|0.941000	0.38009|0.38009	0.992000|0.992000	0.81027|0.81027	0.119000|0.119000	0.15626|0.15626	-0.749000|-0.749000	0.04747|0.04747	-0.140000|-0.140000	0.14226|0.14226	CGT|TCG		0.517	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		41	27	0	0	0	0	41	27				
DLG5	9231	broad.mit.edu	37	10	79581719	79581720	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:79581719_79581720GG>AA	ENST00000372391.2	-	15	2527_2528	c.2522_2523CC>TT	c.(2521-2523)tCC>tTT	p.S841F	DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	841					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGTCTGCGTGGAGTTATTGTG	0.52																																						uc001jzk.2		NA																	0				ovary(5)|breast(3)	8						c.(2521-2523)TCC>TTT		discs large homolog 5																																				SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581719_79581720GG>AA	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2522_2523delinsAA	10.37:g.79581719_79581720delinsAA	ENSP00000361467:p.Ser841Phe					DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.S445F	p.S841F	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	2592_2593	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		841					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	DNP	ENST00000372391.2	37	c.2522_2523CC>TT	CCDS7353.2																																																																																				0.520	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			63	54	0	0	0	0	63	54				
NRG3	10718	broad.mit.edu	37	10	84498353	84498353	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:84498353G>A	ENST00000404547.1	+	3	974	c.974G>A	c.(973-975)gGa>gAa	p.G325E	NRG3_ENST00000404576.2_Missense_Mutation_p.G129E|NRG3_ENST00000556918.1_Missense_Mutation_p.G155E|NRG3_ENST00000372142.2_Missense_Mutation_p.G104E|NRG3_ENST00000372141.2_Missense_Mutation_p.G325E			P56975	NRG3_HUMAN	neuregulin 3	325	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGCTACCAAGGAGTCCGTTGT	0.393																																						uc001kco.2		NA																	0				lung(5)|breast(1)	6						c.(973-975)GGA>GAA		neuregulin 3 isoform 1							157.0	138.0	144.0					10																	84498353		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84498353G>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.974G>A	10.37:g.84498353G>A	ENSP00000384796:p.Gly325Glu					NRG3_uc010qlz.1_Missense_Mutation_p.G325E|NRG3_uc001kcp.2_Missense_Mutation_p.G104E|NRG3_uc001kcq.2_5'UTR	p.G325E	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	3	1001	+			325			EGF-like.|Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.974G>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894378	0.91889	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918	D;D;D;D;D	0.99113	-5.44;-5.44;-5.44;-5.44;-5.44	5.84	5.84	0.93424	.	0.077106	0.49305	D	0.000150	D	0.99444	0.9803	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98794	1.0737	10	0.87932	D	0	-36.0581	17.6318	0.88111	0.0:0.0:1.0:0.0	.	325;104;325	B9EGV5;P56975-3;P56975-4	.;.;.	E	325;325;325;104;129;155	ENSP00000361214:G325E;ENSP00000384796:G325E;ENSP00000361215:G104E;ENSP00000385804:G129E;ENSP00000451376:G155E	ENSP00000361214:G325E	G	+	2	0	NRG3	84488333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.221000	0.95188	2.779000	0.95612	0.655000	0.94253	GGA		0.393	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		51	31	0	0	0	0	51	31				
NRG3	10718	broad.mit.edu	37	10	84745339	84745339	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:84745339G>A	ENST00000404547.1	+	10	2141	c.2141G>A	c.(2140-2142)aGa>aAa	p.R714K	NRG3_ENST00000404576.2_Missense_Mutation_p.R494K|NRG3_ENST00000556918.1_Missense_Mutation_p.R520K|NRG3_ENST00000537893.1_Missense_Mutation_p.R340K|NRG3_ENST00000372142.2_Missense_Mutation_p.R493K|NRG3_ENST00000372141.2_Missense_Mutation_p.R690K|NRG3_ENST00000545131.1_Missense_Mutation_p.R340K			P56975	NRG3_HUMAN	neuregulin 3	714					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAAATACAAAGAGACTCTGCA	0.418																																						uc001kco.2		NA																	0				lung(5)|breast(1)	6						c.(2068-2070)AGA>AAA		neuregulin 3 isoform 1							76.0	76.0	76.0					10																	84745339		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745339G>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2141G>A	10.37:g.84745339G>A	ENSP00000384796:p.Arg714Lys					NRG3_uc010qlz.1_Missense_Mutation_p.R689K|NRG3_uc001kcp.2_Missense_Mutation_p.R493K|NRG3_uc001kcq.2_Missense_Mutation_p.R340K|NRG3_uc001kcr.2_Missense_Mutation_p.R364K	p.R690K	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	9	2096	+			714			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.2069G>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763679	0.69878	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.62232	0.7;0.54;0.6;0.04;0.61;0.24;0.24	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	L	0.50333	1.59	0.46725	D	0.999172	D;D;D;D	0.61697	0.99;0.99;0.974;0.99	D;D;D;D	0.72982	0.979;0.979;0.969;0.979	T	0.76774	-0.2835	10	0.87932	D	0	-31.6031	16.4799	0.84155	0.0:0.0:1.0:0.0	.	689;714;493;690	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	K	690;714;689;493;494;520;340;340	ENSP00000361214:R690K;ENSP00000384796:R714K;ENSP00000361215:R493K;ENSP00000385804:R494K;ENSP00000451376:R520K;ENSP00000441201:R340K;ENSP00000440377:R340K	ENSP00000361214:R690K	R	+	2	0	NRG3	84735319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.943000	0.63554	2.567000	0.86603	0.591000	0.81541	AGA		0.418	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		11	49	0	0	0	0	11	49				
WAPAL	23063	broad.mit.edu	37	10	88260013	88260013	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:88260013C>T	ENST00000298767.5	-	3	1459	c.987G>A	c.(985-987)tcG>tcA	p.S329S		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	329	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CATCTTTACTCGATTCACTGT	0.458																																						uc001kdo.2		NA																	0				ovary(1)	1						c.(985-987)TCG>TCA		wings apart-like homolog							174.0	144.0	155.0					10																	88260013		2203	4300	6503	SO:0001819	synonymous_variant	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88260013C>T	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.987G>A	10.37:g.88260013C>T						WAPAL_uc001kdn.2_Silent_p.S372S|WAPAL_uc009xsw.2_Silent_p.S329S	p.S329S	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			3	1429	-			329			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	c.987G>A	CCDS7375.1																																																																																				0.458	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		16	80	0	0	0	0	16	80				
TLL2	7093	broad.mit.edu	37	10	98157001	98157001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:98157001C>T	ENST00000357947.3	-	11	1551	c.1326G>A	c.(1324-1326)tgG>tgA	p.W442*	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	442	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGAACTCCACCCAGAGCCGGC	0.582																																						uc001kml.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1324-1326)TGG>TGA		tolloid-like 2 precursor							64.0	55.0	58.0					10																	98157001		2203	4300	6503	SO:0001587	stop_gained	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98157001C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1326G>A	10.37:g.98157001C>T	ENSP00000350630:p.Trp442*					TLL2_uc009xvf.1_Nonsense_Mutation_p.W420*	p.W442*	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1552	-		Colorectal(252;0.0846)	442			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Nonsense_Mutation	SNP	ENST00000357947.3	37	c.1326G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	39	7.773983	0.98483	.	.	ENSG00000095587	ENST00000357947	.	.	.	4.79	4.79	0.61399	.	0.000000	0.43110	D	0.000604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0241	0.86441	0.0:1.0:0.0:0.0	.	.	.	.	X	442	.	ENSP00000350630:W442X	W	-	3	0	TLL2	98146991	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.504000	0.81646	2.481000	0.83766	0.650000	0.86243	TGG		0.582	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			19	18	0	0	0	0	19	18				
R3HCC1L	27291	broad.mit.edu	37	10	99968599	99968599	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:99968599C>T	ENST00000298999.3	+	5	1031	c.728C>T	c.(727-729)tCt>tTt	p.S243F	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S243F	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	243							nucleotide binding (GO:0000166)										AGCTCTGATTCTGAAATTGTA	0.393																																						uc001kow.3		NA																	0				large_intestine(1)|skin(1)	2						c.(727-729)TCT>TTT		growth inhibition and differentiation related							73.0	73.0	73.0					10																	99968599		2203	4300	6503	SO:0001583	missense	27291						nucleotide binding	g.chr10:99968599C>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.728C>T	10.37:g.99968599C>T	ENSP00000298999:p.Ser243Phe					C10orf28_uc001kox.3_Missense_Mutation_p.S243F|C10orf28_uc001koy.3_Missense_Mutation_p.S243F|C10orf28_uc009xvx.2_Missense_Mutation_p.S243F|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	p.S243F	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	4	1023	+		Colorectal(252;0.234)	243					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	c.728C>T	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100151	0.37048	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.11821	2.74;2.74	5.56	5.56	0.83823	.	0.099763	0.45361	D	0.000364	T	0.33760	0.0874	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.65874	0.939;0.912	T	0.00912	-1.1517	9	.	.	.	-7.2457	15.0332	0.71723	0.0:1.0:0.0:0.0	.	243;243	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	F	243	ENSP00000359616:S243F;ENSP00000298999:S243F	.	S	+	2	0	C10orf28	99958589	1.000000	0.71417	0.997000	0.53966	0.079000	0.17450	2.060000	0.41394	2.627000	0.88993	0.655000	0.94253	TCT		0.393	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		36	12	0	0	0	0	36	12				
R3HCC1L	27291	broad.mit.edu	37	10	99968919	99968919	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:99968919C>T	ENST00000298999.3	+	5	1351	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.P350S	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	350							nucleotide binding (GO:0000166)										GCACGAACCTCCTGATACAGC	0.398																																						uc001kow.3		NA																	0				large_intestine(1)|skin(1)	2						c.(1048-1050)CCT>TCT		growth inhibition and differentiation related							182.0	155.0	164.0					10																	99968919		2203	4300	6503	SO:0001583	missense	27291						nucleotide binding	g.chr10:99968919C>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1048C>T	10.37:g.99968919C>T	ENSP00000298999:p.Pro350Ser					C10orf28_uc001kox.3_Missense_Mutation_p.P350S|C10orf28_uc001koy.3_Missense_Mutation_p.P350S|C10orf28_uc009xvx.2_Missense_Mutation_p.P350S|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	p.P350S	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	4	1343	+		Colorectal(252;0.234)	350					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	c.1048C>T	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.610977	0.00121	.	.	ENSG00000166024	ENST00000370584;ENST00000298999	T;T	0.04917	3.53;3.53	4.88	0.756	0.18421	.	0.769392	0.12442	N	0.468541	T	0.01695	0.0054	N	0.01048	-1.04	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.45542	-0.9254	9	.	.	.	-2.2238	3.7967	0.08743	0.0:0.2294:0.2546:0.516	.	350;350	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	S	350	ENSP00000359616:P350S;ENSP00000298999:P350S	.	P	+	1	0	C10orf28	99958909	0.997000	0.39634	0.991000	0.47740	0.081000	0.17604	0.789000	0.26886	0.312000	0.23038	-0.302000	0.09304	CCT		0.398	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		19	81	0	0	0	0	19	81				
LOXL4	84171	broad.mit.edu	37	10	100016640	100016640	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100016640C>T	ENST00000260702.3	-	9	1475	c.1325G>A	c.(1324-1326)gGg>gAg	p.G442E	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	442	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCGTGGGACCCCGTTCACCTC	0.647																																						uc001kpa.1		NA																	0				ovary(3)|breast(1)|skin(1)	5						c.(1324-1326)GGG>GAG		lysyl oxidase-like 4 precursor							88.0	72.0	77.0					10																	100016640		2203	4300	6503	SO:0001583	missense	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100016640C>T	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1325G>A	10.37:g.100016640C>T	ENSP00000260702:p.Gly442Glu						p.G442E	NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	9	1476	-		Colorectal(252;0.234)	442			SRCR 4.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	c.1325G>A	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304225	0.95601	.	.	ENSG00000138131	ENST00000260702	T	0.40756	1.02	5.07	5.07	0.68467	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74893	-0.3509	10	0.66056	D	0.02	.	17.2228	0.86962	0.0:1.0:0.0:0.0	.	442	Q96JB6	LOXL4_HUMAN	E	442	ENSP00000260702:G442E	ENSP00000260702:G442E	G	-	2	0	LOXL4	100006630	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	6.054000	0.71096	2.350000	0.79820	0.555000	0.69702	GGG		0.647	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		13	43	0	0	0	0	13	43				
PYROXD2	84795	broad.mit.edu	37	10	100174846	100174847	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100174846_100174847GG>AA	ENST00000370575.4	-	1	94_95	c.46_47CC>TT	c.(46-48)CCc>TTc	p.P16F	HPS1_ENST00000467246.1_5'Flank	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	16							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CGCCGGGAAGGGAGAGGCGGCC	0.594																																						uc001kpc.2		NA																	0				central_nervous_system(1)	1						c.(46-48)CCC>TTC		pyridine nucleotide-disulphide oxidoreductase																																				SO:0001583	missense	84795						oxidoreductase activity	g.chr10:100174846_100174847GG>AA	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.46_47delinsAA	10.37:g.100174846_100174847delinsAA	ENSP00000359607:p.Pro16Phe					PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Missense_Mutation_p.P16F	p.P16F	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN			1	132_133	-			16					D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	DNP	ENST00000370575.4	37	c.46_47CC>TT	CCDS7474.1																																																																																				0.594	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		23	64	0	0	0	0	23	64				
HPS1	3257	broad.mit.edu	37	10	100179847	100179847	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100179847C>T	ENST00000325103.6	-	18	2045	c.1812G>A	c.(1810-1812)gaG>gaA	p.E604E	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.E604E	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	604					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGAAATCCCCCTCCTGGAACA	0.582									Hermansky-Pudlak syndrome																													uc010qpf.1		NA																	0				skin(1)	1						c.(1810-1812)GAG>GAA		Hermansky-Pudlak syndrome 1 protein isoform a							224.0	187.0	200.0					10																	100179847		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100179847C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1812G>A	10.37:g.100179847C>T						HPS1_uc001kpi.1_Silent_p.E605E|HPS1_uc001kpj.1_Silent_p.E512E|HPS1_uc001kpk.1_Silent_p.E429E	p.E604E	NM_000195	NP_000186	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	18	2058	-		Colorectal(252;0.234)	604					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.1812G>A	CCDS7475.1																																																																																				0.582	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		58	102	0	0	0	0	58	102				
GOT1	2805	broad.mit.edu	37	10	101163324	101163324	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101163324C>T	ENST00000370508.5	-	7	888	c.861G>A	c.(859-861)caG>caA	p.Q287Q	GOT1_ENST00000543866.1_Silent_p.Q266Q	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	287					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	TCTTCTCCATCTGGGAAAGGA	0.537																																					Melanoma(173;770 3544 21601)	uc001kpr.2		NA																	0					0						c.(859-861)CAG>CAA		aspartate aminotransferase 1	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						101.0	96.0	98.0					10																	101163324		2203	4300	6503	SO:0001819	synonymous_variant	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101163324C>T	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.861G>A	10.37:g.101163324C>T						GOT1_uc009xwh.2_RNA|GOT1_uc001kpq.1_5'UTR	p.Q287Q	NM_002079	NP_002070	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	7	1069	-		Ovarian(717;0.028)|Colorectal(252;0.234)	287					B2R6R7|B7Z7E9|Q5VW80	Silent	SNP	ENST00000370508.5	37	c.861G>A	CCDS7479.1																																																																																				0.537	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		47	77	0	0	0	0	47	77				
ABCC2	1244	broad.mit.edu	37	10	101556903	101556903	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101556903G>A	ENST00000370449.4	+	7	795	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	ABCC2_ENST00000370434.1_Missense_Mutation_p.E228K	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	228					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GGATGTCTGGGAAGTTGATGA	0.527																																						uc001kqf.2		NA																	0				ovary(1)	1						c.(682-684)GAA>AAA		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						75.0	73.0	74.0					10																	101556903		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101556903G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.682G>A	10.37:g.101556903G>A	ENSP00000359478:p.Glu228Lys						p.E228K	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	7	821	+		Colorectal(252;0.234)	228			Cytoplasmic (By similarity).		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.682G>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560434	0.45590	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	D;D	0.87491	-2.26;-2.26	5.62	4.71	0.59529	.	0.408346	0.30269	N	0.010008	T	0.79834	0.4514	N	0.11201	0.11	0.38452	D	0.946996	P	0.38788	0.647	B	0.43575	0.424	D	0.84034	0.0361	10	0.66056	D	0.02	-1.8564	13.932	0.64001	0.0728:0.0:0.9272:0.0	.	228	Q92887	MRP2_HUMAN	K	228	ENSP00000359478:E228K;ENSP00000359463:E228K	ENSP00000359463:E228K	E	+	1	0	ABCC2	101546893	1.000000	0.71417	0.997000	0.53966	0.018000	0.09664	6.775000	0.75018	2.639000	0.89480	0.561000	0.74099	GAA		0.527	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		43	30	0	0	0	0	43	30				
CPN1	1369	broad.mit.edu	37	10	101816815	101816816	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101816815_101816816CC>TT	ENST00000370418.3	-	6	1216_1217	c.965_966GG>AA	c.(964-966)cGG>cAA	p.R322Q		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	322	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCAGCCACTCCCGCTGTAACTC	0.455																																						uc001kql.2		NA																	0				central_nervous_system(3)|pancreas(1)	4						c.(964-966)CGG>CAA		carboxypeptidase N, polypeptide 1 precursor																																				SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816815_101816816CC>TT	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.965_966delinsTT	10.37:g.101816815_101816816delinsTT	ENSP00000359446:p.Arg322Gln						p.R322Q	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1225_1226	-		Colorectal(252;0.234)	322			Catalytic.		B1AP59	Missense_Mutation	DNP	ENST00000370418.3	37	c.965_966GG>AA	CCDS7486.1																																																																																				0.455	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		196	96	0	0	0	0	196	96				
CPN1	1369	broad.mit.edu	37	10	101824951	101824951	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101824951G>A	ENST00000370418.3	-	4	1004	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	251	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATACCTTCTGGAAGAGCTTGT	0.612																																						uc001kql.2		NA																	0				central_nervous_system(3)|pancreas(1)	4						c.(751-753)TTC>TTT		carboxypeptidase N, polypeptide 1 precursor							49.0	52.0	51.0					10																	101824951		2203	4300	6503	SO:0001819	synonymous_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101824951G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.753C>T	10.37:g.101824951G>A							p.F251F	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	4	1013	-		Colorectal(252;0.234)	251			Catalytic.		B1AP59	Silent	SNP	ENST00000370418.3	37	c.753C>T	CCDS7486.1																																																																																				0.612	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		45	34	0	0	0	0	45	34				
CHUK	1147	broad.mit.edu	37	10	101982730	101982730	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101982730G>A	ENST00000370397.7	-	3	294	c.208C>T	c.(208-210)Cat>Tat	p.H70Y		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	70	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ACATTGGCATGGTTCAACCTA	0.338																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.(208-210)CAT>TAT		conserved helix-loop-helix ubiquitous kinase							91.0	80.0	84.0					10																	101982730		2203	4300	6503	SO:0001583	missense	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101982730G>A	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.208C>T	10.37:g.101982730G>A	ENSP00000359424:p.His70Tyr						p.H70Y	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	3	263	-		Colorectal(252;0.117)	70			Protein kinase.		O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	c.208C>T	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778332	0.70107	.	.	ENSG00000213341	ENST00000370397	T	0.78707	-1.2	5.31	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094498	0.64402	D	0.000001	D	0.88254	0.6387	H	0.94542	3.55	0.80722	D	1	D	0.58268	0.982	P	0.55713	0.782	D	0.90755	0.4660	10	0.87932	D	0	-15.4365	11.7123	0.51633	0.0848:0.0:0.9152:0.0	.	70	O15111	IKKA_HUMAN	Y	70	ENSP00000359424:H70Y	ENSP00000359424:H70Y	H	-	1	0	CHUK	101972720	1.000000	0.71417	0.992000	0.48379	0.866000	0.49608	6.025000	0.70864	1.483000	0.48342	0.655000	0.94253	CAT		0.338	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		35	18	0	0	0	0	35	18				
SEC31B	25956	broad.mit.edu	37	10	102249490	102249490	+	Silent	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:102249490T>A	ENST00000370345.3	-	22	3091	c.2994A>T	c.(2992-2994)ccA>ccT	p.P998P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	998	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCCTGGGGGCTGGGGCTTCTT	0.468																																						uc001krc.1		NA																	0				ovary(1)	1						c.(2992-2994)CCA>CCT		SEC31 homolog B							77.0	81.0	80.0					10																	102249490		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102249490T>A	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2994A>T	10.37:g.102249490T>A						SEC31B_uc010qpo.1_Silent_p.P997P|SEC31B_uc001krd.1_Silent_p.P535P|SEC31B_uc001krf.1_Silent_p.P430P|SEC31B_uc001kre.1_Silent_p.P430P	p.P998P	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	22	3096	-		Colorectal(252;0.117)	998			Pro-rich.		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.2994A>T	CCDS7495.1																																																																																				0.468	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		14	76	0	0	0	0	14	76				
NOLC1	9221	broad.mit.edu	37	10	103920272	103920272	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:103920272C>T	ENST00000605788.1	+	10	1398	c.1163C>T	c.(1162-1164)tCa>tTa	p.S388L	NOLC1_ENST00000405356.1_Missense_Mutation_p.S398L|NOLC1_ENST00000603742.1_Missense_Mutation_p.S107L|NOLC1_ENST00000488254.2_Missense_Mutation_p.S389L	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	388	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AAGAATTCTTCAAATAAGCCA	0.532																																						uc001kuo.2		NA																	0				ovary(1)	1						c.(1162-1164)TCA>TTA		nucleolar and coiled-body phosphoprotein 1							58.0	61.0	60.0					10																	103920272		2203	4300	6503	SO:0001583	missense	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103920272C>T	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1163C>T	10.37:g.103920272C>T	ENSP00000474710:p.Ser388Leu					NOLC1_uc001kup.2_Missense_Mutation_p.S398L|NOLC1_uc001kuq.2_Missense_Mutation_p.S389L|NOLC1_uc009xxb.1_Missense_Mutation_p.S107L|NOLC1_uc001kur.2_Missense_Mutation_p.S107L	p.S388L	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	10	1398	+		Colorectal(252;0.122)	388			Nuclear localization signal (Potential).|11 X 12 AA approximate repeats of an acidic serine cluster.		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	c.1163C>T	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	C	4.889	0.165236	0.09339	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.31247	1.5	4.01	1.56	0.23342	.	2.244630	0.01544	N	0.019348	T	0.18759	0.0450	N	0.13043	0.29	0.09310	N	0.999997	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.14924	-1.0455	10	0.33141	T	0.24	1.8731	3.1568	0.06506	0.209:0.5086:0.0:0.2824	.	389;398;388	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	L	398;388	ENSP00000385410:S398L	ENSP00000359024:S388L	S	+	2	0	NOLC1	103910262	0.000000	0.05858	0.029000	0.17559	0.016000	0.09150	0.274000	0.18680	0.393000	0.25203	0.655000	0.94253	TCA		0.532	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		25	74	0	0	0	0	25	74				
PSD	5662	broad.mit.edu	37	10	104173829	104173829	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:104173829C>T	ENST00000020673.5	-	5	1776	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.G417D	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	417					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)		ATAGGAGGTGCCTTTGGCCCG	0.622																																						uc001kvg.1		NA																	0				breast(2)|urinary_tract(1)	3						c.(1249-1251)GGC>GAC		pleckstrin and Sec7 domain containing							62.0	67.0	65.0					10																	104173829		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104173829C>T	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.1250G>A	10.37:g.104173829C>T	ENSP00000020673:p.Gly417Asp					PSD_uc001kvh.1_Missense_Mutation_p.G38D|PSD_uc009xxd.1_Missense_Mutation_p.G417D	p.G417D	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	5	1777	-			417					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.1250G>A	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784575	0.90282	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.54479	0.57;0.57	5.47	4.57	0.56435	.	3.705100	0.00357	N	0.000038	T	0.67795	0.2931	L	0.36672	1.1	0.46586	D	0.999117	D	0.69078	0.997	D	0.64595	0.927	T	0.43540	-0.9385	10	0.54805	T	0.06	.	14.1475	0.65360	0.0:0.9276:0.0:0.0724	.	417	A5PKW4	PSD1_HUMAN	D	417;320;417	ENSP00000020673:G417D;ENSP00000384830:G417D	ENSP00000020673:G417D	G	-	2	0	PSD	104163819	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.442000	0.80503	1.336000	0.45506	0.555000	0.69702	GGC		0.622	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			16	45	0	0	0	0	16	45				
TAF5	6877	broad.mit.edu	37	10	105139526	105139526	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105139526C>G	ENST00000369839.3	+	4	1298	c.1275C>G	c.(1273-1275)aaC>aaG	p.N425K	TAF5_ENST00000351396.4_Missense_Mutation_p.N425K	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	425					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CACCTCAGAACAGGTGAGGAA	0.353																																						uc001kwv.2		NA																	0				ovary(2)	2						c.(1273-1275)AAC>AAG		TBP-associated factor 5							64.0	57.0	59.0					10																	105139526		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105139526C>G	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1275C>G	10.37:g.105139526C>G	ENSP00000358854:p.Asn425Lys					TAF5_uc010qqq.1_Missense_Mutation_p.N425K	p.N425K	NM_006951	NP_008882	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	4	1298	+		Colorectal(252;0.0747)|Breast(234;0.128)	425					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.1275C>G	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520904	0.27211	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.56776	0.72;0.44	5.64	3.79	0.43588	WD40/YVTN repeat-like-containing domain (1);	0.084245	0.85682	D	0.000000	T	0.38427	0.1040	L	0.28274	0.84	0.48975	D	0.999734	B;B	0.29716	0.187;0.255	B;B	0.30495	0.116;0.078	T	0.15607	-1.0431	10	0.39692	T	0.17	-15.0191	10.2791	0.43528	0.0:0.7872:0.0:0.2128	.	425;425	Q15542-2;Q15542	.;TAF5_HUMAN	K	425	ENSP00000358854:N425K;ENSP00000311024:N425K	ENSP00000311024:N425K	N	+	3	2	TAF5	105129516	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	0.861000	0.27885	0.729000	0.32403	0.655000	0.94253	AAC		0.353	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			11	32	0	0	0	0	11	32				
SH3PXD2A	9644	broad.mit.edu	37	10	105362544	105362544	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105362544G>A	ENST00000369774.4	-	15	2707	c.2431C>T	c.(2431-2433)Ccc>Tcc	p.P811S	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.P783S|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.P646S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.P678S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	811					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCCTCACTGGGAGCCTCGGAG	0.647																																						uc001kxj.1		NA																	0					0						c.(2347-2349)CCC>TCC		SH3 multiple domains 1							95.0	104.0	101.0					10																	105362544		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362544G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2431C>T	10.37:g.105362544G>A	ENSP00000358789:p.Pro811Ser					SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.P618S|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.P660S|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.P618S|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.P726S	p.P783S	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	14	2487	-		Colorectal(252;0.0815)|Breast(234;0.131)	811					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2347C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.010|0.010	-1.775015|-1.775015	0.00640|0.00640	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.55760|.	0.55;0.57;0.72;0.5|.	4.23|4.23	3.31|3.31	0.37934|0.37934	.|.	0.496761|.	0.20380|.	N|.	0.093462|.	T|T	0.36936|0.36936	0.0985|0.0985	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.0;0.001;0.001;0.0|.	T|T	0.20306|0.20306	-1.0279|-1.0279	10|5	0.16420|.	T|.	0.52|.	-5.2273|-5.2273	8.1631|8.1631	0.31211|0.31211	0.0869:0.1575:0.7556:0.0|0.0869:0.1575:0.7556:0.0	.|.	811;660;656;783|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	S|F	811;783;618;726;678;646|737	ENSP00000358789:P811S;ENSP00000348215:P783S;ENSP00000443663:P678S;ENSP00000441514:P646S|.	ENSP00000318135:P618S|.	P|S	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105352534|105352534	0.889000|0.889000	0.30405|0.30405	0.012000|0.012000	0.15200|0.15200	0.090000|0.090000	0.18270|0.18270	2.512000|2.512000	0.45485|0.45485	0.761000|0.761000	0.33130|0.33130	0.555000|0.555000	0.69702|0.69702	CCC|TCC		0.647	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		33	115	0	0	0	0	33	115				
COL17A1	1308	broad.mit.edu	37	10	105807536	105807537	+	Missense_Mutation	DNP	GG	GG	AA	rs138894227	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105807536_105807537GG>AA	ENST00000353479.5	-	31	2585_2586	c.2295_2296CC>TT	c.(2293-2298)atCCgt>atTTgt	p.R766C	COL17A1_ENST00000369733.3_Missense_Mutation_p.R766C|MIR936_ENST00000401264.1_RNA	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	766	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGTGGGCCACGGATTCCAGGCA	0.51																																						uc001kxr.2		NA																	0				ovary(4)|pancreas(1)	5						c.(2293-2298)ATCCGT>ATTTGT		alpha 1 type XVII collagen																																				SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105807536_105807537GG>AA	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2295_2296delinsAA	10.37:g.105807536_105807537delinsAA	ENSP00000340937:p.Arg766Cys						p.R766C	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	31	2464_2465	-		Colorectal(252;0.103)|Breast(234;0.122)	766			Extracellular (Potential).|Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	DNP	ENST00000353479.5	37	c.2295_2296CC>TT	CCDS7554.1																																																																																				0.510	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		26	24	0	0	0	0	26	24				
SORCS3	22986	broad.mit.edu	37	10	106970961	106970961	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:106970961C>T	ENST00000369701.3	+	17	2555	c.2328C>T	c.(2326-2328)tcC>tcT	p.S776S	SORCS3_ENST00000369699.4_Silent_p.S62S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	776					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCCAGCATCCCCATCAAAGG	0.453																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2326-2328)TCC>TCT		VPS10 domain receptor protein SORCS 3 precursor							115.0	94.0	101.0					10																	106970961		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106970961C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2328C>T	10.37:g.106970961C>T						SORCS3_uc010qqz.1_RNA	p.S776S	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	17	2555	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	776			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2328C>T	CCDS7558.1																																																																																				0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		9	35	0	0	0	0	9	35				
KIAA1598	57698	broad.mit.edu	37	10	118661444	118661444	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:118661444G>A	ENST00000355371.4	-	16	2002	c.1505C>T	c.(1504-1506)tCa>tTa	p.S502L	KIAA1598_ENST00000392901.4_Missense_Mutation_p.S442L|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Missense_Mutation_p.S502L|ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000260777.10_Intron	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	502					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTTGGACTCTGAGGTGGCTAA	0.408																																						uc009xyw.2		NA																	0					0						c.(1504-1506)TCA>TTA		shootin1 isoform a							75.0	66.0	69.0					10																	118661444		1568	3582	5150	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118661444G>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1505C>T	10.37:g.118661444G>A	ENSP00000347532:p.Ser502Leu					KIAA1598_uc001lcz.3_Intron|KIAA1598_uc010qso.1_Missense_Mutation_p.S442L|KIAA1598_uc010qsp.1_Missense_Mutation_p.S502L|KIAA1598_uc010qsq.1_Missense_Mutation_p.S442L|KIAA1598_uc001lcy.3_Missense_Mutation_p.S472L	p.S502L	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	16	2003	-			502					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	c.1505C>T	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415262	0.62511	.	.	ENSG00000187164	ENST00000392903;ENST00000355371;ENST00000392901	.	.	.	6.06	6.06	0.98353	.	0.357652	0.28760	N	0.014238	T	0.52821	0.1758	L	0.51422	1.61	0.40131	D	0.976721	P;P	0.40970	0.607;0.734	B;B	0.38500	0.168;0.275	T	0.55988	-0.8053	9	0.46703	T	0.11	-13.1034	13.778	0.63066	0.0696:0.0:0.9304:0.0	.	502;472	A0MZ66;A0MZ66-6	SHOT1_HUMAN;.	L	502;502;442	.	ENSP00000347532:S502L	S	-	2	0	KIAA1598	118651434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.872000	0.63050	2.871000	0.98454	0.655000	0.94253	TCA		0.408	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		4	25	0	0	0	0	4	25				
WDR11	55717	broad.mit.edu	37	10	122660595	122660596	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:122660595_122660596TG>GT	ENST00000263461.6	+	21	2918_2919	c.2672_2673TG>GT	c.(2671-2673)tTG>tGT	p.L891C	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAAGAACAGTTGAATTCATTGT	0.282																																						uc010qtf.1		NA																	0					0						c.(2671-2673)TTG>TGT		bromodomain and WD repeat domain containing 2																																				SO:0001583	missense	55717					integral to membrane		g.chr10:122660595_122660596TG>GT	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	Exception_encountered	10.37:g.122660595_122660596delinsGT	ENSP00000263461:p.Leu891Cys					WDR11_uc010qte.1_Missense_Mutation_p.L493C|WDR11_uc001lfd.1_Missense_Mutation_p.L409C|WDR11_uc009xzn.2_Missense_Mutation_p.L182C	p.L891C	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			21	2910_2911	+			891					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	DNP	ENST00000263461.6	37	c.2672_2673TG>GT	CCDS7619.1																																																																																				0.282	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			20	55	0	0	0	0	20	55				
WDR11	55717	broad.mit.edu	37	10	122662636	122662637	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:122662636_122662637GG>AA	ENST00000263461.6	+	23	3069_3070	c.2823_2824GG>AA	c.(2821-2826)caGGaa>caAAaa	p.E942K	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCTTATCCCAGGAAAAGTCAGC	0.5																																						uc010qtf.1		NA																	0					0						c.(2821-2826)CAGGAA>CAAAAA		bromodomain and WD repeat domain containing 2																																				SO:0001583	missense	55717					integral to membrane		g.chr10:122662636_122662637GG>AA	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	Exception_encountered	10.37:g.122662636_122662637delinsAA	ENSP00000263461:p.Glu942Lys					WDR11_uc010qte.1_Missense_Mutation_p.E544K|WDR11_uc001lfd.1_Missense_Mutation_p.E460K|WDR11_uc009xzn.2_Missense_Mutation_p.E233K	p.E942K	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			23	3061_3062	+			942					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	DNP	ENST00000263461.6	37	c.2823_2824GG>AA	CCDS7619.1																																																																																				0.500	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			6	37	0	0	0	0	6	37				
DMBT1	1755	broad.mit.edu	37	10	124345745	124345745	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:124345745C>T	ENST00000338354.3	+	16	1735	c.1629C>T	c.(1627-1629)gcC>gcT	p.A543A	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Silent_p.A533A|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Silent_p.A533A|DMBT1_ENST00000368909.3_Silent_p.A543A			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	543	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCATGTTGGCCCCAGGAAATG	0.602																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(1627-1629)GCC>GCT		deleted in malignant brain tumors 1 isoform b							211.0	163.0	179.0					10																	124345745		2033	4157	6190	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124345745C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1629C>T	10.37:g.124345745C>T						DMBT1_uc001lgl.1_Silent_p.A533A|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.A543A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	p.A543A	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			16	1735	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	543			SRCR 4.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.1629C>T																																																																																					0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		62	180	0	0	0	0	62	180				
FAM175B	23172	broad.mit.edu	37	10	126523370	126523370	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:126523370C>T	ENST00000298492.5	+	9	1123	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	360					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						TGACCTTCCTCCTCCCCAAAG	0.488																																						uc001lib.3		NA																	0					0						c.(1078-1080)CCT>TCT		hypothetical protein LOC23172							78.0	75.0	76.0					10																	126523370		2203	4300	6503	SO:0001583	missense	23172					BRISC complex	polyubiquitin binding	g.chr10:126523370C>T	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.1078C>T	10.37:g.126523370C>T	ENSP00000298492:p.Pro360Ser						p.P360S	NM_032182	NP_115558	Q15018	F175B_HUMAN			9	1123	+			360					B4DKR2|Q96H11	Missense_Mutation	SNP	ENST00000298492.5	37	c.1078C>T	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271186	0.23221	.	.	ENSG00000165660	ENST00000298492	T	0.39592	1.07	5.97	5.05	0.67936	.	1.338500	0.04381	N	0.360821	T	0.20901	0.0503	N	0.08118	0	0.28485	N	0.91477	B	0.02656	0.0	B	0.06405	0.002	T	0.43523	-0.9386	10	0.05436	T	0.98	-37.9751	3.7252	0.08472	0.168:0.5685:0.1624:0.1011	.	360	Q15018	F175B_HUMAN	S	360	ENSP00000298492:P360S	ENSP00000298492:P360S	P	+	1	0	FAM175B	126513360	0.087000	0.21565	0.999000	0.59377	0.903000	0.53119	0.280000	0.18790	1.487000	0.48415	0.655000	0.94253	CCT		0.488	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182		16	34	0	0	0	0	16	34				
DPYSL4	10570	broad.mit.edu	37	10	134016234	134016234	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:134016234G>T	ENST00000338492.4	+	12	1530	c.1366G>T	c.(1366-1368)Gac>Tac	p.D456Y	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	456					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGCGCTGGAGGACGGGAAGAT	0.617																																						uc009ybb.2		NA																	0				central_nervous_system(2)	2						c.(1366-1368)GAC>TAC		dihydropyrimidinase-like 4							79.0	79.0	79.0					10																	134016234		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134016234G>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1366G>T	10.37:g.134016234G>T	ENSP00000339850:p.Asp456Tyr						p.D456Y	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	12	1520	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	456					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.1366G>T	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915873	0.33815	.	.	ENSG00000151640	ENST00000338492	T	0.76316	-1.01	4.13	3.22	0.36961	Metal-dependent hydrolase, composite domain (1);	0.174584	0.47455	D	0.000221	T	0.80783	0.4689	M	0.79805	2.47	0.80722	D	1	D	0.56521	0.976	P	0.47864	0.559	T	0.82792	-0.0282	10	0.66056	D	0.02	-23.8328	11.7765	0.51989	0.086:0.0:0.914:0.0	.	456	O14531	DPYL4_HUMAN	Y	456	ENSP00000339850:D456Y	ENSP00000339850:D456Y	D	+	1	0	DPYSL4	133866224	1.000000	0.71417	0.965000	0.40720	0.274000	0.26718	4.261000	0.58841	0.946000	0.37632	0.456000	0.33151	GAC		0.617	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			40	28	1	0	6.46e-13	6.66e-13	40	28				
DPYSL4	10570	broad.mit.edu	37	10	134016249	134016249	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:134016249G>T	ENST00000338492.4	+	12	1545	c.1381G>T	c.(1381-1383)Gtc>Ttc	p.V461F	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	461					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GAAGATGTTTGTCACCCCGGG	0.622																																						uc009ybb.2		NA																	0				central_nervous_system(2)	2						c.(1381-1383)GTC>TTC		dihydropyrimidinase-like 4							74.0	77.0	76.0					10																	134016249		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134016249G>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1381G>T	10.37:g.134016249G>T	ENSP00000339850:p.Val461Phe						p.V461F	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	12	1535	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	461					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.1381G>T	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894213	0.52121	.	.	ENSG00000151640	ENST00000338492	T	0.74421	-0.84	4.13	4.13	0.48395	Metal-dependent hydrolase, composite domain (1);	0.310318	0.28927	N	0.013691	T	0.81498	0.4835	M	0.87097	2.86	0.80722	D	1	B	0.32051	0.354	B	0.39503	0.301	D	0.85246	0.1041	10	0.87932	D	0	-15.7634	16.6514	0.85203	0.0:0.0:1.0:0.0	.	461	O14531	DPYL4_HUMAN	F	461	ENSP00000339850:V461F	ENSP00000339850:V461F	V	+	1	0	DPYSL4	133866239	0.995000	0.38212	0.546000	0.28166	0.025000	0.11179	7.292000	0.78731	2.131000	0.65755	0.456000	0.33151	GTC		0.622	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			26	47	1	0	7.38e-10	7.58e-10	26	47				
GPR123	84435	broad.mit.edu	37	10	134942170	134942170	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:134942170G>A	ENST00000392607.3	+	7	1274	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	GPR123_ENST00000607359.1_Missense_Mutation_p.G999S|GPR123_ENST00000392606.2_Missense_Mutation_p.G183S	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	280					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GGTGTCACAGGGCCACTTCCT	0.652																																						uc001llx.3		NA																	0					0						c.(838-840)GGC>AGC		G protein-coupled receptor 123							32.0	24.0	27.0					10																	134942170		2195	4292	6487	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942170G>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.838G>A	10.37:g.134942170G>A	ENSP00000376384:p.Gly280Ser					GPR123_uc001llw.2_Missense_Mutation_p.G999S	p.G280S	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	7	1274	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	280			Extracellular (Potential).		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.838G>A	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	17.67	3.447529	0.63178	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.40476	1.03	4.74	4.74	0.60224	GPCR, family 2-like (1);	0.209777	0.33110	N	0.005267	T	0.46908	0.1417	L	0.50333	1.59	0.58432	D	0.999995	B;P	0.36027	0.11;0.533	B;B	0.44044	0.292;0.439	T	0.45991	-0.9223	10	0.45353	T	0.12	-27.9172	15.589	0.76510	0.0:0.0:1.0:0.0	.	280;999	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	S	999;280;184	ENSP00000376384:G280S	ENSP00000357566:G999S	G	+	1	0	GPR123	134792160	1.000000	0.71417	0.987000	0.45799	0.617000	0.37484	6.142000	0.71750	2.359000	0.80004	0.561000	0.74099	GGC		0.652	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			18	8	0	0	0	0	18	8				
SYCE1	93426	broad.mit.edu	37	10	135369503	135369503	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:135369503C>T	ENST00000343131.5	-	9	681	c.577G>A	c.(577-579)Gag>Aag	p.E193K	SYCE1_ENST00000368517.3_Missense_Mutation_p.E157K|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.E157K	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	193					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGCAGCTGCTCCTTGCTGCTG	0.582																																						uc001lno.2		NA																	0				ovary(1)	1						c.(577-579)GAG>AAG		synaptonemal complex central element protein 1							145.0	120.0	128.0					10																	135369503		2203	4300	6503	SO:0001583	missense	93426				cell division	central element		g.chr10:135369503C>T	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.577G>A	10.37:g.135369503C>T	ENSP00000341282:p.Glu193Lys					CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.E65K|SYCE1_uc009ybn.2_Missense_Mutation_p.E193K|SYCE1_uc001lnn.2_Missense_Mutation_p.E157K	p.E193K	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	9	682	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	193			Potential.		B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.577G>A	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730533	0.69074	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.53640	1.14;0.61;0.61;1.14	4.38	4.38	0.52667	.	0.191288	0.37304	N	0.002159	T	0.61489	0.2351	L	0.53249	1.67	0.33567	D	0.598098	P;D;D	0.71674	0.93;0.998;0.996	P;D;D	0.80764	0.636;0.994;0.99	T	0.69375	-0.5162	10	0.51188	T	0.08	-8.7172	12.7516	0.57312	0.0:1.0:0.0:0.0	.	65;193;157	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	K	193;157;157;193	ENSP00000303978:E193K;ENSP00000411779:E157K;ENSP00000357503:E157K;ENSP00000341282:E193K	ENSP00000303978:E193K	E	-	1	0	SYCE1	135219493	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	2.716000	0.47219	2.726000	0.93360	0.655000	0.94253	GAG		0.582	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		24	53	0	0	0	0	24	53				
ANO9	338440	broad.mit.edu	37	11	432045	432045	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:432045G>A	ENST00000332826.6	-	5	444	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	120					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TCACGATTCGGATTCTGAGAC	0.637																																						uc001lpi.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(358-360)ATC>ATT		tumor protein p53 inducible protein 5							73.0	61.0	65.0					11																	432045		2203	4299	6502	SO:0001819	synonymous_variant	338440					chloride channel complex	chloride channel activity	g.chr11:432045G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.360C>T	11.37:g.432045G>A						ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_5'UTR	p.I120I	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			5	445	-			120			Cytoplasmic (Potential).		B3KUC4|B4E134|Q8TEN4	Silent	SNP	ENST00000332826.6	37	c.360C>T	CCDS31326.1																																																																																				0.637	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		8	45	0	0	0	0	8	45				
PHRF1	57661	broad.mit.edu	37	11	607230	607230	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:607230C>T	ENST00000264555.5	+	14	1902	c.1774C>T	c.(1774-1776)Ccc>Tcc	p.P592S	PHRF1_ENST00000533464.1_Missense_Mutation_p.P588S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P591S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P590S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	592					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTCCCGCACCCCCGCCCGCAC	0.701																																						uc001lqe.2		NA																	0					0						c.(1774-1776)CCC>TCC		PHD and ring finger domains 1							32.0	37.0	35.0					11																	607230		1851	4091	5942	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:607230C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1774C>T	11.37:g.607230C>T	ENSP00000264555:p.Pro592Ser					PHRF1_uc010qwc.1_Missense_Mutation_p.P591S|PHRF1_uc010qwd.1_Missense_Mutation_p.P590S|PHRF1_uc010qwe.1_Missense_Mutation_p.P588S|PHRF1_uc009ybz.1_Missense_Mutation_p.P382S|PHRF1_uc009yca.1_RNA	p.P592S	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	1905	+			592					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1774C>T		.	.	.	.	.	.	.	.	.	.	C	15.20	2.761470	0.49468	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.80304	-1.35;-1.35;-1.36;-1.36	4.69	2.83	0.33086	.	0.185387	0.26463	N	0.024221	T	0.77274	0.4106	L	0.48642	1.525	0.40735	D	0.982785	B;B;B;B	0.30709	0.192;0.291;0.291;0.192	B;B;B;B	0.40602	0.18;0.334;0.334;0.18	T	0.74940	-0.3493	10	0.66056	D	0.02	-7.3016	8.611	0.33801	0.0:0.8119:0.0:0.1881	.	588;590;591;592	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	592;590;591;588	ENSP00000264555:P592S;ENSP00000388589:P590S;ENSP00000410626:P591S;ENSP00000431870:P588S	ENSP00000264555:P592S	P	+	1	0	PHRF1	597230	0.015000	0.18098	0.106000	0.21319	0.570000	0.35934	1.002000	0.29796	0.602000	0.29896	0.462000	0.41574	CCC		0.701	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		19	27	0	0	0	0	19	27				
MUC6	4588	broad.mit.edu	37	11	1018644	1018644	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1018644G>T	ENST00000421673.2	-	31	4207	c.4157C>A	c.(4156-4158)aCa>aAa	p.T1386K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1386	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGTCTCTGTGGCTGTGGG	0.627																																						uc001lsw.2		NA																	0				ovary(1)	1						c.(4156-4158)ACA>AAA		mucin 6, gastric							173.0	200.0	191.0					11																	1018644		2154	4260	6414	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1018644G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4157C>A	11.37:g.1018644G>T	ENSP00000406861:p.Thr1386Lys						p.T1386K	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4208	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1386			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.4157C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	g	3.145	-0.175455	0.06421	.	.	ENSG00000184956	ENST00000421673	T	0.20200	2.09	1.13	0.0416	0.14213	.	.	.	.	.	T	0.10078	0.0247	N	0.14661	0.345	0.09310	N	1	B	0.18310	0.027	B	0.06405	0.002	T	0.29579	-1.0007	9	0.37606	T	0.19	.	4.1931	0.10430	0.0:0.0:0.6026:0.3974	.	1386	Q6W4X9	MUC6_HUMAN	K	1386	ENSP00000406861:T1386K	ENSP00000406861:T1386K	T	-	2	0	MUC6	1008644	0.003000	0.15002	0.000000	0.03702	0.128000	0.20619	0.955000	0.29188	0.017000	0.15025	0.298000	0.19748	ACA		0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		38	175	1	0	9.63e-15	9.96e-15	38	175				
MUC5AC	4586	broad.mit.edu	37	11	1156179	1156180	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1156179_1156180CC>TT	ENST00000356191.2	+	6	502_503	c.502_503CC>TT	c.(502-504)CCt>TTt	p.P168F				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	0	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		AGTCTGGGGTCCTCATTCAGCA	0.653																																						uc009ycr.1		NA																	0					0						c.(502-507)GTCCTC>GTTTTC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;																																				SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1156179_1156180CC>TT	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	Exception_encountered	11.37:g.1156179_1156180delinsTT	ENSP00000348519:p.Pro168Phe						p.L169F	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	6	630_631	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	165			VWFD 1.		O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	DNP	ENST00000356191.2	37	c.504_505CC>TT																																																																																					0.653	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		7	44	0	0	0	0	7	44				
KRTAP5-4	387267	broad.mit.edu	37	11	1643015	1643015	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1643015G>A	ENST00000399682.1	-	1	353	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCCCCACAGGAGCCACAGC	0.682																																						uc009ycy.1		NA																	0					0						c.(445-447)TCC>TCT		keratin associated protein 5-4							6.0	13.0	11.0					11																	1643015		631	1485	2116	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643015G>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.309C>T	11.37:g.1643015G>A							p.S149S	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	534	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	163			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.447C>T																																																																																					0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		7	170	0	0	0	0	7	170				
KRTAP5-4	387267	broad.mit.edu	37	11	1643054	1643054	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1643054G>A	ENST00000399682.1	-	1	314	c.270C>T	c.(268-270)ggC>ggT	p.G90G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGACACAGCCCCCCTTGG	0.672																																						uc009ycy.1		NA																	0					0						c.(406-408)GGC>GGT		keratin associated protein 5-4							9.0	14.0	13.0					11																	1643054		683	1581	2264	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643054G>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.270C>T	11.37:g.1643054G>A							p.G136G	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	495	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	150			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.408C>T																																																																																					0.672	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		17	116	0	0	0	0	17	116				
SYT8	90019	broad.mit.edu	37	11	1856328	1856328	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1856328G>A	ENST00000381968.3	+	2	163	c.35G>A	c.(34-36)gGt>gAt	p.G12D	SYT8_ENST00000341958.3_5'UTR|SYT8_ENST00000436964.2_5'UTR|SYT8_ENST00000535046.1_Missense_Mutation_p.G150D	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	12					acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCAGCAGGGTAGAAAGATG	0.667																																						uc001lue.1		NA																	0				ovary(1)	1						c.(34-36)GGT>GAT		synaptotagmin VIII							35.0	42.0	39.0					11																	1856328		2202	4299	6501	SO:0001583	missense	90019					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity	g.chr11:1856328G>A	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.35G>A	11.37:g.1856328G>A	ENSP00000371394:p.Gly12Asp					SYT8_uc010qxb.1_5'UTR|SYT8_uc001lud.2_Missense_Mutation_p.G12D|SYT8_uc001luf.1_5'UTR|SYT8_uc009ydb.1_5'UTR	p.G12D	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	2	163	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	12			Extracellular (Potential).		A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	c.35G>A	CCDS7726.2	.	.	.	.	.	.	.	.	.	.	g	13.75	2.331626	0.41297	.	.	ENSG00000149043	ENST00000535046;ENST00000381968	T;T	0.21361	2.01;2.85	2.81	-0.147	0.13428	.	.	.	.	.	T	0.13884	0.0336	L	0.36672	1.1	0.09310	N	0.999992	B	0.17038	0.02	B	0.12837	0.008	T	0.33979	-0.9847	9	0.22706	T	0.39	.	6.5419	0.22385	0.3541:0.0:0.6459:0.0	.	12	Q8NBV8	SYT8_HUMAN	D	150;12	ENSP00000443325:G150D;ENSP00000371394:G12D	ENSP00000371394:G12D	G	+	2	0	SYT8	1812904	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.442000	0.21628	-0.017000	0.14103	-0.704000	0.03662	GGT		0.667	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			7	32	0	0	0	0	7	32				
TSSC4	10078	broad.mit.edu	37	11	2428000	2428000	+	IGR	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:2428000C>T	ENST00000333256.6	+	0	1686				TRPM5_ENST00000452833.1_Missense_Mutation_p.D1050N|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Missense_Mutation_p.D1048N|TRPM5_ENST00000155858.6_Missense_Mutation_p.D1048N|TRPM5_ENST00000533060.1_Missense_Mutation_p.D1048N			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4											endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCTTCTGGTCCAGGGGGTCT	0.627																																						uc001lwm.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(3142-3144)GAC>AAC		transient receptor potential cation channel,							67.0	67.0	67.0					11																	2428000		2202	4299	6501	SO:0001628	intergenic_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2428000C>T	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895		11.37:g.2428000C>T						TRPM5_uc010qxl.1_Missense_Mutation_p.D1048N|TRPM5_uc009ydn.2_Missense_Mutation_p.D1050N	p.D1048N	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	21	3151	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	1048			Cytoplasmic (Potential).		C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.3142G>A	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933037	0.73442	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.61627	0.24;0.18;0.18;0.09;0.18	3.96	3.96	0.45880	.	0.059027	0.64402	D	0.000003	T	0.69287	0.3094	L	0.55481	1.735	0.51767	D	0.999937	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.69142	0.96;0.96;0.962	T	0.72151	-0.4377	10	0.56958	D	0.05	-32.2155	13.8992	0.63792	0.0:1.0:0.0:0.0	.	1048;1050;1048	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	N	1042;1048;1050;1048;1048	ENSP00000434383:D1042N;ENSP00000155858:D1048N;ENSP00000387965:D1050N;ENSP00000434121:D1048N;ENSP00000436809:D1048N	ENSP00000155858:D1048N	D	-	1	0	TRPM5	2384576	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	6.666000	0.74446	1.936000	0.56123	0.561000	0.74099	GAC		0.627	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		13	57	0	0	0	0	13	57				
OSBPL5	114879	broad.mit.edu	37	11	3109443	3109443	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:3109443G>A	ENST00000263650.7	-	22	2791	c.2632C>T	c.(2632-2634)Ctc>Ttc	p.L878F	OSBPL5_ENST00000525498.1_Missense_Mutation_p.L789F|OSBPL5_ENST00000478260.1_Missense_Mutation_p.L332F|OSBPL5_ENST00000348039.5_Missense_Mutation_p.L810F|OSBPL5_ENST00000389989.3_Missense_Mutation_p.L810F|OSBPL5_ENST00000542243.1_Missense_Mutation_p.L509F	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	878					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCCTATTTGAGGATGTGGTTA	0.642																																						uc001lxk.2		NA																	0				large_intestine(2)|central_nervous_system(1)	3						c.(2632-2634)CTC>TTC		oxysterol-binding protein-like protein 5 isoform							46.0	53.0	51.0					11																	3109443		2202	4298	6500	SO:0001583	missense	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3109443G>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2632C>T	11.37:g.3109443G>A	ENSP00000263650:p.Leu878Phe					OSBPL5_uc010qxq.1_Missense_Mutation_p.L789F|OSBPL5_uc009ydw.2_Missense_Mutation_p.L810F|OSBPL5_uc001lxl.2_Missense_Mutation_p.L810F|OSBPL5_uc001lxj.2_Missense_Mutation_p.L332F	p.L878F	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	22	2790	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	878					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	c.2632C>T	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	G	6.515	0.463269	0.12402	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039	T;T;T;T;T;T;T	0.40476	1.28;1.63;1.67;1.09;1.68;1.03;1.67	4.77	2.73	0.32206	.	0.000000	0.28533	N	0.015008	T	0.20047	0.0482	N	0.24115	0.695	0.29618	N	0.846391	B;B;B	0.15719	0.009;0.001;0.014	B;B;B	0.18561	0.011;0.004;0.022	T	0.25847	-1.0120	10	0.02654	T	1	-4.4348	4.5623	0.12166	0.3615:0.0:0.6385:0.0	.	789;810;878	B4DVB0;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	F	332;878;810;431;789;509;810	ENSP00000437141:L332F;ENSP00000263650:L878F;ENSP00000374639:L810F;ENSP00000431412:L431F;ENSP00000433342:L789F;ENSP00000441551:L509F;ENSP00000302872:L810F	ENSP00000263650:L878F	L	-	1	0	OSBPL5	3066019	1.000000	0.71417	0.954000	0.39281	0.923000	0.55619	2.498000	0.45363	1.230000	0.43646	0.561000	0.74099	CTC		0.642	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			7	19	0	0	0	0	7	19				
ART1	417	broad.mit.edu	37	11	3681448	3681448	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:3681448C>T	ENST00000250693.1	+	3	800	c.699C>T	c.(697-699)tcC>tcT	p.S233S		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	233					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		AGGGCTACTCCTTCTTCCCTG	0.597																																						uc001lye.1		NA																	0					0						c.(697-699)TCC>TCT		ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)						48.0	48.0	48.0					11																	3681448		2201	4298	6499	SO:0001819	synonymous_variant	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681448C>T	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.699C>T	11.37:g.3681448C>T						ART1_uc009yeb.1_Silent_p.S233S	p.S233S	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	800	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	233				NAD (By similarity).	Q6NTD2|Q96KT9	Silent	SNP	ENST00000250693.1	37	c.699C>T	CCDS7744.1																																																																																				0.597	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		9	38	0	0	0	0	9	38				
PGAP2	27315	broad.mit.edu	37	11	3838688	3838688	+	Intron	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:3838688C>T	ENST00000463452.2	+	2	248				PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000278243.4_Missense_Mutation_p.P91S|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.P91S|PGAP2_ENST00000532017.1_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000493547.2_Intron	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2						GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CATCACTTTTCCTGTGTTCGG	0.602																																						uc001lys.2		NA																	0					0						c.(271-273)CCT>TCT		FGF receptor activating protein 1 isoform 1							159.0	142.0	148.0					11																	3838688		2201	4298	6499	SO:0001627	intron_variant	27315				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity	g.chr11:3838688C>T	AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.165+6034C>T	11.37:g.3838688C>T						PGAP2_uc001lyl.2_Intron|PGAP2_uc010qxw.1_Missense_Mutation_p.P148S|PGAP2_uc010qxx.1_Intron|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Intron|PGAP2_uc010qxz.1_Intron|PGAP2_uc001lyn.3_Intron|PGAP2_uc010qya.1_Intron|PGAP2_uc001lyr.2_Intron|PGAP2_uc010qyb.1_Intron|PGAP2_uc001lyt.2_Intron	p.P91S	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN			3	397	+			91			Helical; (Potential).		E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	c.271C>T	CCDS58112.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192255	0.78902	.	.	ENSG00000148985	ENST00000396991;ENST00000278243;ENST00000502872	T;T	0.40756	1.02;1.02	5.39	5.39	0.77823	.	0.220853	0.31312	N	0.007878	T	0.65481	0.2695	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65578	-0.6134	10	0.38643	T	0.18	-16.7172	14.6497	0.68786	0.0:1.0:0.0:0.0	.	91	Q9UHJ9	PGAP2_HUMAN	S	91;91;31	ENSP00000380188:P91S;ENSP00000278243:P91S	ENSP00000278243:P91S	P	+	1	0	PGAP2	3795264	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	2.741000	0.47426	2.503000	0.84419	0.650000	0.86243	CCT		0.602	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1			14	57	0	0	0	0	14	57				
STIM1	6786	broad.mit.edu	37	11	4095781	4095781	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:4095781C>T	ENST00000300737.4	+	7	1410	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	STIM1_ENST00000527651.1_Missense_Mutation_p.H281Y|STIM1_ENST00000533977.1_Missense_Mutation_p.H108Y	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	281	Glu-rich.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGAGAAGGTCCATCTGGAAAA	0.637																																						uc001lyv.2		NA																	0				pancreas(1)	1						c.(841-843)CAT>TAT		stromal interaction molecule 1 precursor							63.0	56.0	58.0					11																	4095781		2201	4298	6499	SO:0001583	missense	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4095781C>T	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.841C>T	11.37:g.4095781C>T	ENSP00000300737:p.His281Tyr					STIM1_uc009yef.2_Missense_Mutation_p.H281Y|STIM1_uc009yeg.2_Missense_Mutation_p.H108Y	p.H281Y	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	7	1409	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	281			Cytoplasmic (Potential).|Glu-rich.|Potential.		E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	c.841C>T	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502179	0.85176	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	T;T;T	0.77098	-0.08;-1.07;-0.07	5.44	5.44	0.79542	.	0.093323	0.64402	D	0.000001	T	0.62085	0.2399	N	0.14661	0.345	0.49687	D	0.999818	P;P	0.41450	0.75;0.75	B;B	0.31390	0.091;0.129	T	0.70813	-0.4770	10	0.87932	D	0	-23.8081	17.8428	0.88720	0.0:1.0:0.0:0.0	.	281;281	E9PQJ4;Q13586	.;STIM1_HUMAN	Y	281;281;108	ENSP00000300737:H281Y;ENSP00000436208:H281Y;ENSP00000434767:H108Y	ENSP00000300737:H281Y	H	+	1	0	STIM1	4052357	0.005000	0.15991	1.000000	0.80357	0.997000	0.91878	0.279000	0.18771	2.560000	0.86352	0.655000	0.94253	CAT		0.637	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		10	14	0	0	0	0	10	14				
C11orf40	143501	broad.mit.edu	37	11	4594552	4594552	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:4594552G>A	ENST00000307616.1	-	2	291	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	98										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTAAAGCAAGGTCTTTTGTCA	0.488																																						uc010qyg.1		NA																	0				ovary(2)	2						c.(292-294)CCT>TCT		hypothetical protein LOC143501							221.0	180.0	194.0					11																	4594552		2201	4298	6499	SO:0001583	missense	143501							g.chr11:4594552G>A		CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.292C>T	11.37:g.4594552G>A	ENSP00000302918:p.Pro98Ser						p.P98S	NM_144663	NP_653264	Q8WZ69	CK040_HUMAN		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	292	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	98						Missense_Mutation	SNP	ENST00000307616.1	37	c.292C>T	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	G	8.017	0.758701	0.15846	.	.	ENSG00000171987	ENST00000307616	T	0.56611	0.45	1.45	1.45	0.22620	.	.	.	.	.	T	0.41050	0.1142	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.54889	0.763	T	0.20840	-1.0263	9	0.87932	D	0	.	6.3278	0.21253	0.0:0.0:1.0:0.0	.	98	Q8WZ69	CK040_HUMAN	S	98	ENSP00000302918:P98S	ENSP00000302918:P98S	P	-	1	0	C11orf40	4551128	0.002000	0.14202	0.001000	0.08648	0.022000	0.10575	0.185000	0.16958	1.130000	0.42092	0.411000	0.27672	CCT		0.488	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		32	113	0	0	0	0	32	113				
MMP26	56547	broad.mit.edu	37	11	5012647	5012647	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:5012647C>T	ENST00000380390.1	+	5	732	c.516C>T	c.(514-516)ggC>ggT	p.G172G	MMP26_ENST00000300762.1_Silent_p.G172G			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	172					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GTATCTTAGGCCATGCCTTTT	0.478																																						uc001lzv.2		NA																	0					0						c.(514-516)GGC>GGT		matrix metalloproteinase 26 preproprotein							224.0	216.0	219.0					11																	5012647		2201	4298	6499	SO:0001819	synonymous_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5012647C>T	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.516C>T	11.37:g.5012647C>T							p.G172G	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	534	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	172					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.516C>T	CCDS7752.1																																																																																				0.478	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		58	184	0	0	0	0	58	184				
Unknown	0	broad.mit.edu	37	11	5989386	5989386	+	IGR	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:5989386C>T								OR56A3 (19795 upstream) : OR52L1 (17735 downstream)																							TGCAGGACTCCATAGTCAGAA	0.493																																						uc010qzu.1		NA																	0					0						c.(337-339)ATG>ATA		olfactory receptor, family 56, subfamily A,							72.0	65.0	67.0					11																	5989386		692	1591	2283	SO:0001628	intergenic_variant	390084					integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5989386C>T																													11.37:g.5989386C>T							p.M113I	NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN			1	339	-			113			Helical; Name=3; (Potential).			Missense_Mutation	SNP		37	c.339G>A																																																																																				0	0.493									5	32	0	0	0	0	5	32				
Unknown	0	broad.mit.edu	37	11	5989583	5989583	+	IGR	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:5989583G>A								OR56A3 (19992 upstream) : OR52L1 (17538 downstream)																							GTGATCAGAAGGGTGGCATTG	0.577																																						uc010qzu.1		NA																	0					0						c.(142-144)CTT>TTT		olfactory receptor, family 56, subfamily A,							79.0	83.0	82.0					11																	5989583		692	1591	2283	SO:0001628	intergenic_variant	390084					integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5989583G>A																													11.37:g.5989583G>A							p.L48F	NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN			1	142	-			48			Helical; Name=1; (Potential).			Missense_Mutation	SNP		37	c.142C>T																																																																																				0	0.577									6	35	0	0	0	0	6	35				
OR52L1	338751	broad.mit.edu	37	11	6007757	6007757	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6007757G>A	ENST00000332249.4	-	1	458	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGCCATGGCCACAAGTAC	0.537																																					Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(403-405)GCC>GTC		olfactory receptor, family 52, subfamily L,							43.0	44.0	44.0					11																	6007757		2088	4230	6318	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007757G>A	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.404C>T	11.37:g.6007757G>A	ENSP00000330338:p.Ala135Val						p.A135V	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	459	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	135			Helical; Name=3; (Potential).		B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.404C>T	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122047	0.56613	.	.	ENSG00000183313	ENST00000332249	T	0.01572	4.76	3.5	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001071	T	0.04770	0.0129	N	0.25825	0.765	0.31706	N	0.640108	D	0.69078	0.997	D	0.75020	0.985	T	0.20009	-1.0288	10	0.51188	T	0.08	.	13.9062	0.63836	0.0:0.0:1.0:0.0	.	135	Q8NGH7	O52L1_HUMAN	V	135	ENSP00000330338:A135V	ENSP00000330338:A135V	A	-	2	0	OR52L1	5964333	0.044000	0.20184	1.000000	0.80357	0.853000	0.48598	1.267000	0.33050	1.662000	0.50781	0.313000	0.20887	GCC		0.537	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		5	19	0	0	0	0	5	19				
OR56A1	120796	broad.mit.edu	37	11	6048186	6048186	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6048186G>A	ENST00000316650.5	-	1	785	c.749C>T	c.(748-750)tCc>tTc	p.S250F		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	250						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGAAGTGGGAGCCACATGT	0.498																																						uc010qzw.1		NA																	0				ovary(2)|breast(1)	3						c.(748-750)TCC>TTC		olfactory receptor, family 56, subfamily A,							68.0	66.0	66.0					11																	6048186		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048186G>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.749C>T	11.37:g.6048186G>A	ENSP00000321246:p.Ser250Phe						p.S250F	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	749	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	250			Helical; Name=6; (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.749C>T	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937854	0.73557	.	.	ENSG00000180934	ENST00000316650	T	0.39056	1.1	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000724	T	0.74268	0.3694	H	0.95539	3.685	0.37587	D	0.920039	D	0.89917	1.0	D	0.97110	1.0	D	0.85268	0.1054	10	0.87932	D	0	.	15.7761	0.78220	0.0:0.0:1.0:0.0	.	250	Q8NGH5	O56A1_HUMAN	F	250	ENSP00000321246:S250F	ENSP00000321246:S250F	S	-	2	0	OR56A1	6004762	1.000000	0.71417	0.901000	0.35422	0.848000	0.48234	7.778000	0.85637	2.361000	0.80049	0.655000	0.94253	TCC		0.498	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		10	56	0	0	0	0	10	56				
TRIM3	10612	broad.mit.edu	37	11	6472240	6472240	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6472240G>A	ENST00000525074.1	-	9	2146	c.1752C>T	c.(1750-1752)gaC>gaT	p.D584D	TRIM3_ENST00000359518.3_Silent_p.D584D|TRIM3_ENST00000345851.3_Silent_p.D584D|TRIM3_ENST00000536344.1_Silent_p.D465D|TRIM3_ENST00000537602.1_Silent_p.D506D	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	584					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCATTCCGGTCTACGGCCA	0.547																																					Melanoma(6;5 510 1540 25169 29084)	uc001mdh.2		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(1750-1752)GAC>GAT		tripartite motif-containing 3							62.0	58.0	60.0					11																	6472240		2201	4296	6497	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6472240G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1752C>T	11.37:g.6472240G>A						TRIM3_uc001mdi.2_Silent_p.D584D|TRIM3_uc010raj.1_Silent_p.D465D|TRIM3_uc009yfd.2_Silent_p.D584D|TRIM3_uc010rak.1_Silent_p.D584D	p.D584D	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	10	2139	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	584			NHL 3.		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.1752C>T	CCDS7764.1																																																																																				0.547	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		15	44	0	0	0	0	15	44				
TRIM3	10612	broad.mit.edu	37	11	6477752	6477752	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6477752C>T	ENST00000525074.1	-	6	1598	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M	TRIM3_ENST00000359518.3_Missense_Mutation_p.V402M|TRIM3_ENST00000345851.3_Missense_Mutation_p.V402M|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000536344.1_Missense_Mutation_p.V283M|TRIM3_ENST00000537602.1_Missense_Mutation_p.V324M	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	402					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGAGCAGCACCGAGAGGAGC	0.677																																					Melanoma(6;5 510 1540 25169 29084)	uc001mdh.2		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(1204-1206)GTG>ATG		tripartite motif-containing 3							21.0	19.0	19.0					11																	6477752		2198	4285	6483	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6477752C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1204G>A	11.37:g.6477752C>T	ENSP00000433102:p.Val402Met					TRIM3_uc001mdi.2_Missense_Mutation_p.V402M|TRIM3_uc010raj.1_Missense_Mutation_p.V283M|TRIM3_uc009yfd.2_Missense_Mutation_p.V402M|TRIM3_uc010rak.1_Missense_Mutation_p.V402M|TRIM3_uc001mdj.2_Missense_Mutation_p.V283M	p.V402M	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1591	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	402			Filamin.		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.1204G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078451	0.55753	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74	4.99	4.99	0.66335	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.210180	0.41001	D	0.000965	D	0.95050	0.8397	M	0.89658	3.05	0.47374	D	0.999405	P;D;P	0.53151	0.811;0.958;0.924	P;P;P	0.61201	0.476;0.885;0.781	D	0.94863	0.8023	10	0.46703	T	0.11	-15.6773	11.6331	0.51187	0.0:0.8201:0.1799:0.0	.	283;283;402	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	M	402;402;402;402;391;324;402;283	ENSP00000433102:V402M;ENSP00000340797:V402M;ENSP00000441091:V324M;ENSP00000352508:V402M;ENSP00000445460:V283M	ENSP00000337094:V391M	V	-	1	0	TRIM3	6434328	0.082000	0.21442	0.951000	0.38953	0.867000	0.49689	0.398000	0.20899	2.309000	0.77851	0.563000	0.77884	GTG		0.677	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		5	14	0	0	0	0	5	14				
DNHD1	144132	broad.mit.edu	37	11	6591316	6591316	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6591316T>G	ENST00000527990.2	+	38	12941	c.12941T>G	c.(12940-12942)aTg>aGg	p.M4314R	DNHD1_ENST00000254579.6_Missense_Mutation_p.M4314R			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4314					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGTGCTGCCATGCAAGAGCTG	0.572																																						uc001mdw.3		NA																	0				ovary(2)	2						c.(12940-12942)ATG>AGG		dynein heavy chain domain 1 isoform 1							79.0	78.0	78.0					11																	6591316		1964	4169	6133	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6591316T>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12941T>G	11.37:g.6591316T>G	ENSP00000436180:p.Met4314Arg					DNHD1_uc001mea.3_Missense_Mutation_p.M583R|DNHD1_uc001meb.2_Missense_Mutation_p.M582R|DNHD1_uc001mec.2_Missense_Mutation_p.M582R|DNHD1_uc010rao.1_Missense_Mutation_p.M572R|DNHD1_uc009yfg.2_5'UTR	p.M4314R	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	40	13505	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4314					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.12941T>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668032	0.47677	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.08720	3.06;3.06	5.39	5.39	0.77823	Dynein heavy chain (1);	0.402309	0.26442	N	0.024342	T	0.13072	0.0317	L	0.44542	1.39	0.28775	N	0.900137	P;P;P;P	0.48998	0.918;0.838;0.918;0.918	P;B;P;P	0.49140	0.601;0.276;0.601;0.601	T	0.02705	-1.1121	10	0.87932	D	0	-5.1162	11.7976	0.52108	0.0:0.0:0.0:1.0	.	3402;582;367;4314	B0I1S4;D3DQT9;Q9NSW8;Q96M86	.;.;.;DNHD1_HUMAN	R	4314;4314;582;582	ENSP00000254579:M4314R;ENSP00000436180:M4314R	ENSP00000254579:M4314R	M	+	2	0	DNHD1	6547892	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.436000	0.44819	2.027000	0.59764	0.533000	0.62120	ATG		0.572	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		17	58	0	0	0	0	17	58				
OVCH2	341277	broad.mit.edu	37	11	7718105	7718106	+	RNA	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:7718105_7718106CC>TT	ENST00000533663.1	-	0	0				OVCH2_ENST00000454689.1_RNA|OVCH2_ENST00000534193.2_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ACATGCATTTCCTCTGGTACCA	0.475																																						uc010rbf.1		NA																	0					0						c.(1045-1050)GAGGAA>GAAAAA		ovochymase 2 precursor																																						341277							g.chr11:7718105_7718106CC>TT	BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"""ovochymase 2"""			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418	Exception_encountered	11.37:g.7718105_7718106delinsTT							p.E350K	NM_198185	NP_937828				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)	10	1047_1048	-									Missense_Mutation	DNP	ENST00000533663.1	37	c.1047_1048GG>AA																																																																																					0.475	OVCH2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000383928.1	NM_198185		11	43	0	0	0	0	11	43				
TUB	7275	broad.mit.edu	37	11	8120376	8120376	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:8120376C>T	ENST00000299506.2	+	9	1219	c.1070C>T	c.(1069-1071)aCt>aTt	p.T357I	TUB_ENST00000305253.4_Missense_Mutation_p.T412I|TUB_ENST00000534099.1_Missense_Mutation_p.T363I	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	357					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TCATCCTCCACTTTGGAAAGT	0.478											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mga.2		NA																	0				ovary(1)	1						c.(1069-1071)ACT>ATT		tubby isoform b							139.0	128.0	132.0					11																	8120376		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8120376C>T	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1070C>T	11.37:g.8120376C>T	ENSP00000299506:p.Thr357Ile		OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	646	TUB_uc010rbk.1_Missense_Mutation_p.T363I|TUB_uc001mfy.2_Missense_Mutation_p.T412I	p.T357I	NM_177972	NP_813977	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	9	1219	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	357					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.1070C>T	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900525	0.33535	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.96522	-4.04;-4.04;-4.04	5.27	3.28	0.37604	Tubby, C-terminal (3);	0.249928	0.51477	D	0.000083	D	0.87224	0.6124	N	0.02985	-0.445	0.09310	N	0.999999	B;B;B	0.28378	0.209;0.001;0.209	B;B;B	0.27608	0.081;0.008;0.077	T	0.79137	-0.1927	10	0.37606	T	0.19	.	8.7108	0.34382	0.1254:0.5021:0.3725:0.0	.	363;357;412	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	I	363;412;357	ENSP00000434400:T363I;ENSP00000305426:T412I;ENSP00000299506:T357I	ENSP00000299506:T357I	T	+	2	0	TUB	8076952	0.389000	0.25205	0.057000	0.19452	0.842000	0.47809	2.627000	0.46469	2.610000	0.88304	0.555000	0.69702	ACT		0.478	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		43	53	0	0	0	0	43	53				
RIC3	79608	broad.mit.edu	37	11	8132603	8132604	+	Missense_Mutation	DNP	GG	GG	AA	rs537621659		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:8132603_8132604GG>AA	ENST00000309737.6	-	6	750_751	c.751_752CC>TT	c.(751-753)CCt>TTt	p.P251F	RIC3_ENST00000425599.2_Missense_Mutation_p.P170F|RIC3_ENST00000335425.7_Missense_Mutation_p.P69F|RIC3_ENST00000539720.1_Missense_Mutation_p.P202F|RIC3_ENST00000343202.4_Missense_Mutation_p.P250F|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000396677.2_Missense_Mutation_p.P89F			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	251					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTTTGGGTCAGGGTAATCCACC	0.421																																						uc001mgd.2		NA																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(751-753)CCT>TTT		resistance to inhibitors of cholinesterase 3																																				SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8132603_8132604GG>AA		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.751_752delinsAA	11.37:g.8132603_8132604delinsAA	ENSP00000308820:p.Pro251Phe					RIC3_uc001mgb.2_Missense_Mutation_p.P89F|RIC3_uc001mgc.2_Missense_Mutation_p.P250F|RIC3_uc001mge.2_Missense_Mutation_p.P69F|RIC3_uc010rbl.1_Missense_Mutation_p.P201F|RIC3_uc010rbm.1_Missense_Mutation_p.P279F|RIC3_uc009yfm.2_Missense_Mutation_p.P170F|RIC3_uc009yfn.2_Missense_Mutation_p.P54F	p.P251F	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	6	805_806	-			251			Cytoplasmic (Potential).		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	DNP	ENST00000309737.6	37	c.751_752CC>TT	CCDS55742.1																																																																																				0.421	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		36	61	0	0	0	0	36	61				
ZNF143	7702	broad.mit.edu	37	11	9492911	9492911	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:9492911G>A	ENST00000396602.2	+	2	175	c.56G>A	c.(55-57)gGa>gAa	p.G19E	ZNF143_ENST00000396604.1_Missense_Mutation_p.G19E|ZNF143_ENST00000396597.3_Missense_Mutation_p.G19E|ZNF143_ENST00000299606.2_Missense_Mutation_p.G19E|ZNF143_ENST00000530463.1_Missense_Mutation_p.G19E	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	19					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TTTCCTGGAGGAGGGATGGAG	0.438																																						uc001mhr.2		NA																	0					0						c.(55-57)GGA>GAA		zinc finger protein 143							155.0	135.0	141.0					11																	9492911		2201	4294	6495	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9492911G>A	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.56G>A	11.37:g.9492911G>A	ENSP00000379847:p.Gly19Glu					ZNF143_uc009yfu.2_Missense_Mutation_p.G19E|ZNF143_uc010rby.1_Missense_Mutation_p.G19E	p.G19E	NM_003442	NP_003433	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	2	174	+			19					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.56G>A	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620449	0.87460	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000526657;ENST00000299606;ENST00000534265;ENST00000412390;ENST00000414370;ENST00000417726	T;T;T;T;T;T;T;T;T;T;T;T	0.54675	0.82;2.87;2.88;2.87;0.73;0.84;2.6;0.83;0.56;2.77;0.83;0.84	5.99	5.99	0.97316	.	0.077364	0.53938	N	0.000048	T	0.61615	0.2361	N	0.16478	0.41	0.54753	D	0.999981	D;D;D	0.89917	0.982;1.0;1.0	P;D;D	0.83275	0.745;0.996;0.996	T	0.65125	-0.6244	10	0.62326	D	0.03	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	19;19;19	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	E	19	ENSP00000434638:G19E;ENSP00000379849:G19E;ENSP00000379847:G19E;ENSP00000432154:G19E;ENSP00000434922:G19E;ENSP00000433221:G19E;ENSP00000379843:G19E;ENSP00000409432:G19E;ENSP00000435881:G19E;ENSP00000299606:G19E;ENSP00000433743:G19E;ENSP00000388628:G19E	ENSP00000299606:G19E	G	+	2	0	ZNF143	9449487	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.623000	0.67757	2.840000	0.97914	0.655000	0.94253	GGA		0.438	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		17	64	0	0	0	0	17	64				
SBF2	81846	broad.mit.edu	37	11	9917511	9917511	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:9917511A>T	ENST00000256190.8	-	17	2045	c.1908T>A	c.(1906-1908)ccT>ccA	p.P636P	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	636					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CACTGGTCAAAGGGAGTAATG	0.323																																						uc001mib.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1906-1908)CCT>CCA		SET binding factor 2							194.0	203.0	200.0					11																	9917511		2201	4294	6495	SO:0001819	synonymous_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9917511A>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1908T>A	11.37:g.9917511A>T						SBF2_uc001mif.3_Silent_p.P392P|uc001mig.2_Intron	p.P636P	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	17	2046	-			636					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	c.1908T>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310183	0.23821	.	.	ENSG00000133812	ENST00000420722	.	.	.	5.37	3.06	0.35304	.	.	.	.	.	T	0.46852	0.1414	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31668	-0.9935	4	.	.	.	.	3.5951	0.08003	0.5796:0.0:0.2633:0.1571	.	.	.	.	I	243	.	.	F	-	1	0	SBF2	9874087	0.995000	0.38212	0.996000	0.52242	0.985000	0.73830	0.224000	0.17738	0.448000	0.26722	0.482000	0.46254	TTT		0.323	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		40	152	0	0	0	0	40	152				
MICAL2	9645	broad.mit.edu	37	11	12257762	12257762	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:12257762G>A	ENST00000256194.4	+	16	2322	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	MICAL2_ENST00000379612.3_Silent_p.R678R|MICAL2_ENST00000537344.1_Silent_p.R678R|MICAL2_ENST00000342902.5_Silent_p.R678R|MICAL2_ENST00000527546.1_Silent_p.R678R	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	678					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)		TGAACAAACGGAGACGGAAGG	0.552											OREG0020771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mjz.2		NA																	0				upper_aerodigestive_tract(2)	2						c.(2032-2034)CGG>CGA		microtubule associated monoxygenase, calponin							171.0	133.0	146.0					11																	12257762		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12257762G>A	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.2034G>A	11.37:g.12257762G>A			OREG0020771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	678	MICAL2_uc010rch.1_Silent_p.R678R|MICAL2_uc001mka.2_Silent_p.R678R|MICAL2_uc010rci.1_Silent_p.R678R|MICAL2_uc001mkb.2_Silent_p.R678R|MICAL2_uc001mkc.2_Silent_p.R678R|MICAL2_uc001mkd.2_Silent_p.R507R|MICAL2_uc010rcj.1_Silent_p.R80R	p.R678R	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	16	2322	+			678					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.2034G>A	CCDS7809.1																																																																																				0.552	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		17	62	0	0	0	0	17	62				
ANO5	203859	broad.mit.edu	37	11	22296187	22296187	+	Missense_Mutation	SNP	A	A	C	rs137854528		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:22296187A>C	ENST00000324559.8	+	20	2625	c.2308A>C	c.(2308-2310)Aca>Cca	p.T770P	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	770					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACAAATGCCACACAGCCTAT	0.393																																						uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2308-2310)ACA>CCA		anoctamin 5 isoform a							140.0	119.0	126.0					11																	22296187		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22296187A>C	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2308A>C	11.37:g.22296187A>C	ENSP00000315371:p.Thr770Pro					ANO5_uc001mqj.2_Missense_Mutation_p.T769P	p.T770P	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			20	2625	+			770			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.2308A>C	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	A	7.732	0.699451	0.15106	.	.	ENSG00000171714	ENST00000324559	T	0.73152	-0.72	5.24	-1.37	0.09056	.	1.196700	0.05805	N	0.612951	T	0.60209	0.2251	L	0.60455	1.87	0.09310	N	1	P	0.38455	0.632	B	0.35413	0.202	T	0.51356	-0.8716	10	0.49607	T	0.09	.	1.7168	0.02903	0.2917:0.1611:0.3901:0.1572	.	770	Q75V66	ANO5_HUMAN	P	770	ENSP00000315371:T770P	ENSP00000315371:T770P	T	+	1	0	ANO5	22252763	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.061000	0.11693	-0.176000	0.10707	-0.388000	0.06559	ACA		0.393	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		17	74	0	0	0	0	17	74				
SLC17A6	57084	broad.mit.edu	37	11	22364834	22364834	+	Silent	SNP	C	C	T	rs376904844		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:22364834C>T	ENST00000263160.3	+	3	818	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	127					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGGGATGATCCACGGTTCCT	0.542																																						uc001mqk.2		NA																	0				ovary(3)|breast(1)	4						c.(379-381)ATC>ATT		solute carrier family 17 (sodium-dependent		C		0,4406		0,0,2203	95.0	102.0	100.0		381	3.3	1.0	11		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC17A6	NM_020346.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		127/583	22364834	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22364834C>T	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.381C>T	11.37:g.22364834C>T							p.I127I	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			3	794	+			127			Helical; (Potential).		A6NKS2	Silent	SNP	ENST00000263160.3	37	c.381C>T	CCDS7856.1																																																																																				0.542	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		16	109	0	0	0	0	16	109				
MUC15	143662	broad.mit.edu	37	11	26582706	26582706	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:26582706G>A	ENST00000455601.2	-	4	1029	c.911C>T	c.(910-912)cCa>cTa	p.P304L	ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.P281L|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P331L|MUC15_ENST00000527569.1_Missense_Mutation_p.P281L|MUC15_ENST00000436318.2_Missense_Mutation_p.P331L|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	304					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATTCAAAGTTGGATTGTAGTA	0.378																																						uc001mqx.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(910-912)CCA>CTA		mucin 15 isoform b							152.0	140.0	144.0					11																	26582706		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26582706G>A	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.911C>T	11.37:g.26582706G>A	ENSP00000397339:p.Pro304Leu					ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.P331L|MUC15_uc001mqy.2_Missense_Mutation_p.P281L	p.P304L	NM_145650	NP_663625	Q8N387	MUC15_HUMAN			4	1177	-			304			Cytoplasmic (Potential).		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.911C>T	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966235	0.34659	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.27256	1.71;1.68;1.69;1.68;1.69	5.43	3.51	0.40186	.	0.280783	0.25076	N	0.033340	T	0.36608	0.0973	L	0.29908	0.895	0.41067	D	0.985426	D;D;D	0.63046	0.992;0.979;0.979	D;P;P	0.63381	0.914;0.858;0.858	T	0.23190	-1.0195	10	0.72032	D	0.01	-15.959	15.3156	0.74074	0.0:0.2647:0.7353:0.0	.	281;304;331	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	L	304;331;281;331;281	ENSP00000397339:P304L;ENSP00000416753:P331L;ENSP00000281268:P281L;ENSP00000431983:P331L;ENSP00000431945:P281L	ENSP00000281268:P281L	P	-	2	0	MUC15	26539282	1.000000	0.71417	0.213000	0.23690	0.462000	0.32619	4.121000	0.57904	0.737000	0.32582	0.591000	0.81541	CCA		0.378	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		12	35	0	0	0	0	12	35				
SYT13	57586	broad.mit.edu	37	11	45274137	45274137	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:45274137G>A	ENST00000020926.3	-	4	792	c.681C>T	c.(679-681)ctC>ctT	p.L227L	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	227	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCGCCAGGGGGAGCACCAGGC	0.677											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001myq.2		NA																	0				ovary(1)	1						c.(679-681)CTC>CTT		synaptotagmin XIII							54.0	50.0	51.0					11																	45274137		2203	4299	6502	SO:0001819	synonymous_variant	57586					transport vesicle		g.chr11:45274137G>A	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.681C>T	11.37:g.45274137G>A			OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Silent_p.L83L	p.L227L	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			4	807	-			227			Cytoplasmic (Potential).|C2 1.		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	ENST00000020926.3	37	c.681C>T	CCDS31470.1																																																																																				0.677	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		14	38	0	0	0	0	14	38				
MAPK8IP1	9479	broad.mit.edu	37	11	45919661	45919661	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:45919661G>A	ENST00000241014.2	+	2	297	c.127G>A	c.(127-129)Gag>Aag	p.E43K	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.E33K	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	43	Asp/Glu-rich (acidic).				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CAGCCTGGAGGAGTTTGAGGA	0.542																																						uc001nbr.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(127-129)GAG>AAG		mitogen-activated protein kinase 8 interacting							121.0	96.0	104.0					11																	45919661		2203	4299	6502	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45919661G>A		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.127G>A	11.37:g.45919661G>A	ENSP00000241014:p.Glu43Lys					MAPK8IP1_uc010rgp.1_Missense_Mutation_p.E27K	p.E43K	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	2	297	+			43			Asp/Glu-rich (acidic).		D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.127G>A	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886706	0.91814	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.68624	-0.29;-0.34	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	T	0.82625	-0.0365	10	0.87932	D	0	-28.8411	18.2603	0.90033	0.0:0.0:1.0:0.0	.	33;43	E9PBB9;Q9UQF2	.;JIP1_HUMAN	K	43;33	ENSP00000241014:E43K;ENSP00000378991:E33K	ENSP00000241014:E43K	E	+	1	0	MAPK8IP1	45876237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.020000	0.93667	2.402000	0.81655	0.655000	0.94253	GAG		0.542	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		4	33	0	0	0	0	4	33				
DDB2	1643	broad.mit.edu	37	11	47256377	47256377	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47256377C>T	ENST00000256996.4	+	6	967	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	DDB2_ENST00000378603.3_Silent_p.L194L|DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	258					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TGATTGGTTCCTGGCCACAGC	0.537			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001neb.2		NA	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	Mis|N	damage-specific DNA binding protein 2			E		skin basal cell|skin squamous cell|melanoma			0				kidney(2)|ovary(1)	3						c.(772-774)CTG>TTG	Direct_reversal_of_damage|NER	damage-specific DNA binding protein 2							52.0	50.0	51.0					11																	47256377		2201	4298	6499	SO:0001819	synonymous_variant	1643	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47256377C>T		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.772C>T	11.37:g.47256377C>T						DDB2_uc001nec.2_Intron|DDB2_uc009yli.1_Silent_p.L194L|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Silent_p.L117L|DDB2_uc001neh.2_RNA	p.L258L	NM_000107	NP_000098	Q92466	DDB2_HUMAN			6	967	+			258	L->A: Impairs interaction with DDB1.		DWD box.|WD 3.		B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Silent	SNP	ENST00000256996.4	37	c.772C>T	CCDS7927.1																																																																																				0.537	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		6	35	0	0	0	0	6	35				
MYBPC3	4607	broad.mit.edu	37	11	47359002	47359002	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47359002C>T	ENST00000545968.1	-	25	2596	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	MYBPC3_ENST00000256993.4_Missense_Mutation_p.A847T|MYBPC3_ENST00000399249.2_Missense_Mutation_p.A848T	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	848	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCGTTGACCGCGTAGACGCGC	0.662																																						uc001nfa.3		NA																	0				ovary(2)|central_nervous_system(1)	3	GRCh37	CD054972	MYBPC3	D		c.(2542-2544)GCG>ACG		myosin binding protein C, cardiac							66.0	69.0	68.0					11																	47359002		2153	4243	6396	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47359002C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2542G>A	11.37:g.47359002C>T	ENSP00000442795:p.Ala848Thr					MYBPC3_uc010rhl.1_RNA	p.A848T	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	24	2597	-			847			Fibronectin type-III 1.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2542G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566422	0.96540	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.67523	-0.27;-0.27;-0.27	4.6	4.6	0.57074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87493	0.6191	H	0.96691	3.865	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.92121	0.5704	9	0.87932	D	0	.	17.6256	0.88093	0.0:1.0:0.0:0.0	.	847	Q14896	MYPC3_HUMAN	T	848;848;847	ENSP00000442795:A848T;ENSP00000382193:A848T;ENSP00000256993:A847T	ENSP00000256993:A847T	A	-	1	0	MYBPC3	47315578	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	7.320000	0.79064	2.395000	0.81488	0.561000	0.74099	GCG		0.662	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			6	36	0	0	0	0	6	36				
CELF1	10658	broad.mit.edu	37	11	47510497	47510497	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47510497G>A	ENST00000358597.3	-	1	69	c.70C>T	c.(70-72)Cca>Tca	p.P24S	CELF1_ENST00000310513.5_Missense_Mutation_p.P24S|CELF1_ENST00000531165.1_Missense_Mutation_p.P51S|CELF1_ENST00000395290.2_Missense_Mutation_p.P24S|CELF1_ENST00000532048.1_Missense_Mutation_p.P51S|CELF1_ENST00000361904.3_Missense_Mutation_p.P24S|CELF1_ENST00000395292.2_Missense_Mutation_p.P24S			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	24	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CAGGTCCTTGGAACCTGGCCC	0.483																																					Pancreas(163;1949 1966 9906 43218 43785)	uc001nfl.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(70-72)CCA>TCA		CUG triplet repeat, RNA-binding protein 1							120.0	119.0	119.0					11																	47510497		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47510497G>A	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.70C>T	11.37:g.47510497G>A	ENSP00000351409:p.Pro24Ser					CELF1_uc001nfm.2_Missense_Mutation_p.P24S|CELF1_uc001nfn.2_Missense_Mutation_p.P24S|CELF1_uc001nfo.1_Missense_Mutation_p.P51S|CELF1_uc010rhm.1_Missense_Mutation_p.P24S|CELF1_uc001nfp.2_Missense_Mutation_p.P51S|CELF1_uc001nfq.1_Missense_Mutation_p.P24S|CELF1_uc001nfr.1_Missense_Mutation_p.P24S	p.P24S	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN			1	80	-			24			RRM 1.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.70C>T	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260077	0.95368	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048;ENST00000530151;ENST00000528434;ENST00000525841;ENST00000543178;ENST00000535982;ENST00000526419	T;T;T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.14;0.85;0.85;0.85;0.85;0.85;0.85;-1.14;0.85;-1.14;-1.14;0.85;0.85	5.59	5.59	0.84812	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.87014	0.6072	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.996;0.996;1.0;0.997	D;D;D;D;D;D	0.91635	0.996;0.999;0.974;0.974;0.999;0.985	D	0.87571	0.2478	10	0.87932	D	0	-8.0963	19.5952	0.95535	0.0:0.0:1.0:0.0	.	24;51;51;24;24;24	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	S	24;24;24;24;24;51;51;24;51;24;24;51;24	ENSP00000378705:P24S;ENSP00000351409:P24S;ENSP00000378706:P24S;ENSP00000308386:P24S;ENSP00000354639:P24S;ENSP00000436864:P51S;ENSP00000435926:P51S;ENSP00000433986:P24S;ENSP00000435320:P51S;ENSP00000436191:P24S;ENSP00000444825:P24S;ENSP00000438044:P51S;ENSP00000435423:P24S	ENSP00000308386:P24S	P	-	1	0	CELF1	47467073	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	9.864000	0.99589	2.639000	0.89480	0.491000	0.48974	CCA		0.483	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		30	95	0	0	0	0	30	95				
MTCH2	23788	broad.mit.edu	37	11	47650568	47650568	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47650568G>A	ENST00000302503.3	-	9	727	c.570C>T	c.(568-570)atC>atT	p.I190I	MTCH2_ENST00000542981.1_Silent_p.I42I|MTCH2_ENST00000534074.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	190					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ACAAAGAAAGGATGTCACCTA	0.453																																						uc010rho.1		NA																	0					0						c.(568-570)ATC>ATT		mitochondrial carrier 2							126.0	98.0	108.0					11																	47650568		2201	4298	6499	SO:0001819	synonymous_variant	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47650568G>A	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.570C>T	11.37:g.47650568G>A						MTCH2_uc001nge.2_Silent_p.I63I|MTCH2_uc010rhp.1_Silent_p.I42I	p.I190I	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN			9	759	-			190			Solcar 2.|Helical; (Potential).		B2R7L8	Silent	SNP	ENST00000302503.3	37	c.570C>T	CCDS7943.1																																																																																				0.453	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		9	21	0	0	0	0	9	21				
NUP160	23279	broad.mit.edu	37	11	47861509	47861509	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47861509G>A	ENST00000378460.2	-	4	680	c.634C>T	c.(634-636)Cct>Tct	p.P212S	NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.P98S|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000530326.1_Missense_Mutation_p.P98S	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	212					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GTGGAATTAGGAGATATTCCA	0.463																																						uc001ngm.2		NA																	0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(634-636)CCT>TCT		nucleoporin 160kDa							119.0	114.0	116.0					11																	47861509		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47861509G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.634C>T	11.37:g.47861509G>A	ENSP00000367721:p.Pro212Ser					NUP160_uc009ylw.2_RNA|NUP160_uc001ngn.1_3'UTR	p.P212S	NM_015231	NP_056046	Q12769	NU160_HUMAN			4	719	-			212					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.634C>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681901	0.29872	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.48522	0.81;0.81;0.81	5.53	5.53	0.82687	.	0.126140	0.56097	D	0.000037	T	0.38188	0.1031	L	0.31664	0.95	0.80722	D	1	B	0.27068	0.167	B	0.23275	0.045	T	0.16988	-1.0384	10	0.45353	T	0.12	.	16.2601	0.82536	0.0:0.2003:0.7997:0.0	.	212	Q12769	NU160_HUMAN	S	212;98;98	ENSP00000367721:P212S;ENSP00000433590:P98S;ENSP00000432367:P98S	ENSP00000367721:P212S	P	-	1	0	NUP160	47818085	0.852000	0.29690	0.259000	0.24435	0.381000	0.30169	1.267000	0.33050	2.608000	0.88229	0.655000	0.94253	CCT		0.463	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		21	88	0	0	0	0	21	88				
OR4A5	81318	broad.mit.edu	37	11	51412038	51412038	+	Missense_Mutation	SNP	G	G	A	rs141762692		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:51412038G>A	ENST00000319760.6	-	1	410	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	120						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(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GCCACATAGCGATCACAGGCC	0.468																																						uc001nhi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(358-360)CGC>TGC		olfactory receptor, family 4, subfamily A,		G	CYS/ARG	0,4402		0,0,2201	72.0	68.0	69.0		358	1.9	1.0	11	dbSNP_134	69	2,8590		0,2,4294	no	missense	OR4A5	NM_001005272.3	180	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	120/316	51412038	2,12992	2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412038G>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.358C>T	11.37:g.51412038G>A	ENSP00000367664:p.Arg120Cys						p.R120C	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	358	-		all_lung(304;0.236)	120			Cytoplasmic (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.358C>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	4.811	0.150706	0.09185	0.0	2.33E-4	ENSG00000221840	ENST00000319760	T	0.77358	-1.09	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000196	T	0.75803	0.3899	M	0.85945	2.785	0.34850	D	0.741568	B	0.25743	0.133	B	0.27715	0.082	T	0.79480	-0.1786	10	0.72032	D	0.01	.	5.73	0.18034	0.0:0.0:0.6816:0.3184	.	120	Q8NH83	OR4A5_HUMAN	C	120	ENSP00000367664:R120C	ENSP00000367664:R120C	R	-	1	0	OR4A5	51268614	0.941000	0.31946	0.992000	0.48379	0.251000	0.25915	2.300000	0.43620	1.394000	0.46624	0.162000	0.16502	CGC		0.468	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		13	44	0	0	0	0	13	44				
OR4A15	81328	broad.mit.edu	37	11	55135800	55135800	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55135800C>T	ENST00000314706.3	+	1	441	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGGTAATGGCCTATGATCGAT	0.438																																						uc010rif.1		NA																	0				ovary(1)|skin(1)	2						c.(439-441)GCC>GCT		olfactory receptor, family 4, subfamily A,							195.0	184.0	188.0					11																	55135800		2201	4296	6497	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135800C>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.441C>T	11.37:g.55135800C>T							p.A147A	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	441	+			147			Helical; Name=3; (Potential).		Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.441C>T	CCDS31500.1																																																																																				0.438	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		33	176	0	0	0	0	33	176				
OR4C11	219429	broad.mit.edu	37	11	55371161	55371161	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55371161C>T	ENST00000302231.4	-	1	713	c.689G>A	c.(688-690)gGg>gAg	p.G230E		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CTTTTTCTTCCCTTTGGCACT	0.408																																						uc010rii.1		NA																	0				ovary(1)	1						c.(688-690)GGG>GAG		olfactory receptor, family 4, subfamily C,							77.0	66.0	70.0					11																	55371161		2177	4005	6182	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371161C>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.689G>A	11.37:g.55371161C>T	ENSP00000306651:p.Gly230Glu						p.G230E	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	689	-			230			Cytoplasmic (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.689G>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237194	0.22711	.	.	ENSG00000172188	ENST00000302231	T	0.00287	8.29	4.34	-1.72	0.08107	GPCR, rhodopsin-like superfamily (1);	0.133576	0.33650	U	0.004690	T	0.00580	0.0019	M	0.82433	2.59	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24333	-1.0163	10	0.66056	D	0.02	.	10.7972	0.46468	0.0:0.4121:0.511:0.0769	.	230	Q6IEV9	OR4CB_HUMAN	E	230	ENSP00000306651:G230E	ENSP00000306651:G230E	G	-	2	0	OR4C11	55127737	0.000000	0.05858	0.109000	0.21407	0.010000	0.07245	0.166000	0.16583	-0.382000	0.07870	0.478000	0.44815	GGG		0.408	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		10	20	0	0	0	0	10	20				
OR4C6	219432	broad.mit.edu	37	11	55433433	55433433	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55433433C>T	ENST00000314259.3	+	1	820	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTCACTCACCCCATAGACAAG	0.488																																						uc001nht.3		NA																	0				skin(2)	2						c.(790-792)CCC>CTC		olfactory receptor, family 4, subfamily C,							106.0	104.0	104.0					11																	55433433		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433433C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.791C>T	11.37:g.55433433C>T	ENSP00000324769:p.Pro264Leu					OR4C6_uc010rik.1_Missense_Mutation_p.P264L	p.P264L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	1056	+			264			Extracellular (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.791C>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	9.603	1.129180	0.21041	.	.	ENSG00000181903	ENST00000314259	T	0.00107	8.72	4.07	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.428764	0.17272	N	0.180340	T	0.00178	0.0005	L	0.43646	1.37	0.09310	N	1	B	0.24675	0.109	B	0.35688	0.208	T	0.23797	-1.0178	10	0.87932	D	0	.	10.0625	0.42284	0.3575:0.6425:0.0:0.0	.	264	Q8NH72	OR4C6_HUMAN	L	264	ENSP00000324769:P264L	ENSP00000324769:P264L	P	+	2	0	OR4C6	55190009	0.000000	0.05858	0.763000	0.31416	0.547000	0.35210	-0.875000	0.04205	1.821000	0.53095	0.543000	0.68304	CCC		0.488	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		34	77	0	0	0	0	34	77				
TRIM51	84767	broad.mit.edu	37	11	55652952	55652952	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55652952C>T	ENST00000449290.2	+	2	140	c.48C>T	c.(46-48)ccC>ccT	p.P16P	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	16						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TCACCTGTCCCATCTGCATGA	0.493																																						uc010rip.1		NA																	0					0						c.(46-48)CCC>CCT		SPRY domain containing 5							19.0	16.0	17.0					11																	55652952		692	1587	2279	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55652952C>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.48C>T	11.37:g.55652952C>T						SPRYD5_uc010riq.1_5'Flank	p.P16P	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	140	+		all_epithelial(135;0.226)	16			RING-type.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.48C>T																																																																																					0.493	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		12	127	0	0	0	0	12	127				
OR5AS1	219447	broad.mit.edu	37	11	55798251	55798251	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55798251T>C	ENST00000313555.1	+	1	357	c.357T>C	c.(355-357)gcT>gcC	p.A119A		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAGCAATGGCTTATGACCGCT	0.463																																						uc010riw.1		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(355-357)GCT>GCC		olfactory receptor, family 5, subfamily AS,							128.0	105.0	113.0					11																	55798251		2201	4296	6497	SO:0001819	synonymous_variant	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798251T>C	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.357T>C	11.37:g.55798251T>C							p.A119A	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	357	+	Esophageal squamous(21;0.00693)		119			Helical; Name=3; (Potential).		Q6IFB8	Silent	SNP	ENST00000313555.1	37	c.357T>C	CCDS31516.1																																																																																				0.463	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		26	36	0	0	0	0	26	36				
OR5J2	282775	broad.mit.edu	37	11	55944497	55944497	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55944497C>T	ENST00000312298.1	+	1	404	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TACACTGTAGCCATGTCTGAT	0.453																																						uc010rjb.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(403-405)GCC>GTC		olfactory receptor, family 5, subfamily J,							164.0	150.0	155.0					11																	55944497		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944497C>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.404C>T	11.37:g.55944497C>T	ENSP00000310788:p.Ala135Val						p.A135V	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	404	+	Esophageal squamous(21;0.00693)		135			Cytoplasmic (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.404C>T	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	5.878	0.346142	0.11126	.	.	ENSG00000174957	ENST00000312298	T	0.18174	2.23	4.67	0.347	0.16022	GPCR, rhodopsin-like superfamily (1);	0.700955	0.12672	N	0.448683	T	0.04497	0.0123	N	0.00815	-1.16	0.09310	N	1	B	0.16802	0.019	B	0.15870	0.014	T	0.44802	-0.9304	10	0.15066	T	0.55	.	8.5729	0.33581	0.0:0.4275:0.0:0.5724	.	135	Q8NH18	OR5J2_HUMAN	V	135	ENSP00000310788:A135V	ENSP00000310788:A135V	A	+	2	0	OR5J2	55701073	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.475000	0.06599	0.136000	0.18733	0.584000	0.79450	GCC		0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		38	76	0	0	0	0	38	76				
OR5T3	390154	broad.mit.edu	37	11	56019871	56019871	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:56019871C>T	ENST00000303059.3	+	1	196	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGCAATCTATCTCTTTACCTT	0.368																																						uc010rjd.1		NA																	0					0						c.(196-198)CTC>TTC		olfactory receptor, family 5, subfamily T,							105.0	105.0	105.0					11																	56019871		2201	4296	6497	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56019871C>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.196C>T	11.37:g.56019871C>T	ENSP00000305403:p.Leu66Phe						p.L66F	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	196	+	Esophageal squamous(21;0.00448)		66			Helical; Name=1; (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.196C>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	4.040	0.005020	0.07866	.	.	ENSG00000172489	ENST00000303059	T	0.17213	2.29	3.99	-2.13	0.07144	.	0.677754	0.12141	N	0.495855	T	0.18635	0.0447	M	0.76574	2.34	0.09310	N	1	B	0.20780	0.048	B	0.27170	0.077	T	0.32640	-0.9899	10	0.49607	T	0.09	.	6.0252	0.19650	0.6001:0.2217:0.1064:0.0718	.	66	Q8NGG3	OR5T3_HUMAN	F	66	ENSP00000305403:L66F	ENSP00000305403:L66F	L	+	1	0	OR5T3	55776447	0.000000	0.05858	0.002000	0.10522	0.059000	0.15707	-5.114000	0.00150	-0.371000	0.08004	0.643000	0.83706	CTC		0.368	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		21	78	0	0	0	0	21	78				
OR5R1	219479	broad.mit.edu	37	11	56184848	56184849	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:56184848_56184849GG>AA	ENST00000312253.1	-	1	859_860	c.860_861CC>TT	c.(859-861)cCC>cTT	p.P287L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TATAGATTAGGGGGTTTAACAT	0.361																																						uc010rji.1		NA																	0				ovary(2)	2						c.(859-861)CCC>CTT		olfactory receptor, family 5, subfamily R,																																				SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56184848_56184849GG>AA	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.860_861delinsAA	11.37:g.56184848_56184849delinsAA	ENSP00000308595:p.Pro287Leu						p.P287L	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	860_861	-	Esophageal squamous(21;0.00448)		287			Helical; Name=7; (Potential).			Missense_Mutation	DNP	ENST00000312253.1	37	c.860_861CC>TT	CCDS31530.1																																																																																				0.361	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		18	99	0	0	0	0	18	99				
SLC43A1	8501	broad.mit.edu	37	11	57254631	57254631	+	Silent	SNP	G	G	A	rs142620907	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:57254631G>A	ENST00000278426.3	-	14	1825	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	SLC43A1_ENST00000528450.1_Silent_p.F490F	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAAGCAAGGCGAACACAGCAC	0.612																																						uc001nkk.2		NA																	0					0						c.(1468-1470)TTC>TTT		solute carrier family 43, member 1		G	,	1,4401	2.1+/-5.4	0,1,2200	99.0	74.0	82.0		1470,1470	-5.8	0.9	11	dbSNP_134	82	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	SLC43A1	NM_001198810.1,NM_003627.5	,	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	,	490/560,490/560	57254631	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57254631G>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1470C>T	11.37:g.57254631G>A						SLC43A1_uc001nkl.2_Silent_p.F490F	p.F490F	NM_003627	NP_003618	O75387	LAT3_HUMAN			14	1588	-			490			Helical; (Potential).			Silent	SNP	ENST00000278426.3	37	c.1470C>T	CCDS7958.1																																																																																				0.612	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		8	31	0	0	0	0	8	31				
OR1S2	219958	broad.mit.edu	37	11	57970986	57970986	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:57970986G>A	ENST00000302592.6	-	1	667	c.668C>T	c.(667-669)cCc>cTc	p.P223L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAGTACAAAGGGGAAGATGAT	0.448																																						uc010rkb.1		NA																	0				ovary(1)	1						c.(667-669)CCC>CTC		olfactory receptor, family 1, subfamily S,							171.0	144.0	153.0					11																	57970986		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970986G>A	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.668C>T	11.37:g.57970986G>A	ENSP00000305469:p.Pro223Leu						p.P223L	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	668	-		Breast(21;0.0589)	223			Helical; Name=5; (Potential).		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.668C>T	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052199	0.55218	.	.	ENSG00000197887	ENST00000302592	T	0.56103	0.48	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000174	T	0.76198	0.3954	H	0.94847	3.59	0.09310	N	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.70970	-0.4727	10	0.87932	D	0	.	6.9436	0.24506	0.0924:0.1774:0.7303:0.0	.	223	Q8NGQ3	OR1S2_HUMAN	L	223	ENSP00000305469:P223L	ENSP00000305469:P223L	P	-	2	0	OR1S2	57727562	0.073000	0.21202	0.917000	0.36280	0.899000	0.52679	1.320000	0.33666	2.622000	0.88805	0.655000	0.94253	CCC		0.448	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		18	87	0	0	0	0	18	87				
OR5B3	441608	broad.mit.edu	37	11	58170000	58170000	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:58170000C>T	ENST00000309403.2	-	1	882	c.883G>A	c.(883-885)Gtg>Atg	p.V295M		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCACTCTTCACTTCCTTGTTC	0.433																																						uc010rkf.1		NA																	0					0						c.(883-885)GTG>ATG		olfactory receptor, family 5, subfamily B,							158.0	131.0	140.0					11																	58170000		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170000C>T	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.883G>A	11.37:g.58170000C>T	ENSP00000308270:p.Val295Met						p.V295M	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	883	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	295			Cytoplasmic (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.883G>A	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	c	9.791	1.177817	0.21787	.	.	ENSG00000172769	ENST00000309403	T	0.39229	1.09	3.92	3.92	0.45320	.	0.000000	0.38720	N	0.001595	T	0.48624	0.1510	L	0.41824	1.3	0.09310	N	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.33059	-0.9883	10	0.87932	D	0	-72.4103	5.0545	0.14525	0.2095:0.6821:0.0:0.1084	.	295	Q8NH48	OR5B3_HUMAN	M	295	ENSP00000308270:V295M	ENSP00000308270:V295M	V	-	1	0	OR5B3	57926576	0.011000	0.17503	0.941000	0.38009	0.129000	0.20672	0.122000	0.15687	2.179000	0.69175	0.655000	0.94253	GTG		0.433	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		23	138	0	0	0	0	23	138				
OR5AN1	390195	broad.mit.edu	37	11	59132056	59132056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59132056G>A	ENST00000313940.2	+	1	172	c.125G>A	c.(124-126)tGg>tAg	p.W42*		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	42						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(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TCTCTGGCCTGGAACCTCTCC	0.418																																						uc010rks.1		NA																	0				ovary(1)	1						c.(124-126)TGG>TAG		olfactory receptor, family 5, subfamily AN,							185.0	170.0	175.0					11																	59132056		2201	4295	6496	SO:0001587	stop_gained	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132056G>A	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.125G>A	11.37:g.59132056G>A	ENSP00000320302:p.Trp42*						p.W42*	NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN			1	125	+			42			Helical; Name=1; (Potential).		B9EIS2|Q6IEV4	Nonsense_Mutation	SNP	ENST00000313940.2	37	c.125G>A	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146641	0.37923	.	.	ENSG00000176495	ENST00000313940	.	.	.	4.65	3.73	0.42828	.	0.000000	0.44285	D	0.000467	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.3892	11.5816	0.50894	0.0895:0.0:0.9105:0.0	.	.	.	.	X	42	.	ENSP00000320302:W42X	W	+	2	0	OR5AN1	58888632	1.000000	0.71417	0.941000	0.38009	0.010000	0.07245	1.451000	0.35145	1.057000	0.40506	0.655000	0.94253	TGG		0.418	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		54	114	0	0	0	0	54	114				
OR5A1	219982	broad.mit.edu	37	11	59211004	59211004	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59211004G>A	ENST00000302030.2	+	1	388	c.363G>A	c.(361-363)atG>atA	p.M121I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TGACTGCTATGGCATACGACC	0.532																																						uc001nnx.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(361-363)ATG>ATA		olfactory receptor, family 5, subfamily A,							236.0	220.0	225.0					11																	59211004		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211004G>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.363G>A	11.37:g.59211004G>A	ENSP00000303096:p.Met121Ile						p.M121I	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	363	+			121			Helical; Name=3; (Potential).		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.363G>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541601	0.65085	.	.	ENSG00000172320	ENST00000302030	T	0.01126	5.3	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.11452	0.0279	M	0.92833	3.35	0.58432	D	0.999997	D	0.69078	0.997	D	0.78314	0.991	T	0.00146	-1.1992	10	0.87932	D	0	-44.962	19.0362	0.92980	0.0:0.0:1.0:0.0	.	121	Q8NGJ0	OR5A1_HUMAN	I	121	ENSP00000303096:M121I	ENSP00000303096:M121I	M	+	3	0	OR5A1	58967580	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	9.772000	0.98984	2.835000	0.97688	0.650000	0.86243	ATG		0.532	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		74	192	0	0	0	0	74	192				
GIF	2694	broad.mit.edu	37	11	59610013	59610013	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59610013C>T	ENST00000257248.2	-	4	461	c.414G>A	c.(412-414)gcG>gcA	p.A138A	GIF_ENST00000541311.1_Silent_p.A113A	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	138					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.A138A(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GTGCCAAGATCGCTAGACTGG	0.557																																					NSCLC(53;1139 1245 16872 38474 42853)	uc001noi.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|liver(1)	2						c.(412-414)GCG>GCA		gastric intrinsic factor (vitamin B synthesis)							95.0	80.0	85.0					11																	59610013		2201	4295	6496	SO:0001819	synonymous_variant	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59610013C>T	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.414G>A	11.37:g.59610013C>T						GIF_uc010rkz.1_3'UTR	p.A138A	NM_005142	NP_005133	P27352	IF_HUMAN			4	462	-			138					B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	c.414G>A	CCDS7977.1																																																																																				0.557	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		13	62	0	0	0	0	13	62				
GIF	2694	broad.mit.edu	37	11	59612891	59612891	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59612891G>A	ENST00000257248.2	-	1	83	c.36C>T	c.(34-36)ctC>ctT	p.L12L	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	12					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	CTGTAGCCCAGAGAAGGCTCA	0.522																																					NSCLC(53;1139 1245 16872 38474 42853)	uc001noi.2		NA																	0				ovary(1)|liver(1)	2						c.(34-36)CTC>CTT		gastric intrinsic factor (vitamin B synthesis)							171.0	167.0	168.0					11																	59612891		2201	4295	6496	SO:0001819	synonymous_variant	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59612891G>A	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.36C>T	11.37:g.59612891G>A						GIF_uc010rkz.1_Silent_p.L12L	p.L12L	NM_005142	NP_005133	P27352	IF_HUMAN			1	84	-			12					B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	c.36C>T	CCDS7977.1																																																																																				0.522	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		53	178	0	0	0	0	53	178				
MS4A6A	64231	broad.mit.edu	37	11	59945756	59945756	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59945756C>T	ENST00000530839.1	-	5	808	c.316G>A	c.(316-318)Gag>Aag	p.E106K	MS4A6A_ENST00000323961.3_Missense_Mutation_p.E106K|MS4A6A_ENST00000420732.2_Missense_Mutation_p.E106K|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529054.1_Missense_Mutation_p.E134K|MS4A6A_ENST00000528851.1_Missense_Mutation_p.E106K|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000412309.2_Missense_Mutation_p.E134K|MS4A6A_ENST00000426738.2_Missense_Mutation_p.E61K	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	106						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AACCTTTTCTCTGTGGCGATT	0.393																																						uc001nor.2		NA																	0					0						c.(316-318)GAG>AAG		membrane-spanning 4-domains, subfamily A, member							137.0	130.0	132.0					11																	59945756		2201	4295	6496	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59945756C>T	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.316G>A	11.37:g.59945756C>T	ENSP00000436979:p.Glu106Lys					MS4A6A_uc001noq.2_Missense_Mutation_p.E106K|MS4A6A_uc001nos.3_Missense_Mutation_p.E134K|MS4A6A_uc009ymv.2_Missense_Mutation_p.E106K|MS4A6A_uc001not.2_Missense_Mutation_p.E106K|MS4A6A_uc010rla.1_Missense_Mutation_p.E134K|MS4A6A_uc010rlb.1_Missense_Mutation_p.E61K	p.E106K	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN			4	554	-			106			Cytoplasmic (Potential).		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.316G>A	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518077	0.64634	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309	T;T;T;T;T;T;T	0.80566	4.13;4.13;-1.39;4.13;4.13;4.13;4.13	4.73	4.73	0.59995	.	0.726683	0.13067	N	0.416413	D	0.87928	0.6301	M	0.69823	2.125	0.20307	N	0.999914	D;D;D;D;D	0.89917	0.999;0.998;0.999;1.0;0.992	D;D;D;D;P	0.74023	0.966;0.943;0.966;0.982;0.906	T	0.78476	-0.2189	10	0.31617	T	0.26	.	13.3857	0.60795	0.0:1.0:0.0:0.0	.	61;134;134;106;106	E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;.;M4A6A_HUMAN;.	K	106;106;106;106;134;61;134	ENSP00000315878:E106K;ENSP00000431901:E106K;ENSP00000392921:E106K;ENSP00000436979:E106K;ENSP00000435844:E134K;ENSP00000392770:E61K;ENSP00000403212:E134K	ENSP00000315878:E106K	E	-	1	0	MS4A6A	59702332	0.068000	0.21057	0.185000	0.23176	0.010000	0.07245	1.073000	0.30691	2.606000	0.88127	0.655000	0.94253	GAG		0.393	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			5	91	0	0	0	0	5	91				
MS4A7	58475	broad.mit.edu	37	11	60152592	60152592	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60152592C>T	ENST00000300184.3	+	3	375	c.179C>T	c.(178-180)tCa>tTa	p.S60L	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Missense_Mutation_p.S60L|MS4A7_ENST00000358246.1_Intron|MS4A7_ENST00000534016.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	60						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CTGTTGATTTCAAGTCTGGGG	0.448																																						uc001npe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(178-180)TCA>TTA		membrane-spanning 4-domains, subfamily A, member							175.0	174.0	174.0					11																	60152592		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60152592C>T	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.179C>T	11.37:g.60152592C>T	ENSP00000300184:p.Ser60Leu					MS4A7_uc001npf.2_Missense_Mutation_p.S60L|MS4A7_uc001npg.2_Intron|MS4A7_uc001nph.2_Intron|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Intron	p.S60L	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			3	324	+			60			Helical; (Potential).		A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.179C>T	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	C	1.734	-0.493426	0.04322	.	.	ENSG00000166927	ENST00000300184;ENST00000530234	T;T	0.01767	4.65;4.65	3.91	2.03	0.26663	.	0.593958	0.15245	N	0.272669	T	0.01489	0.0048	N	0.04994	-0.135	0.09310	N	1	P	0.51449	0.945	P	0.55161	0.77	T	0.31503	-0.9941	10	0.02654	T	1	-39.8217	6.0034	0.19533	0.0:0.7656:0.0:0.2344	.	60	Q9GZW8	MS4A7_HUMAN	L	60	ENSP00000300184:S60L;ENSP00000433184:S60L	ENSP00000300184:S60L	S	+	2	0	MS4A7	59909168	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.007000	0.13174	0.618000	0.30179	0.563000	0.77884	TCA		0.448	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			67	141	0	0	0	0	67	141				
MS4A1	931	broad.mit.edu	37	11	60230539	60230540	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60230539_60230540GG>AA	ENST00000534668.1	+	3	513_514	c.224_225GG>AA	c.(223-225)gGG>gAA	p.G75E	MS4A1_ENST00000345732.4_Missense_Mutation_p.G75E|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Missense_Mutation_p.G75E|MS4A1_ENST00000532073.1_Missense_Mutation_p.G75E	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	75	Epitope 1.				B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	ATCCCAGCAGGGATCTATGCAC	0.515																																						uc001npp.2		NA																	0				ovary(3)|lung(2)	5						c.(223-225)GGG>GAA		membrane-spanning 4-domains, subfamily A, member	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)																																			SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60230539_60230540GG>AA	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		Exception_encountered	11.37:g.60230539_60230540delinsAA	ENSP00000433277:p.Gly75Glu					MS4A1_uc009ymy.1_Missense_Mutation_p.G75E|MS4A1_uc001npq.2_Missense_Mutation_p.G75E|MS4A1_uc009yna.2_Missense_Mutation_p.G75E|MS4A1_uc009ymz.2_Missense_Mutation_p.G75E|MS4A1_uc010rlc.1_Intron	p.G75E	NM_152866	NP_690605	P11836	CD20_HUMAN			4	640_641	+			75			Helical; (Potential).|Epitope 1.		A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	DNP	ENST00000534668.1	37	c.224_225GG>AA	CCDS31570.1																																																																																				0.515	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			28	160	0	0	0	0	28	160				
TMEM132A	54972	broad.mit.edu	37	11	60696260	60696260	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60696260C>T	ENST00000453848.2	+	4	852	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	TMEM132A_ENST00000005286.4_Missense_Mutation_p.L232F			Q24JP5	T132A_HUMAN	transmembrane protein 132A	232						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGAGCAGGCCCTCCCAGTGGG	0.697																																						uc001nqj.2		NA																	0				skin(1)	1						c.(694-696)CTC>TTC		transmembrane protein 132A isoform b							18.0	19.0	19.0					11																	60696260		2198	4291	6489	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60696260C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.694C>T	11.37:g.60696260C>T	ENSP00000405823:p.Leu232Phe					TMEM132A_uc001nqi.2_Missense_Mutation_p.L232F|TMEM132A_uc001nqk.2_Missense_Mutation_p.L245F|TMEM132A_uc001nql.1_Missense_Mutation_p.L245F	p.L232F	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			4	887	+			232			Extracellular (Potential).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.694C>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	6.322	0.427583	0.11987	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.06528	3.29;3.29	4.38	3.46	0.39613	.	0.847008	0.09766	N	0.758691	T	0.09686	0.0238	L	0.58101	1.795	0.23186	N	0.998157	B;B;B	0.14438	0.004;0.004;0.01	B;B;B	0.14023	0.004;0.01;0.01	T	0.20874	-1.0262	10	0.87932	D	0	.	10.3228	0.43775	0.0:0.9056:0.0:0.0944	.	221;232;232	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	F	232	ENSP00000405823:L232F;ENSP00000005286:L232F	ENSP00000005286:L232F	L	+	1	0	TMEM132A	60452836	0.004000	0.15560	0.906000	0.35671	0.744000	0.42396	0.972000	0.29409	0.976000	0.38417	0.555000	0.69702	CTC		0.697	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		6	17	0	0	0	0	6	17				
CD6	923	broad.mit.edu	37	11	60781393	60781393	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60781393C>T	ENST00000313421.7	+	8	1480	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	CD6_ENST00000346437.4_Intron|CD6_ENST00000344028.5_Intron|CD6_ENST00000352009.5_Intron|CD6_ENST00000452451.2_Missense_Mutation_p.L432F|CD6_ENST00000545105.1_3'UTR	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	432					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCCCTCAGCCCTCCCCGTAAT	0.547																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2		NA																	0				pancreas(1)	1						c.(1294-1296)CTC>TTC		CD6 molecule precursor							80.0	70.0	73.0					11																	60781393		2203	4299	6502	SO:0001583	missense	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60781393C>T		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1294C>T	11.37:g.60781393C>T	ENSP00000323280:p.Leu432Phe					CD6_uc001nqp.2_Missense_Mutation_p.L432F|CD6_uc001nqr.2_Intron|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.L432F	p.L432F	NM_006725	NP_006716	P30203	CD6_HUMAN			8	1517	+			432			Cytoplasmic (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	c.1294C>T	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.260892	0.39995	.	.	ENSG00000013725	ENST00000313421;ENST00000452451	T;T	0.02158	4.42;4.54	5.18	3.31	0.37934	.	0.497192	0.15176	N	0.276344	T	0.03608	0.0103	M	0.64997	1.995	0.80722	D	1	B;B;B	0.32203	0.36;0.246;0.125	B;B;B	0.34385	0.181;0.088;0.041	T	0.40664	-0.9551	10	0.72032	D	0.01	.	6.1509	0.20310	0.0:0.6924:0.15:0.1575	.	432;432;432	P30203-5;P30203;Q8N4Q7	.;CD6_HUMAN;.	F	432	ENSP00000323280:L432F;ENSP00000390676:L432F	ENSP00000323280:L432F	L	+	1	0	CD6	60537969	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.553000	0.23391	0.572000	0.29383	0.467000	0.42956	CTC		0.547	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		10	27	0	0	0	0	10	27				
MYRF	745	broad.mit.edu	37	11	61548706	61548706	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:61548706C>T	ENST00000278836.5	+	21	2765	c.2669C>T	c.(2668-2670)cCc>cTc	p.P890L	MYRF_ENST00000265460.5_Missense_Mutation_p.P855L|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Missense_Mutation_p.P281L	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	890					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTTCCTCACCCACTAccaac	0.607																																						uc001nsc.1		NA																	0				breast(1)	1						c.(2668-2670)CCC>CTC		myelin gene regulatory factor isoform 2							157.0	131.0	140.0					11																	61548706		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61548706C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2669C>T	11.37:g.61548706C>T	ENSP00000278836:p.Pro890Leu					C11orf9_uc001nse.1_Missense_Mutation_p.P855L|C11orf9_uc010rll.1_Missense_Mutation_p.P281L	p.P890L	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			21	2765	+			890					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.2669C>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632139	0.67015	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.32272	1.53;1.46;1.49	4.44	4.44	0.53790	.	0.800545	0.12005	N	0.508409	T	0.28962	0.0719	L	0.44542	1.39	0.58432	D	0.999999	B;B;B	0.25850	0.055;0.136;0.025	B;B;B	0.21151	0.033;0.033;0.008	T	0.11397	-1.0589	10	0.72032	D	0.01	-7.7353	13.2961	0.60298	0.0:1.0:0.0:0.0	.	281;855;890	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	L	890;855;281	ENSP00000278836:P890L;ENSP00000265460:P855L;ENSP00000374253:P281L	ENSP00000265460:P855L	P	+	2	0	C11orf9	61305282	0.002000	0.14202	0.046000	0.18839	0.745000	0.42441	1.540000	0.36115	2.415000	0.81967	0.561000	0.74099	CCC		0.607	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		26	82	0	0	0	0	26	82				
FADS2	9415	broad.mit.edu	37	11	61583899	61583899	+	Splice_Site	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:61583899G>T	ENST00000257261.6	+	1	171		c.e1+1		FADS2_ENST00000522639.1_Splice_Site|FADS2_ENST00000517839.1_5'Flank|FADS1_ENST00000350997.7_Intron|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_5'Flank|FADS1_ENST00000542506.1_5'Flank|MIR1908_ENST00000410394.1_RNA|FADS1_ENST00000541683.1_Intron|FADS2_ENST00000522056.1_5'UTR	NM_001281501.1|NM_001281502.1	NP_001268430.1|NP_001268431.1	O95864	FADS2_HUMAN	fatty acid desaturase 2						alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CGGGCAACAGGTATGATCAGG	0.617																																						uc001nsj.2		NA																	0				ovary(1)|pancreas(1)	2						c.e1+1		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						37.0	38.0	38.0					11																	61583899		875	1990	2865	SO:0001630	splice_region_variant	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61583899G>T	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000257261.6:c.141+1G>T	11.37:g.61583899G>T						FADS2_uc010rlo.1_5'UTR|FADS1_uc001nsh.2_5'Flank|FADS1_uc010rlm.1_Intron|FADS1_uc010rln.1_5'Flank|MIR1908_hsa-mir-1908|MI0008329_5'Flank	p.Q47_splice	NM_004265	NP_004256	O95864	FADS2_HUMAN			1	171	+								A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Splice_Site	SNP	ENST00000257261.6	37	c.141_splice		.	.	.	.	.	.	.	.	.	.	G	6.139	0.393776	0.11638	.	.	ENSG00000134824	ENST00000257261	.	.	.	1.94	0.969	0.19686	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.174	0.20433	0.0:0.3213:0.6787:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FADS2	61340475	0.003000	0.15002	0.001000	0.08648	0.014000	0.08584	0.430000	0.21428	0.344000	0.23847	0.561000	0.74099	.		0.617	FADS2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000375581.1	NM_004265	Intron	19	32	1	0	1.64e-05	1.67e-05	19	32				
AHNAK	79026	broad.mit.edu	37	11	62288196	62288196	+	Missense_Mutation	SNP	G	G	A	rs377332726		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62288196G>A	ENST00000378024.4	-	5	13967	c.13693C>T	c.(13693-13695)Cct>Tct	p.P4565S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4565					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAATATCAGGAGTGTCAATG	0.448																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(13693-13695)CCT>TCT		AHNAK nucleoprotein isoform 1							88.0	85.0	86.0					11																	62288196		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288196G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13693C>T	11.37:g.62288196G>A	ENSP00000367263:p.Pro4565Ser					AHNAK_uc001ntk.1_Intron	p.P4565S	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13993	-		Melanoma(852;0.155)	4565					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13693C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426157	0.83667	.	.	ENSG00000124942	ENST00000378024	T	0.03035	4.07	5.01	5.01	0.66863	.	0.063245	0.64402	D	0.000004	T	0.23410	0.0566	M	0.91140	3.18	0.58432	D	0.999997	D	0.76494	0.999	D	0.85130	0.997	T	0.30238	-0.9985	10	0.16896	T	0.51	.	18.3526	0.90343	0.0:0.0:1.0:0.0	.	4565	Q09666	AHNK_HUMAN	S	4565	ENSP00000367263:P4565S	ENSP00000367263:P4565S	P	-	1	0	AHNAK	62044772	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.291000	0.65667	2.489000	0.83994	0.638000	0.83543	CCT		0.448	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		15	96	0	0	0	0	15	96				
AHNAK	79026	broad.mit.edu	37	11	62291267	62291267	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62291267G>A	ENST00000378024.4	-	5	10896	c.10622C>T	c.(10621-10623)cCc>cTc	p.P3541L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3541					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGAGATCTTGGGAGCTTTGAT	0.468																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(10621-10623)CCC>CTC		AHNAK nucleoprotein isoform 1							135.0	146.0	143.0					11																	62291267		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291267G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10622C>T	11.37:g.62291267G>A	ENSP00000367263:p.Pro3541Leu					AHNAK_uc001ntk.1_Intron	p.P3541L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	10922	-		Melanoma(852;0.155)	3541					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10622C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	16.78	3.216757	0.58452	.	.	ENSG00000124942	ENST00000378024	T	0.04758	3.56	4.75	3.84	0.44239	.	0.165964	0.41712	D	0.000833	T	0.23806	0.0576	M	0.88842	2.985	0.52099	D	0.999945	D	0.89917	1.0	D	0.83275	0.996	T	0.02991	-1.1085	10	0.37606	T	0.19	-3.805	12.5227	0.56069	0.0821:0.0:0.9179:0.0	.	3541	Q09666	AHNK_HUMAN	L	3541	ENSP00000367263:P3541L	ENSP00000367263:P3541L	P	-	2	0	AHNAK	62047843	1.000000	0.71417	0.989000	0.46669	0.822000	0.46500	5.873000	0.69644	1.016000	0.39470	0.453000	0.30009	CCC		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		45	238	0	0	0	0	45	238				
AHNAK	79026	broad.mit.edu	37	11	62298332	62298332	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62298332G>A	ENST00000378024.4	-	5	3831	c.3557C>T	c.(3556-3558)cCt>cTt	p.P1186L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1186					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGCATCTCAGGCATCTTAAA	0.527																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3556-3558)CCT>CTT		AHNAK nucleoprotein isoform 1							220.0	224.0	223.0					11																	62298332		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298332G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3557C>T	11.37:g.62298332G>A	ENSP00000367263:p.Pro1186Leu					AHNAK_uc001ntk.1_Intron	p.P1186L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	3857	-		Melanoma(852;0.155)	1186					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3557C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	17.38	3.374619	0.61735	.	.	ENSG00000124942	ENST00000378024	T	0.03065	4.06	4.99	4.99	0.66335	.	0.000000	0.40064	N	0.001199	T	0.32496	0.0831	H	0.97340	3.985	0.49130	D	0.999756	D	0.76494	0.999	D	0.83275	0.996	T	0.56780	-0.7922	10	0.72032	D	0.01	.	17.9412	0.89027	0.0:0.0:1.0:0.0	.	1186	Q09666	AHNK_HUMAN	L	1186	ENSP00000367263:P1186L	ENSP00000367263:P1186L	P	-	2	0	AHNAK	62054908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.706000	0.84615	2.340000	0.79590	0.645000	0.84053	CCT		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		71	365	0	0	0	0	71	365				
ZBTB3	79842	broad.mit.edu	37	11	62520304	62520305	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62520304_62520305GG>AA	ENST00000394807.3	-	2	1107_1108	c.982_983CC>TT	c.(982-984)CCa>TTa	p.P328L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	328	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						ggctgacgttggggctgaggct	0.589																																						uc001nuz.2		NA																	0				breast(2)|ovary(1)	3						c.(982-984)CCA>TTA		zinc finger and BTB domain containing 3																																				SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62520304_62520305GG>AA	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.982_983delinsAA	11.37:g.62520304_62520305delinsAA	ENSP00000378286:p.Pro328Leu						p.P328L	NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN			2	1104_1105	-			328			Pro-rich.			Missense_Mutation	DNP	ENST00000394807.3	37	c.982_983CC>TT	CCDS8034.1																																																																																				0.589	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		12	69	0	0	0	0	12	69				
SLC3A2	6520	broad.mit.edu	37	11	62651938	62651938	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62651938G>A	ENST00000377890.2	+	7	1171	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	SLC3A2_ENST00000535296.1_Missense_Mutation_p.E304K|SLC3A2_ENST00000377889.2_Missense_Mutation_p.E273K|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377891.2_Missense_Mutation_p.E336K|SLC3A2_ENST00000377892.1_Missense_Mutation_p.E366K|SLC3A2_ENST00000338663.7_Missense_Mutation_p.E234K|SLC3A2_ENST00000538682.1_3'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	335					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GGATGCTCTGGAGTTTTGGCT	0.502											OREG0021032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nwd.2		NA																	0					0						c.(1003-1005)GAG>AAG		solute carrier family 3, member 2 isoform c							124.0	120.0	121.0					11																	62651938		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62651938G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1003G>A	11.37:g.62651938G>A	ENSP00000367122:p.Glu335Lys		OREG0021032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1062	SLC3A2_uc001nwb.2_Missense_Mutation_p.E366K|SLC3A2_uc001nwc.2_Missense_Mutation_p.E336K|SLC3A2_uc001nwe.2_Missense_Mutation_p.E304K|SLC3A2_uc001nwf.2_Missense_Mutation_p.E273K|SLC3A2_uc001nwg.2_Missense_Mutation_p.E234K|SLC3A2_uc010rml.1_RNA	p.E335K	NM_002394	NP_002385	P08195	4F2_HUMAN			7	1227	+			335			Extracellular (Potential).		Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.1003G>A	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967208	0.34754	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606	D;D;D;D;D;D	0.98234	-4.71;-4.71;-4.71;-4.71;-4.81;-4.71	5.02	-3.95	0.04118	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.807690	0.02069	N	0.051423	D	0.91188	0.7224	N	0.04636	-0.2	0.19575	N	0.999966	B;B;B;B;B	0.23316	0.0;0.009;0.083;0.007;0.03	B;B;B;B;B	0.18263	0.0;0.007;0.021;0.005;0.008	D	0.91551	0.5257	10	0.05959	T	0.93	2.2681	5.6223	0.17463	0.3655:0.2692:0.3652:0.0	.	273;304;335;234;366	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	K	366;336;335;336;273;304;234;216	ENSP00000367124:E366K;ENSP00000367123:E336K;ENSP00000367122:E335K;ENSP00000367121:E273K;ENSP00000444236:E304K;ENSP00000340815:E234K	ENSP00000340815:E234K	E	+	1	0	SLC3A2	62408514	0.004000	0.15560	0.021000	0.16686	0.646000	0.38490	-0.056000	0.11787	-0.590000	0.05866	0.313000	0.20887	GAG		0.502	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		19	120	0	0	0	0	19	120				
SLC3A2	6520	broad.mit.edu	37	11	62655841	62655841	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62655841C>T	ENST00000377890.2	+	12	1737	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	SLC3A2_ENST00000377889.2_Silent_p.F461F|SLC3A2_ENST00000338663.7_Silent_p.F422F|SLC3A2_ENST00000536981.1_Silent_p.F68F|SLC3A2_ENST00000377891.2_Silent_p.F524F|SLC3A2_ENST00000377892.1_Silent_p.F554F|SLC3A2_ENST00000535296.1_Silent_p.F492F|SLC3A2_ENST00000538682.1_3'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	523					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TTTCCTTGTTCCGGCGGCTGA	0.572																																						uc001nwd.2		NA																	0					0						c.(1567-1569)TTC>TTT		solute carrier family 3, member 2 isoform c							49.0	48.0	48.0					11																	62655841		2201	4298	6499	SO:0001819	synonymous_variant	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62655841C>T		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1569C>T	11.37:g.62655841C>T						SLC3A2_uc001nwb.2_Silent_p.F554F|SLC3A2_uc001nwc.2_Silent_p.F524F|SLC3A2_uc001nwe.2_Silent_p.F492F|SLC3A2_uc001nwf.2_Silent_p.F461F|SLC3A2_uc001nwg.2_Silent_p.F422F	p.F523F	NM_002394	NP_002385	P08195	4F2_HUMAN			12	1793	+			523			Extracellular (Potential).		Q13543	Silent	SNP	ENST00000377890.2	37	c.1569C>T	CCDS8039.2																																																																																				0.572	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		16	75	0	0	0	0	16	75				
PLCB3	5331	broad.mit.edu	37	11	64026070	64026070	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64026070G>A	ENST00000540288.1	+	11	1241	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	PLCB3_ENST00000325234.5_Missense_Mutation_p.G313S|PLCB3_ENST00000279230.6_Missense_Mutation_p.G380S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	380	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CATTACCCACGGCTTCACCAT	0.632																																						uc001nzb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1138-1140)GGC>AGC		phospholipase C beta 3							131.0	108.0	116.0					11																	64026070		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64026070G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1138G>A	11.37:g.64026070G>A	ENSP00000443631:p.Gly380Ser					PLCB3_uc009ypg.1_Missense_Mutation_p.G380S|PLCB3_uc009yph.1_Missense_Mutation_p.G313S|PLCB3_uc009ypi.2_Missense_Mutation_p.G380S	p.G380S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			11	1138	+			380			PI-PLC X-box.		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.1138G>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	35	5.491532	0.96339	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.71698	-0.59;-0.59;-0.59	4.88	4.88	0.63580	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.88157	0.6361	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91510	0.5226	10	0.87932	D	0	.	16.7888	0.85582	0.0:0.0:1.0:0.0	.	313;380	G5E960;Q01970	.;PLCB3_HUMAN	S	380;380;313	ENSP00000279230:G380S;ENSP00000443631:G380S;ENSP00000324660:G313S	ENSP00000279230:G380S	G	+	1	0	PLCB3	63782646	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.718000	0.98758	2.268000	0.75426	0.484000	0.47621	GGC		0.632	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			17	93	0	0	0	0	17	93				
NRXN2	9379	broad.mit.edu	37	11	64436058	64436058	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64436058C>T	ENST00000377551.1	-	7	1427	c.1216G>A	c.(1216-1218)Ggg>Agg	p.G406R	NRXN2_ENST00000409571.1_Missense_Mutation_p.G399R|NRXN2_ENST00000265459.6_Missense_Mutation_p.G406R|NRXN2_ENST00000377559.3_Missense_Mutation_p.G375R			Q9P2S2	NRX2A_HUMAN	neurexin 2	406	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTCAGGATCCCGTCCACCGAG	0.572																																						uc001oar.2		NA																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1216-1218)GGG>AGG		neurexin 2 isoform alpha-1 precursor							124.0	111.0	115.0					11																	64436058		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64436058C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1216G>A	11.37:g.64436058C>T	ENSP00000366774:p.Gly406Arg					NRXN2_uc001oas.2_Missense_Mutation_p.G375R|NRXN2_uc001oaq.2_Missense_Mutation_p.G73R	p.G406R	NM_015080	NP_055895	P58401	NRX2B_HUMAN			9	1655	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.1216G>A	CCDS8077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.876747|4.876747	0.91664|0.91664	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300|ENST00000437746	D;T;D;D;D|.	0.81499|.	-1.5;-1.43;-1.5;-1.5;-1.5|.	4.91|4.91	4.91|4.91	0.64330|0.64330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);|.	0.000000|.	0.43416|.	U|.	0.000563|.	T|T	0.59851|0.59851	0.2224|0.2224	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.997|.	D;D;D|.	0.97110|.	1.0;0.998;0.941|.	T|T	0.55842|0.55842	-0.8077|-0.8077	10|5	0.87932|.	D|.	0|.	.|.	15.6315|15.6315	0.76912|0.76912	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	375;406;152|.	Q9P2S2-2;Q9P2S2;E7EV67|.	.;NRX2A_HUMAN;.|.	R|Q	406;375;406;375;399;162|180	ENSP00000366774:G406R;ENSP00000366782:G375R;ENSP00000265459:G406R;ENSP00000386416:G399R;ENSP00000388971:G162R|.	ENSP00000265459:G406R|.	G|R	-|-	1|2	0|0	NRXN2|NRXN2	64192634|64192634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.600000|7.600000	0.82769|0.82769	2.531000|2.531000	0.85337|0.85337	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.572	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		23	100	0	0	0	0	23	100				
PPP2R5B	5526	broad.mit.edu	37	11	64693256	64693256	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64693256C>T	ENST00000164133.2	+	2	672	c.50C>T	c.(49-51)cCc>cTc	p.P17L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	17					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCCTCCTCCCCCGGGCTGTCG	0.711																																						uc001oby.2		NA																	0				ovary(2)	2						c.(49-51)CCC>CTC		beta isoform of regulatory subunit B56, protein							7.0	8.0	8.0					11																	64693256		2156	4254	6410	SO:0001583	missense	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64693256C>T	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.50C>T	11.37:g.64693256C>T	ENSP00000164133:p.Pro17Leu					PPP2R5B_uc001obz.2_Missense_Mutation_p.P17L	p.P17L	NM_006244	NP_006235	Q15173	2A5B_HUMAN			2	635	+			17					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.50C>T	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034713	0.35893	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000527441	.	.	.	3.46	3.46	0.39613	.	0.544834	0.16513	N	0.211152	T	0.23965	0.0580	N	0.14661	0.345	0.49582	D	0.999804	P	0.37594	0.601	B	0.20955	0.032	T	0.09840	-1.0656	9	0.20046	T	0.44	-4.1078	12.8721	0.57970	0.0:1.0:0.0:0.0	.	17	Q15173	2A5B_HUMAN	L	17;17;44;17	.	ENSP00000164133:P17L	P	+	2	0	PPP2R5B	64449832	0.842000	0.29525	0.431000	0.26735	0.241000	0.25554	1.941000	0.40233	1.966000	0.57179	0.549000	0.68633	CCC		0.711	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		9	8	0	0	0	0	9	8				
PPP2R5B	5526	broad.mit.edu	37	11	64694328	64694328	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64694328G>A	ENST00000164133.2	+	3	966	c.344G>A	c.(343-345)gGg>gAg	p.G115E		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	115					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GAGTGTGTGGGGAGCACCCGG	0.652																																						uc001oby.2		NA																	0				ovary(2)	2						c.(343-345)GGG>GAG		beta isoform of regulatory subunit B56, protein							115.0	101.0	106.0					11																	64694328		2201	4297	6498	SO:0001583	missense	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64694328G>A	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.344G>A	11.37:g.64694328G>A	ENSP00000164133:p.Gly115Glu					PPP2R5B_uc001obz.2_Missense_Mutation_p.G115E	p.G115E	NM_006244	NP_006235	Q15173	2A5B_HUMAN			3	929	+			115					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.344G>A	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371685	0.61624	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.94	3.94	0.45596	Armadillo-type fold (1);	0.062850	0.64402	D	0.000010	T	0.40247	0.1109	N	0.17312	0.475	0.41486	D	0.988199	P	0.37015	0.578	B	0.42462	0.388	T	0.45175	-0.9279	9	0.87932	D	0	-33.1343	9.8998	0.41340	0.0:0.2077:0.7923:0.0	.	115	Q15173	2A5B_HUMAN	E	115;115;142;29;115	.	ENSP00000164133:G115E	G	+	2	0	PPP2R5B	64450904	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.014000	0.64029	2.485000	0.83878	0.655000	0.94253	GGG		0.652	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		11	35	0	0	0	0	11	35				
SYVN1	84447	broad.mit.edu	37	11	64897364	64897364	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64897364G>A	ENST00000377190.3	-	14	1526	c.1432C>T	c.(1432-1434)Cct>Tct	p.P478S	SYVN1_ENST00000294256.8_Missense_Mutation_p.P477S|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000307289.6_Missense_Mutation_p.P426S|SYVN1_ENST00000526060.1_Missense_Mutation_p.P477S	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	478	Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AAGCCCGCAGGGGGCACAGGC	0.657																																						uc001odb.2		NA																	0				ovary(1)	1						c.(1432-1434)CCT>TCT		synoviolin 1 isoform b							25.0	31.0	29.0					11																	64897364		2201	4297	6498	SO:0001583	missense	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64897364G>A	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1432C>T	11.37:g.64897364G>A	ENSP00000366395:p.Pro478Ser					SYVN1_uc001odc.2_Missense_Mutation_p.P477S|SYVN1_uc009yqc.2_Missense_Mutation_p.P426S	p.P478S	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN			14	1526	-			478			Pro-rich.|Cytoplasmic (Potential).		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	c.1432C>T	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373044	0.42105	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060	T;T;T;T	0.17854	2.25;2.31;2.29;2.31	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.992	T	0.11494	-1.0585	10	0.62326	D	0.03	-11.1042	14.9632	0.71171	0.0:0.0:1.0:0.0	.	426;477;478	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	S	478;477;478;426;477	ENSP00000366395:P478S;ENSP00000294256:P477S;ENSP00000302035:P426S;ENSP00000436984:P477S	ENSP00000294256:P477S	P	-	1	0	SYVN1	64653940	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	8.504000	0.90512	2.405000	0.81733	0.561000	0.74099	CCT		0.657	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		5	22	0	0	0	0	5	22				
SLC22A20	440044	broad.mit.edu	37	11	65000797	65000798	+	RNA	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:65000797_65000798CC>TT	ENST00000525437.1	+	0	1258_1259							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CTCATCCTGGCCGGGCTCATGG	0.609																																						uc010roc.1		NA																	0				central_nervous_system(1)	1						c.(1219-1221)GCC>GTT		solute carrier family 22, member 20																																						440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:65000797_65000798CC>TT	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615	Exception_encountered	11.37:g.65000797_65000798delinsTT							p.A407V	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN			8	1223_1224	+			407			Helical; (Potential).		B9EJB2|Q6ZN88	Missense_Mutation	DNP	ENST00000525437.1	37	c.1220_1221CC>TT																																																																																					0.609	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		9	15	0	0	0	0	9	15				
PCNXL3	399909	broad.mit.edu	37	11	65398034	65398034	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:65398034G>A	ENST00000355703.3	+	27	4968	c.4429G>A	c.(4429-4431)Gtt>Att	p.V1477I	PCNXL3_ENST00000531280.1_3'UTR	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1477						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CATGCTGCAGGTTTTCGACCT	0.592																																						uc001oey.2		NA																	0					0						c.(4429-4431)GTT>ATT		pecanex-like 3							62.0	67.0	65.0					11																	65398034		2101	4215	6316	SO:0001583	missense	399909					integral to membrane		g.chr11:65398034G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4429G>A	11.37:g.65398034G>A	ENSP00000347931:p.Val1477Ile					PCNXL3_uc001oez.2_Missense_Mutation_p.V364I	p.V1477I	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			27	4429	+			1477					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.4429G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121762	0.77436	.	.	ENSG00000197136	ENST00000355703	T	0.10763	2.84	5.02	5.02	0.67125	.	0.147355	0.44688	N	0.000434	T	0.21468	0.0517	M	0.80982	2.52	0.45867	D	0.99872	B;D	0.53151	0.011;0.958	B;P	0.45406	0.03;0.479	T	0.02588	-1.1137	10	0.54805	T	0.06	.	15.9434	0.79776	0.0:0.0:1.0:0.0	.	364;1477	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	I	1477	ENSP00000347931:V1477I	ENSP00000347931:V1477I	V	+	1	0	PCNXL3	65154610	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.438000	0.80431	2.637000	0.89404	0.650000	0.86243	GTT		0.592	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		12	44	0	0	0	0	12	44				
MUS81	80198	broad.mit.edu	37	11	65633309	65633309	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:65633309C>T	ENST00000308110.4	+	15	1882	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Silent_p.A436A	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	511					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ATGCCTGTGCCACCCCCAAGG	0.627								Homologous recombination																														uc001ofv.3		NA																	0					0						c.(1531-1533)GCC>GCT	Homologous_recombination	MUS81 endonuclease homolog							89.0	93.0	91.0					11																	65633309		2201	4296	6497	SO:0001819	synonymous_variant	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65633309C>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1533C>T	11.37:g.65633309C>T						MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_Silent_p.A68A	p.A511A	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	15	1886	+			511					Q9H7D9	Silent	SNP	ENST00000308110.4	37	c.1533C>T	CCDS8115.1																																																																																				0.627	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		17	101	0	0	0	0	17	101				
PACS1	55690	broad.mit.edu	37	11	66002814	66002814	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66002814G>A	ENST00000320580.4	+	18	2180	c.2147G>A	c.(2146-2148)gGg>gAg	p.G716E	PACS1_ENST00000529757.1_Missense_Mutation_p.G252E	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	716					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TACGTCAACGGGGCAGCCACG	0.537																																						uc001oha.1		NA																	0				ovary(6)	6						c.(2146-2148)GGG>GAG		phosphofurin acidic cluster sorting protein 1							69.0	65.0	66.0					11																	66002814		2200	4295	6495	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66002814G>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2147G>A	11.37:g.66002814G>A	ENSP00000316454:p.Gly716Glu					PACS1_uc010rou.1_Missense_Mutation_p.G252E	p.G716E	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			18	2281	+			716					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.2147G>A	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219784	0.95139	.	.	ENSG00000175115	ENST00000320580;ENST00000529757	T;T	0.50813	0.73;0.73	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67063	-0.5765	10	0.52906	T	0.07	-28.1458	17.5073	0.87749	0.0:0.0:1.0:0.0	.	716	Q6VY07	PACS1_HUMAN	E	716;252	ENSP00000316454:G716E;ENSP00000432858:G252E	ENSP00000316454:G716E	G	+	2	0	PACS1	65759390	1.000000	0.71417	0.858000	0.33744	0.935000	0.57460	9.339000	0.96797	2.668000	0.90789	0.655000	0.94253	GGG		0.537	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		26	59	0	0	0	0	26	59				
CD248	57124	broad.mit.edu	37	11	66082791	66082791	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66082791G>A	ENST00000311330.3	-	1	1724	c.1708C>T	c.(1708-1710)Cca>Tca	p.P570S	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	570	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						AGGGCATCTGGGGCTTGAGGG	0.637																																						uc001ohm.1		NA																	0				large_intestine(3)	3						c.(1708-1710)CCA>TCA		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						103.0	113.0	110.0					11																	66082791		2200	4295	6495	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082791G>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1708C>T	11.37:g.66082791G>A	ENSP00000308117:p.Pro570Ser						p.P570S	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	1725	-			570			Pro-rich.|Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.1708C>T	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662490	0.29515	.	.	ENSG00000174807	ENST00000311330	D	0.88975	-2.45	4.09	2.14	0.27477	.	6.587240	0.00725	N	0.000915	D	0.84991	0.5595	L	0.40543	1.245	0.09310	N	1	B	0.18461	0.028	B	0.16722	0.016	T	0.68953	-0.5273	10	0.87932	D	0	-0.1022	4.7322	0.12970	0.1048:0.0:0.5117:0.3835	.	570	Q9HCU0	CD248_HUMAN	S	570	ENSP00000308117:P570S	ENSP00000308117:P570S	P	-	1	0	CD248	65839367	0.687000	0.27671	0.016000	0.15963	0.138000	0.21146	1.032000	0.30178	0.456000	0.26937	0.460000	0.39030	CCA		0.637	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		53	92	0	0	0	0	53	92				
ACTN3	89	broad.mit.edu	37	11	66319003	66319003	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66319003G>A	ENST00000502692.1	+	0	512				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						ACCCAGGTGAGAGGCTGCCTA	0.547																																						uc001oio.1		NA																	0					0						c.(265-267)GAG>GAA		actinin, alpha 3							38.0	40.0	39.0					11																	66319003		2098	4246	6344			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66319003G>A	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66319003G>A						ACTN3_uc010rpi.1_RNA	p.E89E	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			3	285	+			89			Actin-binding.|CH 1.		A6NP77|Q4KKV2	Silent	SNP	ENST00000502692.1	37	c.267G>A																																																																																					0.547	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		3	22	0	0	0	0	3	22				
CTSF	8722	broad.mit.edu	37	11	66330270	66330270	+	IGR	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66330270G>A	ENST00000310325.5	-	0	2035				CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCTGCAGGGGGAAGTGGAGTT	0.597																																						uc001oio.1		NA																	0					0						c.(2392-2394)GAA>AAA		actinin, alpha 3							144.0	158.0	154.0					11																	66330270		2195	4292	6487	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66330270G>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330270G>A						ACTN3_uc010rpi.1_RNA	p.E798K	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			21	2410	+			798			EF-hand 2.		B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.2392G>A	CCDS8144.1																																																																																				0.597	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		31	176	0	0	0	0	31	176				
CTSF	8722	broad.mit.edu	37	11	66330648	66330648	+	IGR	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66330648G>A	ENST00000310325.5	-	0	2035				CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCCCTCTATGGGGAGAGCGAC	0.622																																						uc001oio.1		NA																	0					0						c.(2689-2691)GGG>GAG		actinin, alpha 3							43.0	45.0	45.0					11																	66330648		1986	4152	6138	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66330648G>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330648G>A						ACTN3_uc010rpi.1_RNA	p.G897E	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			22	2708	+			897					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.2690G>A	CCDS8144.1																																																																																				0.622	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		14	62	0	0	0	0	14	62				
RBM14	10432	broad.mit.edu	37	11	66391953	66391953	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66391953C>T	ENST00000310137.4	+	2	745	c.606C>T	c.(604-606)gcC>gcT	p.A202A	RBM14_ENST00000461478.1_3'UTR|RBM14_ENST00000409372.1_3'UTR|RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	202					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ATGGGCAAGCCCGTCAGCCCA	0.632																																						uc001oit.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(604-606)GCC>GCT		RNA binding motif protein 14							53.0	53.0	53.0					11																	66391953		2200	4295	6495	SO:0001819	synonymous_variant	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66391953C>T	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.606C>T	11.37:g.66391953C>T						RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	p.A202A	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN			2	745	+			202					B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	ENST00000310137.4	37	c.606C>T	CCDS8147.1																																																																																				0.632	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		10	55	0	0	0	0	10	55				
SPTBN2	6712	broad.mit.edu	37	11	66460040	66460040	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66460040G>A	ENST00000533211.1	-	26	5488	c.5157C>T	c.(5155-5157)tcC>tcT	p.S1719S	SPTBN2_ENST00000529997.1_Silent_p.S1719S|SPTBN2_ENST00000309996.2_Silent_p.S1719S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1719					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						CCAGCTCGTGGGAGGCCGCCA	0.662																																						uc001ojd.2		NA																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(5155-5157)TCC>TCT		spectrin, beta, non-erythrocytic 2							63.0	58.0	59.0					11																	66460040		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460040G>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.5157C>T	11.37:g.66460040G>A							p.S1719S	NM_006946	NP_008877	O15020	SPTN2_HUMAN			25	5229	-			1719			Spectrin 14.		O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.5157C>T	CCDS8150.1																																																																																				0.662	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		13	48	0	0	0	0	13	48				
SPTBN2	6712	broad.mit.edu	37	11	66463938	66463938	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66463938C>T	ENST00000533211.1	-	21	4419	c.4088G>A	c.(4087-4089)aGg>aAg	p.R1363K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1363K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1363K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1363					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						GTCCCAGCGCCTGTGCAGGTC	0.602																																						uc001ojd.2		NA																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4087-4089)AGG>AAG		spectrin, beta, non-erythrocytic 2							100.0	110.0	106.0					11																	66463938		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66463938C>T	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.4088G>A	11.37:g.66463938C>T	ENSP00000432568:p.Arg1363Lys						p.R1363K	NM_006946	NP_008877	O15020	SPTN2_HUMAN			20	4160	-			1363			Spectrin 10.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4088G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	3.705	-0.060696	0.07317	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.48201	0.82;0.82;0.82	4.7	-2.26	0.06867	.	0.847373	0.10448	N	0.673460	T	0.25494	0.0620	N	0.20328	0.56	0.19575	N	0.999967	B	0.02656	0.0	B	0.06405	0.002	T	0.33752	-0.9856	10	0.05436	T	0.98	.	10.7588	0.46253	0.0:0.2044:0.0:0.7956	.	1363	O15020	SPTN2_HUMAN	K	1363	ENSP00000432568:R1363K;ENSP00000311489:R1363K;ENSP00000433593:R1363K	ENSP00000311489:R1363K	R	-	2	0	SPTBN2	66220514	0.000000	0.05858	0.168000	0.22838	0.946000	0.59487	-0.700000	0.05081	-0.569000	0.06030	0.557000	0.71058	AGG		0.602	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		21	137	0	0	0	0	21	137				
ALDH3B2	222	broad.mit.edu	37	11	67433649	67433649	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:67433649C>T	ENST00000349015.3	-	6	701	c.263G>A	c.(262-264)gGa>gAa	p.G88E	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.G88E|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	88					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CTCCTGGGGTCCGCCCAGCAC	0.642																																						uc001omr.2		NA																	0				lung(1)|kidney(1)	2						c.(262-264)GGA>GAA		aldehyde dehydrogenase 3B2	NADH(DB00157)						91.0	92.0	91.0					11																	67433649		2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433649C>T	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.263G>A	11.37:g.67433649C>T	ENSP00000255084:p.Gly88Glu					ALDH3B2_uc001oms.2_Missense_Mutation_p.G88E|ALDH3B2_uc009ysa.1_Missense_Mutation_p.G88E	p.G88E	NM_000695	NP_000686	P48448	AL3B2_HUMAN			6	702	-			88					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.263G>A	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484302	0.63962	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827;ENST00000528756	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	3.19	2.27	0.28462	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.124740	0.52532	D	0.000062	D	0.91543	0.7329	M	0.85542	2.76	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	D	0.91533	0.5244	10	0.72032	D	0.01	.	10.7417	0.46158	0.0:0.9005:0.0:0.0995	.	88	P48448	AL3B2_HUMAN	E	88	ENSP00000431595:G88E;ENSP00000255084:G88E;ENSP00000433718:G88E;ENSP00000433466:G88E	ENSP00000255084:G88E	G	-	2	0	ALDH3B2	67190225	0.997000	0.39634	0.544000	0.28141	0.820000	0.46376	5.181000	0.65054	0.914000	0.36822	0.563000	0.77884	GGA		0.642	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		16	100	0	0	0	0	16	100				
SHANK2	22941	broad.mit.edu	37	11	70506043	70506043	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:70506043C>T	ENST00000423696.2	-	7	850	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	SHANK2_ENST00000409530.1_Missense_Mutation_p.E62K|SHANK2_ENST00000357171.3_Missense_Mutation_p.E63K|SHANK2_ENST00000338508.4_Missense_Mutation_p.E652K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E63K|SHANK2_ENST00000449116.2_Missense_Mutation_p.E63K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E62K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	272	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTGAATTCTTCAATGGGTGTG	0.582																																						uc001oqc.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1951-1953)GAA>AAA		SH3 and multiple ankyrin repeat domains 2							125.0	103.0	110.0					11																	70506043		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70506043C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.814G>A	11.37:g.70506043C>T	ENSP00000394536:p.Glu272Lys					SHANK2_uc010rqn.1_Missense_Mutation_p.E63K|SHANK2_uc001opz.2_Missense_Mutation_p.E63K|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.E63K	p.E651K	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		14	2029	-			272			PDZ.		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.1951G>A		.	.	.	.	.	.	.	.	.	.	C	29.6	5.017330	0.93404	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171	T;T;T;T;T;T;T;T	0.56776	2.16;2.16;0.92;2.28;2.29;0.84;0.44;0.85	5.0	5.0	0.66597	PDZ/DHR/GLGF (4);	0.183375	0.47093	N	0.000246	T	0.53449	0.1797	N	0.04203	-0.255	0.80722	D	1	D;D;D;P	0.89917	1.0;0.995;0.999;0.887	D;D;D;P	0.91635	0.999;0.98;0.994;0.669	T	0.66384	-0.5937	10	0.52906	T	0.07	.	18.3133	0.90208	0.0:1.0:0.0:0.0	.	63;272;651;63	B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4	.;SHAN2_HUMAN;.;.	K	63;62;652;272;286;282;62;63;63	ENSP00000399423:E63K;ENSP00000386491:E62K;ENSP00000345193:E652K;ENSP00000394536:E272K;ENSP00000294018:E282K;ENSP00000387324:E62K;ENSP00000394939:E63K;ENSP00000349694:E63K	ENSP00000294018:E282K	E	-	1	0	SHANK2	70183691	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	7.397000	0.79903	2.309000	0.77851	0.655000	0.94253	GAA		0.582	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	43	0	0	0	0	4	43				
FCHSD2	9873	broad.mit.edu	37	11	72553697	72553697	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:72553697T>A	ENST00000409418.4	-	17	2278	c.1895A>T	c.(1894-1896)aAt>aTt	p.N632I	FCHSD2_ENST00000311172.7_Missense_Mutation_p.N576I|FCHSD2_ENST00000458644.2_Missense_Mutation_p.N496I|FCHSD2_ENST00000409314.1_Missense_Mutation_p.N656I|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409263.1_Intron	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	632										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AGTGTCACCATTTTCTGAGGC	0.438																																						uc009ytl.2		NA																	0				ovary(1)	1						c.(1894-1896)AAT>ATT		FCH and double SH3 domains 2							119.0	114.0	116.0					11																	72553697		2200	4293	6493	SO:0001583	missense	9873						protein binding	g.chr11:72553697T>A	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1895A>T	11.37:g.72553697T>A	ENSP00000386722:p.Asn632Ile					FCHSD2_uc010rrg.1_Missense_Mutation_p.N496I|FCHSD2_uc001oth.3_Missense_Mutation_p.N576I|ATG16L2_uc009ytj.1_3'UTR	p.N632I	NM_014824	NP_055639	O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		17	2116	-			632					B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	c.1895A>T	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284585	0.80803	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	6.03	6.03	0.97812	Src homology-3 domain (1);	0.226336	0.46145	D	0.000308	T	0.41719	0.1171	L	0.48642	1.525	0.80722	D	1	D;P	0.62365	0.991;0.93	P;P	0.53689	0.732;0.564	T	0.15867	-1.0422	10	0.48119	T	0.1	-11.7888	15.7467	0.77949	0.0:0.0:0.0:1.0	.	496;632	E7ENZ2;O94868	.;FCSD2_HUMAN	I	576;656;632;496	ENSP00000308978:N576I;ENSP00000386987:N656I;ENSP00000386722:N632I;ENSP00000402972:N496I	ENSP00000308978:N576I	N	-	2	0	FCHSD2	72231345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.753000	0.62183	2.302000	0.77476	0.533000	0.62120	AAT		0.438	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		19	149	0	0	0	0	19	149				
ARHGEF17	9828	broad.mit.edu	37	11	73021299	73021300	+	Missense_Mutation	DNP	CC	CC	TT	rs373169732		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73021299_73021300CC>TT	ENST00000263674.3	+	1	1966_1967	c.1616_1617CC>TT	c.(1615-1617)gCC>gTT	p.A539V	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	539					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GACTTGACAGCCACTCTGCGGA	0.639																																						uc001otu.2		NA																	0					0						c.(1615-1617)GCC>GTT		Rho guanine nucleotide exchange factor (GEF) 17																																				SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021299_73021300CC>TT	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	Exception_encountered	11.37:g.73021299_73021300delinsTT	ENSP00000263674:p.Ala539Val						p.A539V	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			1	1637_1638	+			539					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	DNP	ENST00000263674.3	37	c.1616_1617CC>TT	CCDS8221.1																																																																																				0.639	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		12	42	0	0	0	0	12	42				
ARHGEF17	9828	broad.mit.edu	37	11	73021729	73021730	+	Missense_Mutation	DNP	CC	CC	TT	rs367623424		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73021729_73021730CC>TT	ENST00000263674.3	+	1	2396_2397	c.2046_2047CC>TT	c.(2044-2049)ggCCct>ggTTct	p.P683S	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	683					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACCACCATGGCCCTGGGACTGA	0.658																																						uc001otu.2		NA																	0					0						c.(2044-2049)GGCCCT>GGTTCT		Rho guanine nucleotide exchange factor (GEF) 17																																				SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021729_73021730CC>TT	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	Exception_encountered	11.37:g.73021729_73021730delinsTT	ENSP00000263674:p.Pro683Ser						p.P683S	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			1	2067_2068	+			683					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	DNP	ENST00000263674.3	37	c.2046_2047CC>TT	CCDS8221.1																																																																																				0.658	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		12	44	0	0	0	0	12	44				
C2CD3	26005	broad.mit.edu	37	11	73789715	73789715	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73789715G>A	ENST00000334126.7	-	23	4274	c.4048C>T	c.(4048-4050)Cct>Tct	p.P1350S	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1350S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1350					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGGCCATGAGGTAGGCCCCCG	0.453																																						uc001ouu.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(4048-4050)CCT>TCT		C2 calcium-dependent domain containing 3							66.0	62.0	63.0					11																	73789715		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73789715G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4048C>T	11.37:g.73789715G>A	ENSP00000334379:p.Pro1350Ser					C2CD3_uc001out.2_RNA	p.P1350S	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			23	4275	-	Breast(11;4.16e-06)		1350					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.4048C>T		.	.	.	.	.	.	.	.	.	.	G	7.738	0.700647	0.15106	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.38401	1.14;1.14;1.14	5.34	0.638	0.17742	.	0.536329	0.20896	N	0.083730	T	0.18087	0.0434	N	0.22421	0.69	0.09310	N	1	B	0.23249	0.082	B	0.25140	0.058	T	0.09796	-1.0658	10	0.25751	T	0.34	-0.1069	2.3112	0.04186	0.1917:0.1116:0.4473:0.2493	.	1350	Q4AC94-1	.	S	1350;1350;1350;158	ENSP00000334379:P1350S;ENSP00000323339:P1350S;ENSP00000388750:P158S	ENSP00000323339:P1350S	P	-	1	0	C2CD3	73467363	0.595000	0.26857	0.565000	0.28409	0.897000	0.52465	0.552000	0.23376	0.499000	0.27970	-0.367000	0.07326	CCT		0.453	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		21	95	0	0	0	0	21	95				
GAB2	9846	broad.mit.edu	37	11	77937683	77937683	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:77937683C>T	ENST00000361507.4	-	4	1120	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	GAB2_ENST00000340149.2_Silent_p.G307G|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	345					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGGCTGAGTCCCCAGGAGTGG	0.567																																						uc001ozh.2		NA																	0				ovary(5)|lung(1)	6						c.(1033-1035)GGG>GGA		GRB2-associated binding protein 2 isoform a							51.0	55.0	54.0					11																	77937683		2200	4292	6492	SO:0001819	synonymous_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937683C>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1035G>A	11.37:g.77937683C>T						GAB2_uc001ozg.2_Silent_p.G307G	p.G345G	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	1035	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		345					A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	c.1035G>A	CCDS8259.1																																																																																				0.567	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		11	80	0	0	0	0	11	80				
SYTL2	54843	broad.mit.edu	37	11	85445671	85445671	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:85445671G>A	ENST00000528231.1	-	6	975	c.698C>T	c.(697-699)cCa>cTa	p.P233L	SYTL2_ENST00000316356.4_Missense_Mutation_p.P234L|SYTL2_ENST00000524452.1_Missense_Mutation_p.P233L|SYTL2_ENST00000389960.4_Missense_Mutation_p.P233L|SYTL2_ENST00000527523.1_Missense_Mutation_p.P185L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	233					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTGGGGATTGGAGCCTTGAT	0.408																																						uc010rth.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(697-699)CCA>CTA		synaptotagmin-like 2 isoform g							109.0	110.0	110.0					11																	85445671		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445671G>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.698C>T	11.37:g.85445671G>A	ENSP00000431701:p.Pro233Leu					SYTL2_uc010rtg.1_Missense_Mutation_p.P234L|SYTL2_uc010rti.1_Missense_Mutation_p.P233L|SYTL2_uc010rtj.1_Missense_Mutation_p.P185L|SYTL2_uc001pbf.3_Missense_Mutation_p.P233L|SYTL2_uc010rtf.1_Missense_Mutation_p.P91L	p.P233L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	974	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	233					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.698C>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462402	0.84425	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.52983	0.64;1.03;1.07;0.95;0.64	5.92	5.92	0.95590	.	.	.	.	.	T	0.69033	0.3066	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.991;1.0;1.0;1.0	D;P;D;D;D	0.97110	1.0;0.881;0.995;0.998;0.992	T	0.65442	-0.6167	8	.	.	.	.	19.9374	0.97146	0.0:0.0:1.0:0.0	.	185;233;233;234;91	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	L	233;234;233;185;233	ENSP00000374610:P233L;ENSP00000318803:P234L;ENSP00000431701:P233L;ENSP00000434010:P185L;ENSP00000435238:P233L	.	P	-	2	0	SYTL2	85123319	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	6.541000	0.73865	2.794000	0.96219	0.650000	0.86243	CCA		0.408	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		17	70	0	0	0	0	17	70				
GRM5	2915	broad.mit.edu	37	11	88780752	88780752	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:88780752C>T	ENST00000305447.4	-	1	438	c.289G>A	c.(289-291)Gac>Aac	p.D97N	GRM5_ENST00000393297.1_Missense_Mutation_p.D97N|GRM5_ENST00000305432.5_Missense_Mutation_p.D97N|GRM5_ENST00000393294.3_Missense_Mutation_p.D97N|GRM5_ENST00000418177.2_Missense_Mutation_p.D97N|GRM5_ENST00000455756.2_Missense_Mutation_p.D97N	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	97					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CAGCAGGAGTCCCTTATCTCA	0.512																																						uc001pcq.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(289-291)GAC>AAC		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						95.0	81.0	86.0					11																	88780752		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780752C>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.289G>A	11.37:g.88780752C>T	ENSP00000306138:p.Asp97Asn					GRM5_uc009yvm.2_Missense_Mutation_p.D97N|GRM5_uc009yvn.1_Missense_Mutation_p.D97N	p.D97N	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	489	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	97			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.289G>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795411	0.90453	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.38	5.38	0.77491	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.96073	0.9047	9	.	.	.	.	19.1332	0.93415	0.0:1.0:0.0:0.0	.	97;97;97	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	N	97	ENSP00000402912:D97N;ENSP00000405690:D97N;ENSP00000305905:D97N;ENSP00000306138:D97N;ENSP00000376975:D97N;ENSP00000376972:D97N	.	D	-	1	0	GRM5	88420400	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	7.666000	0.83877	2.502000	0.84385	0.563000	0.77884	GAC		0.512	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		9	26	0	0	0	0	9	26				
TYR	7299	broad.mit.edu	37	11	88911532	88911533	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:88911532_88911533CC>AT	ENST00000263321.5	+	1	913_914	c.411_412CC>AT	c.(409-414)taCCtc>taATtc	p.137_138YL>*F	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	137					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TTTTTGCCTACCTCACTTTAGC	0.441																																						uc001pcs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(409-414)TACCTC>TAATTC		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)																																			SO:0001587	stop_gained	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911532_88911533CC>AT	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	Exception_encountered	11.37:g.88911532_88911533delinsAT	ENSP00000263321:p.Y137_L138delins*F						p.137_138YL>*F	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	493_494	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	137_138			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Nonsense_Mutation	DNP	ENST00000263321.5	37	c.411_412CC>AT	CCDS8284.1																																																																																				0.441	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		24	194	0	0	0	0	24	194				
NAALAD2	10003	broad.mit.edu	37	11	89902144	89902144	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:89902144G>C	ENST00000534061.1	+	12	1556	c.1326G>C	c.(1324-1326)tcG>tcC	p.S442S	NAALAD2_ENST00000321955.4_Silent_p.S409S|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	442	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATATCAACTCGGATTCATCTA	0.294																																						uc001pdf.3		NA																	0				pancreas(1)|skin(1)	2						c.(1324-1326)TCG>TCC		N-acetylated alpha-linked acidic dipeptidase 2							56.0	60.0	59.0					11																	89902144		2201	4295	6496	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89902144G>C	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1326G>C	11.37:g.89902144G>C						NAALAD2_uc009yvx.2_Silent_p.S409S|NAALAD2_uc009yvy.2_Intron	p.S442S	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			12	1435	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	442			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.1326G>C	CCDS8288.1																																																																																				0.294	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		8	73	0	0	0	0	8	73				
FAT3	120114	broad.mit.edu	37	11	92624018	92624018	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:92624018G>A	ENST00000298047.6	+	27	13526	c.13509G>A	c.(13507-13509)acG>acA	p.T4503T	FAT3_ENST00000409404.2_Silent_p.T4471T|FAT3_ENST00000533797.1_Silent_p.T806T|FAT3_ENST00000525166.1_Silent_p.T4353T|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4503	Pro-rich.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAACGAAACGGATTTGGTGG	0.582										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(13411-13413)ACG>ACA		FAT tumor suppressor homolog 3							41.0	43.0	42.0					11																	92624018		1973	4144	6117	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92624018G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13509G>A	11.37:g.92624018G>A		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.T943T	p.T4471T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			25	13430	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4503			Pro-rich.|Cytoplasmic (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.13413G>A																																																																																					0.582	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		15	32	0	0	0	0	15	32				
GPR83	10888	broad.mit.edu	37	11	94129658	94129658	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94129658C>T	ENST00000243673.2	-	2	591	c.420G>A	c.(418-420)ggG>ggA	p.G140G	GPR83_ENST00000539203.2_Intron	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	140					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACATGCCCTTCCCAAATATCC	0.547																																						uc001pet.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(418-420)GGG>GGA		G protein-coupled receptor 83 precursor							146.0	112.0	123.0					11																	94129658		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94129658C>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.420G>A	11.37:g.94129658C>T							p.G140G	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			2	592	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	140			Extracellular (Potential).		B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.420G>A	CCDS8297.1																																																																																				0.547	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		18	37	0	0	0	0	18	37				
ANKRD49	54851	broad.mit.edu	37	11	94230098	94230098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94230098G>A	ENST00000544612.1	+	2	736	c.239G>A	c.(238-240)tGg>tAg	p.W80*	ANKRD49_ENST00000540349.1_Nonsense_Mutation_p.W80*|ANKRD49_ENST00000544253.1_Nonsense_Mutation_p.W80*|ANKRD49_ENST00000302755.4_Nonsense_Mutation_p.W80*	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	80					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGCTTCTTTGGGCTGCTGAA	0.393																																					Melanoma(113;823 1621 4352 9582 22033)	uc001pew.2		NA																	0				central_nervous_system(1)	1						c.(238-240)TGG>TAG		fetal globin inducing factor							61.0	70.0	67.0					11																	94230098		2165	4287	6452	SO:0001587	stop_gained	54851				positive regulation of transcription, DNA-dependent			g.chr11:94230098G>A	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.239G>A	11.37:g.94230098G>A	ENSP00000440396:p.Trp80*					ANKRD49_uc001pex.2_Nonsense_Mutation_p.W80*|ANKRD49_uc001pey.2_5'Flank	p.W80*	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN			2	378	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	80			ANK 1.		Q8NDF2|Q96JE5|Q9NXK7	Nonsense_Mutation	SNP	ENST00000544612.1	37	c.239G>A	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387554	0.95988	.	.	ENSG00000168876	ENST00000544612;ENST00000540349;ENST00000545130;ENST00000544253;ENST00000541144;ENST00000302755	.	.	.	5.99	5.99	0.97316	.	0.108957	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-2.8541	15.2218	0.73316	0.0:0.0:0.8595:0.1405	.	.	.	.	X	80	.	ENSP00000303518:W80X	W	+	2	0	ANKRD49	93869746	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.503000	0.90509	2.840000	0.97914	0.655000	0.94253	TGG		0.393	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		27	109	0	0	0	0	27	109				
KDM4E	390245	broad.mit.edu	37	11	94759406	94759406	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94759406C>T	ENST00000450979.2	+	1	985	c.685C>T	c.(685-687)Cca>Tca	p.P229S		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	229	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GGAGCTCTTCCCAGACATTTC	0.552																																						uc010ruf.1		NA																	0					0						c.(685-687)CCA>TCA		lysine (K)-specific demethylase 4D-like							46.0	46.0	46.0					11																	94759406		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759406C>T	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.685C>T	11.37:g.94759406C>T	ENSP00000397239:p.Pro229Ser						p.P229S	NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN			1	985	+			229			JmjC.			Missense_Mutation	SNP	ENST00000450979.2	37	c.685C>T	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	c	9.182	1.023846	0.19433	.	.	ENSG00000235268	ENST00000450979	T	0.69806	-0.43	2.84	1.9	0.25705	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	.	.	.	.	T	0.78515	0.4295	M	0.80183	2.485	0.34096	D	0.661252	D	0.89917	1.0	D	0.85130	0.997	T	0.81455	-0.0925	9	0.56958	D	0.05	-23.7127	7.0219	0.24918	0.0:0.8516:0.0:0.1484	.	229	B2RXH2	KD4DL_HUMAN	S	229	ENSP00000397239:P229S	ENSP00000397239:P229S	P	+	1	0	KDM4DL	94399054	1.000000	0.71417	0.406000	0.26421	0.007000	0.05969	5.238000	0.65366	1.543000	0.49345	0.455000	0.32223	CCA		0.552	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		12	42	0	0	0	0	12	42				
KDM4E	390245	broad.mit.edu	37	11	94759491	94759491	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94759491C>T	ENST00000450979.2	+	1	1070	c.770C>T	c.(769-771)cCc>cTc	p.P257L		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	257	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AATGGGATTCCCTTCAATTGC	0.547																																						uc010ruf.1		NA																	0					0						c.(769-771)CCC>CTC		lysine (K)-specific demethylase 4D-like							26.0	26.0	26.0					11																	94759491		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759491C>T	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.770C>T	11.37:g.94759491C>T	ENSP00000397239:p.Pro257Leu						p.P257L	NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN			1	1070	+			257			JmjC.			Missense_Mutation	SNP	ENST00000450979.2	37	c.770C>T	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	c	12.73	2.025958	0.35701	.	.	ENSG00000235268	ENST00000450979	T	0.74209	-0.82	2.18	2.18	0.27775	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	.	.	.	.	D	0.87014	0.6072	M	0.91300	3.195	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.88446	0.3045	9	0.87932	D	0	-21.1033	10.4356	0.44433	0.0:1.0:0.0:0.0	.	257	B2RXH2	KD4DL_HUMAN	L	257	ENSP00000397239:P257L	ENSP00000397239:P257L	P	+	2	0	KDM4DL	94399139	1.000000	0.71417	0.414000	0.26521	0.040000	0.13550	3.053000	0.49901	1.543000	0.49345	0.455000	0.32223	CCC		0.547	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		9	42	0	0	0	0	9	42				
MMP27	64066	broad.mit.edu	37	11	102567462	102567462	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:102567462C>T	ENST00000260229.4	-	5	815	c.724G>A	c.(724-726)Gat>Aat	p.D242N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	242					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TTTCTGGGATCCAGGGAGACA	0.403																																						uc001phd.1		NA																	0				ovary(2)|skin(1)	3						c.(724-726)GAT>AAT		matrix metalloproteinase 27 precursor							86.0	83.0	84.0					11																	102567462		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102567462C>T	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.724G>A	11.37:g.102567462C>T	ENSP00000260229:p.Asp242Asn						p.D242N	NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	5	747	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	242					Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.724G>A	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768787	0.49680	.	.	ENSG00000137675	ENST00000260229	T	0.52057	0.68	5.74	3.88	0.44766	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.401729	0.24050	N	0.042005	T	0.40196	0.1107	L	0.41027	1.25	0.34376	D	0.692595	B	0.16802	0.019	B	0.30029	0.11	T	0.46638	-0.9177	10	0.32370	T	0.25	.	10.2367	0.43288	0.0:0.7713:0.0:0.2287	.	242	Q9H306	MMP27_HUMAN	N	242	ENSP00000260229:D242N	ENSP00000260229:D242N	D	-	1	0	MMP27	102072672	0.991000	0.36638	1.000000	0.80357	0.928000	0.56348	1.788000	0.38714	0.791000	0.33826	0.591000	0.81541	GAT		0.403	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		10	44	0	0	0	0	10	44				
MMP13	4322	broad.mit.edu	37	11	102825319	102825319	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:102825319G>A	ENST00000260302.3	-	3	407	c.379C>T	c.(379-381)Cct>Tct	p.P127S	MMP13_ENST00000340273.4_Missense_Mutation_p.P127S	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	127					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GTCATATCAGGGGTGTAATTC	0.343																																						uc001phl.2		NA																	0				ovary(2)|skin(1)	3						c.(379-381)CCT>TCT		matrix metalloproteinase 13 preproprotein							74.0	78.0	77.0					11																	102825319		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102825319G>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.379C>T	11.37:g.102825319G>A	ENSP00000260302:p.Pro127Ser						p.P127S	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	3	407	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	127					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.379C>T	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737183	0.49045	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.53206	0.63;0.63	5.99	5.03	0.67393	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.099573	0.64402	D	0.000001	T	0.45115	0.1326	L	0.50919	1.6	0.58432	D	0.999999	P	0.35192	0.489	B	0.39805	0.31	T	0.42949	-0.9421	10	0.52906	T	0.07	.	10.535	0.44998	0.0768:0.1368:0.7864:0.0	.	127	P45452	MMP13_HUMAN	S	127	ENSP00000260302:P127S;ENSP00000339672:P127S	ENSP00000260302:P127S	P	-	1	0	MMP13	102330529	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	4.785000	0.62418	2.847000	0.97988	0.655000	0.94253	CCT		0.343	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		23	61	0	0	0	0	23	61				
DYNC2H1	79659	broad.mit.edu	37	11	103006531	103006531	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:103006531C>T	ENST00000375735.2	+	17	2572	c.2428C>T	c.(2428-2430)Cca>Tca	p.P810S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P810S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	810	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATCGGCATTCCAAATCAGTT	0.358																																						uc001pho.2		NA																	0					0						c.(2428-2430)CCA>TCA		dynein, cytoplasmic 2, heavy chain 1							63.0	59.0	60.0					11																	103006531		1810	4066	5876	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103006531C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2428C>T	11.37:g.103006531C>T	ENSP00000364887:p.Pro810Ser					DYNC2H1_uc001phn.1_Missense_Mutation_p.P810S|DYNC2H1_uc009yxe.1_Intron	p.P810S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	17	2572	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	810			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.2428C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585559	0.86748	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.33216	1.42;1.42	5.3	5.3	0.74995	.	0.000000	0.64402	U	0.000007	T	0.64216	0.2578	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66512	-0.5905	10	0.23891	T	0.37	.	18.9844	0.92764	0.0:1.0:0.0:0.0	.	810;810	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	810	ENSP00000364887:P810S;ENSP00000381167:P810S	ENSP00000364887:P810S	P	+	1	0	DYNC2H1	102511741	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	7.445000	0.80570	2.477000	0.83638	0.563000	0.77884	CCA		0.358	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		6	39	0	0	0	0	6	39				
CASP5	838	broad.mit.edu	37	11	104878062	104878062	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:104878062C>T	ENST00000260315.3	-	3	181		c.e3-1		CASP5_ENST00000393139.2_Splice_Site|CASP5_ENST00000393141.2_Splice_Site|CASP5_ENST00000526056.1_Splice_Site|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000444749.2_Splice_Site|CASP5_ENST00000418434.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TGGTTGTCTTCTGTCAGAAAT	0.353																																						uc010rva.1		NA																	0				ovary(2)|lung(1)	3						c.e3-1		caspase 5 isoform a precursor							92.0	90.0	91.0					11																	104878062		2202	4299	6501	SO:0001630	splice_region_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104878062C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.182-1G>A	11.37:g.104878062C>T						CASP5_uc010ruz.1_Splice_Site_p.K74_splice|CASP5_uc010rvb.1_Splice_Site_p.E3_splice|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Splice_Site|CASP5_uc010rvd.1_Intron	p.K61_splice	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	3	214	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)						B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Splice_Site	SNP	ENST00000260315.3	37	c.182_splice	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365391	0.24684	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000456094	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5802	0.50887	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CASP5	104383272	0.992000	0.36948	0.311000	0.25182	0.008000	0.06430	3.402000	0.52608	2.168000	0.68352	0.591000	0.81541	.		0.353	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	Intron	15	97	0	0	0	0	15	97				
GRIA4	2893	broad.mit.edu	37	11	105789574	105789574	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:105789574A>T	ENST00000530497.1	+	10	1406	c.1406A>T	c.(1405-1407)gAt>gTt	p.D469V	GRIA4_ENST00000393127.2_Missense_Mutation_p.D469V|GRIA4_ENST00000282499.5_Missense_Mutation_p.D469V|GRIA4_ENST00000525187.1_Missense_Mutation_p.D469V			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	469					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATTGTCCCTGATGGAAAATAT	0.358																																						uc001pix.2		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1405-1407)GAT>GTT		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						109.0	104.0	106.0					11																	105789574		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105789574A>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1406A>T	11.37:g.105789574A>T	ENSP00000435775:p.Asp469Val					GRIA4_uc001piw.2_Missense_Mutation_p.D469V	p.D469V	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	11	1852	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	469			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1406A>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.873249	0.91664	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.68	5.68	0.88126	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000001	D	0.94565	0.8249	H	0.98238	4.18	0.80722	D	1	D;D	0.67145	0.996;0.995	D;D	0.74348	0.983;0.937	D	0.96527	0.9390	10	0.87932	D	0	.	16.2322	0.82352	1.0:0.0:0.0:0.0	.	469;469	P48058;G3V164	GRIA4_HUMAN;.	V	469	ENSP00000282499:D469V;ENSP00000376835:D469V;ENSP00000435775:D469V;ENSP00000432180:D469V	ENSP00000282499:D469V	D	+	2	0	GRIA4	105294784	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.494000	0.81503	2.288000	0.76882	0.528000	0.53228	GAT		0.358	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			14	34	0	0	0	0	14	34				
NPAT	4863	broad.mit.edu	37	11	108031734	108031734	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:108031734C>T	ENST00000278612.8	-	17	4184	c.4079G>A	c.(4078-4080)aGa>aAa	p.R1360K		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1360					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGAAGATGCTCTAAACTGTTG	0.403																																						uc001pjz.3		NA																	0				ovary(2)	2						c.(4078-4080)AGA>AAA		nuclear protein,  ataxia-telangiectasia locus							138.0	130.0	133.0					11																	108031734		1890	4106	5996	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108031734C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.4079G>A	11.37:g.108031734C>T	ENSP00000278612:p.Arg1360Lys					NPAT_uc010rvv.1_Missense_Mutation_p.R416K	p.R1360K	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	4181	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1360					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.4079G>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228664	0.58777	.	.	ENSG00000149308	ENST00000278612	T	0.04406	3.63	5.13	5.13	0.70059	.	0.165341	0.52532	D	0.000080	T	0.04497	0.0123	L	0.48642	1.525	0.33610	D	0.603446	P	0.37731	0.607	B	0.30782	0.12	T	0.31364	-0.9946	10	0.22706	T	0.39	-19.6052	9.6851	0.40094	0.0:0.8441:0.0:0.1559	.	1360	Q14207	NPAT_HUMAN	K	1360	ENSP00000278612:R1360K	ENSP00000278612:R1360K	R	-	2	0	NPAT	107536944	0.951000	0.32395	1.000000	0.80357	0.977000	0.68977	2.789000	0.47813	2.559000	0.86315	0.555000	0.69702	AGA		0.403	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		21	91	0	0	0	0	21	91				
C11orf65	160140	broad.mit.edu	37	11	108276232	108276232	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:108276232G>A	ENST00000529391.1	-	5	493	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	C11orf65_ENST00000393084.1_Missense_Mutation_p.H162Y|C11orf65_ENST00000525729.1_Missense_Mutation_p.H113Y|C11orf65_ENST00000526725.1_5'UTR			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	162										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TTAGAGAAATGGAATTCACTT	0.318																																						uc001pkh.2		NA																	0				ovary(1)	1						c.(484-486)CAT>TAT		hypothetical protein LOC160140							159.0	149.0	152.0					11																	108276232		2201	4298	6499	SO:0001583	missense	160140							g.chr11:108276232G>A	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.484C>T	11.37:g.108276232G>A	ENSP00000436400:p.His162Tyr					C11orf65_uc010rvx.1_Missense_Mutation_p.H113Y|C11orf65_uc009yxu.1_RNA	p.H162Y	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	6	554	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	162					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.484C>T	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860357	0.71834	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.18	4.26	0.50523	.	0.183724	0.45126	D	0.000392	T	0.47930	0.1472	M	0.76838	2.35	0.33069	D	0.535095	D;D	0.58620	0.983;0.983	P;P	0.55303	0.773;0.773	T	0.66221	-0.5978	10	0.72032	D	0.01	-14.55	11.5656	0.50802	0.0881:0.0:0.9119:0.0	.	113;162	B4DZU4;Q8NCR3	.;CK065_HUMAN	Y	113;162;162;144	ENSP00000433395:H113Y;ENSP00000436400:H162Y;ENSP00000376799:H162Y;ENSP00000434500:H144Y	ENSP00000376799:H162Y	H	-	1	0	C11orf65	107781442	1.000000	0.71417	0.987000	0.45799	0.954000	0.61252	4.476000	0.60216	1.298000	0.44778	0.563000	0.77884	CAT		0.318	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		14	69	0	0	0	0	14	69				
ZW10	9183	broad.mit.edu	37	11	113631062	113631062	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:113631062G>A	ENST00000200135.3	-	5	593	c.449C>T	c.(448-450)tCc>tTc	p.S150F		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	150	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GCATTTTCTGGATTTTAATAA	0.353																																						uc001poe.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(448-450)TCC>TTC		centromere/kinetochore protein zw10							83.0	83.0	83.0					11																	113631062		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113631062G>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.449C>T	11.37:g.113631062G>A	ENSP00000200135:p.Ser150Phe					ZW10_uc009yyv.2_RNA	p.S150F	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	5	486	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	150			Interaction with RINT1.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.449C>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141161	0.56936	.	.	ENSG00000086827	ENST00000200135	T	0.47177	0.85	5.12	4.21	0.49690	.	0.358892	0.32952	N	0.005443	T	0.52964	0.1767	L	0.60455	1.87	0.45015	D	0.998036	B	0.32396	0.369	B	0.43575	0.424	T	0.56805	-0.7918	10	0.56958	D	0.05	-1.9022	12.585	0.56412	0.0794:0.0:0.9206:0.0	.	150	O43264	ZW10_HUMAN	F	150	ENSP00000200135:S150F	ENSP00000200135:S150F	S	-	2	0	ZW10	113136272	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.724000	0.54962	1.388000	0.46506	0.484000	0.47621	TCC		0.353	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		17	65	0	0	0	0	17	65				
NXPE1	120400	broad.mit.edu	37	11	114392934	114392934	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:114392934C>G	ENST00000424269.1	-	5	1399	c.1400G>C	c.(1399-1401)aGa>aCa	p.R467T	NXPE1_ENST00000251921.2_Missense_Mutation_p.R325T|NXPE1_ENST00000536271.1_Missense_Mutation_p.R183T			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	467						extracellular region (GO:0005576)											GGCTGGGCTTCTTAGGAACAG	0.418																																						uc001ppa.2		NA																	0					0						c.(973-975)AGA>ACA		hypothetical protein LOC120400							146.0	142.0	144.0					11																	114392934		2201	4296	6497	SO:0001583	missense	120400					extracellular region		g.chr11:114392934C>G	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1400G>C	11.37:g.114392934C>G	ENSP00000411690:p.Arg467Thr					FAM55A_uc010rxd.1_Missense_Mutation_p.R174T	p.R325T	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	6	1391	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	467					B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.974G>C		.	.	.	.	.	.	.	.	.	.	C	19.02	3.746804	0.69418	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.25250	1.81;1.81;1.81	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000003	T	0.62024	0.2394	M	0.93854	3.465	0.36669	D	0.87837	D	0.69078	0.997	D	0.77004	0.989	T	0.77736	-0.2476	10	0.87932	D	0	.	16.9551	0.86257	0.0:1.0:0.0:0.0	.	467	Q8N323	FA55A_HUMAN	T	183;325;467	ENSP00000445200:R183T;ENSP00000251921:R325T;ENSP00000411690:R467T	ENSP00000251921:R325T	R	-	2	0	FAM55A	113898144	0.984000	0.35163	0.735000	0.30896	0.614000	0.37383	4.006000	0.57083	2.511000	0.84671	0.650000	0.86243	AGA		0.418	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		44	72	0	0	0	0	44	72				
NXPE2	120406	broad.mit.edu	37	11	114568989	114568989	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:114568989C>T	ENST00000389586.4	+	3	545	c.355C>T	c.(355-357)Cct>Tct	p.P119S	NXPE2_ENST00000375475.5_Missense_Mutation_p.P119S	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	119						integral component of membrane (GO:0016021)											CATCCTCAACCCTCAAGATAC	0.547																																						uc009yyy.2		NA																	0				ovary(1)	1						c.(355-357)CCT>TCT		hypothetical protein LOC120406							141.0	117.0	124.0					11																	114568989		692	1591	2283	SO:0001583	missense	120406					integral to membrane		g.chr11:114568989C>T	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.355C>T	11.37:g.114568989C>T	ENSP00000374237:p.Pro119Ser						p.P119S	NM_182495	NP_872301	Q96DL1	FA55B_HUMAN			3	453	+			119					Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	c.355C>T	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172444	0.38315	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.18657	2.74;2.2	4.66	4.66	0.58398	Immunoglobulin E-set (1);	0.256272	0.27807	N	0.017777	T	0.43144	0.1234	M	0.72894	2.215	0.23036	N	0.998395	D	0.65815	0.995	D	0.65323	0.934	T	0.26883	-1.0090	10	0.41790	T	0.15	.	15.0702	0.72030	0.0:1.0:0.0:0.0	.	119	Q96DL1	FA55B_HUMAN	S	119	ENSP00000374237:P119S;ENSP00000364624:P119S	ENSP00000364624:P119S	P	+	1	0	FAM55B	114074199	0.009000	0.17119	0.528000	0.27938	0.194000	0.23727	2.158000	0.42329	2.141000	0.66446	0.591000	0.81541	CCT		0.547	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		18	48	0	0	0	0	18	48				
BUD13	84811	broad.mit.edu	37	11	116631629	116631629	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:116631629G>A	ENST00000260210.4	-	5	1099	c.1076C>T	c.(1075-1077)cCa>cTa	p.P359L	BUD13_ENST00000375445.3_Missense_Mutation_p.P225L	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	359					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTTATGCCGTGGAGAAGAAAG	0.478																																						uc001ppn.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1075-1077)CCA>CTA		BUD13 homolog isoform 1							137.0	125.0	129.0					11																	116631629		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116631629G>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1076C>T	11.37:g.116631629G>A	ENSP00000260210:p.Pro359Leu					BUD13_uc001ppo.2_Missense_Mutation_p.P225L|BUD13_uc009yzc.2_Missense_Mutation_p.P359L	p.P359L	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	5	1110	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	359					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1076C>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676217	0.67928	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.23552	1.9;2.02	6.11	4.24	0.50183	.	0.165042	0.53938	D	0.000045	T	0.49184	0.1542	M	0.78916	2.43	0.58432	D	0.999999	P;D;P	0.71674	0.927;0.998;0.927	P;D;P	0.76575	0.714;0.988;0.516	T	0.53394	-0.8445	10	0.87932	D	0	-2.1548	10.5368	0.45009	0.2084:0.0:0.7916:0.0	.	359;225;359	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	L	225;359	ENSP00000364594:P225L;ENSP00000260210:P359L	ENSP00000260210:P359L	P	-	2	0	BUD13	116136839	0.997000	0.39634	0.937000	0.37676	0.500000	0.33767	4.255000	0.58804	1.602000	0.50124	0.655000	0.94253	CCA		0.478	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		14	65	0	0	0	0	14	65				
DSCAML1	57453	broad.mit.edu	37	11	117301448	117301448	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:117301448C>T	ENST00000321322.6	-	32	5857	c.5856G>A	c.(5854-5856)cgG>cgA	p.R1952R	DSCAML1_ENST00000527706.1_Silent_p.R1682R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1892					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTGTTGGCCCGGTGAGGGA	0.667																																						uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(5854-5856)CGG>CGA		Down syndrome cell adhesion molecule like 1							109.0	97.0	101.0					11																	117301448		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117301448C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5856G>A	11.37:g.117301448C>T							p.R1952R	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	32	5858	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1892			Cytoplasmic (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.5856G>A	CCDS8384.1																																																																																				0.667	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		14	98	0	0	0	0	14	98				
MPZL3	196264	broad.mit.edu	37	11	118111019	118111019	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:118111019C>T	ENST00000278949.4	-	2	202	c.147G>A	c.(145-147)aaG>aaA	p.K49K	MPZL3_ENST00000527472.1_Silent_p.K37K|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	49	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGCATTTCAACTTGATCTTTT	0.423																																						uc001psm.2		NA																	0					0						c.(145-147)AAG>AAA		myelin protein zero-like 3 precursor							230.0	184.0	199.0					11																	118111019		2200	4296	6496	SO:0001819	synonymous_variant	196264				cell adhesion	integral to membrane		g.chr11:118111019C>T	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.147G>A	11.37:g.118111019C>T						MPZL3_uc010rxy.1_Silent_p.K37K|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron	p.K49K	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	2	149	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	49			Ig-like V-type.		A8K025|B4DLD5|B4E2I8	Silent	SNP	ENST00000278949.4	37	c.147G>A	CCDS8392.1																																																																																				0.423	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		21	55	0	0	0	0	21	55				
MPZL2	10205	broad.mit.edu	37	11	118133656	118133656	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:118133656G>A	ENST00000278937.2	-	2	343	c.215C>T	c.(214-216)cCt>cTt	p.P72L	MPZL2_ENST00000525647.1_5'UTR|MPZL2_ENST00000438295.2_Missense_Mutation_p.P72L	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	72	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AAACTGCTCAGGTCCCCCGTC	0.438																																						uc001psn.2		NA																	0				skin(1)	1						c.(214-216)CCT>CTT		myelin protein zero-like 2 precursor							142.0	140.0	141.0					11																	118133656		2200	4296	6496	SO:0001583	missense	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118133656G>A	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.215C>T	11.37:g.118133656G>A	ENSP00000278937:p.Pro72Leu					MPZL2_uc001pso.2_Missense_Mutation_p.P72L|MPZL2_uc001psp.1_Missense_Mutation_p.P72L	p.P72L	NM_005797	NP_005788	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	356	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	72			Extracellular (Potential).|Ig-like V-type.		A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	c.215C>T	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.802078	0.31869	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	T;T	0.67865	-0.29;-0.29	5.66	3.71	0.42584	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.669254	0.16905	N	0.194758	T	0.48537	0.1505	N	0.16790	0.44	0.09310	N	1	B	0.22276	0.067	B	0.23852	0.049	T	0.38308	-0.9667	10	0.41790	T	0.15	.	8.3798	0.32463	0.0:0.1575:0.539:0.3034	.	72	O60487	MPZL2_HUMAN	L	72	ENSP00000278937:P72L;ENSP00000408362:P72L	ENSP00000278937:P72L	P	-	2	0	MPZL2	117638866	0.000000	0.05858	0.026000	0.17262	0.963000	0.63663	0.670000	0.25157	0.684000	0.31448	0.650000	0.86243	CCT		0.438	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		73	158	0	0	0	0	73	158				
KMT2A	4297	broad.mit.edu	37	11	118390382	118390382	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:118390382C>T	ENST00000389506.5	+	32	11187	c.11187C>T	c.(11185-11187)ttC>ttT	p.F3729F	RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|KMT2A_ENST00000354520.4_Silent_p.F3691F|KMT2A_ENST00000534358.1_Silent_p.F3732F|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3729	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGTTGTGTTCCTCATTGAGC	0.512																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(11185-11187)TTC>TTT		myeloid/lymphoid or mixed-lineage leukemia							217.0	191.0	200.0					11																	118390382		2200	4295	6495	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118390382C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11187C>T	11.37:g.118390382C>T						MLL_uc001ptb.2_Silent_p.F3732F	p.F3729F	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	32	11210	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3729			FYR C-terminal.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.11187C>T	CCDS31686.1																																																																																				0.512	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		64	103	0	0	0	0	64	103				
HINFP	25988	broad.mit.edu	37	11	119005131	119005131	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119005131G>A	ENST00000350777.2	+	10	1540	c.1477G>A	c.(1477-1479)Gcc>Acc	p.A493T		NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	493	Interaction with NPAT.		A -> V (in dbSNP:rs100803). {ECO:0000269|PubMed:15489334}.		DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCCTCCCCCAGCCCCTGAGCC	0.567											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pvp.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(1477-1479)GCC>ACC		MBD2 (methyl-CpG-binding protein)-interacting							43.0	48.0	46.0					11																	119005131		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119005131G>A	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1477G>A	11.37:g.119005131G>A	ENSP00000318085:p.Ala493Thr		OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	HINFP_uc001pvq.2_Missense_Mutation_p.A493T|HINFP_uc001pvr.2_Missense_Mutation_p.A246T	p.A493T	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN			11	1666	+			493			Interaction with NPAT.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.1477G>A	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293134	0.23564	.	.	ENSG00000172273	ENST00000350777	T	0.10288	2.89	4.9	0.682	0.17992	.	1.282940	0.05442	N	0.547761	T	0.09468	0.0233	L	0.29908	0.895	0.09310	N	0.999999	B	0.15141	0.012	B	0.14023	0.01	T	0.39702	-0.9601	10	0.66056	D	0.02	-0.0432	6.8251	0.23878	0.154:0.2843:0.5617:0.0	.	493	Q9BQA5	HINFP_HUMAN	T	493	ENSP00000318085:A493T	ENSP00000318085:A493T	A	+	1	0	HINFP	118510341	0.052000	0.20516	0.000000	0.03702	0.087000	0.18053	1.366000	0.34193	0.239000	0.21243	0.655000	0.94253	GCC		0.567	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		8	56	0	0	0	0	8	56				
NLRX1	79671	broad.mit.edu	37	11	119044583	119044583	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119044583C>T	ENST00000409109.1	+	5	1212	c.625C>T	c.(625-627)Cca>Tca	p.P209S	NLRX1_ENST00000525863.1_Missense_Mutation_p.P209S|NLRX1_ENST00000409991.1_Missense_Mutation_p.P209S|NLRX1_ENST00000292199.2_Missense_Mutation_p.P209S|NLRX1_ENST00000409265.4_Missense_Mutation_p.P209S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	209	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGCCCTGCCCCAGCCTCCCT	0.642																																						uc001pvu.2		NA																	0				ovary(1)|skin(1)	2						c.(625-627)CCA>TCA		NLR family member X1 isoform 1							56.0	50.0	52.0					11																	119044583		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119044583C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.625C>T	11.37:g.119044583C>T	ENSP00000387334:p.Pro209Ser					NLRX1_uc010rzc.1_Missense_Mutation_p.P31S|NLRX1_uc001pvv.2_Missense_Mutation_p.P209S|NLRX1_uc001pvw.2_Missense_Mutation_p.P209S|NLRX1_uc001pvx.2_Missense_Mutation_p.P209S	p.P209S	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	5	840	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	209			Required for interaction with MAVS.|NACHT.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.625C>T	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695848	0.30052	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.70399	-0.38;-0.38;-0.48;-0.38;-0.48	5.93	5.02	0.67125	NACHT nucleoside triphosphatase (1);	0.265000	0.33712	N	0.004621	T	0.51753	0.1693	N	0.15975	0.35	0.42674	D	0.993526	P;P	0.47545	0.897;0.79	B;B	0.41440	0.357;0.354	T	0.49872	-0.8893	10	0.17832	T	0.49	.	12.5082	0.55993	0.0:0.9229:0.0:0.0771	.	209;209	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	S	209	ENSP00000386851:P209S;ENSP00000292199:P209S;ENSP00000386858:P209S;ENSP00000387334:P209S;ENSP00000433442:P209S	ENSP00000292199:P209S	P	+	1	0	NLRX1	118549793	0.989000	0.36119	0.717000	0.30585	0.352000	0.29268	4.330000	0.59266	2.815000	0.96918	0.561000	0.74099	CCA		0.642	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		17	28	0	0	0	0	17	28				
NLRX1	79671	broad.mit.edu	37	11	119052950	119052950	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119052950C>T	ENST00000409109.1	+	9	3089	c.2502C>T	c.(2500-2502)aaC>aaT	p.N834N	NLRX1_ENST00000525863.1_Silent_p.N834N|NLRX1_ENST00000409991.1_Silent_p.N834N|NLRX1_ENST00000292199.2_Silent_p.N834N|NLRX1_ENST00000409265.4_Silent_p.N834N	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	834	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGACCGCAACCGGCAGCTGC	0.682																																						uc001pvu.2		NA																	0				ovary(1)|skin(1)	2						c.(2500-2502)AAC>AAT		NLR family member X1 isoform 1							56.0	58.0	58.0					11																	119052950		2200	4292	6492	SO:0001819	synonymous_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119052950C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2502C>T	11.37:g.119052950C>T						NLRX1_uc001pvv.2_Silent_p.N834N|NLRX1_uc001pvw.2_Silent_p.N834N|NLRX1_uc001pvx.2_Silent_p.N834N	p.N834N	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	9	2717	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	834			LRR 5.|Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	c.2502C>T	CCDS8416.1																																																																																				0.682	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		15	67	0	0	0	0	15	67				
MCAM	4162	broad.mit.edu	37	11	119183335	119183335	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119183335C>T	ENST00000264036.4	-	7	777	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	MCAM_ENST00000392814.1_Missense_Mutation_p.E204K|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	255	Ig-like C2-type 1.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E255K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGCTCCACTTCCAGCCACACT	0.577																																						uc001pwf.2		NA																	1	Substitution - Missense(1)	p.E255K(1)	ovary(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(763-765)GAA>AAA		melanoma cell adhesion molecule							93.0	95.0	95.0					11																	119183335		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119183335C>T	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.763G>A	11.37:g.119183335C>T	ENSP00000264036:p.Glu255Lys					MCAM_uc001pwg.1_5'Flank	p.E255K	NM_006500	NP_006491	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	7	792	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	255			Ig-like C2-type 1.|Extracellular (Potential).		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.763G>A	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084183	0.55861	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.13307	2.6;2.6	4.87	4.87	0.63330	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11495	0.0280	L	0.45051	1.395	0.37426	D	0.913828	B	0.28998	0.23	B	0.27715	0.082	T	0.10086	-1.0645	9	0.12103	T	0.63	-18.7266	11.7806	0.52013	0.0:0.808:0.192:0.0	.	255	P43121	MUC18_HUMAN	K	255;204	ENSP00000264036:E255K;ENSP00000376561:E204K	ENSP00000264036:E255K	E	-	1	0	MCAM	118688545	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	2.229000	0.42990	2.681000	0.91329	0.561000	0.74099	GAA		0.577	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			23	144	0	0	0	0	23	144				
ARHGEF12	23365	broad.mit.edu	37	11	120347993	120347993	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:120347993T>A	ENST00000397843.2	+	35	3597	c.3431T>A	c.(3430-3432)tTa>tAa	p.L1144*	ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.L1041*|ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.L1125*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1144					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCAATTCCATTACCACAGTCA	0.398			T	MLL	AML																																	uc001pxl.1		NA		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(3430-3432)TTA>TAA		Rho guanine nucleotide exchange factor (GEF) 12							93.0	89.0	90.0					11																	120347993		1953	4138	6091	SO:0001587	stop_gained	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120347993T>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3431T>A	11.37:g.120347993T>A	ENSP00000380942:p.Leu1144*					ARHGEF12_uc009zat.2_Nonsense_Mutation_p.L1125*|ARHGEF12_uc010rzn.1_Nonsense_Mutation_p.L1041*|ARHGEF12_uc009zau.1_Nonsense_Mutation_p.L1041*	p.L1144*	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	35	3438	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1144					O15086|Q6P526	Nonsense_Mutation	SNP	ENST00000397843.2	37	c.3431T>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	T	44	11.117601	0.99518	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	5.13	2.81	0.32909	.	0.000000	0.35207	N	0.003376	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-0.0071	9.7288	0.40348	0.0:0.1288:0.0:0.8712	.	.	.	.	X	1144;1125;1041	.	ENSP00000349056:L1125X	L	+	2	0	ARHGEF12	119853203	0.948000	0.32251	0.000000	0.03702	0.980000	0.70556	4.111000	0.57838	0.369000	0.24510	0.459000	0.35465	TTA		0.398	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		20	29	0	0	0	0	20	29				
TECTA	7007	broad.mit.edu	37	11	121008716	121008716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:121008716C>A	ENST00000392793.1	+	11	3799	c.3528C>A	c.(3526-3528)taC>taA	p.Y1176*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.Y1176*			O75443	TECTA_HUMAN	tectorin alpha	1176	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCGAGCTTACAAGCACACTG	0.577																																						uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(3526-3528)TAC>TAA		tectorin alpha precursor							50.0	41.0	44.0					11																	121008716		2202	4295	6497	SO:0001587	stop_gained	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121008716C>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3528C>A	11.37:g.121008716C>A	ENSP00000376543:p.Tyr1176*						p.Y1176*	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	3528	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1176			VWFD 3.			Nonsense_Mutation	SNP	ENST00000392793.1	37	c.3528C>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	41	8.801995	0.98960	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	.	.	.	4.63	1.71	0.24356	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6661	0.28432	0.0:0.6703:0.0:0.3297	.	.	.	.	X	1176	.	ENSP00000264037:Y1176X	Y	+	3	2	TECTA	120513926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.921000	0.28718	0.494000	0.27859	0.655000	0.94253	TAC		0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		7	29	1	0	8.13e-05	8.25e-05	7	29				
TMEM225	338661	broad.mit.edu	37	11	123755988	123755988	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123755988G>T	ENST00000375026.2	-	1	361	c.145C>A	c.(145-147)Cct>Act	p.P49T		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	49					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATCATCCAAGGACTGTGGTTC	0.463																																						uc001pzi.2		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						c.(145-147)CCT>ACT		transmembrane protein 225							159.0	139.0	146.0					11																	123755988		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123755988G>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.145C>A	11.37:g.123755988G>T	ENSP00000364166:p.Pro49Thr						p.P49T	NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN			1	353	-			49						Missense_Mutation	SNP	ENST00000375026.2	37	c.145C>A	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500539	0.44455	.	.	ENSG00000204300	ENST00000375026	T	0.68479	-0.33	4.87	4.87	0.63330	.	0.000000	0.48767	D	0.000171	T	0.73024	0.3534	L	0.32530	0.975	0.36318	D	0.858064	D	0.89917	1.0	D	0.83275	0.996	T	0.79006	-0.1979	10	0.87932	D	0	-7.8708	13.6897	0.62537	0.0:0.0:1.0:0.0	.	49	Q6GV28	TM225_HUMAN	T	49	ENSP00000364166:P49T	ENSP00000364166:P49T	P	-	1	0	TMEM225	123261198	1.000000	0.71417	0.982000	0.44146	0.163000	0.22366	3.697000	0.54764	2.686000	0.91538	0.655000	0.94253	CCT		0.463	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		31	73	1	0	9.18e-22	9.53e-22	31	73				
OR10G4	390264	broad.mit.edu	37	11	123887148	123887148	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123887148G>A	ENST00000320891.4	+	1	867	c.867G>A	c.(865-867)ctG>ctA	p.L289L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTACACCCTGAGAAACAAGG	0.438																																						uc010sac.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(865-867)CTG>CTA		olfactory receptor, family 10, subfamily G,							83.0	78.0	79.0					11																	123887148		2201	4299	6500	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123887148G>A	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.867G>A	11.37:g.123887148G>A							p.L289L	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	867	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	289			Helical; Name=7; (Potential).		Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.867G>A	CCDS31702.1																																																																																				0.438	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		11	93	0	0	0	0	11	93				
OR10G9	219870	broad.mit.edu	37	11	123894355	123894355	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123894355G>A	ENST00000375024.1	+	1	636	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	212						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTTTCTCCTGATAGTGCTGT	0.567																																						uc010sad.1		NA																	0				skin(2)	2						c.(634-636)CTG>CTA		olfactory receptor, family 10, subfamily G,							233.0	200.0	211.0					11																	123894355		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894355G>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.636G>A	11.37:g.123894355G>A							p.L212L	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	636	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	212			Helical; Name=5; (Potential).			Silent	SNP	ENST00000375024.1	37	c.636G>A	CCDS31703.1																																																																																				0.567	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		45	94	0	0	0	0	45	94				
OR10G8	219869	broad.mit.edu	37	11	123900446	123900446	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123900446G>A	ENST00000431524.1	+	1	150	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	39						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGTGCTGGGGAACCTCCTCA	0.562																																						uc001pzp.1		NA																	0				ovary(1)|skin(1)	2						c.(115-117)GGG>GGA		olfactory receptor, family 10, subfamily G,							214.0	182.0	193.0					11																	123900446		2201	4297	6498	SO:0001819	synonymous_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900446G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.117G>A	11.37:g.123900446G>A							p.G39G	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	117	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	39			Helical; Name=1; (Potential).		B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	c.117G>A	CCDS31704.1																																																																																				0.562	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		49	111	0	0	0	0	49	111				
OR10G8	219869	broad.mit.edu	37	11	123901244	123901244	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123901244A>T	ENST00000431524.1	+	1	948	c.915A>T	c.(913-915)gtA>gtT	p.V305V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	305						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGACAAAGTAGCACATTCTC	0.443																																						uc001pzp.1		NA																	0				ovary(1)|skin(1)	2						c.(913-915)GTA>GTT		olfactory receptor, family 10, subfamily G,							78.0	72.0	74.0					11																	123901244		2201	4299	6500	SO:0001819	synonymous_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901244A>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.915A>T	11.37:g.123901244A>T							p.V305V	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	915	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	305			Cytoplasmic (Potential).		B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	c.915A>T	CCDS31704.1																																																																																				0.443	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		10	63	0	0	0	0	10	63				
OR8D1	283159	broad.mit.edu	37	11	124180597	124180597	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:124180597C>A	ENST00000357821.2	-	1	136	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCAGCTGGAGCTCTGCTTGCT	0.453																																						uc010sag.1		NA																	0				ovary(2)|skin(1)	3						c.(64-66)GAG>GAT		olfactory receptor, family 8, subfamily D,							87.0	90.0	89.0					11																	124180597		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180597C>A	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.66G>T	11.37:g.124180597C>A	ENSP00000350474:p.Glu22Asp						p.E22D	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	66	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	22			Extracellular (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.66G>T	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	c	9.366	1.069335	0.20147	.	.	ENSG00000196341	ENST00000357821	T	0.00433	7.43	4.09	-0.203	0.13204	.	0.000000	0.37261	U	0.002175	T	0.00271	0.0008	L	0.48877	1.53	0.21256	N	0.999741	B	0.20368	0.044	B	0.21151	0.033	T	0.43294	-0.9400	10	0.29301	T	0.29	.	5.1281	0.14896	0.0:0.588:0.1496:0.2625	.	22	Q8WZ84	OR8D1_HUMAN	D	22	ENSP00000350474:E22D	ENSP00000350474:E22D	E	-	3	2	OR8D1	123685807	0.129000	0.22400	0.970000	0.41538	0.012000	0.07955	-0.266000	0.08631	-0.107000	0.12088	-0.199000	0.12753	GAG		0.453	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		22	137	1	0	1.66e-10	1.71e-10	22	137				
PANX3	116337	broad.mit.edu	37	11	124487183	124487183	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:124487183C>T	ENST00000284288.2	+	3	405	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	113					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTCCCCTACTCCCTGCTGGCC	0.647																																						uc001qah.2		NA																	0					0						c.(337-339)TCC>TTC		pannexin 3							38.0	32.0	34.0					11																	124487183		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124487183C>T	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.338C>T	11.37:g.124487183C>T	ENSP00000284288:p.Ser113Phe						p.S113F	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	3	338	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	113			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000284288.2	37	c.338C>T	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381493	0.82792	.	.	ENSG00000154143	ENST00000284288	T	0.28255	1.62	4.77	4.77	0.60923	.	0.052491	0.85682	D	0.000000	T	0.48960	0.1529	L	0.46157	1.445	0.54753	D	0.999986	D	0.69078	0.997	D	0.70487	0.969	T	0.44742	-0.9308	10	0.44086	T	0.13	-22.2795	17.7734	0.88500	0.0:1.0:0.0:0.0	.	113	Q96QZ0	PANX3_HUMAN	F	113	ENSP00000284288:S113F	ENSP00000284288:S113F	S	+	2	0	PANX3	123992393	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.671000	0.68095	2.192000	0.70111	0.455000	0.32223	TCC		0.647	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			5	29	0	0	0	0	5	29				
CCDC15	80071	broad.mit.edu	37	11	124829770	124829770	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:124829770G>A	ENST00000344762.5	+	4	646	c.387G>A	c.(385-387)agG>agA	p.R129R	CCDC15_ENST00000529051.1_Silent_p.R129R	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	129						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CTTCCAAAAGGACAAGTGTTT	0.428																																						uc001qbm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(385-387)AGG>AGA		coiled-coil domain containing 15							64.0	67.0	66.0					11																	124829770		1880	4103	5983	SO:0001819	synonymous_variant	80071					centrosome		g.chr11:124829770G>A	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.387G>A	11.37:g.124829770G>A							p.R129R	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	4	646	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	129					Q9H8U7	Silent	SNP	ENST00000344762.5	37	c.387G>A	CCDS44756.1																																																																																				0.428	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		5	21	0	0	0	0	5	21				
PKNOX2	63876	broad.mit.edu	37	11	125267805	125267805	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:125267805G>T	ENST00000298282.9	+	7	706	c.435G>T	c.(433-435)ctG>ctT	p.L145L	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.L81L	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	145					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GAATCCACCTGCTGGAGCTGG	0.532																																						uc001qbu.2		NA																	0				ovary(3)	3						c.(433-435)CTG>CTT		PBX/knotted 1 homeobox 2							107.0	113.0	111.0					11																	125267805		1978	4181	6159	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125267805G>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.435G>T	11.37:g.125267805G>T						PKNOX2_uc010saz.1_Silent_p.L116L|PKNOX2_uc010sba.1_Silent_p.L116L|PKNOX2_uc010sbb.1_Silent_p.L81L	p.L145L	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	7	749	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	145					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.435G>T	CCDS41730.1																																																																																				0.532	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			8	74	1	0	0.000157383	0.00015945	8	74				
HYLS1	219844	broad.mit.edu	37	11	125769334	125769334	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:125769334C>T	ENST00000425380.2	+	3	852	c.71C>T	c.(70-72)gCt>gTt	p.A24V	HYLS1_ENST00000356438.3_Missense_Mutation_p.A24V|HYLS1_ENST00000526028.1_Missense_Mutation_p.A24V|PUS3_ENST00000227474.3_Intron	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	24						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		TTGGCAGCTGCTACAGCTTTT	0.473																																					Esophageal Squamous(172;2590 2636 8884 10471)	uc009zbv.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(70-72)GCT>GTT		hydrolethalus syndrome 1							86.0	81.0	83.0					11																	125769334		2201	4299	6500	SO:0001583	missense	219844					centrosome|nucleus		g.chr11:125769334C>T	AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.71C>T	11.37:g.125769334C>T	ENSP00000414884:p.Ala24Val					HYLS1_uc001qcx.3_Missense_Mutation_p.A24V|PUS3_uc001qcy.2_Intron	p.A24V	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	4	605	+	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	24					B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	c.71C>T	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484095	0.84854	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.72394	-0.65;-0.65;-0.65	6.17	5.21	0.72293	.	0.329543	0.23777	N	0.044674	T	0.67739	0.2925	L	0.51422	1.61	0.80722	D	1	P	0.39326	0.668	B	0.40199	0.322	T	0.71712	-0.4510	10	0.87932	D	0	.	14.3251	0.66515	0.0:0.8517:0.1483:0.0	.	24	Q96M11	HYLS1_HUMAN	V	24	ENSP00000348815:A24V;ENSP00000414884:A24V;ENSP00000436833:A24V	ENSP00000348815:A24V	A	+	2	0	HYLS1	125274544	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.983000	0.40648	2.941000	0.99782	0.655000	0.94253	GCT		0.473	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		8	87	0	0	0	0	8	87				
ETS1	2113	broad.mit.edu	37	11	128426323	128426323	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:128426323C>T	ENST00000392668.4	-	3	161	c.77G>A	c.(76-78)gGa>gAa	p.G26E	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	0					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GTTGCTAGGTCCTTGCCTCTG	0.393																																						uc001qej.2		NA																	0				lung(4)|central_nervous_system(1)|pleura(1)	6						c.(76-78)GGA>GAA		v-ets erythroblastosis virus E26 oncogene							99.0	86.0	90.0					11																	128426323		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426323C>T		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.77G>A	11.37:g.128426323C>T	ENSP00000376436:p.Gly26Glu						p.G26E	NM_001143820	NP_001137292	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	162	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	Error:Variant_position_missing_in_P14921_after_alignment					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.77G>A	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747049	0.49257	.	.	ENSG00000134954	ENST00000392668	T	0.20200	2.09	5.89	4.95	0.65309	.	.	.	.	.	T	0.18964	0.0455	.	.	.	0.80722	D	1	P	0.34780	0.468	B	0.31390	0.129	T	0.02431	-1.1160	8	0.49607	T	0.09	.	15.1069	0.72329	0.0:0.8595:0.1405:0.0	.	26	Q6N087	.	E	26	ENSP00000376436:G26E	ENSP00000376436:G26E	G	-	2	0	ETS1	127931533	0.794000	0.28838	0.975000	0.42487	0.834000	0.47266	1.367000	0.34204	2.797000	0.96272	0.563000	0.77884	GGA		0.393	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238		5	22	0	0	0	0	5	22				
FLI1	2313	broad.mit.edu	37	11	128628073	128628073	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:128628073C>T	ENST00000527786.2	+	2	571	c.82C>T	c.(82-84)Cat>Tat	p.H28Y	FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000344954.6_5'UTR|FLI1_ENST00000534087.2_5'UTR	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	28					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGCGGCAGCCCATCTCCCCAA	0.622			T	EWSR1	Ewing sarcoma																																	uc010sbu.1		NA		Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2266)	0				bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273						c.(82-84)CAT>TAT		Friend leukemia virus integration 1							33.0	41.0	38.0					11																	128628073		2146	4253	6399	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128628073C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.82C>T	11.37:g.128628073C>T	ENSP00000433488:p.His28Tyr					FLI1_uc010sbt.1_5'UTR|FLI1_uc010sbv.1_5'UTR|FLI1_uc009zci.2_5'UTR|FLI1_uc001qen.2_5'UTR	p.H28Y	NM_002017	NP_002008	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	2	423	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	28					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.82C>T	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665038	0.67700	.	.	ENSG00000151702	ENST00000429175	T	0.15256	2.44	5.41	5.41	0.78517	.	0.160228	0.56097	D	0.000025	T	0.18759	0.0450	L	0.39898	1.24	0.80722	D	1	P	0.37176	0.586	B	0.37387	0.248	T	0.01692	-1.1294	10	0.33940	T	0.23	.	19.1886	0.93654	0.0:1.0:0.0:0.0	.	28	Q01543	FLI1_HUMAN	Y	28	ENSP00000399985:H28Y	ENSP00000399985:H28Y	H	+	1	0	FLI1	128133283	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.378000	0.79679	2.520000	0.84964	0.561000	0.74099	CAT		0.622	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	12	0	0	0	0	3	12				
FLI1	2313	broad.mit.edu	37	11	128638162	128638162	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:128638162C>T	ENST00000527786.2	+	3	869	c.380C>T	c.(379-381)cCc>cTc	p.P127L	FLI1_ENST00000281428.8_Missense_Mutation_p.P61L|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000344954.6_Missense_Mutation_p.P94L|FLI1_ENST00000534087.2_Missense_Mutation_p.P94L	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	127	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GTCATCGTCCCCGCAGGTAAT	0.557			T	EWSR1	Ewing sarcoma																																	uc010sbu.1		NA		Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2266)	0				bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273						c.(379-381)CCC>CTC		Friend leukemia virus integration 1							86.0	88.0	87.0					11																	128638162		2029	4166	6195	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128638162C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.380C>T	11.37:g.128638162C>T	ENSP00000433488:p.Pro127Leu					FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Missense_Mutation_p.P94L|FLI1_uc009zci.2_Missense_Mutation_p.P61L|FLI1_uc001qen.2_Missense_Mutation_p.P94L	p.P127L	NM_002017	NP_002008	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	3	721	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	127			PNT.		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.380C>T	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242109	0.95272	.	.	ENSG00000151702	ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.28	5.28	0.74379	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.76526	-0.2927	10	0.87932	D	0	.	18.9307	0.92564	0.0:1.0:0.0:0.0	.	127;61;94	Q01543;Q01543-2;B4DTC6	FLI1_HUMAN;.;.	L	94;127;94;61	ENSP00000339627:P94L;ENSP00000399985:P127L;ENSP00000432950:P94L;ENSP00000281428:P61L	ENSP00000281428:P61L	P	+	2	0	FLI1	128143372	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	7.818000	0.86416	2.469000	0.83416	0.655000	0.94253	CCC		0.557	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		6	28	0	0	0	0	6	28				
PRDM10	56980	broad.mit.edu	37	11	129802048	129802048	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:129802048G>A	ENST00000360871.3	-	10	1467	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	PRDM10_ENST00000528746.1_Silent_p.I386I|PRDM10_ENST00000304538.6_Silent_p.I326I|PRDM10_ENST00000423662.2_Silent_p.I326I|PRDM10_ENST00000526082.1_Silent_p.I326I|PRDM10_ENST00000358825.5_Silent_p.I412I	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTCCAGGCGGATAAATTTTG	0.577																																						uc001qfm.2		NA																	0				pancreas(1)	1						c.(1234-1236)ATC>ATT		PR domain containing 10 isoform 1							132.0	113.0	119.0					11																	129802048		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129802048G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1236C>T	11.37:g.129802048G>A						PRDM10_uc001qfj.2_Silent_p.I326I|PRDM10_uc001qfk.2_Silent_p.I326I|PRDM10_uc001qfl.2_Silent_p.I326I|PRDM10_uc010sbx.1_Silent_p.I326I|PRDM10_uc001qfn.2_Silent_p.I412I|PRDM10_uc009zct.1_Silent_p.I444I	p.I412I	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	10	1468	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	412					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.1236C>T	CCDS8484.1																																																																																				0.577	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		18	71	0	0	0	0	18	71				
NTM	50863	broad.mit.edu	37	11	132016247	132016247	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:132016247A>T	ENST00000374786.1	+	2	718	c.239A>T	c.(238-240)gAc>gTc	p.D80V	NTM_ENST00000374791.3_Missense_Mutation_p.D80V|NTM_ENST00000539799.1_Missense_Mutation_p.D80V|NTM_ENST00000425719.2_Missense_Mutation_p.D80V|NTM_ENST00000427481.2_Missense_Mutation_p.D71V|NTM_ENST00000374784.1_Missense_Mutation_p.D80V	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	80	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GCTGGGAATGACAAGTGGTGC	0.562																																						uc001qgp.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(238-240)GAC>GTC		neurotrimin isoform 1							181.0	134.0	150.0					11																	132016247		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016247A>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.239A>T	11.37:g.132016247A>T	ENSP00000363918:p.Asp80Val					NTM_uc001qgm.2_Missense_Mutation_p.D80V|NTM_uc010sch.1_Missense_Mutation_p.D71V|NTM_uc010sci.1_Missense_Mutation_p.D80V|NTM_uc010scj.1_Missense_Mutation_p.D39V|NTM_uc001qgo.2_Missense_Mutation_p.D80V|NTM_uc001qgq.2_Missense_Mutation_p.D80V	p.D80V	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			2	903	+			80			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.239A>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.680579	0.88542	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.095408	0.64402	D	0.000001	T	0.51346	0.1669	L	0.56396	1.775	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.97;0.999;0.998;0.994	D;D;D;D;D;D	0.81914	0.995;0.995;0.972;0.995;0.987;0.991	T	0.42783	-0.9431	10	0.32370	T	0.25	-32.9243	15.9527	0.79855	1.0:0.0:0.0:0.0	.	80;71;80;80;80;80	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	V	80;80;71;71;80;80;80	ENSP00000363923:D80V;ENSP00000437668:D80V;ENSP00000448104:D71V;ENSP00000416320:D71V;ENSP00000363918:D80V;ENSP00000396722:D80V;ENSP00000363916:D80V	ENSP00000363916:D80V	D	+	2	0	NTM	131521457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.323000	0.96364	2.173000	0.68751	0.533000	0.62120	GAC		0.562	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		7	76	0	0	0	0	7	76				
OPCML	4978	broad.mit.edu	37	11	132306111	132306111	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:132306111C>T	ENST00000331898.7	-	6	1384	c.806G>A	c.(805-807)gGa>gAa	p.G269E	OPCML_ENST00000524381.1_Missense_Mutation_p.G262E|OPCML_ENST00000541867.1_Missense_Mutation_p.G269E|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.G228E	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	269	Ig-like C2-type 3.				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)		AATCCTCATTCCATCCAGACC	0.438																																						uc001qgs.2		NA																	0				ovary(2)|skin(1)	3						c.(805-807)GGA>GAA		opioid binding protein/cell adhesion							149.0	138.0	141.0					11																	132306111		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132306111C>T	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.806G>A	11.37:g.132306111C>T	ENSP00000330862:p.Gly269Glu					OPCML_uc001qgu.2_Missense_Mutation_p.G262E|OPCML_uc010sck.1_Missense_Mutation_p.G269E|OPCML_uc001qgt.2_Missense_Mutation_p.G268E|OPCML_uc010scl.1_Missense_Mutation_p.G228E	p.G269E	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	6	856	-	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)	269			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.806G>A	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183758	0.78677	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80507	0.4636	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.996;0.996	D;D;D;D	0.76071	0.978;0.987;0.969;0.969	T	0.81210	-0.1036	10	0.87932	D	0	-19.6652	19.8961	0.96958	0.0:1.0:0.0:0.0	.	269;262;268;269	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	E	269;262;228;236;269	ENSP00000330862:G269E;ENSP00000434750:G262E;ENSP00000363910:G228E;ENSP00000445496:G269E	ENSP00000330862:G269E	G	-	2	0	OPCML	131811321	1.000000	0.71417	0.914000	0.36105	0.500000	0.33767	7.480000	0.81109	2.803000	0.96430	0.650000	0.86243	GGA		0.438	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		10	70	0	0	0	0	10	70				
GLB1L2	89944	broad.mit.edu	37	11	134244922	134244922	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:134244922C>T	ENST00000535456.2	+	19	2069	c.1881C>T	c.(1879-1881)ccC>ccT	p.P627P	GLB1L2_ENST00000339772.7_Silent_p.P627P|GLB1L2_ENST00000389881.3_Silent_p.P627P|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	627					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGGAAACCCCCCACCTGGGCA	0.627																																						uc001qhp.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1879-1881)CCC>CCT		galactosidase, beta 1-like 2 precursor							57.0	49.0	52.0					11																	134244922		2201	4297	6498	SO:0001819	synonymous_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134244922C>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1881C>T	11.37:g.134244922C>T						GLB1L2_uc009zdg.1_RNA	p.P627P	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	19	2069	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	627					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	37	c.1881C>T	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	C	9.746	1.166160	0.21621	.	.	ENSG00000149328	ENST00000525089	D	0.94184	-3.37	5.32	1.21	0.21127	.	0.118006	0.64402	D	0.000018	D	0.91188	0.7224	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87554	0.2467	7	0.52906	T	0.07	-26.9802	1.797	0.03063	0.1478:0.45:0.145:0.2571	.	.	.	.	S	566	ENSP00000432527:P566S	ENSP00000432527:P566S	P	+	1	0	GLB1L2	133750132	0.000000	0.05858	0.997000	0.53966	0.854000	0.48673	-0.609000	0.05635	1.232000	0.43678	0.591000	0.81541	CCA		0.627	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		7	16	0	0	0	0	7	16				
CACNA2D4	93589	broad.mit.edu	37	12	2016673	2016673	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:2016673G>A	ENST00000382722.5	-	6	1076	c.714C>T	c.(712-714)ttC>ttT	p.F238F	CACNA2D4_ENST00000585708.1_Silent_p.F174F|CACNA2D4_ENST00000586184.1_Silent_p.F238F|CACNA2D4_ENST00000587995.1_Silent_p.F238F|CACNA2D4_ENST00000585732.1_Silent_p.F238F|CACNA2D4_ENST00000588077.1_Silent_p.F174F	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	238					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGTCTCTCTGGAAGTTCTCCA	0.453																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NA																	0				ovary(1)	1						c.(712-714)TTC>TTT		voltage-gated calcium channel alpha(2)delta-4							80.0	76.0	77.0					12																	2016673		1958	4150	6108	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2016673G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.714C>T	12.37:g.2016673G>A						CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.F238F	p.F238F	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	6	945	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	238			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.714C>T	CCDS44785.1																																																																																				0.453	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			4	23	0	0	0	0	4	23				
CACNA1C	775	broad.mit.edu	37	12	2566793	2566793	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:2566793G>A	ENST00000347598.4	+	5	678	c.678G>A	c.(676-678)ggG>ggA	p.G226G	CACNA1C_ENST00000399649.1_Silent_p.G226G|CACNA1C_ENST00000399603.1_Silent_p.G226G|CACNA1C_ENST00000344100.3_Silent_p.G226G|CACNA1C_ENST00000480911.1_Silent_p.G226G|CACNA1C_ENST00000399617.1_Silent_p.G226G|CACNA1C_ENST00000406454.3_Silent_p.G226G|CACNA1C_ENST00000399595.1_Silent_p.G226G|CACNA1C_ENST00000399634.1_Silent_p.G226G|CACNA1C_ENST00000327702.7_Silent_p.G226G|CACNA1C_ENST00000399637.1_Silent_p.G226G|CACNA1C_ENST00000399601.1_Silent_p.G226G|CACNA1C_ENST00000399644.1_Silent_p.G226G|CACNA1C_ENST00000399621.1_Silent_p.G226G|CACNA1C_ENST00000399638.1_Silent_p.G226G|CACNA1C_ENST00000399597.1_Silent_p.G226G|CACNA1C_ENST00000402845.3_Silent_p.G226G|CACNA1C_ENST00000399655.1_Silent_p.G226G|CACNA1C_ENST00000399591.1_Silent_p.G226G|CACNA1C_ENST00000399629.1_Silent_p.G226G|CACNA1C_ENST00000399641.1_Silent_p.G226G|CACNA1C_ENST00000399606.1_Silent_p.G226G|CACNA1C_ENST00000335762.5_Silent_p.G226G	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	226					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTCGGAGGGAAAGGGGCCG	0.557																																						uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(676-678)GGG>GGA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						127.0	142.0	137.0					12																	2566793		2057	4194	6251	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2566793G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.678G>A	12.37:g.2566793G>A						CACNA1C_uc009zdv.1_Silent_p.G226G|CACNA1C_uc001qkb.2_Silent_p.G226G|CACNA1C_uc001qkc.2_Silent_p.G226G|CACNA1C_uc001qke.2_Silent_p.G226G|CACNA1C_uc001qkf.2_Silent_p.G226G|CACNA1C_uc001qjz.2_Silent_p.G226G|CACNA1C_uc001qkd.2_Silent_p.G226G|CACNA1C_uc001qkg.2_Silent_p.G226G|CACNA1C_uc009zdw.1_Silent_p.G226G|CACNA1C_uc001qkh.2_Silent_p.G226G|CACNA1C_uc001qkl.2_Silent_p.G226G|CACNA1C_uc001qkn.2_Silent_p.G226G|CACNA1C_uc001qko.2_Silent_p.G226G|CACNA1C_uc001qkp.2_Silent_p.G226G|CACNA1C_uc001qkr.2_Silent_p.G226G|CACNA1C_uc001qku.2_Silent_p.G226G|CACNA1C_uc001qkq.2_Silent_p.G226G|CACNA1C_uc001qks.2_Silent_p.G226G|CACNA1C_uc001qkt.2_Silent_p.G226G|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	p.G226G	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	5	991	+			226			Extracellular (Potential).|I.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.678G>A	CCDS44788.1																																																																																				0.557	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		39	120	0	0	0	0	39	120				
VWF	7450	broad.mit.edu	37	12	6122811	6122811	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6122811C>T	ENST00000261405.5	-	32	5710	c.5456G>A	c.(5455-5457)aGa>aAa	p.R1819K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1819	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACTGTCACTCCTAGAGTTAG	0.507																																						uc001qnn.1		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(5455-5457)AGA>AAA		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						78.0	73.0	75.0					12																	6122811		2203	4300	6503	SO:0001630	splice_region_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6122811C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5456-1G>A	12.37:g.6122811C>T						VWF_uc010set.1_Intron	p.R1819K	NM_000552	NP_000543	P04275	VWF_HUMAN			32	5706	-			1819			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5456G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	17.79	3.475532	0.63737	.	.	ENSG00000110799	ENST00000261405	T	0.76316	-1.01	5.21	5.21	0.72293	von Willebrand factor, type A (3);	0.000000	0.36374	N	0.002627	D	0.83519	0.5272	L	0.46885	1.475	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.79215	-0.1895	10	0.17832	T	0.49	.	17.3592	0.87345	0.0:1.0:0.0:0.0	.	1819	P04275	VWF_HUMAN	K	1819	ENSP00000261405:R1819K	ENSP00000261405:R1819K	R	-	2	0	VWF	5993072	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.515000	0.53429	2.432000	0.82394	0.650000	0.86243	AGA		0.507	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Missense_Mutation	17	47	0	0	0	0	17	47				
CD4	920	broad.mit.edu	37	12	6909313	6909313	+	Silent	SNP	G	G	A	rs377361025		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6909313G>A	ENST00000011653.4	+	2	267	c.9G>A	c.(7-9)cgG>cgA	p.R3R	CD4_ENST00000541982.1_Silent_p.R3R|CD4_ENST00000538827.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	3					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CAATGAACCGGGGAGTCCCTT	0.572																																						uc001qqv.1		NA																	0					0						c.(7-9)CGG>CGA		CD4 antigen precursor		G	,,,,	2,4404	4.2+/-10.8	0,2,2201	75.0	72.0	73.0		9,,,,	-2.0	0.0	12		73	0,8600		0,0,4300	no	coding-synonymous,intron,intron,intron,intron	CD4	NM_000616.4,NM_001195014.2,NM_001195015.2,NM_001195016.2,NM_001195017.2	,,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,,	3/459,,,,	6909313	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6909313G>A	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.9G>A	12.37:g.6909313G>A						CD4_uc009zez.1_Silent_p.R3R|CD4_uc009zfa.1_Intron|CD4_uc009zfb.1_Intron|CD4_uc010sfj.1_Intron|CD4_uc009zfc.1_Intron|CD4_uc010sfk.1_Intron|CD4_uc010sfl.1_Intron	p.R3R	NM_000616	NP_000607	P01730	CD4_HUMAN			2	254	+		Myeloproliferative disorder(1001;0.0122)	3					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	ENST00000011653.4	37	c.9G>A	CCDS8562.1																																																																																				0.572	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		28	33	0	0	0	0	28	33				
USP5	8078	broad.mit.edu	37	12	6965611	6965611	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6965611C>T	ENST00000229268.8	+	5	633	c.581C>T	c.(580-582)cCc>cTc	p.P194L	USP5_ENST00000389231.5_Missense_Mutation_p.P194L	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	194					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CGAATCCCTCCCTGGTGAGGC	0.627																																						uc001qri.3		NA																	0				lung(2)|breast(1)|skin(1)	4						c.(580-582)CCC>CTC		ubiquitin specific peptidase 5 isoform 1							70.0	66.0	67.0					12																	6965611		2203	4300	6503	SO:0001583	missense	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6965611C>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.581C>T	12.37:g.6965611C>T	ENSP00000229268:p.Pro194Leu					USP5_uc001qrh.3_Missense_Mutation_p.P194L	p.P194L	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			5	640	+			194					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.581C>T	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777652	0.90195	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.30448	1.53;1.53	4.67	4.67	0.58626	Zinc finger, RING/FYVE/PHD-type (1);	0.050625	0.85682	D	0.000000	T	0.59390	0.2190	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.77557	0.99;0.857	T	0.63079	-0.6717	10	0.44086	T	0.13	.	17.7769	0.88511	0.0:1.0:0.0:0.0	.	194;194	P45974;P45974-2	UBP5_HUMAN;.	L	194	ENSP00000229268:P194L;ENSP00000373883:P194L	ENSP00000229268:P194L	P	+	2	0	USP5	6835872	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.120000	0.77153	2.423000	0.82170	0.453000	0.30009	CCC		0.627	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			11	66	0	0	0	0	11	66				
USP5	8078	broad.mit.edu	37	12	6973918	6973918	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6973918C>T	ENST00000229268.8	+	18	2329	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	TPI1_ENST00000396705.5_5'Flank|USP5_ENST00000389231.5_Silent_p.I736I|TPI1_ENST00000229270.4_5'Flank	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	759	UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.|USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGGACTGGATCTTCAGTCACA	0.527																																						uc001qri.3		NA																	0				lung(2)|breast(1)|skin(1)	4						c.(2275-2277)ATC>ATT		ubiquitin specific peptidase 5 isoform 1							94.0	90.0	92.0					12																	6973918		2203	4300	6503	SO:0001819	synonymous_variant	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6973918C>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.2277C>T	12.37:g.6973918C>T						USP5_uc001qrh.3_Silent_p.I736I|TPI1_uc001qrk.2_5'Flank	p.I759I	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			18	2336	+			759			UBA 2.		D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	c.2277C>T	CCDS41743.1																																																																																				0.527	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			22	60	0	0	0	0	22	60				
C1S	716	broad.mit.edu	37	12	7171649	7171649	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:7171649C>T	ENST00000406697.1	+	8	1098	c.470C>T	c.(469-471)tCc>tTc	p.S157F	C1S_ENST00000328916.3_Missense_Mutation_p.S157F|C1S_ENST00000360817.5_Missense_Mutation_p.S157F|C1S_ENST00000402681.3_5'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	157	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TACTTCTGCTCCTGCCCCCCG	0.453																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2		NA																	0				skin(1)	1						c.(469-471)TCC>TTC		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						149.0	141.0	144.0					12																	7171649		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7171649C>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.470C>T	12.37:g.7171649C>T	ENSP00000385035:p.Ser157Phe					C1S_uc001qsk.2_Missense_Mutation_p.S157F|C1S_uc001qsl.2_Missense_Mutation_p.S157F|C1S_uc009zfr.2_5'UTR|C1S_uc009zfs.2_RNA	p.S157F	NM_201442	NP_958850	P09871	C1S_HUMAN			8	1189	+			157			EGF-like; calcium-binding.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.470C>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521604	0.85600	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000403949	D;D;D;D	0.97209	-4.29;-4.29;-4.29;-3.04	5.96	5.96	0.96718	EGF-like calcium-binding (2);	0.000000	0.42053	D	0.000762	D	0.98346	0.9451	M	0.82056	2.57	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.98847	1.0757	10	0.72032	D	0.01	.	16.4555	0.84011	0.0:0.8692:0.1308:0.0	.	157	P09871	C1S_HUMAN	F	157;157;157;146;157	ENSP00000385035:S157F;ENSP00000328173:S157F;ENSP00000354057:S157F;ENSP00000384464:S157F	ENSP00000328173:S157F	S	+	2	0	C1S	7041910	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.141000	0.64814	2.832000	0.97577	0.655000	0.94253	TCC		0.453	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		61	116	0	0	0	0	61	116				
CD163L1	283316	broad.mit.edu	37	12	7527338	7527338	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:7527338G>A	ENST00000313599.3	-	13	3166	c.3109C>T	c.(3109-3111)Cgc>Tgc	p.R1037C	CD163L1_ENST00000396630.1_Missense_Mutation_p.R1037C|CD163L1_ENST00000416109.2_Missense_Mutation_p.R1047C|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1037	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCACTAGGCGGAGCCGTTTG	0.517											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3109-3111)CGC>TGC		scavenger receptor cysteine-rich type 1																																				SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527338G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3109C>T	12.37:g.7527338G>A	ENSP00000315945:p.Arg1037Cys		OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	642	CD163L1_uc010sge.1_Missense_Mutation_p.R1047C	p.R1037C	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			13	3135	-			1037			SRCR 10.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3109C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788698	0.49997	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.54479	0.57;0.57;0.57	2.48	1.56	0.23342	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.707951	0.11445	N	0.563379	T	0.79353	0.4431	H	0.97465	4.01	0.34423	D	0.697678	D;D	0.89917	1.0;1.0	D;D	0.76575	0.927;0.988	T	0.80569	-0.1324	10	0.87932	D	0	.	7.5986	0.28063	0.142:0.0:0.858:0.0	.	1047;1037	E7EVK4;Q9NR16	.;C163B_HUMAN	C	1037;1047;1037	ENSP00000315945:R1037C;ENSP00000393474:R1047C;ENSP00000379871:R1037C	ENSP00000315945:R1037C	R	-	1	0	CD163L1	7418605	0.009000	0.17119	0.405000	0.26409	0.119000	0.20118	0.373000	0.20484	0.591000	0.29711	0.456000	0.33151	CGC		0.517	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		7	41	0	0	0	0	7	41				
CD163	9332	broad.mit.edu	37	12	7647932	7647932	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:7647932C>T	ENST00000359156.4	-	6	1367	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	CD163_ENST00000541972.1_Missense_Mutation_p.E377K|CD163_ENST00000396620.3_Missense_Mutation_p.E389K|CD163_ENST00000432237.2_Missense_Mutation_p.E389K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	389	SRCR 4. {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.E389*(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)	CTCTGAATCTCCACCTCAACT	0.493																																						uc001qsz.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1165-1167)GAG>AAG		CD163 antigen isoform a							142.0	126.0	131.0					12																	7647932		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7647932C>T	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.1165G>A	12.37:g.7647932C>T	ENSP00000352071:p.Glu389Lys					CD163_uc001qta.3_Missense_Mutation_p.E389K|CD163_uc009zfw.2_Missense_Mutation_p.E389K	p.E389K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			6	1293	-			389			SRCR 4.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1165G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763798	0.31228	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.01	2.02	0.26589	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.372474	0.25071	N	0.033367	T	0.06735	0.0172	N	0.02865	-0.47	0.09310	N	1	B;B;B	0.13145	0.007;0.002;0.004	B;B;B	0.16289	0.015;0.004;0.011	T	0.36407	-0.9749	10	0.02654	T	1	.	2.7015	0.05149	0.1546:0.5613:0.1505:0.1336	.	389;389;389	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	K	389;377;389;389	ENSP00000352071:E389K;ENSP00000444071:E377K;ENSP00000379863:E389K;ENSP00000403885:E389K	ENSP00000352071:E389K	E	-	1	0	CD163	7539199	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.436000	0.06922	0.826000	0.34661	0.650000	0.86243	GAG		0.493	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		19	101	0	0	0	0	19	101				
C3AR1	719	broad.mit.edu	37	12	8212050	8212050	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8212050C>T	ENST00000307637.4	-	2	935	c.732G>A	c.(730-732)agG>agA	p.R244R		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	244					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TAGCAGAACCCCTAGGGAGTG	0.418																																						uc001qtv.1		NA																	0				ovary(1)	1						c.(730-732)AGG>AGA		complement component 3a receptor 1							69.0	70.0	70.0					12																	8212050		2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212050C>T	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.732G>A	12.37:g.8212050C>T							p.R244R	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	824	-			244			Extracellular (Potential).		O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.732G>A	CCDS8588.1																																																																																				0.418	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			18	76	0	0	0	0	18	76				
NECAP1	25977	broad.mit.edu	37	12	8244401	8244402	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8244401_8244402GG>AA	ENST00000339754.5	+	4	416_417	c.338_339GG>AA	c.(337-339)cGG>cAA	p.R113Q		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	113					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TTCACAGATCGGGGAGATGCCT	0.505																																						uc001qtx.2		NA																	0				ovary(1)	1						c.(337-339)CGG>CAA		NECAP endocytosis associated 1																																				SO:0001583	missense	25977				endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		g.chr12:8244401_8244402GG>AA	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	Exception_encountered	12.37:g.8244401_8244402delinsAA	ENSP00000341737:p.Arg113Gln					NECAP1_uc001qty.2_Intron	p.R113Q	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN		Kidney(36;0.0915)	4	416_417	+			113					Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Missense_Mutation	DNP	ENST00000339754.5	37	c.338_339GG>AA	CCDS8589.1																																																																																				0.505	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509		6	28	0	0	0	0	6	28				
FAM90A1	55138	broad.mit.edu	37	12	8376723	8376723	+	Missense_Mutation	SNP	G	G	C	rs117679735	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8376723G>C	ENST00000538603.1	-	5	770	c.212C>G	c.(211-213)cCg>cGg	p.P71R	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P71R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	71							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CCCAAAGTTCGGTGGAACCAG	0.547																																						uc001qui.2		NA																	0				ovary(1)	1						c.(211-213)CCG>CGG		hypothetical protein LOC55138							72.0	86.0	81.0					12																	8376723		2203	4300	6503	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8376723G>C	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.212C>G	12.37:g.8376723G>C	ENSP00000445418:p.Pro71Arg					FAM90A1_uc001quh.2_Missense_Mutation_p.P71R	p.P71R	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	5	771	-			71					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.212C>G	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.014041	0.00422	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.40225	1.04;1.04	0.706	-0.927	0.10451	.	.	.	.	.	T	0.19366	0.0465	N	0.08118	0	0.09310	N	1	B	0.23249	0.082	B	0.22753	0.041	T	0.17930	-1.0353	8	0.40728	T	0.16	2.7714	.	.	.	.	71	Q86YD7	F90A1_HUMAN	R	71	ENSP00000307798:P71R;ENSP00000445418:P71R	ENSP00000307798:P71R	P	-	2	0	FAM90A1	8267990	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.818000	0.04467	-0.279000	0.09167	-1.439000	0.01073	CCG		0.547	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		26	184	0	0	0	0	26	184				
STYK1	55359	broad.mit.edu	37	12	10772810	10772810	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:10772810G>A	ENST00000075503.3	-	11	1722	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	401						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						ATACAGTTCAGGTACCACCAA	0.517										HNSCC(73;0.22)																												uc001qys.2		NA																	0				central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(1201-1203)CCT>CTT		serine/threonine/tyrosine kinase 1							188.0	178.0	181.0					12																	10772810		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10772810G>A	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1202C>T	12.37:g.10772810G>A	ENSP00000075503:p.Pro401Leu	HNSCC(73;0.22)					p.P401L	NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN			11	1723	-			401					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.1202C>T	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628850	0.28978	.	.	ENSG00000060140	ENST00000075503	T	0.77877	-1.13	4.96	4.96	0.65561	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000007	D	0.84065	0.5390	M	0.67953	2.075	0.80722	D	1	D	0.58620	0.983	P	0.56434	0.798	D	0.86382	0.1730	10	0.87932	D	0	-15.6113	15.6766	0.77332	0.0:0.0:1.0:0.0	.	401	Q6J9G0	STYK1_HUMAN	L	401	ENSP00000075503:P401L	ENSP00000075503:P401L	P	-	2	0	STYK1	10664077	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	6.351000	0.73022	2.279000	0.76181	0.563000	0.77884	CCT		0.517	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		46	232	0	0	0	0	46	232				
STYK1	55359	broad.mit.edu	37	12	10774549	10774549	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:10774549G>A	ENST00000075503.3	-	10	1510	c.990C>T	c.(988-990)gtC>gtT	p.V330V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	330	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TGGTAGGAGGGACTTCAGGAT	0.423										HNSCC(73;0.22)																												uc001qys.2		NA																	0				central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(988-990)GTC>GTT		serine/threonine/tyrosine kinase 1							204.0	190.0	194.0					12																	10774549		2203	4300	6503	SO:0001819	synonymous_variant	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10774549G>A	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.990C>T	12.37:g.10774549G>A		HNSCC(73;0.22)					p.V330V	NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN			10	1511	-			330			Protein kinase.		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Silent	SNP	ENST00000075503.3	37	c.990C>T	CCDS8629.1																																																																																				0.423	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		14	109	0	0	0	0	14	109				
PRH1	5554	broad.mit.edu	37	12	11034878	11034878	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11034878C>T	ENST00000428168.2	-	4	494	c.457G>A	c.(457-459)Ggg>Agg	p.G153R	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	153						extracellular space (GO:0005615)				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GGGCGGCCCCCTTGGGGAGGT	0.582																																						uc001qzc.2		NA																	0					0						c.(457-459)GGG>AGG		proline-rich protein HaeIII subfamily 1							57.0	67.0	64.0					12																	11034878		2202	4295	6497	SO:0001583	missense	5554					extracellular space	protein binding	g.chr12:11034878C>T			12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.457G>A	12.37:g.11034878C>T	ENSP00000412436:p.Gly153Arg					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_RNA|PRB4_uc001qzf.1_Intron	p.G153R	NM_006250	NP_006241	P02810	PRPC_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.245)	8	1045	-			153					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000428168.2	37	c.457G>A		.	.	.	.	.	.	.	.	.	.	C	3.644	-0.072903	0.07228	.	.	ENSG00000231887	ENST00000428168	T	0.04406	3.63	0.805	0.805	0.18703	.	.	.	.	.	T	0.05823	0.0152	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38866	-0.9641	6	0.51188	T	0.08	.	4.9008	0.13773	0.0:1.0:0.0:0.0	.	.	.	.	R	153	ENSP00000412436:G153R	ENSP00000412436:G153R	G	-	1	0	PRH1	10926145	0.004000	0.15560	0.003000	0.11579	0.006000	0.05464	0.489000	0.22387	0.698000	0.31739	0.205000	0.17691	GGG		0.582	PRH1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006250		10	176	0	0	0	0	10	176				
TAS2R13	50838	broad.mit.edu	37	12	11061286	11061286	+	Silent	SNP	G	G	A	rs140528790		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11061286G>A	ENST00000390677.2	-	1	875	c.612C>T	c.(610-612)tcC>tcT	p.S204S	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	204					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.S204S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GTTTCTGCAGGGAGAAAATTA	0.398																																						uc001qzg.1		NA																	1	Substitution - coding silent(1)	p.S204S(1)	skin(1)	breast(1)|skin(1)	2						c.(610-612)TCC>TCT		taste receptor, type 2, member 13							87.0	89.0	88.0					12																	11061286		2203	4299	6502	SO:0001819	synonymous_variant	50838				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:11061286G>A	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.612C>T	12.37:g.11061286G>A						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	p.S204S	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN			1	876	-			204			Helical; Name=5; (Potential).		Q4G0I5|Q502V8|Q645X2	Silent	SNP	ENST00000390677.2	37	c.612C>T	CCDS8635.1																																																																																				0.398	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1			31	69	0	0	0	0	31	69				
PRB3	5544	broad.mit.edu	37	12	11420677	11420678	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11420677_11420678CC>TT	ENST00000279573.7	-	3	640_641	c.505_506GG>AA	c.(505-507)GGa>AAa	p.G169K	PRB3_ENST00000381842.3_Missense_Mutation_p.G169K|PRB3_ENST00000538488.1_Missense_Mutation_p.G148K|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	169	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGGT	0.649																																						uc001qzs.2		NA																	0				skin(1)	1						c.(505-507)GGA>AAA		proline-rich protein BstNI subfamily 3																																				SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420677_11420678CC>TT			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.505_506delinsTT	12.37:g.11420677_11420678delinsTT	ENSP00000279573:p.Gly169Lys					PRB4_uc001qzf.1_Intron	p.G169K	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	543_544	-			169		Missing (in allele S).	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|6.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	DNP	ENST00000279573.7	37	c.505_506GG>AA																																																																																					0.649	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		41	266	0	0	0	0	41	266				
PRB4	5545	broad.mit.edu	37	12	11461790	11461790	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11461790C>T	ENST00000535904.1	-	3	160	c.127G>A	c.(127-129)Gga>Aga	p.G43R	PRB4_ENST00000445719.2_Missense_Mutation_p.G43R|PRB4_ENST00000279575.1_Missense_Mutation_p.G43R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	43	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGTTTCCTCCTTGTGGGCGT	0.567										HNSCC(22;0.051)																												uc001qzf.1		NA																	0				ovary(1)	1						c.(127-129)GGA>AGA		proline-rich protein BstNI subfamily 4							193.0	207.0	202.0					12																	11461790		2196	4294	6490	SO:0001583	missense	5545					extracellular region		g.chr12:11461790C>T		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.127G>A	12.37:g.11461790C>T	ENSP00000442834:p.Gly43Arg	HNSCC(22;0.051)				PRB4_uc001qzt.2_Missense_Mutation_p.G43R	p.G43R	NM_002723	NP_002714	P10163	PRB4_HUMAN			3	161	-			43			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|1.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.127G>A	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	6.118	0.389945	0.11581	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04502	3.61;3.61;3.61	0.641	-0.993	0.10228	.	.	.	.	.	T	0.09862	0.0242	L	0.47716	1.5	0.09310	N	1	D	0.71674	0.998	P	0.61328	0.887	T	0.21827	-1.0234	8	0.45353	T	0.12	.	.	.	.	.	43	E9PAL0	.	R	43	ENSP00000279575:G43R;ENSP00000442834:G43R;ENSP00000412740:G43R	ENSP00000279575:G43R	G	-	1	0	PRB4	11353057	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	0.192000	0.17096	-0.336000	0.08438	0.186000	0.17326	GGA		0.567	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		56	392	0	0	0	0	56	392				
PRB2	653247	broad.mit.edu	37	12	11546792	11546792	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11546792G>A	ENST00000389362.4	-	3	255	c.220C>T	c.(220-222)Cct>Tct	p.P74S	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	74	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGGGGA	0.602																																						uc010shk.1		NA																	0					0						c.(220-222)CCT>TCT		proline-rich protein BstNI subfamily 2							127.0	145.0	139.0					12																	11546792		2160	4238	6398	SO:0001583	missense	653247							g.chr12:11546792G>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.220C>T	12.37:g.11546792G>A	ENSP00000374013:p.Pro74Ser						p.P74S	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	255	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.220C>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	3.394	-0.123760	0.06795	.	.	ENSG00000121335	ENST00000389362	T	0.04809	3.55	1.69	-1.32	0.09201	.	0.000000	0.35436	U	0.003202	T	0.03434	0.0099	M	0.62723	1.935	0.09310	N	1	P	0.44344	0.833	B	0.35727	0.209	T	0.47086	-0.9144	10	0.07990	T	0.79	.	4.6095	0.12395	0.1656:0.2229:0.6116:0.0	.	74	P02812	PRB2_HUMAN	S	74	ENSP00000374013:P74S	ENSP00000374013:P74S	P	-	1	0	PRB2	11438059	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.147000	0.16202	-0.572000	0.06006	-0.478000	0.04885	CCT		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		71	362	0	0	0	0	71	362				
KIAA1467	57613	broad.mit.edu	37	12	13224269	13224269	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:13224269C>T	ENST00000197268.8	+	10	1583	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	488						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCAGTTACTTCAGACCAGAAG	0.517																																						uc001rbi.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(1462-1464)TCA>TTA		hypothetical protein LOC57613							117.0	110.0	112.0					12																	13224269		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13224269C>T	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1463C>T	12.37:g.13224269C>T	ENSP00000197268:p.Ser488Leu					KIAA1467_uc009zhx.1_RNA	p.S488L	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	10	1486	+		Prostate(47;0.184)	488					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.1463C>T	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.520843	0.44866	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.40756	1.02	5.45	4.55	0.56014	.	0.464636	0.23650	N	0.045937	T	0.30008	0.0751	L	0.33485	1.01	0.31744	N	0.635453	B	0.10296	0.003	B	0.17098	0.017	T	0.26780	-1.0093	10	0.42905	T	0.14	-6.4494	6.8013	0.23752	0.0:0.7453:0.0:0.2547	.	488	A2RU67	K1467_HUMAN	L	488;264	ENSP00000197268:S488L	ENSP00000197268:S488L	S	+	2	0	KIAA1467	13115536	1.000000	0.71417	0.821000	0.32701	0.885000	0.51271	2.406000	0.44557	1.258000	0.44101	0.558000	0.71614	TCA		0.517	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		62	54	0	0	0	0	62	54				
GRIN2B	2904	broad.mit.edu	37	12	13716871	13716871	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:13716871C>T	ENST00000609686.1	-	13	3510	c.3301G>A	c.(3301-3303)Gag>Aag	p.E1101K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1101					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCGTCAAACTCCCTGCGGGAC	0.612																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3301-3303)GAG>AAG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						60.0	55.0	57.0					12																	13716871		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716871C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3301G>A	12.37:g.13716871C>T	ENSP00000477455:p.Glu1101Lys						p.E1101K	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3480	-			1101			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3301G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011970	0.75046	.	.	ENSG00000150086	ENST00000279593	T	0.15139	2.45	5.55	5.55	0.83447	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	L	0.58101	1.795	0.80722	D	1	D	0.64830	0.994	D	0.69307	0.963	T	0.01706	-1.1291	10	0.34782	T	0.22	.	19.4974	0.95079	0.0:1.0:0.0:0.0	.	1101	Q13224	NMDE2_HUMAN	K	1101	ENSP00000279593:E1101K	ENSP00000279593:E1101K	E	-	1	0	GRIN2B	13608138	1.000000	0.71417	0.979000	0.43373	0.591000	0.36615	7.412000	0.80091	2.606000	0.88127	0.655000	0.94253	GAG		0.612	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			35	33	0	0	0	0	35	33				
GRIN2B	2904	broad.mit.edu	37	12	13768162	13768162	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:13768162T>G	ENST00000609686.1	-	7	1749	c.1540A>C	c.(1540-1542)Acc>Ccc	p.T514P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	514					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCATTGATGGTGAGTGAGCCC	0.532																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(1540-1542)ACC>CCC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						143.0	116.0	125.0					12																	13768162		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13768162T>G		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1540A>C	12.37:g.13768162T>G	ENSP00000477455:p.Thr514Pro						p.T514P	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			7	1719	-			514			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1540A>C	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	T	34	5.349331	0.95830	.	.	ENSG00000150086	ENST00000279593	T	0.59083	0.29	6.17	6.17	0.99709	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.83492	0.5266	H	0.95712	3.71	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.88324	0.2964	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	514	Q13224	NMDE2_HUMAN	P	514	ENSP00000279593:T514P	ENSP00000279593:T514P	T	-	1	0	GRIN2B	13659429	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.035000	0.88872	2.371000	0.80710	0.533000	0.62120	ACC		0.532	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			10	66	0	0	0	0	10	66				
EPS8	2059	broad.mit.edu	37	12	15834210	15834210	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:15834210G>A	ENST00000281172.5	-	3	522	c.86C>T	c.(85-87)tCc>tTc	p.S29F	EPS8_ENST00000543612.1_Missense_Mutation_p.S29F|EPS8_ENST00000543523.1_Missense_Mutation_p.S29F	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	29					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GTCCGTCTGGGAAAAGGTAGG	0.313																																						uc009zif.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(85-87)TCC>TTC		epidermal growth factor receptor pathway							97.0	96.0	97.0					12																	15834210		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15834210G>A	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.86C>T	12.37:g.15834210G>A	ENSP00000281172:p.Ser29Phe					EPS8_uc001rdb.2_Missense_Mutation_p.S29F|EPS8_uc009zig.2_5'UTR	p.S29F	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	3	180	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	29					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.86C>T	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217797	0.58560	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223;ENST00000546311;ENST00000535752;ENST00000543363;ENST00000536793;ENST00000544064	T;T;T;T;T	0.49432	3.28;3.28;3.28;0.78;0.78	5.33	5.33	0.75918	.	0.267324	0.37393	N	0.002118	T	0.48804	0.1520	L	0.50333	1.59	0.80722	D	1	P	0.49961	0.93	P	0.46049	0.502	T	0.52939	-0.8508	10	0.87932	D	0	-3.1905	14.3959	0.67010	0.0:0.0:1.0:0.0	.	29	Q12929	EPS8_HUMAN	F	29	ENSP00000441867:S29F;ENSP00000281172:S29F;ENSP00000442388:S29F;ENSP00000445235:S29F;ENSP00000440591:S29F	ENSP00000281172:S29F	S	-	2	0	EPS8	15725477	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.953000	0.63624	2.771000	0.95319	0.650000	0.86243	TCC		0.313	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			25	123	0	0	0	0	25	123				
PLCZ1	89869	broad.mit.edu	37	12	18876368	18876368	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:18876368C>T	ENST00000266505.7	-	4	507	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E80K					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTCCGGTTTTCAGAATATGTG	0.343																																						uc010sid.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(244-246)GAA>AAA		phospholipase C, zeta 1							87.0	87.0	87.0					12																	18876368		2202	4299	6501	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18876368C>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.244G>A	12.37:g.18876368C>T	ENSP00000266505:p.Glu82Lys					PLCZ1_uc001rdv.3_5'UTR|PLCZ1_uc001rdw.3_Intron	p.E82K	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			4	435	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		82						Missense_Mutation	SNP	ENST00000266505.7	37	c.244G>A	CCDS8680.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782390	0.31502	.	.	ENSG00000139151	ENST00000266505;ENST00000447925	T;T	0.17370	2.28;2.28	5.02	0.499	0.16914	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	1.095250	0.06905	N	0.806666	T	0.11537	0.0281	L	0.37850	1.14	0.41110	D	0.985734	B	0.27013	0.166	B	0.31946	0.138	T	0.42137	-0.9469	10	0.02654	T	1	.	4.5101	0.11906	0.1998:0.4991:0.2178:0.0833	.	82	Q86YW0	PLCZ1_HUMAN	K	82;80	ENSP00000266505:E82K;ENSP00000402358:E80K	ENSP00000266505:E82K	E	-	1	0	PLCZ1	18767635	0.857000	0.29778	0.999000	0.59377	0.801000	0.45260	0.156000	0.16382	0.458000	0.26988	0.563000	0.77884	GAA		0.343	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123		12	67	0	0	0	0	12	67				
PLEKHA5	54477	broad.mit.edu	37	12	19427805	19427805	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:19427805G>A	ENST00000299275.6	+	10	1189	c.1183G>A	c.(1183-1185)Ggg>Agg	p.G395R	PLEKHA5_ENST00000317589.4_Missense_Mutation_p.G395R|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.G395R|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.G395R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.G153R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.G287R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.G287R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.G401R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.G395R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.G395R	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	395					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCCCAATACAGGGCCCTTATA	0.458																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1183-1185)GGG>AGG		pleckstrin homology domain containing, family A							49.0	54.0	53.0					12																	19427805		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19427805G>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1183G>A	12.37:g.19427805G>A	ENSP00000299275:p.Gly395Arg					PLEKHA5_uc010sie.1_Missense_Mutation_p.G401R|PLEKHA5_uc001rea.2_Missense_Mutation_p.G395R|PLEKHA5_uc009zin.2_Missense_Mutation_p.G153R|PLEKHA5_uc010sif.1_Missense_Mutation_p.G287R|PLEKHA5_uc010sig.1_Missense_Mutation_p.G287R|PLEKHA5_uc010sih.1_Missense_Mutation_p.G287R|PLEKHA5_uc001rec.1_Missense_Mutation_p.G83R	p.G395R	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			10	1269	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		395					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1183G>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595645	0.46318	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.13538	2.97;3.01;2.97;3.02;3.0;2.97;2.58;3.01;2.96;2.97;2.96	5.82	5.82	0.92795	.	0.282014	0.32655	N	0.005819	T	0.18964	0.0455	L	0.44542	1.39	0.27432	N	0.953983	P;P;P;P;P;P;D	0.55800	0.713;0.896;0.716;0.943;0.944;0.898;0.973	P;P;B;B;B;B;P	0.51385	0.477;0.555;0.169;0.352;0.439;0.282;0.668	T	0.09596	-1.0667	10	0.23891	T	0.37	-15.1665	12.8797	0.58010	0.1152:0.0:0.8848:0.0	.	395;287;287;401;401;395;395	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	R	395;395;395;402;395;401;395;153;395;287;287;287	ENSP00000325155:G395R;ENSP00000347560:G395R;ENSP00000352104:G395R;ENSP00000311239:G395R;ENSP00000404296:G401R;ENSP00000299275:G395R;ENSP00000440611:G153R;ENSP00000439673:G395R;ENSP00000400411:G287R;ENSP00000439837:G287R;ENSP00000440371:G287R	ENSP00000299275:G395R	G	+	1	0	PLEKHA5	19319072	0.068000	0.21057	0.862000	0.33874	0.817000	0.46193	1.079000	0.30766	2.759000	0.94783	0.557000	0.71058	GGG		0.458	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		17	71	0	0	0	0	17	71				
PDE3A	5139	broad.mit.edu	37	12	20766428	20766428	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:20766428G>A	ENST00000359062.3	+	3	1103	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	355				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4). {ECO:0000305}.	blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CGAGGCCCACGGCCTCATTAC	0.537																																						uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1063-1065)GGC>AGC		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						102.0	92.0	95.0					12																	20766428		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766428G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1063G>A	12.37:g.20766428G>A	ENSP00000351957:p.Gly355Ser						p.G355S	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			3	1085	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	355	HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).				O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1063G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195891	0.94960	.	.	ENSG00000172572	ENST00000359062	T	0.54866	0.55	5.86	5.86	0.93980	.	40.599900	0.00166	N	0.000000	T	0.75354	0.3838	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59215	-0.7496	10	0.36615	T	0.2	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	355	Q14432	PDE3A_HUMAN	S	355	ENSP00000351957:G355S	ENSP00000351957:G355S	G	+	1	0	PDE3A	20657695	1.000000	0.71417	0.980000	0.43619	0.864000	0.49448	8.848000	0.92172	2.937000	0.99478	0.650000	0.86243	GGC		0.537	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			10	91	0	0	0	0	10	91				
SLCO1B3	28234	broad.mit.edu	37	12	21015719	21015719	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21015719C>T	ENST00000381545.3	+	8	877	c.658C>T	c.(658-660)Cca>Tca	p.P220S	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.P220S|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P220S|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P220S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	220					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AATGATTGGTCCAGTCATTGG	0.333																																						uc001rek.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(658-660)CCA>TCA		solute carrier organic anion transporter family,							189.0	168.0	175.0					12																	21015719		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21015719C>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.658C>T	12.37:g.21015719C>T	ENSP00000370956:p.Pro220Ser					SLCO1B3_uc001rel.2_Missense_Mutation_p.P220S|SLCO1B3_uc010sil.1_Missense_Mutation_p.P220S|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.P45S	p.P220S	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			7	784	+	Esophageal squamous(101;0.149)		220			Helical; Name=5; (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.658C>T	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949153	0.53186	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	3.9	0.669	0.17918	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.053396	0.85682	D	0.000000	D	0.84669	0.5523	M	0.92026	3.265	0.80722	D	1	P;P;P	0.45986	0.735;0.87;0.87	B;P;P	0.50162	0.389;0.633;0.633	T	0.81638	-0.0842	10	0.72032	D	0.01	.	4.8455	0.13512	0.2945:0.5369:0.0:0.1686	.	220;220;220	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	S	220;220;220;220;44;220	ENSP00000442000:P220S;ENSP00000261196:P220S;ENSP00000370956:P220S;ENSP00000451758:P220S;ENSP00000443225:P44S;ENSP00000441269:P220S	ENSP00000441269:P220S	P	+	1	0	SLCO1B3;RP11-545J16.1	20906986	0.004000	0.15560	0.758000	0.31321	0.153000	0.21895	1.360000	0.34125	0.135000	0.18707	-0.384000	0.06662	CCA		0.333	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		9	86	0	0	0	0	9	86				
SLCO1B1	10599	broad.mit.edu	37	12	21325692	21325692	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21325692C>T	ENST00000256958.2	+	3	289	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	65					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L65I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ATCCTCTTCTCTTGTTGGTTT	0.323																																						uc001req.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(193-195)CTT>TTT		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						129.0	118.0	122.0					12																	21325692		2202	4298	6500	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21325692C>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.193C>T	12.37:g.21325692C>T	ENSP00000256958:p.Leu65Phe						p.L65F	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			3	297	+			65			Extracellular (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.193C>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533619	0.45073	.	.	ENSG00000134538	ENST00000256958	T	0.59772	0.24	3.36	-6.54	0.01860	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.775040	0.02565	N	0.097141	T	0.71358	0.3330	M	0.79926	2.475	0.09310	N	1	P	0.48764	0.915	D	0.63283	0.913	T	0.70528	-0.4847	10	0.48119	T	0.1	.	7.6148	0.28152	0.5512:0.1373:0.3114:0.0	.	65	Q9Y6L6	SO1B1_HUMAN	F	65	ENSP00000256958:L65F	ENSP00000256958:L65F	L	+	1	0	SLCO1B1	21216959	0.000000	0.05858	0.010000	0.14722	0.906000	0.53458	-1.965000	0.01511	-1.314000	0.02300	0.313000	0.20887	CTT		0.323	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		26	38	0	0	0	0	26	38				
SLCO1A2	6579	broad.mit.edu	37	12	21453381	21453381	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21453381G>A	ENST00000307378.6	-	9	1531	c.811C>T	c.(811-813)Cca>Tca	p.P271S	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.P139S|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.P269S|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.P271S|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.P139S	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	271					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CCTTCCTTTGGAAGTGTGTTG	0.403																																						uc001rer.2		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(811-813)CCA>TCA		organic anion transporting polypeptide A							107.0	100.0	102.0					12																	21453381		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21453381G>A		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.811C>T	12.37:g.21453381G>A	ENSP00000305974:p.Pro271Ser					SLCO1A2_uc001res.2_Missense_Mutation_p.P271S|SLCO1A2_uc010siq.1_Missense_Mutation_p.P139S|SLCO1A2_uc010sio.1_Missense_Mutation_p.P139S|SLCO1A2_uc010sip.1_Missense_Mutation_p.P139S|SLCO1A2_uc001ret.2_Missense_Mutation_p.P269S|SLCO1A2_uc001reu.2_Missense_Mutation_p.P251S	p.P271S	NM_021094	NP_066580	P46721	SO1A2_HUMAN			7	1062	-			271			Cytoplasmic (Potential).		Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.811C>T	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412574	0.62511	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.55	2.57	0.30868	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.444582	0.26159	N	0.025993	T	0.60741	0.2292	M	0.85710	2.77	0.23468	N	0.997617	D;D;B	0.58970	0.984;0.971;0.221	P;P;B	0.61275	0.886;0.804;0.213	T	0.53358	-0.8450	10	0.59425	D	0.04	.	9.2515	0.37557	0.0:0.2702:0.4807:0.2491	.	251;269;271	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	S	271;271;139;139;269	ENSP00000305974:P271S;ENSP00000393973:P271S;ENSP00000394854:P139S;ENSP00000439401:P139S;ENSP00000375088:P269S	ENSP00000305974:P271S	P	-	1	0	SLCO1A2	21344648	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	1.589000	0.36644	0.694000	0.31654	0.563000	0.77884	CCA		0.403	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		10	61	0	0	0	0	10	61				
ABCC9	10060	broad.mit.edu	37	12	21968824	21968824	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21968824G>A	ENST00000261201.4	-	32	3895	c.3896C>T	c.(3895-3897)cCt>cTt	p.P1299L	ABCC9_ENST00000345162.2_Missense_Mutation_p.P1263L|ABCC9_ENST00000261200.4_Missense_Mutation_p.P1299L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1299					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AACTTGAGAAGGATCTGGAGG	0.358																																						uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(3895-3897)CCT>CTT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						120.0	109.0	113.0					12																	21968824		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21968824G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3896C>T	12.37:g.21968824G>A	ENSP00000261201:p.Pro1299Leu					ABCC9_uc001rfh.2_Missense_Mutation_p.P1299L|ABCC9_uc001rfj.1_Missense_Mutation_p.P1263L	p.P1299L	NM_005691	NP_005682	O60706	ABCC9_HUMAN			32	3916	-			1299			Cytoplasmic (Potential).		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3896C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494654	0.44352	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93366	-3.2;-3.04;-3.21;-3.19	4.95	4.95	0.65309	ABC transporter, transmembrane domain, type 1 (1);	0.310205	0.34750	N	0.003713	D	0.86606	0.5973	N	0.16790	0.44	0.45261	D	0.998266	B;B	0.18968	0.032;0.024	B;B	0.19946	0.027;0.012	T	0.82617	-0.0369	10	0.46703	T	0.11	-17.1251	11.0368	0.47806	0.0856:0.0:0.9144:0.0	.	1299;1299	O60706;O60706-2	ABCC9_HUMAN;.	L	1299;926;1299;1263	ENSP00000261200:P1299L;ENSP00000440521:P926L;ENSP00000261201:P1299L;ENSP00000261202:P1263L	ENSP00000261200:P1299L	P	-	2	0	ABCC9	21860091	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.500000	0.60387	2.565000	0.86533	0.585000	0.79938	CCT		0.358	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		12	52	0	0	0	0	12	52				
ABCC9	10060	broad.mit.edu	37	12	22005385	22005385	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:22005385C>T	ENST00000261201.4	-	21	2559	c.2560G>A	c.(2560-2562)Ggg>Agg	p.G854R	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G818R|ABCC9_ENST00000261200.4_Missense_Mutation_p.G854R	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	854	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTCAAAATCCCCTCCTGCATT	0.413																																						uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(2560-2562)GGG>AGG		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						119.0	111.0	114.0					12																	22005385		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22005385C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2560G>A	12.37:g.22005385C>T	ENSP00000261201:p.Gly854Arg					ABCC9_uc001rfh.2_Missense_Mutation_p.G854R|ABCC9_uc001rfj.1_Missense_Mutation_p.G818R	p.G854R	NM_005691	NP_005682	O60706	ABCC9_HUMAN			21	2580	-			854			Cytoplasmic (Potential).|ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2560G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365071	0.82463	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	4.58	4.58	0.56647	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	L	0.28192	0.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	D	0.92318	0.5863	10	0.52906	T	0.07	-12.9192	16.1017	0.81175	0.0:1.0:0.0:0.0	.	854;854	O60706;O60706-2	ABCC9_HUMAN;.	R	854;481;854;818	ENSP00000261200:G854R;ENSP00000440521:G481R;ENSP00000261201:G854R;ENSP00000261202:G818R	ENSP00000261200:G854R	G	-	1	0	ABCC9	21896652	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	7.326000	0.79133	2.520000	0.84964	0.650000	0.86243	GGG		0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		41	40	0	0	0	0	41	40				
ITPR2	3709	broad.mit.edu	37	12	26784938	26784938	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:26784938A>C	ENST00000381340.3	-	22	3211	c.2795T>G	c.(2794-2796)gTa>gGa	p.V932G	ITPR2_ENST00000545902.1_5'Flank|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	932					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCTACTGAGTACCATCTGGGT	0.552																																						uc001rhg.2		NA																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(2794-2796)GTA>GGA		inositol 1,4,5-triphosphate receptor, type 2							128.0	132.0	131.0					12																	26784938		2074	4217	6291	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26784938A>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2795T>G	12.37:g.26784938A>C	ENSP00000370744:p.Val932Gly						p.V932G	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			22	3212	-	Colorectal(261;0.0847)		932			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2795T>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447773	0.84101	.	.	ENSG00000123104	ENST00000381340	D	0.92348	-3.02	5.07	5.07	0.68467	.	0.186576	0.46442	D	0.000292	D	0.93281	0.7859	M	0.80982	2.52	0.80722	D	1	P	0.45396	0.857	P	0.47827	0.558	D	0.92228	0.5790	10	0.27082	T	0.32	.	14.9902	0.71381	1.0:0.0:0.0:0.0	.	932	Q14571	ITPR2_HUMAN	G	932	ENSP00000370744:V932G	ENSP00000370744:V932G	V	-	2	0	ITPR2	26676205	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.508000	0.90525	2.139000	0.66308	0.533000	0.62120	GTA		0.552	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		17	119	0	0	0	0	17	119				
KIF21A	55605	broad.mit.edu	37	12	39696913	39696913	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:39696913G>A	ENST00000361418.5	-	36	4600	c.4585C>T	c.(4585-4587)Ctt>Ttt	p.L1529F	KIF21A_ENST00000395670.3_Missense_Mutation_p.L1530F|KIF21A_ENST00000361961.3_Missense_Mutation_p.L1516F|KIF21A_ENST00000544797.2_Missense_Mutation_p.L1492F|KIF21A_ENST00000541463.2_Missense_Mutation_p.L1476F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1529					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ACAGTCCCAAGAGCTCCTTCT	0.388																																						uc001rly.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(4585-4587)CTT>TTT		kinesin family member 21A							84.0	79.0	81.0					12																	39696913		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39696913G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4585C>T	12.37:g.39696913G>A	ENSP00000354878:p.Leu1529Phe					KIF21A_uc001rlv.2_Missense_Mutation_p.L474F|KIF21A_uc001rlw.2_Missense_Mutation_p.L799F|KIF21A_uc001rlx.2_Missense_Mutation_p.L1516F|KIF21A_uc001rlz.2_Missense_Mutation_p.L1476F|KIF21A_uc010skl.1_Missense_Mutation_p.L1492F|KIF21A_uc001rlt.2_Missense_Mutation_p.L149F|KIF21A_uc001rlu.2_Missense_Mutation_p.L149F	p.L1529F	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			36	4731	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1529			WD 4.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.4585C>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184088	0.38609	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T;T	0.73897	-0.79;-0.75;0.14;-0.79;-0.7;-0.12	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.46758	D	0.000261	T	0.77711	0.4171	L	0.47716	1.5	0.41513	D	0.988354	D;D;P;D;D;D	0.76494	0.999;0.97;0.823;0.996;0.998;0.985	D;P;B;D;D;P	0.67548	0.952;0.714;0.359;0.918;0.95;0.897	T	0.72268	-0.4343	10	0.09338	T	0.73	.	12.1065	0.53816	0.0783:0.0:0.9217:0.0	.	1492;1476;1529;1516;1482;516	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	F	1516;1530;1482;516;510;1492;1529;1476	ENSP00000354851:L1516F;ENSP00000379029:L1530F;ENSP00000448792:L510F;ENSP00000445606:L1492F;ENSP00000354878:L1529F;ENSP00000438075:L1476F	ENSP00000344501:L1482F	L	-	1	0	KIF21A	37983180	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.505000	0.73708	2.429000	0.82318	0.591000	0.81541	CTT		0.388	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		21	48	0	0	0	0	21	48				
KIF21A	55605	broad.mit.edu	37	12	39726014	39726014	+	Splice_Site	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:39726014A>G	ENST00000361418.5	-	21	3067		c.e21+1		KIF21A_ENST00000395670.3_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAAATTACAAACCTTTGCTTC	0.308																																						uc001rly.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.e21+1		kinesin family member 21A							96.0	95.0	95.0					12																	39726014		2203	4300	6503	SO:0001630	splice_region_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39726014A>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3051+1T>C	12.37:g.39726014A>G						KIF21A_uc001rlv.2_Intron|KIF21A_uc001rlw.2_Splice_Site_p.K334_splice|KIF21A_uc001rlx.2_Splice_Site_p.K1004_splice|KIF21A_uc001rlz.2_Splice_Site_p.K981_splice|KIF21A_uc010skl.1_Splice_Site_p.K1004_splice	p.K1017_splice	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			21	3197	-		Lung NSC(34;0.179)|all_lung(34;0.213)						A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Splice_Site	SNP	ENST00000361418.5	37	c.3051_splice	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880883	0.72294	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000552961;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000551066	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7892	0.78338	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21A	38012281	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	9.057000	0.93889	2.123000	0.65237	0.528000	0.53228	.		0.308	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Intron	41	77	0	0	0	0	41	77				
ABCD2	225	broad.mit.edu	37	12	39973417	39973417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:39973417C>T	ENST00000308666.3	-	8	1932	c.1797G>A	c.(1795-1797)tgG>tgA	p.W599*		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	599	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TAACAGCATCCCATCCTTAAG	0.323																																						uc001rmb.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1795-1797)TGG>TGA		ATP-binding cassette, sub-family D, member 2							134.0	129.0	131.0					12																	39973417		2203	4300	6503	SO:0001587	stop_gained	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39973417C>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1797G>A	12.37:g.39973417C>T	ENSP00000310688:p.Trp599*						p.W599*	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			8	2223	-			599			ABC transporter.		B2RAM3|Q13210|Q2M3H9	Nonsense_Mutation	SNP	ENST00000308666.3	37	c.1797G>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	40	8.139449	0.98672	.	.	ENSG00000173208	ENST00000308666	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.5078	18.8662	0.92293	0.0:1.0:0.0:0.0	.	.	.	.	X	599	.	.	W	-	3	0	ABCD2	38259684	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.520000	0.81821	2.459000	0.83118	0.579000	0.79373	TGG		0.323	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		25	95	0	0	0	0	25	95				
LRRK2	120892	broad.mit.edu	37	12	40714868	40714868	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:40714868C>T	ENST00000298910.7	+	35	5106	c.5048C>T	c.(5047-5049)cCc>cTc	p.P1683L		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1683					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)				ATAGAGCTTCCCCATTGTGAG	0.383																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(5047-5049)CCC>CTC		leucine-rich repeat kinase 2							203.0	195.0	198.0					12																	40714868		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.chr12:40714868C>T	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.5048C>T	12.37:g.40714868C>T	ENSP00000298910:p.Pro1683Leu					LRRK2_uc009zjw.2_Missense_Mutation_p.P521L|LRRK2_uc001rmi.2_Missense_Mutation_p.P516L	p.P1683L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			35	5169	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1683					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5048C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030554	0.93575	.	.	ENSG00000188906	ENST00000298910	T	0.73681	-0.77	5.96	5.96	0.96718	.	0.109437	0.64402	D	0.000004	D	0.83538	0.5276	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	D	0.83637	0.0148	10	0.72032	D	0.01	.	20.4082	0.99013	0.0:1.0:0.0:0.0	.	1683;1683	Q17RV3;Q5S007	.;LRRK2_HUMAN	L	1683	ENSP00000298910:P1683L	ENSP00000298910:P1683L	P	+	2	0	LRRK2	39001135	1.000000	0.71417	0.963000	0.40424	0.991000	0.79684	7.228000	0.78079	2.814000	0.96858	0.655000	0.94253	CCC		0.383	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		25	128	0	0	0	0	25	128				
LRRK2	120892	broad.mit.edu	37	12	40758754	40758754	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:40758754G>A	ENST00000298910.7	+	49	7350	c.7292G>A	c.(7291-7293)gGa>gAa	p.G2431E		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2431					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)				GGAACTGGAGGAGGCCATATT	0.408											OREG0003828	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.(7291-7293)GGA>GAA		leucine-rich repeat kinase 2							109.0	102.0	104.0					12																	40758754		2202	4300	6502	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.chr12:40758754G>A	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.7292G>A	12.37:g.40758754G>A	ENSP00000298910:p.Gly2431Glu		OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	895	LRRK2_uc009zjw.2_Missense_Mutation_p.G1269E|LRRK2_uc001rmi.2_Missense_Mutation_p.G1264E	p.G2431E	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			49	7413	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2431					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.7292G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528458	0.85706	.	.	ENSG00000188906	ENST00000298910	T	0.34667	1.35	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051437	0.85682	D	0.000000	T	0.60405	0.2266	M	0.66939	2.045	0.48632	D	0.999687	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.63466	-0.6631	10	0.72032	D	0.01	.	18.9114	0.92487	0.0:0.0:1.0:0.0	.	2431;2431	Q17RV3;Q5S007	.;LRRK2_HUMAN	E	2431	ENSP00000298910:G2431E	ENSP00000298910:G2431E	G	+	2	0	LRRK2	39045021	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.076000	0.76806	2.453000	0.82957	0.585000	0.79938	GGA		0.408	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		11	74	0	0	0	0	11	74				
PDZRN4	29951	broad.mit.edu	37	12	41967305	41967305	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:41967305C>T	ENST00000402685.2	+	10	2732	c.2724C>T	c.(2722-2724)gaC>gaT	p.D908D	PDZRN4_ENST00000298919.7_Silent_p.D648D|PDZRN4_ENST00000539469.2_Silent_p.D650D	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	908							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCGTGCGAGACCGAATCCTGA	0.517																																						uc010skn.1		NA																	0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(2125-2127)GAC>GAT		PDZ domain containing RING finger 4 isoform 2							100.0	91.0	94.0					12																	41967305		2203	4300	6503	SO:0001819	synonymous_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967305C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2724C>T	12.37:g.41967305C>T						PDZRN4_uc001rmq.3_Silent_p.D650D|PDZRN4_uc009zjz.2_Silent_p.D648D|PDZRN4_uc001rmr.2_Silent_p.D535D	p.D709D	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	2195	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	908					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	c.2127C>T	CCDS53777.1																																																																																				0.517	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		11	73	0	0	0	0	11	73				
PUS7L	83448	broad.mit.edu	37	12	44148206	44148206	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:44148206C>T	ENST00000416848.2	-	2	1331	c.843G>A	c.(841-843)cgG>cgA	p.R281R	PUS7L_ENST00000551923.1_Silent_p.R281R|PUS7L_ENST00000553166.1_Silent_p.R281R|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Silent_p.R281R	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	281					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTGCTTTTTCCCGAAATCTTA	0.353																																						uc001rnq.3		NA																	0				pancreas(1)	1						c.(841-843)CGG>CGA		pseudouridylate synthase 7 homolog (S.							160.0	158.0	159.0					12																	44148206		2203	4300	6503	SO:0001819	synonymous_variant	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148206C>T	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.843G>A	12.37:g.44148206C>T						PUS7L_uc001rnr.3_Silent_p.R281R|PUS7L_uc001rns.3_Silent_p.R281R|PUS7L_uc009zkb.2_Intron	p.R281R	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	1332	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	281					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	37	c.843G>A	CCDS8743.1																																																																																				0.353	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		71	142	0	0	0	0	71	142				
SLC38A2	54407	broad.mit.edu	37	12	46761092	46761092	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:46761092G>A	ENST00000256689.5	-	5	790	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	SLC38A2_ENST00000551374.1_5'Flank|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	116					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ACAGAATACAGGGAAAATATT	0.333																																					Ovarian(9;448 492 8335 28722 40361)	uc001rpg.2		NA																	0				urinary_tract(1)|skin(1)	2						c.(346-348)CTG>TTG		solute carrier family 38, member 2							125.0	128.0	127.0					12																	46761092		2203	4300	6503	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46761092G>A	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.346C>T	12.37:g.46761092G>A						SLC38A2_uc010sli.1_5'Flank|SLC38A2_uc001rph.2_Silent_p.L16L	p.L116L	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	5	786	-	Lung SC(27;0.192)|Renal(347;0.236)		116			Helical; (Potential).		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.346C>T	CCDS8749.1																																																																																				0.333	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			26	182	0	0	0	0	26	182				
SLC38A4	55089	broad.mit.edu	37	12	47181734	47181734	+	Silent	SNP	G	G	A	rs564468243		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:47181734G>A	ENST00000447411.1	-	4	497	c.291C>T	c.(289-291)tcC>tcT	p.S97S	SLC38A4_ENST00000266579.4_Silent_p.S97S	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	97					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCATGGCATAGGACAAGCCCA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20996	0.001		0.0	False		,,,				2504	0.0					uc001rpi.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(289-291)TCC>TCT		solute carrier family 38, member 4							108.0	97.0	101.0					12																	47181734		2203	4300	6503	SO:0001819	synonymous_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47181734G>A	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.291C>T	12.37:g.47181734G>A						SLC38A4_uc001rpj.2_Silent_p.S97S|SLC38A4_uc009zkl.2_Silent_p.S97S	p.S97S	NM_018018	NP_060488	Q969I6	S38A4_HUMAN			5	690	-	Lung SC(27;0.192)|Renal(347;0.236)		97			Helical; (Potential).		A8K553	Silent	SNP	ENST00000447411.1	37	c.291C>T	CCDS8750.1																																																																																				0.428	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			34	57	0	0	0	0	34	57				
COL2A1	1280	broad.mit.edu	37	12	48383559	48383559	+	Silent	SNP	G	G	A	rs398123628		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:48383559G>A	ENST00000380518.3	-	17	1217	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	COL2A1_ENST00000337299.6_Silent_p.G282G|COL2A1_ENST00000493991.1_5'Flank	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	351	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCCCTGCGGGGCCTGGCTGAC	0.597																																						uc001rqu.2		NA																	0				ovary(1)|skin(1)	2						c.(1051-1053)GGC>GGT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						94.0	90.0	92.0					12																	48383559		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48383559G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1053C>T	12.37:g.48383559G>A						COL2A1_uc009zkw.2_5'Flank|COL2A1_uc001rqv.2_Silent_p.G282G	p.G351G	NM_001844	NP_001835	P02458	CO2A1_HUMAN			17	1234	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	351			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.1053C>T	CCDS41778.1																																																																																				0.597	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		29	76	0	0	0	0	29	76				
ASB8	140461	broad.mit.edu	37	12	48543601	48543601	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:48543601C>T	ENST00000317697.3	-	4	584	c.415G>A	c.(415-417)Gag>Aag	p.E139K	ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.E139K	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	139					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GCCCCGCTCTCTAGGAGAGCC	0.527																																						uc001rrh.2		NA																	0				kidney(1)	1						c.(415-417)GAG>AAG		ankyrin repeat and SOCS box-containing 8							73.0	67.0	69.0					12																	48543601		2203	4300	6503	SO:0001583	missense	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543601C>T	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.415G>A	12.37:g.48543601C>T	ENSP00000320893:p.Glu139Lys					ASB8_uc010slr.1_Missense_Mutation_p.E135K	p.E139K	NM_024095	NP_077000	Q9H765	ASB8_HUMAN			4	584	-			139			ANK 3.		A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	c.415G>A	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096029	0.76870	.	.	ENSG00000177981	ENST00000317697;ENST00000536549	T;T	0.67171	-0.25;-0.25	5.05	5.05	0.67936	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	N	0.21240	0.645	0.80722	D	1	D	0.57899	0.981	D	0.71184	0.972	T	0.71902	-0.4452	10	0.38643	T	0.18	-15.2182	18.394	0.90492	0.0:1.0:0.0:0.0	.	139	Q9H765	ASB8_HUMAN	K	139	ENSP00000320893:E139K;ENSP00000445622:E139K	ENSP00000320893:E139K	E	-	1	0	ASB8	46829868	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.227000	0.78070	2.531000	0.85337	0.561000	0.74099	GAG		0.527	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			14	80	0	0	0	0	14	80				
CCDC65	85478	broad.mit.edu	37	12	49312668	49312668	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49312668G>A	ENST00000320516.4	+	6	1196	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	CCDC65_ENST00000266984.5_Silent_p.L336L|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	336										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCAAGGCCCTGAGAAAGATTG	0.488																																						uc001rso.2		NA																	0				ovary(1)|skin(1)	2						c.(1006-1008)CTG>CTA		coiled-coil domain containing 65							49.0	48.0	48.0					12																	49312668		2203	4300	6503	SO:0001819	synonymous_variant	85478							g.chr12:49312668G>A		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.1008G>A	12.37:g.49312668G>A							p.L336L	NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN			6	1235	+			336					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Silent	SNP	ENST00000320516.4	37	c.1008G>A	CCDS8772.1																																																																																				0.488	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		10	39	0	0	0	0	10	39				
TUBA1B	10376	broad.mit.edu	37	12	49523492	49523492	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49523492G>A	ENST00000336023.5	-	2	111	c.17C>T	c.(16-18)tCc>tTc	p.S6F	RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	6					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						AACGTGGATGGAGATGCACTC	0.483																																						uc001rtm.2		NA																	0					0						c.(16-18)TCC>TTC		tubulin, alpha, ubiquitous							55.0	52.0	53.0					12																	49523492		2203	4300	6503	SO:0001583	missense	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49523492G>A	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.17C>T	12.37:g.49523492G>A	ENSP00000336799:p.Ser6Phe					TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_5'UTR|TUBA1B_uc001rtl.2_5'UTR|TUBA1B_uc001rtn.2_5'UTR	p.S6F	NM_006082	NP_006073	P68363	TBA1B_HUMAN			2	238	-			6					P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	ENST00000336023.5	37	c.17C>T	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	g	16.00	2.999017	0.54147	.	.	ENSG00000123416	ENST00000336023;ENST00000551373;ENST00000429203;ENST00000550367	T;T	0.69806	-0.43;-0.43	4.95	4.95	0.65309	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.46442	U	0.000287	D	0.83543	0.5277	M	0.85710	2.77	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.86768	0.1971	10	0.87932	D	0	.	16.9468	0.86232	0.0:0.0:1.0:0.0	.	6	P68363	TBA1B_HUMAN	F	6	ENSP00000336799:S6F;ENSP00000449325:S6F	ENSP00000336799:S6F	S	-	2	0	TUBA1B	47809759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.776000	0.99001	2.283000	0.76528	0.655000	0.94253	TCC		0.483	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		13	62	0	0	0	0	13	62				
TROAP	10024	broad.mit.edu	37	12	49719907	49719907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49719907C>T	ENST00000257909.3	+	6	758	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	TROAP_ENST00000551245.1_Nonsense_Mutation_p.Q228*|TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	228					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCCAGTTTCCAGGAGCTAAG	0.527																																						uc001rtx.3		NA																	0				ovary(1)	1						c.(682-684)CAG>TAG		tastin isoform 1							107.0	109.0	109.0					12																	49719907		2203	4300	6503	SO:0001587	stop_gained	10024				cell adhesion	cytoplasm		g.chr12:49719907C>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.682C>T	12.37:g.49719907C>T	ENSP00000257909:p.Gln228*					TROAP_uc009zlh.2_Nonsense_Mutation_p.Q228*|TROAP_uc001rty.2_5'Flank	p.Q228*	NM_005480	NP_005471	Q12815	TROAP_HUMAN			6	849	+			228					F8VSF9|Q6PJU7|Q8N5B2	Nonsense_Mutation	SNP	ENST00000257909.3	37	c.682C>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126001	0.94429	.	.	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	4.13	3.23	0.37069	.	0.767209	0.11626	N	0.545292	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-1.2712	9.3778	0.38295	0.2129:0.7871:0.0:0.0	.	.	.	.	X	228;111;228;228	.	ENSP00000257909:Q228X	Q	+	1	0	TROAP	48006174	0.999000	0.42202	0.993000	0.49108	0.914000	0.54420	0.532000	0.23067	1.326000	0.45319	0.655000	0.94253	CAG		0.527	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		31	131	0	0	0	0	31	131				
DNAJC22	79962	broad.mit.edu	37	12	49743028	49743028	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49743028G>A	ENST00000549441.2	+	3	1577	c.373G>A	c.(373-375)Ggc>Agc	p.G125S	DNAJC22_ENST00000395069.3_Missense_Mutation_p.G125S			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	125						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GGCTGCTGTTGGCAACCAGAC	0.527																																						uc001rua.2		NA																	0				ovary(1)	1						c.(373-375)GGC>AGC		DnaJ (Hsp40) homolog, subfamily C, member 22							131.0	126.0	128.0					12																	49743028		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49743028G>A	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.373G>A	12.37:g.49743028G>A	ENSP00000446830:p.Gly125Ser					DNAJC22_uc001rub.2_Missense_Mutation_p.G125S	p.G125S	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN			2	774	+			125			Helical; (Potential).		B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.373G>A	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924946	0.92319	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.67698	-0.28;-0.28	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82470	-0.0441	10	0.87932	D	0	-14.1421	17.1427	0.86758	0.0:0.0:1.0:0.0	.	125	Q8N4W6	DJC22_HUMAN	S	125	ENSP00000446830:G125S;ENSP00000378508:G125S	ENSP00000378508:G125S	G	+	1	0	DNAJC22	48029295	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	8.790000	0.91844	2.399000	0.81585	0.561000	0.74099	GGC		0.527	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		28	168	0	0	0	0	28	168				
NCKAP5L	57701	broad.mit.edu	37	12	50189930	50189931	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50189930_50189931GG>AA	ENST00000335999.6	-	8	1913_1914	c.1712_1713CC>TT	c.(1711-1713)tCC>tTT	p.S571F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	567	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GTGGCTCTGGGGAAGGCCCCCT	0.624																																						uc009zlk.2		NA																	0				central_nervous_system(1)	1						c.(1711-1713)TCC>TTT		NCK-associated protein 5-like																																				SO:0001583	missense	57701							g.chr12:50189930_50189931GG>AA	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.1712_1713delinsAA	12.37:g.50189930_50189931delinsAA	ENSP00000337998:p.Ser571Phe					NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Missense_Mutation_p.S164F	p.S571F	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			8	1914_1915	-			567			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	DNP	ENST00000335999.6	37	c.1712_1713CC>TT	CCDS41781.2																																																																																				0.624	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		10	34	0	0	0	0	10	34				
RACGAP1	29127	broad.mit.edu	37	12	50400385	50400385	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50400385G>A	ENST00000427314.2	-	5	343	c.120C>T	c.(118-120)ttC>ttT	p.F40F	RACGAP1_ENST00000454520.2_Silent_p.F40F|RACGAP1_ENST00000547905.1_Silent_p.F40F|RACGAP1_ENST00000551016.1_Silent_p.F40F|RACGAP1_ENST00000434422.1_Silent_p.F40F|RACGAP1_ENST00000312377.5_Silent_p.F40F	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ACTTTTTACGGAAATCCTCAA	0.423																																						uc001rvt.2		NA																	0				kidney(1)	1						c.(118-120)TTC>TTT		Rac GTPase activating protein 1							92.0	72.0	79.0					12																	50400385		2203	4300	6503	SO:0001819	synonymous_variant	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50400385G>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.120C>T	12.37:g.50400385G>A						RACGAP1_uc009zlm.1_Silent_p.F40F|RACGAP1_uc001rvs.2_Silent_p.F40F|RACGAP1_uc001rvu.2_Silent_p.F40F	p.F40F	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			5	430	-			40						Silent	SNP	ENST00000427314.2	37	c.120C>T	CCDS8795.1																																																																																				0.423	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		23	31	0	0	0	0	23	31				
SMARCD1	6602	broad.mit.edu	37	12	50483706	50483706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50483706C>T	ENST00000394963.4	+	7	1209	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	SMARCD1_ENST00000548573.1_Nonsense_Mutation_p.Q69*|SMARCD1_ENST00000381513.4_Nonsense_Mutation_p.Q271*	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CGATGGCTTTCAGGTGAAGCG	0.582																																						uc001rvx.3		NA																	0				ovary(1)	1						c.(811-813)CAG>TAG		SWI/SNF-related matrix-associated							191.0	167.0	175.0					12																	50483706		2203	4300	6503	SO:0001587	stop_gained	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50483706C>T	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.811C>T	12.37:g.50483706C>T	ENSP00000378414:p.Gln271*					SMARCD1_uc001rvy.3_Nonsense_Mutation_p.Q271*|SMARCD1_uc009zlp.2_Nonsense_Mutation_p.Q230*	p.Q271*	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN			7	981	+			271			Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|Interaction with SMARCC1 and SMARCC2.			Nonsense_Mutation	SNP	ENST00000394963.4	37	c.811C>T	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878754	0.91740	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000542914;ENST00000548573	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1435	19.5787	0.95455	0.0:1.0:0.0:0.0	.	.	.	.	X	271;271;230;191;47;69	.	ENSP00000370924:Q271X	Q	+	1	0	SMARCD1	48769973	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CAG		0.582	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076		13	58	0	0	0	0	13	58				
KRT7	3855	broad.mit.edu	37	12	52639266	52639267	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:52639266_52639267CC>TT	ENST00000331817.5	+	7	1238_1239	c.1055_1056CC>TT	c.(1054-1056)gCC>gTT	p.A352V	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	352	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GATGCTCGTGCCAAGCAGGAGG	0.653																																						uc001saa.1		NA																	0					0						c.(1054-1056)GCC>GTT		keratin 7																																				SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52639266_52639267CC>TT		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	Exception_encountered	12.37:g.52639266_52639267delinsTT	ENSP00000329243:p.Ala352Val					KRT7_uc009zmf.1_Intron	p.A352V	NM_005556	NP_005547	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	7	1182_1183	+			352			Rod.|Coil 2.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	DNP	ENST00000331817.5	37	c.1055_1056CC>TT	CCDS8822.1																																																																																				0.653	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		9	59	0	0	0	0	9	59				
KRT3	3850	broad.mit.edu	37	12	53187989	53187989	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:53187989G>A	ENST00000417996.2	-	2	846	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	KRT3_ENST00000309505.3_Silent_p.L258L	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	258	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TAGCTCCGCAGGTAGTTGATG	0.532																																						uc001say.2		NA																	0					0						c.(772-774)CTG>TTG		keratin 3							163.0	181.0	175.0					12																	53187989		2189	4298	6487	SO:0001819	synonymous_variant	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53187989G>A		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.772C>T	12.37:g.53187989G>A							p.L258L	NM_057088	NP_476429	P12035	K2C3_HUMAN			2	838	-			258			Rod.|Coil 1B.		A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	37	c.772C>T	CCDS44895.1																																																																																				0.532	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		25	174	0	0	0	0	25	174				
ITGB7	3695	broad.mit.edu	37	12	53589185	53589185	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:53589185C>T	ENST00000267082.5	-	9	1365	c.1134G>A	c.(1132-1134)gtG>gtA	p.V378V	ITGB7_ENST00000550743.2_Silent_p.V378V|ITGB7_ENST00000338737.4_Silent_p.V378V|ITGB7_ENST00000422257.3_Silent_p.V378V	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	378	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAGCTGTACCACGTTGCTGG	0.552																																						uc009zmv.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						c.(1132-1134)GTG>GTA		integrin, beta 7 precursor							103.0	91.0	95.0					12																	53589185		2203	4300	6503	SO:0001819	synonymous_variant	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53589185C>T		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1134G>A	12.37:g.53589185C>T						ITGB7_uc001scc.2_Silent_p.V378V|ITGB7_uc010snz.1_RNA	p.V378V	NM_000889	NP_000880	P26010	ITB7_HUMAN			8	1205	-			378			VWFA.|Extracellular (Potential).		Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	37	c.1134G>A	CCDS8849.1																																																																																				0.552	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			11	74	0	0	0	0	11	74				
GPR84	53831	broad.mit.edu	37	12	54757158	54757158	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54757158T>C	ENST00000551809.1	-	1	1113	c.478A>G	c.(478-480)Atc>Gtc	p.I160V	GPR84_ENST00000267015.3_Missense_Mutation_p.I160V|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GGTACCAGGATATAAATAGGC	0.567																																						uc001sfu.2		NA																	0				breast(2)	2						c.(478-480)ATC>GTC		G protein-coupled receptor 84							49.0	44.0	46.0					12																	54757158		2203	4300	6503	SO:0001583	missense	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54757158T>C	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.478A>G	12.37:g.54757158T>C	ENSP00000450310:p.Ile160Val						p.I160V	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN			2	568	-			160			Helical; Name=4; (Potential).		B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.478A>G	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	T	1.389	-0.581375	0.03854	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.71461	-0.57;-0.57	5.02	-4.49	0.03504	GPCR, rhodopsin-like superfamily (1);	0.550760	0.14615	N	0.308767	T	0.32941	0.0846	N	0.00465	-1.465	0.21064	N	0.999795	B	0.02656	0.0	B	0.01281	0.0	T	0.31779	-0.9931	10	0.26408	T	0.33	-8.0468	15.3932	0.74767	0.0:0.7886:0.0:0.2114	.	160	Q9NQS5	GPR84_HUMAN	V	160	ENSP00000267015:I160V;ENSP00000450310:I160V	ENSP00000267015:I160V	I	-	1	0	GPR84	53043425	0.001000	0.12720	0.060000	0.19600	0.870000	0.49936	-0.158000	0.10070	-0.597000	0.05813	0.454000	0.30748	ATC		0.567	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			3	31	0	0	0	0	3	31				
GTSF1	121355	broad.mit.edu	37	12	54857043	54857044	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54857043_54857044GG>AA	ENST00000552397.1	-	4	1051_1052	c.155_156CC>TT	c.(154-156)cCC>cTT	p.P52L	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.P52L|GTSF1_ENST00000552395.1_5'UTR			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	52						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				GAGCATTGAAGGGACAAGTAGC	0.426																																						uc001sgb.2		NA																	0					0						c.(154-156)CCC>CTT		gametocyte specific factor 1																																				SO:0001583	missense	121355						metal ion binding	g.chr12:54857043_54857044GG>AA	AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"""family with sequence similarity 112, member B"""	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.155_156delinsAA	12.37:g.54857043_54857044delinsAA	ENSP00000446485:p.Pro52Leu						p.P52L	NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN			4	241_242	-		Myeloproliferative disorder(1001;0.00452)	52					B3KQ60|Q0VGM4|Q8N778	Missense_Mutation	DNP	ENST00000552397.1	37	c.155_156CC>TT	CCDS8881.1																																																																																				0.426	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1	NM_144594		13	89	0	0	0	0	13	89				
NCKAP1L	3071	broad.mit.edu	37	12	54936457	54936457	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54936457C>T	ENST00000293373.6	+	31	3451	c.3372C>T	c.(3370-3372)ttC>ttT	p.F1124F	RP11-1049A21.2_ENST00000547942.1_RNA|NCKAP1L_ENST00000545638.2_Silent_p.F1074F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1124					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTCGGGCCTTCCACCTAAACT	0.557																																						uc001sgc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(3370-3372)TTC>TTT		NCK-associated protein 1-like							122.0	102.0	109.0					12																	54936457		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54936457C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3372C>T	12.37:g.54936457C>T						NCKAP1L_uc010sox.1_Silent_p.F666F|NCKAP1L_uc010soy.1_Silent_p.F1074F	p.F1124F	NM_005337	NP_005328	P55160	NCKPL_HUMAN			31	3451	+			1124					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.3372C>T	CCDS31813.1																																																																																				0.557	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		13	81	0	0	0	0	13	81				
PDE1B	5153	broad.mit.edu	37	12	54969816	54969816	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54969816G>T	ENST00000243052.3	+	13	1744	c.1308G>T	c.(1306-1308)ctG>ctT	p.L436L	PDE1B_ENST00000550620.1_Silent_p.L416L|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.L395L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	436	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TCTCTGTGCTGACTGACGTGG	0.542																																						uc001sgd.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1306-1308)CTG>CTT		phosphodiesterase 1B isoform 1							141.0	137.0	138.0					12																	54969816		2203	4300	6503	SO:0001819	synonymous_variant	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54969816G>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1308G>T	12.37:g.54969816G>T						PDE1B_uc010soz.1_Silent_p.L299L|PDE1B_uc010spa.1_Silent_p.L395L|PDE1B_uc001sgf.2_Silent_p.L299L|PDE1B_uc001sge.2_Silent_p.L416L|PDE1B_uc009znq.2_Silent_p.L232L	p.L436L	NM_000924	NP_000915	Q01064	PDE1B_HUMAN			13	1474	+			436			Catalytic (By similarity).		Q92825|Q96KP3	Silent	SNP	ENST00000243052.3	37	c.1308G>T	CCDS8882.1																																																																																				0.542	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			28	111	1	0	1.56e-20	1.62e-20	28	111				
OR6C6	283365	broad.mit.edu	37	12	55688295	55688295	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:55688295G>A	ENST00000358433.2	-	1	721	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	241						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)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATCATGTGGGAAGTACAGGT	0.378																																						uc010sph.1		NA																	0				large_intestine(1)|skin(1)	2						c.(721-723)TCC>TTC		olfactory receptor, family 6, subfamily C,							114.0	121.0	119.0					12																	55688295		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688295G>A		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.722C>T	12.37:g.55688295G>A	ENSP00000351211:p.Ser241Phe						p.S241F	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			1	722	-			241			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000358433.2	37	c.722C>T	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	12.31	1.900371	0.33535	.	.	ENSG00000188324	ENST00000358433	T	0.39056	1.1	4.33	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000150	T	0.70404	0.3220	H	0.95328	3.655	0.32390	N	0.553416	D	0.76494	0.999	D	0.78314	0.991	T	0.78277	-0.2266	10	0.87932	D	0	.	9.4264	0.38583	0.0811:0.1448:0.7741:0.0	.	241	A6NF89	OR6C6_HUMAN	F	241	ENSP00000351211:S241F	ENSP00000351211:S241F	S	-	2	0	OR6C6	53974562	0.888000	0.30383	0.819000	0.32651	0.328000	0.28507	4.826000	0.62715	0.583000	0.29574	-0.138000	0.14375	TCC		0.378	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			13	64	0	0	0	0	13	64				
OR6C2	341416	broad.mit.edu	37	12	55846439	55846439	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:55846439G>A	ENST00000322678.1	+	1	442	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	148					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)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTGCTGTTGGGTGGCTGGCTT	0.473																																						uc001sgz.1		NA																	0				skin(2)	2						c.(442-444)GTG>ATG		olfactory receptor, family 6, subfamily C,							181.0	143.0	156.0					12																	55846439		2203	4300	6503	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846439G>A	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.442G>A	12.37:g.55846439G>A	ENSP00000323606:p.Val148Met						p.V148M	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			1	442	+			148			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000322678.1	37	c.442G>A	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	G	8.500	0.864057	0.17250	.	.	ENSG00000179695	ENST00000322678	T	0.40476	1.03	5.42	-4.6	0.03390	GPCR, rhodopsin-like superfamily (1);	0.899644	0.09338	N	0.815858	T	0.28167	0.0695	L	0.51914	1.62	0.19300	N	0.999974	B	0.15141	0.012	B	0.24006	0.05	T	0.35968	-0.9767	10	0.31617	T	0.26	.	0.8528	0.01176	0.2792:0.3184:0.2008:0.2016	.	148	Q9NZP2	OR6C2_HUMAN	M	148	ENSP00000323606:V148M	ENSP00000323606:V148M	V	+	1	0	OR6C2	54132706	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	-2.785000	0.00770	-0.665000	0.05317	-0.165000	0.13383	GTG		0.473	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		54	92	0	0	0	0	54	92				
OR10P1	121130	broad.mit.edu	37	12	56031407	56031407	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56031407C>T	ENST00000309675.2	+	1	764	c.732C>T	c.(730-732)tcC>tcT	p.S244S	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTGCTCCTCCCATCTGCTCG	0.587																																						uc010spq.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(730-732)TCC>TCT		olfactory receptor, family 10, subfamily P,							121.0	105.0	110.0					12																	56031407		2203	4300	6503	SO:0001819	synonymous_variant	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031407C>T	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.732C>T	12.37:g.56031407C>T							p.S244S	NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN			1	732	+			244			Helical; Name=6; (Potential).		B9EGY4	Silent	SNP	ENST00000309675.2	37	c.732C>T	CCDS31828.1																																																																																				0.587	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			21	120	0	0	0	0	21	120				
METTL7B	196410	broad.mit.edu	37	12	56077597	56077598	+	Splice_Site	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56077597_56077598GG>AA	ENST00000394252.3	+	2	708_709	c.499_500GG>AA	c.(499-501)GGa>AAa	p.G167K		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	167							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						TCCCTCCCAGGGAGGTGTGCTC	0.525																																						uc010spr.1		NA																	0					0						c.(499-501)GGA>AAA		methyltransferase like 7B precursor																																				SO:0001630	splice_region_variant	196410						methyltransferase activity	g.chr12:56077597_56077598GG>AA		CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	Exception_encountered	12.37:g.56077597_56077598delinsAA							p.G167K	NM_152637	NP_689850	Q6UX53	MET7B_HUMAN			2	708_709	+			167					A8K247|Q8WUI1	Missense_Mutation	DNP	ENST00000394252.3	37	c.499_500GG>AA	CCDS8887.2																																																																																				0.525	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	NM_152637	Missense_Mutation	11	77	0	0	0	0	11	77				
BLOC1S1	2647	broad.mit.edu	37	12	56109967	56109967	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56109967C>T	ENST00000548925.1	+	1	147	c.132C>T	c.(130-132)cgC>cgT	p.R44R	BLOC1S1_ENST00000551926.1_5'Flank|BLOC1S1_ENST00000547076.1_5'Flank|BLOC1S1_ENST00000549147.1_Silent_p.R44R|BLOC1S1_ENST00000257899.2_Silent_p.R16R|RP11-644F5.10_ENST00000549424.1_5'Flank|RP11-644F5.10_ENST00000550412.1_Silent_p.R44R|BLOC1S1_ENST00000548556.1_5'Flank			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	44					aerobic respiration (GO:0009060)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|peptidyl-lysine acetylation (GO:0018394)|platelet dense granule organization (GO:0060155)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)				breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						AGAATGAACGCAAGGAGCTGC	0.622																																					Colon(112;1254 2715 13015)	uc009zny.1		NA																	0					0						c.(130-132)CGC>CGT		RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 1;          Short=BLOC-1 subunit 1; AltName: Full=GCN5-like protein 1; AltName: Full=Protein RT14;							43.0	43.0	43.0					12																	56109967		2199	4300	6499	SO:0001819	synonymous_variant	2647				cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding	g.chr12:56109967C>T	S82447	CCDS8889.1, CCDS8889.2	12q13-q14	2012-08-01	2008-08-11	2004-05-26		ENSG00000135441		"""Biogenesis of lysosomal organelles complex-1 subunits"""	4200	protein-coding gene	gene with protein product	"""GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1"", ""BLOC-1 Subunit 1"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 1"""	601444	"""GCN5 general control of amino-acid synthesis 5-like 1 (yeast)"""	GCN5L1		8646881, 15102850	Standard	NM_001487		Approved	BLOS1	uc001shi.4	P78537		ENST00000548925.1:c.132C>T	12.37:g.56109967C>T						BLOC1S1_uc001shi.2_Silent_p.R16R|BLOC1S1_uc001shj.3_Silent_p.R44R	p.R44R			P78537	BL1S1_HUMAN			1	148	+			44			Potential.		A1L4Q9|Q6NZ45	Silent	SNP	ENST00000548925.1	37	c.132C>T	CCDS8889.2																																																																																				0.622	BLOC1S1-001	KNOWN	downstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406681.1	NM_001487		4	12	0	0	0	0	4	12				
DNAJC14	85406	broad.mit.edu	37	12	56216453	56216453	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56216453A>G	ENST00000357606.3	-	6	1987	c.1698T>C	c.(1696-1698)caT>caC	p.H566H	DNAJC14_ENST00000317287.5_Silent_p.H566H|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Silent_p.H566H|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S196P			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	566					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCTCAGCAGGATGCAGCCTAT	0.458																																						uc001shx.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(1696-1698)CAT>CAC		dopamine receptor interacting protein							156.0	135.0	142.0					12																	56216453		2203	4300	6503	SO:0001819	synonymous_variant	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56216453A>G	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1698T>C	12.37:g.56216453A>G						DNAJC14_uc001shu.1_Silent_p.H566H|DNAJC14_uc009zob.1_Silent_p.H566H	p.H566H	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			5	1902	-			566					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Silent	SNP	ENST00000357606.3	37	c.1698T>C	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	A	0.157	-1.084794	0.01888	.	.	ENSG00000257390	ENST00000546837	.	.	.	5.22	2.88	0.33553	.	.	.	.	.	T	0.57592	0.2064	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50980	-0.8763	4	.	.	.	-9.6677	8.2189	0.31530	0.8352:0.0:0.1648:0.0	.	.	.	.	P	196	.	.	S	-	1	0	RP11-762I7.5	54502720	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	2.034000	0.41145	0.539000	0.28788	0.533000	0.62120	TCC		0.458	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		26	118	0	0	0	0	26	118				
ERBB3	2065	broad.mit.edu	37	12	56487254	56487254	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56487254C>T	ENST00000267101.3	+	12	1840	c.1400C>T	c.(1399-1401)tCt>tTt	p.S467F	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.S408F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	467					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACCACCACTCTTTGAACTGG	0.522																																						uc001sjh.2		NA																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(1399-1401)TCT>TTT		erbB-3 isoform 1 precursor							85.0	85.0	85.0					12																	56487254		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56487254C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1400C>T	12.37:g.56487254C>T	ENSP00000267101:p.Ser467Phe					ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.S408F|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.S35F	p.S467F	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		12	1593	+			467			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.1400C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931306	0.92389	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.42513	0.97;0.97	5.16	5.16	0.70880	EGF receptor, L domain (1);	0.098210	0.44902	D	0.000414	T	0.49830	0.1580	L	0.46819	1.47	0.80722	D	1	D;D	0.67145	0.98;0.996	P;P	0.51615	0.55;0.675	T	0.52895	-0.8514	10	0.87932	D	0	.	17.5796	0.87963	0.0:1.0:0.0:0.0	.	467;467	B4DGQ7;P21860	.;ERBB3_HUMAN	F	467;408	ENSP00000267101:S467F;ENSP00000408340:S408F	ENSP00000267101:S467F	S	+	2	0	ERBB3	54773521	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.174000	0.50847	2.676000	0.91093	0.655000	0.94253	TCT		0.522	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			37	71	0	0	0	0	37	71				
PA2G4	5036	broad.mit.edu	37	12	56504217	56504217	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56504217G>T	ENST00000303305.6	+	8	1083	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	PA2G4_ENST00000552766.1_Nonsense_Mutation_p.E222*|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	222					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGAGGTACATGAAGTATATGC	0.438																																						uc001sjm.2		NA																	0					0						c.(664-666)GAA>TAA		ErbB3-binding protein 1							86.0	82.0	84.0					12																	56504217		2203	4300	6503	SO:0001587	stop_gained	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56504217G>T	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.664G>T	12.37:g.56504217G>T	ENSP00000302886:p.Glu222*					PA2G4_uc009zol.2_Nonsense_Mutation_p.E222*|PA2G4_uc009zom.2_Nonsense_Mutation_p.E222*	p.E222*	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		8	1083	+			222					O43846|Q9UM59	Nonsense_Mutation	SNP	ENST00000303305.6	37	c.664G>T	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	G	40	8.342952	0.98769	.	.	ENSG00000170515	ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1058	0.89519	0.0:0.0:1.0:0.0	.	.	.	.	X	222;222;251;222;222	.	ENSP00000302886:E222X	E	+	1	0	PA2G4	54790484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.442000	0.97566	2.658000	0.90341	0.650000	0.86243	GAA		0.438	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		15	75	1	0	8.6e-14	8.89e-14	15	75				
NABP2	79035	broad.mit.edu	37	12	56622940	56622941	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56622940_56622941CC>TT	ENST00000380198.2	+	6	1077_1078	c.579_580CC>TT	c.(577-582)ggCCct>ggTTct	p.P194S	NABP2_ENST00000267023.4_Missense_Mutation_p.P194S|NABP2_ENST00000341463.5_Missense_Mutation_p.P194S|SLC39A5_ENST00000454355.2_5'Flank|SLC39A5_ENST00000266980.4_5'Flank			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	194	Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										GCCCGCCTGGCCCTTCCAGCAA	0.599																																						uc001ski.2		NA																	0				ovary(1)	1						c.(577-582)GGCCCT>GGTTCT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	oligonucleotide/oligosaccharide-binding fold																																				SO:0001583	missense	79035				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding	g.chr12:56622940_56622941CC>TT	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	Exception_encountered	12.37:g.56622940_56622941delinsTT	ENSP00000369545:p.Pro194Ser					OBFC2B_uc001skk.2_Missense_Mutation_p.P219S|OBFC2B_uc001skj.2_Missense_Mutation_p.P210S	p.P194S	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN			7	703_704	+			194			Pro-rich.		A6NDF8|Q6XYC8	Missense_Mutation	DNP	ENST00000380198.2	37	c.579_580CC>TT	CCDS8911.1																																																																																				0.599	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		17	86	0	0	0	0	17	86				
ANKRD52	283373	broad.mit.edu	37	12	56638205	56638205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56638205G>A	ENST00000267116.7	-	25	2858	c.2737C>T	c.(2737-2739)Cga>Tga	p.R913*	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	913										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCCTTCCCTCGATACAGCAGA	0.517																																						uc001skm.3		NA																	0				ovary(2)	2						c.(2737-2739)CGA>TGA		ankyrin repeat domain 52							78.0	74.0	75.0					12																	56638205		1961	4163	6124	SO:0001587	stop_gained	283373						protein binding	g.chr12:56638205G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2737C>T	12.37:g.56638205G>A	ENSP00000267116:p.Arg913*						p.R913*	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			25	2827	-			913			ANK 26.		A6NE79|B1Q2K2	Nonsense_Mutation	SNP	ENST00000267116.7	37	c.2737C>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	40	8.316846	0.98757	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	.	.	.	4.4	3.5	0.40072	.	0.151445	0.44483	D	0.000441	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	11.7312	0.51737	0.0:0.0:0.6828:0.3172	.	.	.	.	X	913	.	ENSP00000267116:R913X	R	-	1	2	ANKRD52	54924472	0.140000	0.22579	0.999000	0.59377	0.843000	0.47879	1.236000	0.32683	1.426000	0.47256	0.655000	0.94253	CGA		0.517	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		24	32	0	0	0	0	24	32				
BAZ2A	11176	broad.mit.edu	37	12	57003658	57003658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57003658G>A	ENST00000551812.1	-	10	2153	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.R624*|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.R652*|BAZ2A_ENST00000179765.5_Nonsense_Mutation_p.R622*	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	654					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTTCGAGGTCGACCCCGTTTG	0.527																																						uc001slq.1		NA																	0					0						c.(1960-1962)CGA>TGA		bromodomain adjacent to zinc finger domain, 2A							78.0	72.0	74.0					12																	57003658		1954	4153	6107	SO:0001587	stop_gained	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57003658G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1960C>T	12.37:g.57003658G>A	ENSP00000446880:p.Arg654*					BAZ2A_uc001slp.1_Nonsense_Mutation_p.R652*|BAZ2A_uc009zow.1_Nonsense_Mutation_p.R622*	p.R654*	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			10	2154	-			654			A.T hook 1.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Nonsense_Mutation	SNP	ENST00000551812.1	37	c.1960C>T	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	41	8.961409	0.99018	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	.	.	.	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8567	0.88765	0.0:0.0:1.0:0.0	.	.	.	.	X	624;622;654;652	.	ENSP00000179765:R622X	R	-	1	2	BAZ2A	55289925	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.590000	0.82653	2.832000	0.97577	0.655000	0.94253	CGA		0.527	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		8	28	0	0	0	0	8	28				
SDR9C7	121214	broad.mit.edu	37	12	57324258	57324258	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57324258G>A	ENST00000293502.1	-	2	455	c.312C>T	c.(310-312)gcC>gcT	p.A104A		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	104					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGTTCACCAGGGCCCAGAGGC	0.562																																						uc010sqw.1		NA																	0				central_nervous_system(1)	1						c.(310-312)GCC>GCT		short chain dehydrogenase/reductase family 9C,							50.0	47.0	48.0					12																	57324258		2203	4300	6503	SO:0001819	synonymous_variant	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57324258G>A	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.312C>T	12.37:g.57324258G>A							p.A104A	NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN			2	312	-			104					B3KVB4	Silent	SNP	ENST00000293502.1	37	c.312C>T	CCDS8926.1																																																																																				0.562	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		12	34	0	0	0	0	12	34				
LRP1	4035	broad.mit.edu	37	12	57554760	57554760	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57554760C>T	ENST00000243077.3	+	13	2530	c.2064C>T	c.(2062-2064)caC>caT	p.H688H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	688					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)	ATGGCTCACACCGAGACATCT	0.622																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(2062-2064)CAC>CAT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						155.0	127.0	137.0					12																	57554760		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:57554760C>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.2064C>T	12.37:g.57554760C>T							p.H688H	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	13	2530	+			688			LDL-receptor class B 6.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.2064C>T	CCDS8932.1																																																																																				0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		21	135	0	0	0	0	21	135				
LRP1	4035	broad.mit.edu	37	12	57569840	57569840	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57569840C>T	ENST00000243077.3	+	24	4408	c.3942C>T	c.(3940-3942)acC>acT	p.T1314T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1314					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)	TCTACTGGACCGACGTGGTGG	0.632											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(3940-3942)ACC>ACT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						131.0	97.0	108.0					12																	57569840		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:57569840C>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.3942C>T	12.37:g.57569840C>T			OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024		p.T1314T	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	24	4408	+			1314			LDL-receptor class B 8.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.3942C>T	CCDS8932.1																																																																																				0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		13	91	0	0	0	0	13	91				
MBD6	114785	broad.mit.edu	37	12	57919368	57919369	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57919368_57919369GG>AA	ENST00000355673.3	+	6	973_974	c.617_618GG>AA	c.(616-618)aGG>aAA	p.R206K	MBD6_ENST00000431731.2_Missense_Mutation_p.R206K	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	206	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TTCCTCCCAAGGGGCAATGCCC	0.644																																						uc001soj.1		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(616-618)AGG>AAA		methyl-CpG binding domain protein 6																																				SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919368_57919369GG>AA	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		Exception_encountered	12.37:g.57919368_57919369delinsAA	ENSP00000347896:p.Arg206Lys					MBD6_uc001sok.1_Missense_Mutation_p.R73K|MBD6_uc001sol.1_5'Flank	p.R206K	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			6	841_842	+			206			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	DNP	ENST00000355673.3	37	c.617_618GG>AA	CCDS8944.1																																																																																				0.644	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			28	89	0	0	0	0	28	89				
B4GALNT1	2583	broad.mit.edu	37	12	58020705	58020705	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:58020705G>A	ENST00000341156.4	-	11	2008	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.S420F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	475					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTCGGAGCAGGAGCCAACCCG	0.582																																						uc001spg.1		NA																	0					0						c.(1423-1425)TCC>TTC		beta-1,4-N-acetyl-galactosaminyl transferase 1							68.0	55.0	59.0					12																	58020705		2203	4300	6503	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58020705G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1424C>T	12.37:g.58020705G>A	ENSP00000341562:p.Ser475Phe					B4GALNT1_uc010sru.1_Missense_Mutation_p.S420F	p.S475F	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	1856	-	Melanoma(17;0.122)		475			Lumenal (Potential).		B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.1424C>T	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	25.9	4.681516	0.88542	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.27557	1.66;1.66	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.37502	-0.9703	10	0.09338	T	0.73	-17.1804	16.487	0.84187	0.0:0.0:1.0:0.0	.	420;475	B4DE26;Q00973	.;B4GN1_HUMAN	F	475;420	ENSP00000341562:S475F;ENSP00000401601:S420F	ENSP00000341562:S475F	S	-	2	0	B4GALNT1	56306972	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.056000	0.76662	2.505000	0.84491	0.467000	0.42956	TCC		0.582	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		7	27	0	0	0	0	7	27				
CTDSP2	10106	broad.mit.edu	37	12	58220853	58220853	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:58220853C>A	ENST00000398073.2	-	4	583	c.280G>T	c.(280-282)Gtg>Ttg	p.V94L	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR|MIR26A2_ENST00000385054.1_RNA	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	94					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TCCTCTGTCACCTCTGGGAGC	0.493																																						uc001sqm.2		NA																	0				central_nervous_system(1)	1						c.(280-282)GTG>TTG		nuclear LIM interactor-interacting factor 2							92.0	90.0	90.0					12																	58220853		1959	4143	6102	SO:0001583	missense	10106				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	g.chr12:58220853C>A	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.280G>T	12.37:g.58220853C>A	ENSP00000381148:p.Val94Leu					CTDSP2_uc010ssg.1_5'Flank|CTDSP2_uc009zqf.2_5'UTR|CTDSP2_uc009zqg.2_Intron|uc001sqn.2_5'Flank|MIR26A2_hsa-mir-26a-2|MI0000750_5'Flank	p.V94L	NM_005730	NP_005721	O14595	CTDS2_HUMAN			4	809	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		94					A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	c.280G>T	CCDS41801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.55|15.55	2.866023|2.866023	0.51588|0.51588	.|.	.|.	ENSG00000175215|ENSG00000175215	ENST00000550144|ENST00000398073	.|T	.|0.15139	.|2.45	4.92|4.92	4.92|4.92	0.64577|0.64577	.|HAD-like domain (2);	.|0.061993	.|0.64402	.|D	.|0.000006	T|T	0.15609|0.15609	0.0376|0.0376	L|L	0.39085|0.39085	1.19|1.19	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.05484|0.05484	-1.0882|-1.0882	5|10	.|0.21540	.|T	.|0.41	-18.7958|-18.7958	17.3988|17.3988	0.87453|0.87453	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|94	.|O14595	.|CTDS2_HUMAN	V|L	63|94	.|ENSP00000381148:V94L	.|ENSP00000381148:V94L	G|V	-|-	2|1	0|0	CTDSP2|CTDSP2	56507120|56507120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.816000|1.816000	0.38992|0.38992	2.717000|2.717000	0.92951|0.92951	0.563000|0.563000	0.77884|0.77884	GGT|GTG		0.493	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		34	70	1	0	2.2e-14	2.28e-14	34	70				
LRIG3	121227	broad.mit.edu	37	12	59270358	59270358	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:59270358G>A	ENST00000320743.3	-	16	2850	c.2564C>T	c.(2563-2565)cCt>cTt	p.P855L	LRIG3_ENST00000379141.4_Missense_Mutation_p.P795L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	855					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CAAATAACTAGGAATATCTGC	0.458			T	ROS1	NSCLC																																	uc001sqr.2		NA		Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					0				skin(3)|ovary(1)	4						c.(2563-2565)CCT>CTT		leucine-rich repeats and immunoglobulin-like							152.0	130.0	138.0					12																	59270358		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59270358G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2564C>T	12.37:g.59270358G>A	ENSP00000326759:p.Pro855Leu					LRIG3_uc009zqh.2_Missense_Mutation_p.P795L|LRIG3_uc010ssh.1_RNA	p.P855L	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		16	2810	-			855					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.2564C>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143717	0.94603	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.62232	0.09;0.04	5.56	5.56	0.83823	.	0.000000	0.36703	N	0.002442	T	0.80497	0.4634	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.963	T	0.80350	-0.1419	9	.	.	.	.	19.5359	0.95254	0.0:0.0:1.0:0.0	.	795;855	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	L	795;855	ENSP00000368436:P795L;ENSP00000326759:P855L	.	P	-	2	0	LRIG3	57556625	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	9.799000	0.99117	2.609000	0.88269	0.655000	0.94253	CCT		0.458	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		9	37	0	0	0	0	9	37				
USP15	9958	broad.mit.edu	37	12	62784990	62784991	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:62784990_62784991CC>TT	ENST00000280377.5	+	16	2072_2073	c.2014_2015CC>TT	c.(2014-2016)CCc>TTc	p.P672F	USP15_ENST00000393654.3_Missense_Mutation_p.P647F|USP15_ENST00000353364.3_Missense_Mutation_p.P643F	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	672	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAAGAACTTCCCTCAGAGAAT	0.371																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NA																	0				ovary(2)|lung(1)	3						c.(2014-2016)CCC>TTC		ubiquitin specific peptidase 15																																				SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62784990_62784991CC>TT	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	Exception_encountered	12.37:g.62784990_62784991delinsTT	ENSP00000280377:p.Pro672Phe					USP15_uc001srb.1_Missense_Mutation_p.P643F	p.P672F	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	16	2023_2024	+			672					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	DNP	ENST00000280377.5	37	c.2014_2015CC>TT	CCDS58251.1																																																																																				0.371	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		7	49	0	0	0	0	7	49				
TMEM5	10329	broad.mit.edu	37	12	64173779	64173779	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:64173779C>T	ENST00000261234.6	+	1	197	c.39C>T	c.(37-39)atC>atT	p.I13I	TMEM5_ENST00000537373.1_5'Flank|RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	13						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CGTTTCTTATCGCCCTGTACT	0.682																																						uc001srq.1		NA																	0					0						c.(37-39)ATC>ATT		transmembrane protein 5							66.0	60.0	62.0					12																	64173779		2203	4300	6503	SO:0001819	synonymous_variant	10329					integral to plasma membrane		g.chr12:64173779C>T	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.39C>T	12.37:g.64173779C>T						TMEM5_uc001srr.1_5'UTR|TMEM5_uc001srs.1_5'Flank	p.I13I	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	1	143	+		Myeloproliferative disorder(1001;0.0255)	13			Helical; Signal-anchor for type II membrane protein; (Potential).		A8K017|Q6PKD6	Silent	SNP	ENST00000261234.6	37	c.39C>T	CCDS8966.1																																																																																				0.682	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		22	25	0	0	0	0	22	25				
LEMD3	23592	broad.mit.edu	37	12	65640076	65640076	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:65640076G>T	ENST00000308330.2	+	13	2733	c.2707G>T	c.(2707-2709)Ggc>Tgc	p.G903C		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	903	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TCTTCGGACTGGCCTAACCAA	0.398																																						uc001ssl.1		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2707-2709)GGC>TGC		LEM domain containing 3							116.0	112.0	113.0					12																	65640076		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65640076G>T	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2707G>T	12.37:g.65640076G>T	ENSP00000308369:p.Gly903Cys					LEMD3_uc009zqo.1_Missense_Mutation_p.G902C	p.G903C	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	13	2713	+			903			Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.		Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.2707G>T	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310056	0.81247	.	.	ENSG00000174106	ENST00000308330	T	0.56103	0.48	5.59	5.59	0.84812	.	0.198699	0.45126	D	0.000400	T	0.64778	0.2629	L	0.36672	1.1	0.54753	D	0.999982	D	0.89917	1.0	D	0.73380	0.98	T	0.60167	-0.7316	9	.	.	.	-11.4182	19.5926	0.95522	0.0:0.0:1.0:0.0	.	903	Q9Y2U8	MAN1_HUMAN	C	903	ENSP00000308369:G903C	.	G	+	1	0	LEMD3	63926343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.397000	0.59690	2.645000	0.89757	0.551000	0.68910	GGC		0.398	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			18	100	1	0	6.94e-10	7.14e-10	18	100				
CPM	1368	broad.mit.edu	37	12	69264150	69264150	+	Missense_Mutation	SNP	C	C	T	rs200496918		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:69264150C>T	ENST00000551568.1	-	5	521	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	CPM_ENST00000338356.3_Missense_Mutation_p.R154Q|CPM_ENST00000546373.1_Missense_Mutation_p.R154Q	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	154					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GGGGAAATTTCGATTCAAGTC	0.403																																						uc001sup.2		NA																	0					0						c.(460-462)CGA>CAA		carboxypeptidase M precursor							72.0	74.0	73.0					12																	69264150		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69264150C>T	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.461G>A	12.37:g.69264150C>T	ENSP00000448517:p.Arg154Gln					CPM_uc001sur.2_Missense_Mutation_p.R154Q|CPM_uc001suq.2_Missense_Mutation_p.R154Q	p.R154Q	NM_198320	NP_938079	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		5	522	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		154					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.461G>A	CCDS8987.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802667	0.90623	.	.	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.36	5.36	0.76844	Peptidase M14, carboxypeptidase A (3);	0.043915	0.85682	D	0.000000	T	0.56171	0.1967	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.63862	-0.6541	9	.	.	.	-15.9034	19.4744	0.94982	0.0:1.0:0.0:0.0	.	154	P14384	CBPM_HUMAN	Q	154	ENSP00000448517:R154Q;ENSP00000339157:R154Q;ENSP00000447255:R154Q;ENSP00000446799:R154Q	.	R	-	2	0	CPM	67550417	1.000000	0.71417	0.998000	0.56505	0.520000	0.34377	7.614000	0.82996	2.685000	0.91497	0.650000	0.86243	CGA		0.403	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		13	91	0	0	0	0	13	91				
LRRC10	376132	broad.mit.edu	37	12	70004462	70004462	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:70004462C>T	ENST00000361484.3	-	1	480	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	53					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGACCAGCTCCCTGAAGGAG	0.582																																						uc001svc.2		NA																	0					0						c.(157-159)GAG>AAG		leucine rich repeat containing 10							60.0	52.0	55.0					12																	70004462		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004462C>T	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.157G>A	12.37:g.70004462C>T	ENSP00000355166:p.Glu53Lys						p.E53K	NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	481	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		53			LRR 1.		Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.157G>A	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188041	0.38609	.	.	ENSG00000198812	ENST00000361484	T	0.22539	1.95	5.62	4.73	0.59995	.	0.090810	0.85682	D	0.000000	T	0.14570	0.0352	N	0.04705	-0.18	0.46396	D	0.999027	B	0.27910	0.193	B	0.37015	0.239	T	0.15954	-1.0419	10	0.19147	T	0.46	.	17.1073	0.86667	0.0:0.8735:0.1265:0.0	.	53	Q5BKY1	LRC10_HUMAN	K	53	ENSP00000355166:E53K	ENSP00000355166:E53K	E	-	1	0	LRRC10	68290729	1.000000	0.71417	0.783000	0.31826	0.401000	0.30781	4.855000	0.62925	1.506000	0.48736	0.555000	0.69702	GAG		0.582	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		12	40	0	0	0	0	12	40				
PTPRB	5787	broad.mit.edu	37	12	70918333	70918333	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:70918333G>A	ENST00000261266.5	-	31	5918	c.5889C>T	c.(5887-5889)gtC>gtT	p.V1963V	PTPRB_ENST00000550857.1_Silent_p.V1873V|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549359.1_RNA|PTPRB_ENST00000334414.6_Silent_p.V2181V|PTPRB_ENST00000550358.1_Silent_p.V2093V|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000538708.1_Silent_p.V1873V|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000451516.2_Silent_p.V1873V|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1963	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGCTCTGAGGACATCTCTTA	0.428																																						uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(5887-5889)GTC>GTT		protein tyrosine phosphatase, receptor type, B							118.0	115.0	116.0					12																	70918333		1919	4136	6055	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70918333G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5889C>T	12.37:g.70918333G>A						uc001svz.2_Intron|PTPRB_uc010sto.1_Silent_p.V1873V|PTPRB_uc010stp.1_Silent_p.V1873V|PTPRB_uc001swc.3_Silent_p.V2181V|PTPRB_uc001swa.3_Silent_p.V2093V	p.V1963V	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		31	5919	-	Renal(347;0.236)		1963			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.5889C>T	CCDS44944.1																																																																																				0.428	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			6	65	0	0	0	0	6	65				
KCNC2	3747	broad.mit.edu	37	12	75601548	75601548	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:75601548G>A	ENST00000549446.1	-	2	896	c.216C>T	c.(214-216)ccC>ccT	p.P72P	KCNC2_ENST00000298972.1_Silent_p.P72P|KCNC2_ENST00000393288.2_Silent_p.P72P|KCNC2_ENST00000341669.3_Silent_p.P72P|KCNC2_ENST00000548513.1_Silent_p.P72P|KCNC2_ENST00000550433.1_Silent_p.P72P|KCNC2_ENST00000350228.2_Silent_p.P72P|KCNC2_ENST00000540018.1_Silent_p.P72P	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	72	Gly/Pro-rich (insert).				action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CGCCTGGCCCGggggacagcg	0.761																																						uc001sxg.1		NA																	0				breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(214-216)CCC>CCT		Shaw-related voltage-gated potassium channel							4.0	5.0	5.0					12																	75601548		1688	3370	5058	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601548G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.216C>T	12.37:g.75601548G>A						KCNC2_uc009zry.2_Silent_p.P72P|KCNC2_uc001sxe.2_Silent_p.P72P|KCNC2_uc001sxf.2_Silent_p.P72P|KCNC2_uc010stw.1_Silent_p.P72P	p.P72P	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			2	760	-			72			Gly/Pro-rich (insert).|Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.216C>T	CCDS9007.1																																																																																				0.761	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		2	0	0	0	0	0	2	0				
NAV3	89795	broad.mit.edu	37	12	78553043	78553043	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:78553043C>T	ENST00000397909.2	+	23	5019	c.4846C>T	c.(4846-4848)Cta>Tta	p.L1616L	NAV3_ENST00000228327.6_Silent_p.L1616L|NAV3_ENST00000266692.7_Silent_p.L1439L|NAV3_ENST00000536525.2_Silent_p.L1616L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1616						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTGCAAAGTCTAACTATGAC	0.393										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4846-4848)CTA>TTA		neuron navigator 3							116.0	107.0	110.0					12																	78553043		1854	4101	5955	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78553043C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4846C>T	12.37:g.78553043C>T		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.L1616L|NAV3_uc010sub.1_Silent_p.L1102L|NAV3_uc009zsf.2_Silent_p.L447L	p.L1616L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			23	5019	+			1616			Potential.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.4846C>T		.	.	.	.	.	.	.	.	.	.	C	9.063	0.994959	0.19043	.	.	ENSG00000067798	ENST00000552895	D	0.94280	-3.39	5.44	4.53	0.55603	.	.	.	.	.	D	0.94807	0.8323	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.94612	0.7805	6	0.87932	D	0	-7.5282	11.3995	0.49862	0.0:0.8571:0.0:0.1429	.	.	.	.	F	510	ENSP00000446644:S510F	ENSP00000446644:S510F	S	+	2	0	NAV3	77077174	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.271000	0.43364	2.707000	0.92482	0.655000	0.94253	TCT		0.393	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		6	51	0	0	0	0	6	51				
PPFIA2	8499	broad.mit.edu	37	12	81747119	81747119	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:81747119C>T	ENST00000549396.1	-	17	1934		c.e17-1		PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GAGATTTCACCTGAATGGTGA	0.373																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.e17-1		PTPRF interacting protein alpha 2							94.0	85.0	88.0					12																	81747119		1850	4103	5953	SO:0001630	splice_region_variant	8499							g.chr12:81747119C>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1774-1G>A	12.37:g.81747119C>T						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Splice_Site|PPFIA2_uc010suh.1_Splice_Site|PPFIA2_uc010sui.1_Splice_Site|PPFIA2_uc010suj.1_Splice_Site|PPFIA2_uc009zsi.1_Splice_Site|PPFIA2_uc010suf.1_Splice_Site|PPFIA2_uc009zsh.2_Splice_Site	p.V592_splice	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			17	1935	-								B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Splice_Site	SNP	ENST00000549396.1	37	c.1774_splice	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282619	0.80692	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2605	0.93966	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPFIA2	80271250	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	7.807000	0.86032	2.534000	0.85438	0.585000	0.79938	.		0.373	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		Intron	15	40	0	0	0	0	15	40				
TSPAN19	144448	broad.mit.edu	37	12	85413439	85413439	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:85413439G>A	ENST00000532498.2	-	6	496	c.416C>T	c.(415-417)aCc>aTc	p.T139I	TSPAN19_ENST00000547403.2_5'UTR	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	139						integral component of membrane (GO:0016021)				ovary(1)	1						AGTCCACTTGGTTATATCTTC	0.328																																						uc009zsj.2		NA																	0				ovary(1)	1						c.(415-417)ACC>ATC		tetraspanin 19							104.0	103.0	103.0					12																	85413439		1811	4063	5874	SO:0001583	missense	144448					integral to membrane		g.chr12:85413439G>A		CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.416C>T	12.37:g.85413439G>A	ENSP00000433816:p.Thr139Ile						p.T139I	NM_001100917	NP_001094387	P0C672	TSN19_HUMAN			6	517	-			139						Missense_Mutation	SNP	ENST00000532498.2	37	c.416C>T	CCDS44949.1	.	.	.	.	.	.	.	.	.	.	G	8.614	0.889796	0.17540	.	.	ENSG00000231738	ENST00000532498	T	0.79940	-1.32	4.05	1.03	0.20045	Tetraspanin, EC2 domain (1);	.	.	.	.	T	0.61248	0.2332	N	0.14661	0.345	0.09310	N	0.999995	B	0.22604	0.072	B	0.23419	0.046	T	0.50224	-0.8853	9	0.40728	T	0.16	.	2.8045	0.05424	0.2397:0.0:0.5356:0.2247	.	139	P0C672	TSN19_HUMAN	I	139	ENSP00000433816:T139I	ENSP00000433816:T139I	T	-	2	0	TSPAN19	83937570	0.440000	0.25618	0.177000	0.23020	0.867000	0.49689	0.358000	0.20216	0.395000	0.25257	0.650000	0.86243	ACC		0.328	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		35	133	0	0	0	0	35	133				
LRRIQ1	84125	broad.mit.edu	37	12	85515605	85515605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:85515605C>T	ENST00000393217.2	+	16	3569	c.3508C>T	c.(3508-3510)Cag>Tag	p.Q1170*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1170										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTGTCAGTCTCAGATTCGAGA	0.353																																						uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3508-3510)CAG>TAG		leucine-rich repeats and IQ motif containing 1							73.0	70.0	71.0					12																	85515605		2203	4300	6503	SO:0001587	stop_gained	84125							g.chr12:85515605C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3508C>T	12.37:g.85515605C>T	ENSP00000376910:p.Gln1170*					LRRIQ1_uc001tab.1_Nonsense_Mutation_p.Q1170*	p.Q1170*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	16	3619	+			1170					Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	c.3508C>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	40	7.921503	0.98563	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	5.44	5.44	0.79542	.	0.269471	0.31909	N	0.006867	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4479	0.87584	0.0:1.0:0.0:0.0	.	.	.	.	X	1170;1145;1170	.	ENSP00000256007:Q1170X	Q	+	1	0	LRRIQ1	84039736	0.997000	0.39634	0.993000	0.49108	0.543000	0.35085	3.776000	0.55356	2.724000	0.93272	0.579000	0.79373	CAG		0.353	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		14	52	0	0	0	0	14	52				
LRRIQ1	84125	broad.mit.edu	37	12	85518236	85518236	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:85518236G>A	ENST00000393217.2	+	17	4007	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1316										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCCATTTAAGGAAGTAGTAAT	0.323																																						uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3946-3948)GAA>AAA		leucine-rich repeats and IQ motif containing 1							156.0	176.0	169.0					12																	85518236		2202	4300	6502	SO:0001583	missense	84125							g.chr12:85518236G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3946G>A	12.37:g.85518236G>A	ENSP00000376910:p.Glu1316Lys					LRRIQ1_uc001tab.1_Missense_Mutation_p.E1316K	p.E1316K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	4057	+			1316					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.3946G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226407	0.39300	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.56275	0.47	5.33	2.5	0.30297	.	0.467452	0.19907	N	0.103391	T	0.25121	0.0610	N	0.14661	0.345	0.09310	N	1	B;P	0.39480	0.251;0.675	B;B	0.31442	0.067;0.13	T	0.21999	-1.0229	10	0.72032	D	0.01	.	1.4992	0.02473	0.2343:0.2048:0.4266:0.1343	.	1316;1291	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	1316;1291;1316	ENSP00000376910:E1316K	ENSP00000256007:E1316K	E	+	1	0	LRRIQ1	84042367	0.019000	0.18553	0.096000	0.21009	0.002000	0.02628	0.549000	0.23329	0.738000	0.32606	0.591000	0.81541	GAA		0.323	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		119	250	0	0	0	0	119	250				
CEP290	80184	broad.mit.edu	37	12	88454692	88454692	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:88454692C>T	ENST00000552810.1	-	47	6780	c.6437G>A	c.(6436-6438)aGa>aAa	p.R2146K	CEP290_ENST00000309041.7_Missense_Mutation_p.R2148K|CEP290_ENST00000397838.3_Missense_Mutation_p.R1206K|CEP290_ENST00000547691.2_Missense_Mutation_p.R1206K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2146					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCATTTTCTCTCTGGACTTT	0.299																																						uc001tar.2		NA																	0				ovary(5)|breast(1)|pancreas(1)	7						c.(6436-6438)AGA>AAA		centrosomal protein 290kDa							91.0	72.0	78.0					12																	88454692		1785	4041	5826	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88454692C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.6437G>A	12.37:g.88454692C>T	ENSP00000448012:p.Arg2146Lys					CEP290_uc001taq.2_Missense_Mutation_p.R1206K	p.R2146K	NM_025114	NP_079390	O15078	CE290_HUMAN			47	6781	-			2146			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.6437G>A	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571620	0.45798	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.63255	0.56;-0.03;-0.03;0.56	6.03	4.96	0.65561	.	0.133330	0.64402	D	0.000002	T	0.46308	0.1386	L	0.28192	0.835	0.35771	D	0.820915	B	0.10296	0.003	B	0.12156	0.007	T	0.46898	-0.9158	10	0.15066	T	0.55	.	12.5304	0.56111	0.0:0.86:0.0:0.14	.	2146	O15078	CE290_HUMAN	K	1206;2146;2148;1206	ENSP00000446905:R1206K;ENSP00000448012:R2146K;ENSP00000308021:R2148K;ENSP00000380938:R1206K	ENSP00000308021:R2148K	R	-	2	0	CEP290	86978823	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.400000	0.34577	2.861000	0.98227	0.655000	0.94253	AGA		0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		4	14	0	0	0	0	4	14				
TMTC3	160418	broad.mit.edu	37	12	88586521	88586522	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:88586521_88586522CC>TT	ENST00000266712.6	+	13	2067_2068	c.1847_1848CC>TT	c.(1846-1848)gCC>gTT	p.A616V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	616					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCAAATGAAGCCCTAAAAAACT	0.342																																						uc001tau.2		NA																	0				skin(1)	1						c.(1846-1848)GCC>GTT		transmembrane and tetratricopeptide repeat																																				SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88586521_88586522CC>TT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	Exception_encountered	12.37:g.88586521_88586522delinsTT	ENSP00000266712:p.Ala616Val						p.A616V	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			13	2067_2068	+			616			TPR 6.		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	DNP	ENST00000266712.6	37	c.1847_1848CC>TT	CCDS9032.1																																																																																				0.342	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		28	75	0	0	0	0	28	75				
KERA	11081	broad.mit.edu	37	12	91449634	91449634	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:91449634C>T	ENST00000266719.3	-	2	672	c.425G>A	c.(424-426)aGa>aAa	p.R142K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	142					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTCTAAACTTCTTGGCAATGG	0.418																																						uc001tbl.2		NA																	0				skin(1)	1						c.(424-426)AGA>AAA		keratocan precursor							114.0	110.0	111.0					12																	91449634		2203	4296	6499	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449634C>T	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.425G>A	12.37:g.91449634C>T	ENSP00000266719:p.Arg142Lys						p.R142K	NM_007035	NP_008966	O60938	KERA_HUMAN			2	1044	-			142			LRR 3.			Missense_Mutation	SNP	ENST00000266719.3	37	c.425G>A	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	C	7.876	0.729135	0.15507	.	.	ENSG00000139330	ENST00000266719	T	0.17054	2.3	6.08	6.08	0.98989	.	0.183445	0.64402	D	0.000018	T	0.06188	0.0160	N	0.04063	-0.285	0.25991	N	0.98224	B	0.17465	0.022	B	0.22152	0.038	T	0.45352	-0.9267	10	0.05833	T	0.94	-20.4156	5.6891	0.17819	0.1521:0.6447:0.1299:0.0733	.	142	O60938	KERA_HUMAN	K	142	ENSP00000266719:R142K	ENSP00000266719:R142K	R	-	2	0	KERA	89973765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.906000	0.48735	2.894000	0.99253	0.655000	0.94253	AGA		0.418	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		45	103	0	0	0	0	45	103				
C12orf74	338809	broad.mit.edu	37	12	93100531	93100531	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:93100531C>T	ENST00000397833.3	+	2	575	c.124C>T	c.(124-126)Cca>Tca	p.P42S	C12orf74_ENST00000544406.2_Missense_Mutation_p.P42S	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	42										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCGGCAAGCCCCAGGCCGCAT	0.642																																						uc001tch.1		NA																	0					0						c.(124-126)CCA>TCA		hypothetical protein LOC338809							40.0	43.0	42.0					12																	93100531		1916	4124	6040	SO:0001583	missense	338809							g.chr12:93100531C>T	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.124C>T	12.37:g.93100531C>T	ENSP00000380933:p.Pro42Ser					C12orf74_uc001tci.2_Missense_Mutation_p.P42S	p.P42S	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN			2	354	+			42					F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	37	c.124C>T	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990953	0.54041	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.98	4.07	0.47477	.	.	.	.	.	T	0.29850	0.0746	L	0.27053	0.805	0.25055	N	0.991102	P;P	0.46912	0.886;0.886	P;P	0.46275	0.51;0.51	T	0.05305	-1.0893	8	0.30854	T	0.27	.	9.5828	0.39499	0.0:0.9032:0.0:0.0968	.	42;42	F5H4P0;Q32Q52	.;CL074_HUMAN	S	42	.	ENSP00000380933:P42S	P	+	1	0	C12orf74	91624662	0.033000	0.19621	0.889000	0.34880	0.543000	0.35085	0.952000	0.29149	1.292000	0.44672	0.462000	0.41574	CCA		0.642	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		7	70	0	0	0	0	7	70				
EEA1	8411	broad.mit.edu	37	12	93285445	93285445	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:93285445G>A	ENST00000322349.8	-	2	341	c.77C>T	c.(76-78)cCt>cTt	p.P26L	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	26					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGTGTTTATAGGAGTTGCTGA	0.358																																						uc001tck.2		NA																	0				ovary(2)|skin(1)	3						c.(76-78)CCT>CTT		early endosome antigen 1, 162kD							121.0	131.0	128.0					12																	93285445		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93285445G>A	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.77C>T	12.37:g.93285445G>A	ENSP00000317955:p.Pro26Leu						p.P26L	NM_003566	NP_003557	Q15075	EEA1_HUMAN			2	342	-			26					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.77C>T	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639624	0.29157	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.68903	-0.36	5.65	4.76	0.60689	.	0.000000	0.46758	D	0.000279	T	0.56001	0.1956	L	0.36672	1.1	0.53688	D	0.999977	B	0.06786	0.001	B	0.06405	0.002	T	0.55237	-0.8172	10	0.72032	D	0.01	.	10.8388	0.46702	0.0878:0.0:0.9122:0.0	.	26	Q15075	EEA1_HUMAN	L	26;25	ENSP00000317955:P26L	ENSP00000317955:P26L	P	-	2	0	EEA1	91809576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.764000	0.55264	1.376000	0.46267	0.655000	0.94253	CCT		0.358	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		55	130	0	0	0	0	55	130				
PLXNC1	10154	broad.mit.edu	37	12	94613811	94613811	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:94613811G>A	ENST00000258526.4	+	6	1823	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	525					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACTATGGTGGGAAGCTTCTCT	0.478																																						uc001tdc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1573-1575)GGA>GAA		plexin C1 precursor							156.0	164.0	162.0					12																	94613811		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94613811G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1574G>A	12.37:g.94613811G>A	ENSP00000258526:p.Gly525Glu						p.G525E	NM_005761	NP_005752	O60486	PLXC1_HUMAN			6	1823	+			525			Extracellular (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1574G>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043063	0.36085	.	.	ENSG00000136040	ENST00000258526	T	0.06608	3.28	5.08	5.08	0.68730	.	0.790748	0.11644	N	0.543474	T	0.10380	0.0254	M	0.64997	1.995	0.80722	D	1	P	0.47409	0.895	B	0.42030	0.373	T	0.32375	-0.9909	10	0.21540	T	0.41	.	14.3583	0.66752	0.0:0.0:1.0:0.0	.	525	O60486	PLXC1_HUMAN	E	525	ENSP00000258526:G525E	ENSP00000258526:G525E	G	+	2	0	PLXNC1	93137942	0.996000	0.38824	0.284000	0.24805	0.005000	0.04900	2.944000	0.49034	2.532000	0.85374	0.650000	0.86243	GGA		0.478	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			43	210	0	0	0	0	43	210				
PLXNC1	10154	broad.mit.edu	37	12	94642126	94642126	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:94642126C>T	ENST00000258526.4	+	14	2965	c.2716C>T	c.(2716-2718)Ctt>Ttt	p.L906F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	906					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TACCACCATCCTTTGCAAAAT	0.393																																						uc001tdc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2716-2718)CTT>TTT		plexin C1 precursor							72.0	74.0	73.0					12																	94642126		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94642126C>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2716C>T	12.37:g.94642126C>T	ENSP00000258526:p.Leu906Phe						p.L906F	NM_005761	NP_005752	O60486	PLXC1_HUMAN			14	2965	+			906			Extracellular (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2716C>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	9.238	1.037445	0.19669	.	.	ENSG00000136040	ENST00000258526	T	0.07567	3.18	5.41	2.2	0.27929	Cell surface receptor IPT/TIG (1);Immunoglobulin-like fold (1);	2.818650	0.01073	N	0.004841	T	0.05364	0.0142	N	0.11201	0.11	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39941	-0.9589	10	0.10377	T	0.69	.	7.4311	0.27128	0.0:0.6069:0.0:0.3931	.	906	O60486	PLXC1_HUMAN	F	906	ENSP00000258526:L906F	ENSP00000258526:L906F	L	+	1	0	PLXNC1	93166257	1.000000	0.71417	0.984000	0.44739	0.772000	0.43724	1.696000	0.37773	0.207000	0.20607	-0.142000	0.14014	CTT		0.393	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			19	82	0	0	0	0	19	82				
ANKS1B	56899	broad.mit.edu	37	12	99223030	99223030	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:99223030C>T	ENST00000547776.2	-	19	2987	c.2988G>A	c.(2986-2988)caG>caA	p.Q996Q	ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000333732.7_Silent_p.Q2Q|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000341752.7_Silent_p.Q2Q|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000546960.1_Silent_p.Q222Q|ANKS1B_ENST00000549493.2_Silent_p.Q222Q|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.Q996Q|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000547446.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	996						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGCATCGCCCTGCATGATAA	0.468																																						uc001tge.1		NA																	0					0						c.(2986-2988)CAG>CAA		cajalin 2 isoform a							227.0	223.0	224.0					12																	99223030		1953	4151	6104	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99223030C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2988G>A	12.37:g.99223030C>T						ANKS1B_uc001tgf.1_Intron|ANKS1B_uc001tgk.2_Silent_p.Q293Q|ANKS1B_uc010svd.1_Silent_p.Q2Q|ANKS1B_uc001tgd.1_Intron|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_Silent_p.Q2Q|ANKS1B_uc001tgh.3_Silent_p.Q2Q|ANKS1B_uc001tgi.2_Silent_p.Q222Q|ANKS1B_uc009ztr.2_Intron|ANKS1B_uc001tgj.2_Intron|ANKS1B_uc009ztp.2_Silent_p.Q2Q|ANKS1B_uc010svf.1_Silent_p.Q2Q|ANKS1B_uc001tgg.3_Intron|ANKS1B_uc010svg.1_Intron|ANKS1B_uc009zts.1_Silent_p.Q222Q	p.Q996Q	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	19	3405	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	996					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.2988G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418590	0.83559	.	.	ENSG00000185046	ENST00000550778	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	T	0.75034	0.3795	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73418	-0.3989	4	.	.	.	-7.7203	19.2203	0.93793	0.0:1.0:0.0:0.0	.	.	.	.	K	268	.	.	R	-	2	0	ANKS1B	97747161	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.717000	0.68446	2.631000	0.89168	0.655000	0.94253	AGG		0.468	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		41	221	0	0	0	0	41	221				
SPIC	121599	broad.mit.edu	37	12	101873414	101873415	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:101873414_101873415CC>TT	ENST00000551346.1	+	4	311_312	c.152_153CC>TT	c.(151-153)tCC>tTT	p.S51F	SPIC_ENST00000299272.5_Missense_Mutation_p.S51F			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	51					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAAGGAAATTCCAGCTGCTATG	0.356																																						uc001tid.2		NA																	0				skin(1)	1						c.(151-153)TCC>TTT		Spi-C transcription factor (Spi-1/PU.1 related)																																				SO:0001583	missense	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101873414_101873415CC>TT	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	Exception_encountered	12.37:g.101873414_101873415delinsTT	ENSP00000448580:p.Ser51Phe					SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Missense_Mutation_p.S50F	p.S51F	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN			4	311_312	+			51						Missense_Mutation	DNP	ENST00000551346.1	37	c.152_153CC>TT	CCDS9082.1																																																																																				0.356	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		9	56	0	0	0	0	9	56				
PAH	5053	broad.mit.edu	37	12	103246621	103246621	+	Missense_Mutation	SNP	C	C	T	rs62507286|rs62514952		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:103246621C>T	ENST00000553106.1	-	7	1286	c.814G>A	c.(814-816)Gga>Aga	p.G272R	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Missense_Mutation_p.G267R	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	272					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGCTTGGATCCATGTCTGATG	0.562																																						uc001tjq.1		NA																	0				ovary(4)	4	GRCh37	CD972373|CM900177	PAH	D|M	rs62507286	c.(814-816)GGA>AGA		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						143.0	135.0	138.0					12																	103246621		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103246621C>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.814G>A	12.37:g.103246621C>T	ENSP00000448059:p.Gly272Arg						p.G272R	NM_000277	NP_000268	P00439	PH4H_HUMAN			8	1286	-			272					Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.814G>A	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394068	0.42410	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99488	-6.0;-6.0	5.73	5.73	0.89815	Aromatic amino acid hydroxylase, C-terminal (3);	0.285616	0.40908	D	0.000997	D	0.97065	0.9041	N	0.16066	0.365	0.35539	D	0.802929	B	0.18013	0.025	B	0.17098	0.017	D	0.97392	0.9990	10	0.25106	T	0.35	-16.7264	13.371	0.60713	0.2753:0.7247:0.0:0.0	.	272	P00439	PH4H_HUMAN	R	272;267	ENSP00000448059:G272R;ENSP00000303500:G267R	ENSP00000303500:G267R	G	-	1	0	PAH	101770751	0.023000	0.18921	0.995000	0.50966	0.944000	0.59088	0.369000	0.20416	2.708000	0.92522	0.563000	0.77884	GGA		0.562	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			51	87	0	0	0	0	51	87				
TXNRD1	7296	broad.mit.edu	37	12	104645324	104645324	+	Silent	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:104645324T>A	ENST00000525566.1	+	2	135	c.111T>A	c.(109-111)ggT>ggA	p.G37G	TXNRD1_ENST00000526006.1_3'UTR|TXNRD1_ENST00000429002.2_Silent_p.G37G	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	37					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	ATCACCCTGGTAAAACTTTGC	0.433																																					Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1		NA																	0					0						c.(109-111)GGT>GGA		thioredoxin reductase 1 isoform 3							45.0	48.0	47.0					12																	104645324		2059	4230	6289	SO:0001819	synonymous_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104645324T>A		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.111T>A	12.37:g.104645324T>A						TXNRD1_uc001tkm.1_Silent_p.G40G	p.G37G	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			2	133	+			37					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	ENST00000525566.1	37	c.111T>A	CCDS53820.1																																																																																				0.433	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389960.1	NM_003330		10	31	0	0	0	0	10	31				
POLR3B	55703	broad.mit.edu	37	12	106826181	106826181	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:106826181A>G	ENST00000228347.4	+	15	1772	c.1550A>G	c.(1549-1551)aAc>aGc	p.N517S	POLR3B_ENST00000539066.1_Missense_Mutation_p.N459S	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	517					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTAGCCAGTAACTTGGGAGTA	0.368																																						uc001tlp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1549-1551)AAC>AGC		DNA-directed RNA polymerase III B isoform 1							227.0	215.0	219.0					12																	106826181		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106826181A>G	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1550A>G	12.37:g.106826181A>G	ENSP00000228347:p.Asn517Ser					POLR3B_uc001tlq.2_Missense_Mutation_p.N459S	p.N517S	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			15	1772	+			517					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1550A>G	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.410971	0.25465	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.75704	-0.96;-0.96	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	N	0.19112	0.55	0.80722	D	1	B	0.16396	0.017	B	0.12837	0.008	T	0.56637	-0.7946	10	0.22706	T	0.39	-29.7817	16.4069	0.83677	1.0:0.0:0.0:0.0	.	517	Q9NW08	RPC2_HUMAN	S	517;517;459	ENSP00000228347:N517S;ENSP00000445721:N459S	ENSP00000228347:N517S	N	+	2	0	POLR3B	105350311	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	8.923000	0.92808	2.272000	0.75746	0.460000	0.39030	AAC		0.368	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		68	105	0	0	0	0	68	105				
ASCL4	121549	broad.mit.edu	37	12	108169094	108169094	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:108169094G>A	ENST00000342331.4	+	1	933	c.102G>A	c.(100-102)agG>agA	p.R34R		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	33					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						TCCCGCGGAGGGACCCCCTCA	0.731																																					GBM(170;776 3695 11650)	uc001tmr.2		NA																	0				central_nervous_system(1)	1						c.(100-102)AGG>AGA		achaete-scute complex-like 4							22.0	27.0	26.0					12																	108169094		2191	4288	6479	SO:0001819	synonymous_variant	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169094G>A	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.102G>A	12.37:g.108169094G>A							p.R34R	NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN			1	933	+			33					Q7RTS2	Silent	SNP	ENST00000342331.4	37	c.102G>A	CCDS31894.2																																																																																				0.731	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		8	51	0	0	0	0	8	51				
WSCD2	9671	broad.mit.edu	37	12	108589835	108589835	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:108589835T>A	ENST00000332082.4	+	3	1044	c.226T>A	c.(226-228)Ttc>Atc	p.F76I	WSCD2_ENST00000549903.1_Missense_Mutation_p.F76I|WSCD2_ENST00000547525.1_Missense_Mutation_p.F76I|WSCD2_ENST00000261400.3_Missense_Mutation_p.F76I			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	76						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGGCAGAGGTTTCCGGGACAC	0.622																																						uc001tms.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(226-228)TTC>ATC		WSC domain containing 2							143.0	144.0	144.0					12																	108589835		2067	4218	6285	SO:0001583	missense	9671					integral to membrane		g.chr12:108589835T>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.226T>A	12.37:g.108589835T>A	ENSP00000331933:p.Phe76Ile					WSCD2_uc001tmt.2_Missense_Mutation_p.F76I	p.F76I	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			2	970	+			76					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.226T>A	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.976250	0.53720	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.29917	1.56;1.55;1.56;1.55	5.74	4.59	0.56863	.	0.443603	0.26231	N	0.025578	T	0.28699	0.0711	M	0.64997	1.995	0.54753	D	0.999984	P	0.35575	0.51	B	0.32211	0.142	T	0.03514	-1.1029	10	0.30078	T	0.28	-19.2681	10.8119	0.46551	0.0:0.0741:0.0:0.9259	.	76	Q2TBF2	WSCD2_HUMAN	I	76	ENSP00000448047:F76I;ENSP00000261400:F76I;ENSP00000331933:F76I;ENSP00000447272:F76I	ENSP00000261400:F76I	F	+	1	0	WSCD2	107113965	1.000000	0.71417	0.996000	0.52242	0.665000	0.39181	4.359000	0.59449	0.993000	0.38866	0.533000	0.62120	TTC		0.622	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		37	179	0	0	0	0	37	179				
SSH1	54434	broad.mit.edu	37	12	109182304	109182304	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:109182304G>A	ENST00000326495.5	-	15	2703	c.2610C>T	c.(2608-2610)ccC>ccT	p.P870P	SSH1_ENST00000360239.3_Silent_p.P558P	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	870					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCATAACCAGGGGGCCCAGCT	0.667																																						uc001tnm.2		NA																	0				ovary(4)	4						c.(2608-2610)CCC>CCT		slingshot 1 isoform 1							21.0	26.0	25.0					12																	109182304		2201	4299	6500	SO:0001819	synonymous_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109182304G>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2610C>T	12.37:g.109182304G>A						SSH1_uc001tnl.2_Silent_p.P558P	p.P870P	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			15	2697	-			870					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.2610C>T	CCDS9121.1																																																																																				0.667	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		5	37	0	0	0	0	5	37				
DAO	1610	broad.mit.edu	37	12	109290808	109290808	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:109290808C>T	ENST00000228476.3	+	8	843	c.639C>T	c.(637-639)ttC>ttT	p.F213F	DAO_ENST00000551281.1_Silent_p.F147F	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	213					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	TGAAGCACTTCATTCTCACCC	0.547																																						uc001tnr.3		NA																	0				ovary(1)|skin(1)	2						c.(637-639)TTC>TTT		D-amino-acid oxidase							152.0	120.0	131.0					12																	109290808		2203	4300	6503	SO:0001819	synonymous_variant	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109290808C>T	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.639C>T	12.37:g.109290808C>T						DAO_uc001tnq.3_Silent_p.F147F|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_Intron	p.F213F	NM_001917	NP_001908	P14920	OXDA_HUMAN			8	792	+			213					B2R7I5|Q16758|Q8N6R2	Silent	SNP	ENST00000228476.3	37	c.639C>T	CCDS9122.1																																																																																				0.547	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			20	88	0	0	0	0	20	88				
USP30	84749	broad.mit.edu	37	12	109522852	109522852	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:109522852C>T	ENST00000257548.5	+	12	1356	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	USP30_ENST00000392784.2_Silent_p.F390F	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	421	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CGATGCCCTTCCCTCTCCCAG	0.502																																						uc010sxi.1		NA																	0				lung(1)	1						c.(1261-1263)TTC>TTT		ubiquitin specific peptidase 30							187.0	203.0	197.0					12																	109522852		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109522852C>T	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1263C>T	12.37:g.109522852C>T						USP30_uc001tnu.3_Silent_p.F390F|USP30_uc001tnw.3_Silent_p.F138F	p.F421F	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN			12	1367	+			421			Cytoplasmic (Potential).		Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.1263C>T	CCDS9123.2																																																																																				0.502	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		71	350	0	0	0	0	71	350				
C12orf76	400073	broad.mit.edu	37	12	110495088	110495088	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:110495088C>T	ENST00000309050.5	-	4	569	c.205G>A	c.(205-207)Gag>Aag	p.E69K	C12orf76_ENST00000548936.1_Intron|C12orf76_ENST00000548191.1_Intron	NM_207435.1	NP_997318.1	Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	69										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						AAGTTCCTCTCCCCCTTACAG	0.512																																						uc001tqd.1		NA																	0				large_intestine(1)	1						c.(205-207)GAG>AAG		hypothetical protein LOC400073							113.0	80.0	91.0					12																	110495088		2203	4300	6503	SO:0001583	missense	400073							g.chr12:110495088C>T	BC041968	CCDS9141.1	12q24.11	2012-08-16			ENSG00000174456	ENSG00000174456			33790	protein-coding gene	gene with protein product							Standard	NM_207435		Approved	FLJ40142	uc001tqe.2	Q8N812	OTTHUMG00000169315	ENST00000309050.5:c.205G>A	12.37:g.110495088C>T	ENSP00000308368:p.Glu69Lys					C12orf76_uc001tqe.1_RNA|C12orf76_uc010sxx.1_RNA|uc001tqf.1_Intron	p.E69K	NM_207435	NP_997318	Q8N812	CL076_HUMAN			4	570	-			69						Missense_Mutation	SNP	ENST00000309050.5	37	c.205G>A	CCDS9141.1	.	.	.	.	.	.	.	.	.	.	C	0.181	-1.062367	0.01950	.	.	ENSG00000174456	ENST00000309050	.	.	.	1.91	-3.82	0.04281	.	.	.	.	.	T	0.16557	0.0398	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.12116	-1.0560	8	0.87932	D	0	.	1.2716	0.02022	0.1366:0.3226:0.2681:0.2727	.	69	Q8N812	CL076_HUMAN	K	69	.	ENSP00000308368:E69K	E	-	1	0	C12orf76	108979471	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.632000	0.05489	-3.107000	0.00243	-2.178000	0.00318	GAG		0.512	C12orf76-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403439.2	NM_207435		4	35	0	0	0	0	4	35				
CUX2	23316	broad.mit.edu	37	12	111776107	111776107	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:111776107G>A	ENST00000261726.6	+	20	3368	c.3214G>A	c.(3214-3216)Gaa>Aaa	p.E1072K	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1072					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGTTTGGGGAAAGCATCCT	0.622																																						uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(3214-3216)GAA>AAA		cut-like 2							47.0	53.0	51.0					12																	111776107		1947	4151	6098	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111776107G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3214G>A	12.37:g.111776107G>A	ENSP00000261726:p.Glu1072Lys						p.E1072K	NM_015267	NP_056082	O14529	CUX2_HUMAN			20	3367	+			1072			CUT 3.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3214G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825290	0.90955	.	.	ENSG00000111249	ENST00000261726	T	0.55760	0.5	5.32	5.32	0.75619	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.65657	0.2712	L	0.47716	1.5	0.80722	D	1	P	0.41498	0.752	P	0.55923	0.787	T	0.67233	-0.5722	10	0.87932	D	0	-30.0823	19.0362	0.92980	0.0:0.0:1.0:0.0	.	1072	O14529	CUX2_HUMAN	K	1072	ENSP00000261726:E1072K	ENSP00000261726:E1072K	E	+	1	0	CUX2	110260490	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.813000	0.99286	2.495000	0.84180	0.655000	0.94253	GAA		0.622	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		9	68	0	0	0	0	9	68				
CUX2	23316	broad.mit.edu	37	12	111785402	111785402	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:111785402G>A	ENST00000261726.6	+	22	3888	c.3734G>A	c.(3733-3735)gGa>gAa	p.G1245E		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1245					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGGGTCCTGGAATCCTACCG	0.652																																						uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(3733-3735)GGA>GAA		cut-like 2							54.0	64.0	61.0					12																	111785402		1896	4113	6009	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785402G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3734G>A	12.37:g.111785402G>A	ENSP00000261726:p.Gly1245Glu						p.G1245E	NM_015267	NP_056082	O14529	CUX2_HUMAN			22	3887	+			1245					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3734G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097019	0.37048	.	.	ENSG00000111249	ENST00000261726	T	0.49432	0.78	5.78	4.88	0.63580	.	0.349965	0.26959	N	0.021627	T	0.35189	0.0923	N	0.24115	0.695	0.09310	N	1	P	0.50066	0.931	B	0.41571	0.36	T	0.19257	-1.0311	10	0.49607	T	0.09	-14.5807	13.0669	0.59038	0.0788:0.0:0.9212:0.0	.	1245	O14529	CUX2_HUMAN	E	1245	ENSP00000261726:G1245E	ENSP00000261726:G1245E	G	+	2	0	CUX2	110269785	0.988000	0.35896	0.076000	0.20297	0.774000	0.43823	3.478000	0.53158	1.414000	0.47017	0.650000	0.86243	GGA		0.652	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		12	92	0	0	0	0	12	92				
ATXN2	6311	broad.mit.edu	37	12	111951193	111951193	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:111951193G>A	ENST00000377617.3	-	11	2167	c.2006C>T	c.(2005-2007)tCg>tTg	p.S669L	ATXN2_ENST00000542287.2_Missense_Mutation_p.S404L|ATXN2_ENST00000535949.1_Missense_Mutation_p.S380L|ATXN2_ENST00000608853.1_Missense_Mutation_p.S509L|ATXN2_ENST00000389153.4_Missense_Mutation_p.S404L|ATXN2_ENST00000550104.1_Missense_Mutation_p.S669L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	669	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTCCCCCCGAGGGACTGGT	0.512																																						uc001tsj.2		NA																	0				ovary(1)|breast(1)	2						c.(2005-2007)TCG>TTG		ataxin 2							109.0	94.0	99.0					12																	111951193		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111951193G>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2006C>T	12.37:g.111951193G>A	ENSP00000366843:p.Ser669Leu					ATXN2_uc001tsh.2_Missense_Mutation_p.S404L|ATXN2_uc001tsi.2_Missense_Mutation_p.S380L|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.S404L	p.S669L	NM_002973	NP_002964	Q99700	ATX2_HUMAN			11	2168	-			669			Pro-rich.		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.2006C>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132798	0.77662	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000492467;ENST00000550236	T;T	0.72051	-0.49;-0.62	5.34	5.34	0.76211	.	0.101452	0.64402	D	0.000001	T	0.56352	0.1979	N	0.24115	0.695	0.58432	D	0.999999	B;B;D;B	0.53619	0.342;0.269;0.961;0.447	B;B;B;B	0.36845	0.045;0.025;0.234;0.094	T	0.60063	-0.7336	10	0.33940	T	0.23	-5.2151	19.3922	0.94587	0.0:0.0:1.0:0.0	.	404;669;380;404	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	L	404;669;669;404;380;59;84	ENSP00000366843:S669L;ENSP00000446576:S669L	ENSP00000366843:S669L	S	-	2	0	ATXN2	110435576	1.000000	0.71417	0.765000	0.31456	0.999000	0.98932	9.296000	0.96104	2.650000	0.89964	0.650000	0.86243	TCG		0.512	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		37	49	0	0	0	0	37	49				
ACAD10	80724	broad.mit.edu	37	12	112182645	112182646	+	Missense_Mutation	DNP	CC	CC	TT	rs369803395		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:112182645_112182646CC>TT	ENST00000313698.4	+	13	2068_2069	c.1913_1914CC>TT	c.(1912-1914)tCC>tTT	p.S638F	ACAD10_ENST00000549590.1_Missense_Mutation_p.S638F|ACAD10_ENST00000392636.2_Missense_Mutation_p.S240F|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.S669F	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	638						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGTTATAGCTCCGTTCCAGAAG	0.564																																						uc001tsq.2		NA																	0				ovary(2)	2						c.(1912-1914)TCC>TTT		acyl-Coenzyme A dehydrogenase family, member 10																																				SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182645_112182646CC>TT	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	Exception_encountered	12.37:g.112182645_112182646delinsTT	ENSP00000325137:p.Ser638Phe					ACAD10_uc001tsp.2_Missense_Mutation_p.S638F|ACAD10_uc009zvx.2_Missense_Mutation_p.S669F|ACAD10_uc001tss.1_RNA	p.S638F	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			13	2113_2114	+			638					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	DNP	ENST00000313698.4	37	c.1913_1914CC>TT	CCDS31903.1																																																																																				0.564	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		15	64	0	0	0	0	15	64				
MED13L	23389	broad.mit.edu	37	12	116434339	116434339	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:116434339G>A	ENST00000281928.3	-	16	3144	c.2938C>T	c.(2938-2940)Cct>Tct	p.P980S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	980						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCAATTTTAGGAGGAATTGCC	0.458																																						uc001tvw.2		NA																	0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(2938-2940)CCT>TCT		mediator complex subunit 13-like							78.0	73.0	75.0					12																	116434339		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116434339G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2938C>T	12.37:g.116434339G>A	ENSP00000281928:p.Pro980Ser						p.P980S	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	16	2993	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		980					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.2938C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649761	0.67358	.	.	ENSG00000123066	ENST00000281928	T	0.73469	-0.75	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.82949	0.5148	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.77568	-0.2539	10	0.19590	T	0.45	.	19.774	0.96385	0.0:0.0:1.0:0.0	.	980	Q71F56	MD13L_HUMAN	S	980	ENSP00000281928:P980S	ENSP00000281928:P980S	P	-	1	0	MED13L	114918722	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.919000	0.70005	2.679000	0.91253	0.591000	0.81541	CCT		0.458	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			15	64	0	0	0	0	15	64				
SRRM4	84530	broad.mit.edu	37	12	119588916	119588916	+	Missense_Mutation	SNP	C	C	T	rs369698646		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:119588916C>T	ENST00000267260.4	+	10	1559	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	391	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGGGTGTTCCCGCAGCTCCTC	0.592																																						uc001txa.1		NA																	0				ovary(2)	2						c.(1171-1173)CGC>TGC		KIAA1853 protein							82.0	88.0	86.0					12																	119588916		1983	4171	6154	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119588916C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1171C>T	12.37:g.119588916C>T	ENSP00000267260:p.Arg391Cys						p.R391C	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			10	1463	+			391			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1171C>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605928	0.87157	.	.	ENSG00000139767	ENST00000267260	T	0.27890	1.64	5.73	5.73	0.89815	.	0.134965	0.49916	D	0.000123	T	0.46386	0.1390	L	0.43152	1.355	0.52501	D	0.999956	D	0.89917	1.0	P	0.62014	0.897	T	0.08764	-1.0706	9	.	.	.	-11.136	18.4403	0.90664	0.0:1.0:0.0:0.0	.	391	A7MD48	SRRM4_HUMAN	C	391	ENSP00000267260:R391C	.	R	+	1	0	SRRM4	118073299	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.107000	0.50329	2.861000	0.98227	0.655000	0.94253	CGC		0.592	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		5	48	0	0	0	0	5	48				
CCDC60	160777	broad.mit.edu	37	12	119866561	119866561	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:119866561G>A	ENST00000327554.2	+	2	629	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	CCDC60_ENST00000536742.1_Missense_Mutation_p.R55Q|RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.R55Q	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	55										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCTTATACGAAGCCGGTGA	0.478																																						uc001txe.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(163-165)CGA>CAA		coiled-coil domain containing 60							63.0	55.0	58.0					12																	119866561		2203	4299	6502	SO:0001583	missense	160777							g.chr12:119866561G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.164G>A	12.37:g.119866561G>A	ENSP00000333374:p.Arg55Gln					uc001txf.2_Intron	p.R55Q	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	2	629	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		55						Missense_Mutation	SNP	ENST00000327554.2	37	c.164G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474767	0.63737	.	.	ENSG00000183273	ENST00000536742;ENST00000327554;ENST00000539847	T;T;T	0.64803	0.19;1.9;-0.12	4.54	4.54	0.55810	.	0.145780	0.31061	N	0.008324	T	0.71195	0.3311	L	0.47716	1.5	0.30098	N	0.807698	D	0.89917	1.0	D	0.81914	0.995	T	0.66810	-0.5829	9	.	.	.	-10.5494	13.0949	0.59187	0.0:0.0:1.0:0.0	.	55	Q8IWA6	CCD60_HUMAN	Q	55	ENSP00000445505:R55Q;ENSP00000333374:R55Q;ENSP00000443403:R55Q	.	R	+	2	0	CCDC60	118350944	0.908000	0.30866	0.959000	0.39883	0.943000	0.58893	3.769000	0.55303	2.814000	0.96858	0.655000	0.94253	CGA		0.478	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		4	12	0	0	0	0	4	12				
HNF1A	6927	broad.mit.edu	37	12	121416883	121416883	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:121416883G>A	ENST00000257555.6	+	1	538	c.312G>A	c.(310-312)gtG>gtA	p.V104V	HNF1A_ENST00000541395.1_Silent_p.V104V|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000544413.1_Silent_p.V104V|HNF1A_ENST00000543427.1_5'UTR|HNF1A_ENST00000402929.1_Silent_p.V104V|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Silent_p.V104V|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A-AS1_ENST00000537361.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	104					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAGCCGTGGTGGAGACCCTTC	0.642									Hepatic Adenoma, Familial Clustering of																													uc001tzg.2		NA																	0				liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116						c.(310-312)GTG>GTA		hepatic nuclear factor-1-alpha							25.0	32.0	29.0					12																	121416883		2196	4276	6472	SO:0001819	synonymous_variant	6927	Hepatic_Adenoma_Familial_Clustering_of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121416883G>A	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.312G>A	12.37:g.121416883G>A						HNF1A_uc001tze.1_Silent_p.V104V|HNF1A_uc001tzf.2_Silent_p.V104V|HNF1A_uc010szn.1_Silent_p.V104V	p.V104V	NM_000545	NP_000536	P20823	HNF1A_HUMAN			1	335	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		104					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	c.312G>A	CCDS9209.1																																																																																				0.642	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		5	14	0	0	0	0	5	14				
RSRC2	65117	broad.mit.edu	37	12	123001925	123001925	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123001925C>T	ENST00000331738.7	-	5	596	c.451G>A	c.(451-453)Gag>Aag	p.E151K	RSRC2_ENST00000354654.2_Missense_Mutation_p.E103K	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	151	Ser-rich.						poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTCTTCCGCTCCCTACTCCTG	0.463																																						uc001ucr.2		NA																	0				ovary(1)	1						c.(451-453)GAG>AAG		arginine/serine-rich coiled-coil 2 isoform a							157.0	134.0	142.0					12																	123001925		2203	4300	6503	SO:0001583	missense	65117							g.chr12:123001925C>T	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.451G>A	12.37:g.123001925C>T	ENSP00000330188:p.Glu151Lys					RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.E92K|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.E103K|RSRC2_uc001ucu.2_Missense_Mutation_p.E151K	p.E151K	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	5	597	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		151			Ser-rich.		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.451G>A	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101534	0.76983	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T;T;T	0.21543	2.0;2.0;2.0	5.28	5.28	0.74379	.	0.432330	0.21782	N	0.069182	T	0.28764	0.0713	N	0.14661	0.345	0.34224	D	0.675802	D;P;D;P	0.56035	0.974;0.593;0.974;0.593	D;P;D;P	0.67725	0.953;0.828;0.953;0.828	T	0.19289	-1.0310	10	0.15499	T	0.54	.	19.2769	0.94034	0.0:1.0:0.0:0.0	.	151;103;151;92	F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.;.;RSRC2_HUMAN;.	K	151;103;151;92	ENSP00000330188:E151K;ENSP00000346678:E103K;ENSP00000343315:E92K	ENSP00000330188:E151K	E	-	1	0	RSRC2	121567878	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.821000	0.55700	2.636000	0.89361	0.655000	0.94253	GAG		0.463	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		23	79	0	0	0	0	23	79				
HIP1R	9026	broad.mit.edu	37	12	123343423	123343423	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123343423C>T	ENST00000253083.4	+	21	2214	c.2089C>T	c.(2089-2091)Cac>Tac	p.H697Y		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	697					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCGCTTCTCCCACCTGGCTGC	0.657																																						uc001udj.1		NA																	0				ovary(1)	1						c.(2089-2091)CAC>TAC		huntingtin interacting protein-1-related							49.0	55.0	53.0					12																	123343423		2203	4300	6503	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123343423C>T	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2089C>T	12.37:g.123343423C>T	ENSP00000253083:p.His697Tyr					HIP1R_uc001udk.1_5'UTR	p.H697Y	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	21	2148	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		697					A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.2089C>T	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516697	0.64634	.	.	ENSG00000130787	ENST00000253083	T	0.15139	2.45	5.15	4.26	0.50523	.	0.044538	0.85682	N	0.000000	T	0.19248	0.0462	L	0.52905	1.665	0.58432	D	0.999999	B	0.17852	0.024	B	0.20577	0.03	T	0.02288	-1.1182	10	0.41790	T	0.15	-28.6714	13.756	0.62937	0.0:0.9255:0.0:0.0745	.	697	O75146	HIP1R_HUMAN	Y	697	ENSP00000253083:H697Y	ENSP00000253083:H697Y	H	+	1	0	HIP1R	121909376	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.038000	0.70964	1.169000	0.42739	0.561000	0.74099	CAC		0.657	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		16	70	0	0	0	0	16	70				
VPS37B	79720	broad.mit.edu	37	12	123351949	123351949	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123351949T>G	ENST00000267202.2	-	4	953	c.572A>C	c.(571-573)tAc>tCc	p.Y191S	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	191	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)		p.Y191S(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TGGGGCAGGGTAGGGAAGGGG	0.706																																						uc001udl.2		NA																	2	Substitution - Missense(2)		central_nervous_system(1)|skin(1)		0						c.(571-573)TAC>TCC		vacuolar protein sorting 37B																																				SO:0001583	missense	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123351949T>G	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.572A>C	12.37:g.123351949T>G	ENSP00000267202:p.Tyr191Ser						p.Y191S	NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	4	675	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		191			Pro-rich.			Missense_Mutation	SNP	ENST00000267202.2	37	c.572A>C	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.853426	0.32791	.	.	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.58210	0.36;0.35	5.03	3.89	0.44902	.	0.628472	0.17365	N	0.176868	T	0.50377	0.1612	M	0.73598	2.24	0.43512	D	0.995779	B	0.18461	0.028	B	0.16289	0.015	T	0.41016	-0.9532	10	0.29301	T	0.29	-5.0922	9.6845	0.40089	0.0:0.0824:0.0:0.9176	.	191	Q9H9H4	VP37B_HUMAN	S	191;189	ENSP00000267202:Y191S;ENSP00000446075:Y189S	ENSP00000267202:Y191S	Y	-	2	0	VPS37B	121917902	1.000000	0.71417	0.990000	0.47175	0.125000	0.20455	2.647000	0.46639	0.758000	0.33059	0.533000	0.62120	TAC		0.706	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		8	46	0	0	0	0	8	46				
MPHOSPH9	10198	broad.mit.edu	37	12	123687373	123687373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123687373G>A	ENST00000606320.1	-	10	1785	c.1579C>T	c.(1579-1581)Caa>Taa	p.Q527*	MPHOSPH9_ENST00000541076.2_Nonsense_Mutation_p.Q497*|MPHOSPH9_ENST00000392425.3_Nonsense_Mutation_p.Q375*|MPHOSPH9_ENST00000302349.5_Nonsense_Mutation_p.Q375*			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	527						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTTTCGTTTTGGAATGTCTGA	0.403																																						uc001uel.2		NA																	0					0						c.(1123-1125)CAA>TAA		M-phase phosphoprotein 9							152.0	153.0	153.0					12																	123687373		2203	4300	6503	SO:0001587	stop_gained	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687373G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1579C>T	12.37:g.123687373G>A	ENSP00000475489:p.Gln527*					MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	p.Q375*	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	6	1230	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		375					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Nonsense_Mutation	SNP	ENST00000606320.1	37	c.1123C>T		.	.	.	.	.	.	.	.	.	.	G	18.96	3.733003	0.69189	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	.	.	.	5.97	5.97	0.96955	.	0.618664	0.16912	N	0.194472	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-1.7854	20.4301	0.99081	0.0:0.0:1.0:0.0	.	.	.	.	X	375	.	ENSP00000303597:Q375X	Q	-	1	0	MPHOSPH9	122253326	1.000000	0.71417	0.957000	0.39632	0.435000	0.31806	5.058000	0.64300	2.834000	0.97654	0.557000	0.71058	CAA		0.403	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			22	134	0	0	0	0	22	134				
SBNO1	55206	broad.mit.edu	37	12	123812357	123812357	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123812357C>A	ENST00000602398.1	-	12	1562	c.1435G>T	c.(1435-1437)Gct>Tct	p.A479S	SBNO1_ENST00000267176.4_Missense_Mutation_p.A478S|SBNO1_ENST00000420886.2_Missense_Mutation_p.A479S|SBNO1_ENST00000602750.1_Missense_Mutation_p.A478S			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	479					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GGTTCAGAAGCACCTGAAAAT	0.343																																						uc010tap.1		NA																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(1435-1437)GCT>TCT		sno, strawberry notch homolog 1							59.0	60.0	60.0					12																	123812357		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123812357C>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1435G>T	12.37:g.123812357C>A	ENSP00000473665:p.Ala479Ser					SBNO1_uc010tao.1_Missense_Mutation_p.A478S|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.A479S|SBNO1_uc001ueu.2_Missense_Mutation_p.A478S|SBNO1_uc001uev.2_Missense_Mutation_p.A477S|SBNO1_uc009zxy.1_Missense_Mutation_p.A444S	p.A479S	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	11	1435	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		479					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.1435G>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.015908	0.93404	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	D;D	0.93604	-3.25;-3.25	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	M	0.90252	3.1	0.80722	D	1	P;P;D	0.67145	0.939;0.855;0.996	D;P;D	0.77557	0.951;0.848;0.99	D	0.97458	1.0032	10	0.72032	D	0.01	-32.263	20.5596	0.99324	0.0:1.0:0.0:0.0	.	479;478;477	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	S	479;478;478	ENSP00000387361:A479S;ENSP00000267176:A478S	ENSP00000267176:A478S	A	-	1	0	SBNO1	122378310	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.868000	0.98415	0.555000	0.69702	GCT		0.343	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		13	79	1	0	0.00010058	0.000101982	13	79				
DNAH10	196385	broad.mit.edu	37	12	124272466	124272466	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124272466C>T	ENST00000409039.3	+	10	1379	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	452	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGGGAAGATCGGTGGGAGTT	0.577																																						uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1354-1356)CGG>TGG		dynein, axonemal, heavy chain 10							54.0	46.0	48.0					12																	124272466		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124272466C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1354C>T	12.37:g.124272466C>T	ENSP00000386770:p.Arg452Trp					DNAH10_uc010tav.1_5'Flank|DNAH10_uc010taw.1_5'Flank	p.R452W	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	10	1379	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		452			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.1354C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643906	0.67244	.	.	ENSG00000197653	ENST00000409039	T	0.56275	0.47	5.55	4.64	0.57946	Dynein heavy chain, domain-1 (1);	0.000000	0.64402	D	0.000013	T	0.74627	0.3741	M	0.90650	3.135	0.42726	D	0.993693	D	0.89917	1.0	D	0.83275	0.996	T	0.78386	-0.2224	10	0.72032	D	0.01	.	9.186	0.37172	0.145:0.7798:0.0:0.0752	.	452	Q8IVF4	DYH10_HUMAN	W	452	ENSP00000386770:R452W	ENSP00000386770:R452W	R	+	1	2	DNAH10	122838419	0.980000	0.34600	0.063000	0.19743	0.505000	0.33919	2.564000	0.45931	1.292000	0.44672	0.561000	0.74099	CGG		0.577	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			13	25	0	0	0	0	13	25				
CCDC92	80212	broad.mit.edu	37	12	124421792	124421792	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124421792G>A	ENST00000238156.3	-	5	1163	c.809C>T	c.(808-810)tCc>tTc	p.S270F	DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000545135.1_Missense_Mutation_p.S253F|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.S253F	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	270						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GCTTCGGTCGGAGGCGATGGG	0.692																																						uc001ufw.1		NA																	0					0						c.(808-810)TCC>TTC		coiled-coil domain containing 92							22.0	27.0	25.0					12																	124421792		2198	4296	6494	SO:0001583	missense	80212							g.chr12:124421792G>A	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.809C>T	12.37:g.124421792G>A	ENSP00000238156:p.Ser270Phe					CCDC92_uc001ufv.1_Missense_Mutation_p.S253F|CCDC92_uc001ufx.1_Missense_Mutation_p.S270F|CCDC92_uc001ufy.1_Missense_Mutation_p.S253F	p.S270F	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	5	956	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		270					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.809C>T	CCDS9256.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983317	0.74474	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.30981	1.51;1.53;1.53	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43669	-0.9377	10	0.54805	T	0.06	-4.1098	18.9243	0.92538	0.0:0.0:1.0:0.0	.	270	Q53HC0	CCD92_HUMAN	F	270;253;253	ENSP00000238156:S270F;ENSP00000439526:S253F;ENSP00000440024:S253F	ENSP00000238156:S270F	S	-	2	0	CCDC92	122987745	1.000000	0.71417	0.952000	0.39060	0.148000	0.21650	7.379000	0.79691	2.474000	0.83562	0.505000	0.49811	TCC		0.692	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		7	52	0	0	0	0	7	52				
ZNF664	144348	broad.mit.edu	37	12	124497004	124497004	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124497004C>T	ENST00000539644.1	+	6	2143	c.313C>T	c.(313-315)Cat>Tat	p.H105Y	ZNF664_ENST00000392404.3_Missense_Mutation_p.H105Y|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.H105Y|ZNF664_ENST00000538932.2_Missense_Mutation_p.H105Y			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TCTTCAAATTCATATGAGAGT	0.408																																						uc001ufz.2		NA																	0					0						c.(313-315)CAT>TAT		zinc finger protein 664							70.0	81.0	77.0					12																	124497004		2202	4300	6502	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497004C>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.313C>T	12.37:g.124497004C>T	ENSP00000441405:p.His105Tyr					ZNF664_uc001uga.2_Missense_Mutation_p.H105Y|ZNF664_uc001ugb.2_Missense_Mutation_p.H105Y	p.H105Y	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2143	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		105			C2H2-type 4.		B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.313C>T	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893686	0.72639	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000716	D	0.94463	0.8218	M	0.91663	3.23	0.38371	D	0.944861	D	0.89917	1.0	D	0.91635	0.999	D	0.96088	0.9059	10	0.87932	D	0	-25.7597	14.9673	0.71204	0.0:1.0:0.0:0.0	.	105	Q8N3J9	ZN664_HUMAN	Y	105;105;105;105;43	ENSP00000441405:H105Y;ENSP00000376205:H105Y;ENSP00000440645:H105Y;ENSP00000337320:H105Y	ENSP00000337320:H105Y	H	+	1	0	ZNF664	123062957	1.000000	0.71417	0.993000	0.49108	0.919000	0.55068	7.564000	0.82326	2.651000	0.90000	0.655000	0.94253	CAT		0.408	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		39	57	0	0	0	0	39	57				
NCOR2	9612	broad.mit.edu	37	12	124819764	124819764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124819764G>A	ENST00000405201.1	-	40	6328	c.6328C>T	c.(6328-6330)Cag>Tag	p.Q2110*	NCOR2_ENST00000397355.1_Nonsense_Mutation_p.Q2101*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.Q2100*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.Q1671*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.Q2100*|NCOR2_ENST00000356219.3_Nonsense_Mutation_p.Q2117*			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2121					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GACGAGGGCTGGCTCTCAGGC	0.687																																						uc010tay.1		NA																	0				skin(3)|ovary(1)	4						c.(6358-6360)CAG>TAG		nuclear receptor co-repressor 2 isoform 1							19.0	25.0	23.0					12																	124819764		2033	4168	6201	SO:0001587	stop_gained	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124819764G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6328C>T	12.37:g.124819764G>A	ENSP00000384018:p.Gln2110*					NCOR2_uc010taz.1_Nonsense_Mutation_p.Q2104*|NCOR2_uc010tax.1_Nonsense_Mutation_p.Q231*	p.Q2120*	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	42	6514	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2121					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Nonsense_Mutation	SNP	ENST00000405201.1	37	c.6358C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	47	13.108512	0.99720	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	.	.	.	4.17	4.17	0.49024	.	0.430301	0.22696	N	0.056746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-24.4809	16.0716	0.80940	0.0:0.0:1.0:0.0	.	.	.	.	X	2110;2100;2117;2101;2109;1671;202;2100	.	ENSP00000348551:Q2117X	Q	-	1	0	NCOR2	123385717	1.000000	0.71417	0.988000	0.46212	0.185000	0.23345	8.615000	0.90920	1.857000	0.53885	0.505000	0.49811	CAG		0.687	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		11	16	0	0	0	0	11	16				
DHX37	57647	broad.mit.edu	37	12	125460001	125460001	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:125460001G>A	ENST00000308736.2	-	6	1042	c.944C>T	c.(943-945)tCc>tTc	p.S315F	DHX37_ENST00000544745.1_Missense_Mutation_p.S102F	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	315	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CACTCGCTGGGACATGGCCAC	0.647																																						uc001ugy.2		NA																	0				skin(1)	1						c.(943-945)TCC>TTC		DEAH (Asp-Glu-Ala-His) box polypeptide 37							78.0	65.0	69.0					12																	125460001		2203	4298	6501	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125460001G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.944C>T	12.37:g.125460001G>A	ENSP00000311135:p.Ser315Phe						p.S315F	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	6	1043	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		315			Helicase ATP-binding.		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.944C>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930038	0.92389	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.09630	2.96;2.96	5.3	5.3	0.74995	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58994	-0.7537	10	0.87932	D	0	-9.1136	16.7186	0.85404	0.0:0.0:1.0:0.0	.	315	Q8IY37	DHX37_HUMAN	F	315;102	ENSP00000311135:S315F;ENSP00000439009:S102F	ENSP00000311135:S315F	S	-	2	0	DHX37	124025954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.723000	0.74742	2.484000	0.83849	0.579000	0.79373	TCC		0.647	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		25	55	0	0	0	0	25	55				
TMEM132B	114795	broad.mit.edu	37	12	125834437	125834438	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:125834437_125834438CC>TT	ENST00000299308.3	+	2	500_501	c.492_493CC>TT	c.(490-495)ttCCct>ttTTct	p.P165S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	165						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)		TGTTTGCTTTCCCTGAGGCCAG	0.584																																						uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(490-495)TTCCCT>TTTTCT		transmembrane protein 132B																																				SO:0001583	missense	114795					integral to membrane		g.chr12:125834437_125834438CC>TT	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		Exception_encountered	12.37:g.125834437_125834438delinsTT	ENSP00000299308:p.Pro165Ser						p.P165S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	500_501	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		165			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	DNP	ENST00000299308.3	37	c.492_493CC>TT	CCDS41859.1																																																																																				0.584	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		32	129	0	0	0	0	32	129				
TMEM132B	114795	broad.mit.edu	37	12	126138849	126138849	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:126138849G>A	ENST00000299308.3	+	9	2838	c.2830G>A	c.(2830-2832)Gac>Aac	p.D944N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D456N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	944						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)		CCATTCCCACGACTGGGTCTG	0.517																																						uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2830-2832)GAC>AAC		transmembrane protein 132B							93.0	93.0	93.0					12																	126138849		1983	4161	6144	SO:0001583	missense	114795					integral to membrane		g.chr12:126138849G>A	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.2830G>A	12.37:g.126138849G>A	ENSP00000299308:p.Asp944Asn					TMEM132B_uc001uhf.1_Missense_Mutation_p.D456N	p.D944N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2838	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		944			Cytoplasmic (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2830G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392498	0.83011	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.12984	3.38;2.63	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	T	0.30103	0.0754	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00708	-1.1600	10	0.36615	T	0.2	.	19.4949	0.95069	0.0:0.0:1.0:0.0	.	944	Q14DG7	T132B_HUMAN	N	944;456	ENSP00000299308:D944N;ENSP00000440436:D456N	ENSP00000299308:D944N	D	+	1	0	TMEM132B	124704802	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.576000	0.98192	2.601000	0.87937	0.655000	0.94253	GAC		0.517	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		17	101	0	0	0	0	17	101				
TMEM132D	121256	broad.mit.edu	37	12	129559115	129559115	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:129559115C>T	ENST00000422113.2	-	9	2931	c.2605G>A	c.(2605-2607)Gaa>Aaa	p.E869K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E407K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	869					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAAAGGCTTTCCTGGCCTTTC	0.557																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2605-2607)GAA>AAA		transmembrane protein 132D precursor							87.0	87.0	87.0					12																	129559115		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559115C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2605G>A	12.37:g.129559115C>T	ENSP00000408581:p.Glu869Lys					TMEM132D_uc001uia.2_Missense_Mutation_p.E407K	p.E869K	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2933	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	869			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2605G>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	0.060	-1.226556	0.01518	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.09073	3.02;3.84	4.2	4.2	0.49525	.	2.993530	0.01464	N	0.015996	T	0.15739	0.0379	L	0.55481	1.735	0.09310	N	1	P;B	0.35272	0.493;0.019	B;B	0.35470	0.203;0.012	T	0.51317	-0.8721	9	.	.	.	-0.902	16.8845	0.86072	0.0:1.0:0.0:0.0	.	869;407	Q14C87;Q14C87-2	T132D_HUMAN;.	K	407;869	ENSP00000374092:E407K;ENSP00000408581:E869K	.	E	-	1	0	TMEM132D	128125068	0.271000	0.24162	0.039000	0.18376	0.031000	0.12232	2.969000	0.49232	2.033000	0.60031	0.462000	0.41574	GAA		0.557	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	49	0	0	0	0	13	49				
TMEM132D	121256	broad.mit.edu	37	12	129559604	129559604	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:129559604C>T	ENST00000422113.2	-	9	2442	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	TMEM132D_ENST00000389441.4_Splice_Site_p.E244K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	706					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGGCTGCTTCCTATGGAGAA	0.443																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2116-2118)GAA>AAA		transmembrane protein 132D precursor							32.0	30.0	31.0					12																	129559604		2203	4293	6496	SO:0001630	splice_region_variant	121256					integral to membrane		g.chr12:129559604C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2116-1G>A	12.37:g.129559604C>T						TMEM132D_uc001uia.2_Missense_Mutation_p.E244K	p.E706K	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2444	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	706			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2116G>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010385	0.75046	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.25414	1.8;1.8	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.70029	-0.4984	9	.	.	.	-29.3419	17.4049	0.87470	0.0:1.0:0.0:0.0	.	706;244	Q14C87;Q14C87-2	T132D_HUMAN;.	K	244;706	ENSP00000374092:E244K;ENSP00000408581:E706K	.	E	-	1	0	TMEM132D	128125557	1.000000	0.71417	0.998000	0.56505	0.263000	0.26337	7.539000	0.82063	2.161000	0.67846	0.563000	0.77884	GAA		0.443	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	Missense_Mutation	4	36	0	0	0	0	4	36				
FZD10	11211	broad.mit.edu	37	12	130648775	130648775	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:130648775G>A	ENST00000229030.4	+	1	1772	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S	FZD10_ENST00000539839.1_Missense_Mutation_p.G397E|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	430					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GATGAAGACGGGCGGCGAGAA	0.607																																						uc001uii.2		NA																	0				lung(3)|breast(1)|central_nervous_system(1)	5						c.(1288-1290)GGC>AGC		frizzled 10 precursor							155.0	148.0	150.0					12																	130648775		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648775G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1288G>A	12.37:g.130648775G>A	ENSP00000229030:p.Gly430Ser					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.G430S	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1744	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		430			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000229030.4	37	c.1288G>A	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.39|14.39	2.521777|2.521777	0.44866|0.44866	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000539839|ENST00000229030	.|T	.|0.43294	.|0.95	5.1|5.1	5.1|5.1	0.69264|0.69264	.|GPCR, family 2-like (1);	0.069048|0.069048	0.56097|0.56097	U|U	0.000024|0.000024	T|T	0.57359|0.57359	0.2048|0.2048	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.50156	.|0.932	.|P	.|0.54431	.|0.752	T|T	0.61724|0.61724	-0.7004|-0.7004	7|10	0.87932|0.72032	D|D	0|0.01	.|.	18.5027|18.5027	0.90888|0.90888	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|430	.|Q9ULW2	.|FZD10_HUMAN	E|S	397|430	.|ENSP00000229030:G430S	ENSP00000438460:G397E|ENSP00000229030:G430S	G|G	+|+	2|1	0|0	FZD10|FZD10	129214728|129214728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	9.638000|9.638000	0.98445|0.98445	2.360000|2.360000	0.80028|0.80028	0.561000|0.561000	0.74099|0.74099	GGG|GGC		0.607	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	60	0	0	0	0	13	60				
CHFR	55743	broad.mit.edu	37	12	133423717	133423717	+	Splice_Site	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:133423717C>A	ENST00000432561.2	-	15	1757		c.e15-1		CHFR_ENST00000450056.2_Splice_Site|CHFR_ENST00000443047.2_Splice_Site|CHFR_ENST00000541341.1_Splice_Site|CHFR_ENST00000266880.7_Splice_Site|CHFR_ENST00000537522.1_Splice_Site|CHFR_ENST00000541837.2_Splice_Site|CHFR_ENST00000315585.7_Splice_Site			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase						mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCAGGTAATTCTGTGACGCAA	0.443																																						uc001ulf.2		NA																	0				skin(1)	1						c.e15-1		checkpoint with forkhead and ring finger domains							75.0	79.0	77.0					12																	133423717		2203	4300	6503	SO:0001630	splice_region_variant	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133423717C>A	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1684-1G>T	12.37:g.133423717C>A						CHFR_uc001ulc.1_Splice_Site|CHFR_uc001ule.2_Splice_Site_p.N550_splice|CHFR_uc010tbs.1_Splice_Site_p.N561_splice|CHFR_uc001uld.2_Splice_Site_p.N521_splice|CHFR_uc010tbt.1_Splice_Site_p.N470_splice	p.N562_splice	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	15	1768	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)						A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Splice_Site	SNP	ENST00000432561.2	37	c.1684_splice	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497189	0.64186	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000432561	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6892	0.95991	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHFR	131933790	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	6.798000	0.75155	2.662000	0.90505	0.561000	0.74099	.		0.443	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2		Intron	8	38	1	0	3.1e-07	3.17e-07	8	38				
TPTE2	93492	broad.mit.edu	37	13	20067628	20067628	+	Missense_Mutation	SNP	C	C	T	rs140148307		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:20067628C>T	ENST00000400230.2	-	2	69	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	TPTE2_ENST00000382978.1_Missense_Mutation_p.E9K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E9K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E9K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E9K|TPTE2_ENST00000255310.6_Missense_Mutation_p.E9K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E9K|TPTE2_ENST00000382977.4_Missense_Mutation_p.E9K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	9					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTTAAATTCGTTTGTCTGT	0.358																																						uc001umd.2		NA																	0					0						c.(25-27)GAA>AAA		TPTE and PTEN homologous inositol lipid		C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	110.0	104.0	106.0		25,25,25	-1.6	0.0	13	dbSNP_134	106	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	56,56,56	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign	9/412,9/446,9/523	20067628	3,13003	2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20067628C>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.25G>A	13.37:g.20067628C>T	ENSP00000383089:p.Glu9Lys					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.E9K|TPTE2_uc001ume.2_Missense_Mutation_p.E9K|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.E9K	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	3	236	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	9					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.25G>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	C	6.261	0.416211	0.11870	0.0	3.49E-4	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.97089	-3.91;-4.24;-3.56;-3.76;-3.76;-3.56;-3.91;-4.24	0.788	-1.58	0.08479	.	.	.	.	.	D	0.94850	0.8336	L	0.36672	1.1	0.09310	N	1	D;D;P	0.71674	0.976;0.998;0.725	P;P;B	0.56563	0.651;0.801;0.058	D	0.87903	0.2692	8	.	.	.	.	2.4632	0.04547	0.0:0.4146:0.3151:0.2704	.	9;9;9	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	K	9	ENSP00000372438:E9K;ENSP00000382974:E9K;ENSP00000383089:E9K;ENSP00000255310:E9K;ENSP00000375098:E9K;ENSP00000372437:E9K;ENSP00000372435:E9K;ENSP00000442218:E9K	.	E	-	1	0	TPTE2	18965628	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.379000	0.20585	-1.009000	0.03400	-0.481000	0.04817	GAA		0.358	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		30	112	0	0	0	0	30	112				
IFT88	8100	broad.mit.edu	37	13	21205187	21205187	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:21205187G>A	ENST00000319980.6	+	18	1686	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K	IFT88_ENST00000537103.1_Silent_p.K425K|IFT88_ENST00000382778.4_Silent_p.K453K|IFT88_ENST00000351808.5_Silent_p.K444K|IFT88_ENST00000461115.1_3'UTR	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	453					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGGAAAAAAAGGACAGTAGAG	0.353																																						uc001unh.2		NA																	0				ovary(1)	1						c.(1357-1359)AAG>AAA		intraflagellar transport 88 homolog isoform 1							117.0	118.0	118.0					13																	21205187		2203	4300	6503	SO:0001819	synonymous_variant	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21205187G>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1359G>A	13.37:g.21205187G>A						IFT88_uc001uni.2_Silent_p.K444K|IFT88_uc001unj.2_Silent_p.K443K|IFT88_uc010tcq.1_Silent_p.K424K|IFT88_uc001unk.2_Silent_p.K199K|IFT88_uc001unl.1_Silent_p.K71K	p.K453K	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	18	1755	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	453			TPR 5.		A2A491|B4DUS2|Q5SZJ6|Q8N719	Silent	SNP	ENST00000319980.6	37	c.1359G>A	CCDS31944.1																																																																																				0.353	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		23	95	0	0	0	0	23	95				
LATS2	26524	broad.mit.edu	37	13	21563351	21563351	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:21563351G>A	ENST00000382592.4	-	4	973	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	LATS2_ENST00000542899.1_Missense_Mutation_p.P190S|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCCTCGTAGGGGGTACCGCTC	0.677																																						uc009zzs.2		NA																	0				lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10						c.(568-570)CCC>TCC		LATS, large tumor suppressor, homolog 2							80.0	68.0	72.0					13																	21563351		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21563351G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.568C>T	13.37:g.21563351G>A	ENSP00000372035:p.Pro190Ser					LATS2_uc001unr.3_Missense_Mutation_p.P190S	p.P190S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	933	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	190						Missense_Mutation	SNP	ENST00000382592.4	37	c.568C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633889	0.03584	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.22539	1.95;1.95	5.09	2.35	0.29111	.	0.590596	0.16294	N	0.220755	T	0.06735	0.0172	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.38929	-0.9638	10	0.10636	T	0.68	.	3.4706	0.07566	0.1338:0.5707:0.1395:0.156	.	190	Q9NRM7	LATS2_HUMAN	S	190	ENSP00000372035:P190S;ENSP00000441817:P190S	ENSP00000372035:P190S	P	-	1	0	LATS2	20461351	0.006000	0.16342	0.068000	0.19968	0.014000	0.08584	0.249000	0.18216	0.149000	0.19098	-0.494000	0.04653	CCC		0.677	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			8	64	0	0	0	0	8	64				
SACS	26278	broad.mit.edu	37	13	23907553	23907553	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:23907553G>A	ENST00000382292.3	-	9	10735	c.10462C>T	c.(10462-10464)Ctc>Ttc	p.L3488F	SACS_ENST00000402364.1_Missense_Mutation_p.L2738F|SACS_ENST00000382298.3_Missense_Mutation_p.L3488F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3488					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCATAAGAGAGATTTTCAATT	0.308																																						uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(10462-10464)CTC>TTC		sacsin							52.0	53.0	52.0					13																	23907553		2200	4295	6495	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23907553G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10462C>T	13.37:g.23907553G>A	ENSP00000371729:p.Leu3488Phe					SACS_uc001uoo.2_Missense_Mutation_p.L3341F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.L3488F	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	11051	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3488					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.10462C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963880	0.34659	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.92397	-2.84;-3.03;-2.84	6.04	6.04	0.98038	.	0.066692	0.64402	D	0.000009	D	0.85750	0.5769	N	0.17082	0.46	0.33092	D	0.538046	B	0.17465	0.022	B	0.17433	0.018	D	0.85017	0.0909	10	0.54805	T	0.06	.	13.7331	0.62802	0.0698:0.0:0.9302:0.0	.	3488	Q9NZJ4	SACS_HUMAN	F	3488;2738;3488	ENSP00000371729:L3488F;ENSP00000385844:L2738F;ENSP00000371735:L3488F	ENSP00000371729:L3488F	L	-	1	0	SACS	22805553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.319000	0.51983	2.873000	0.98535	0.561000	0.74099	CTC		0.308	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		6	31	0	0	0	0	6	31				
SACS	26278	broad.mit.edu	37	13	23913425	23913425	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:23913425G>A	ENST00000382292.3	-	9	4863	c.4590C>T	c.(4588-4590)ttC>ttT	p.F1530F	SACS_ENST00000402364.1_Silent_p.F780F|SACS_ENST00000382298.3_Silent_p.F1530F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1530					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGAATCTGAGAATTGAGAAT	0.373																																						uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4588-4590)TTC>TTT		sacsin							59.0	57.0	57.0					13																	23913425		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913425G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4590C>T	13.37:g.23913425G>A						SACS_uc001uoo.2_Silent_p.F1383F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.F1530F	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5179	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1530					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.4590C>T	CCDS9300.2																																																																																				0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		10	30	0	0	0	0	10	30				
SACS	26278	broad.mit.edu	37	13	23930133	23930133	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:23930133G>A	ENST00000382292.3	-	7	891	c.618C>T	c.(616-618)atC>atT	p.I206I	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Silent_p.I206I|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	206					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACCACTAAAGATACAAGGAA	0.333																																						uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(616-618)ATC>ATT		sacsin							39.0	38.0	38.0					13																	23930133		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23930133G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.618C>T	13.37:g.23930133G>A						SACS_uc001uoo.2_Silent_p.I59I|SACS_uc001uop.1_5'UTR|SACS_uc001uoq.1_Silent_p.I59I	p.I206I	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1207	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	206					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.618C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	8.037	0.762950	0.15914	.	.	ENSG00000151835	ENST00000455470	.	.	.	5.94	4.22	0.49857	.	.	.	.	.	T	0.54431	0.1858	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50233	-0.8852	4	.	.	.	.	5.3104	0.15828	0.2752:0.0:0.5911:0.1337	.	.	.	.	F	106	.	.	L	-	1	0	SACS	22828133	0.993000	0.37304	0.998000	0.56505	0.998000	0.95712	0.264000	0.18497	0.858000	0.35431	0.650000	0.86243	CTT		0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		5	19	0	0	0	0	5	19				
C1QTNF9B	387911	broad.mit.edu	37	13	24466110	24466110	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:24466110C>T	ENST00000382140.2	-	5	380	c.320G>A	c.(319-321)gGg>gAg	p.G107E	C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.G107E|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|MIPEP_ENST00000382172.3_5'Flank|MIPEP_ENST00000469167.1_5'Flank			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	107	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCCCATGGGCCCTGCAAGCCC	0.577																																						uc010tcw.1		NA																	0					0						c.(319-321)GGG>GAG		C1q and tumor necrosis factor related protein 9B							64.0	81.0	75.0					13																	24466110		2201	4298	6499	SO:0001583	missense	387911					collagen		g.chr13:24466110C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.320G>A	13.37:g.24466110C>T	ENSP00000371575:p.Gly107Glu					MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_3'UTR|PCOTH_uc009zzx.2_3'UTR|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Missense_Mutation_p.G107E	p.G107E	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN			3	320	-			107			Collagen-like 2.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.320G>A	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	19.06	3.754238	0.69648	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.99619	-6.28;-6.28	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.99813	0.9918	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96491	0.9364	10	0.87932	D	0	.	16.7528	0.85490	0.0:1.0:0.0:0.0	.	107	B2RNN3	C1T9B_HUMAN	E	107	ENSP00000371572:G107E;ENSP00000371575:G107E	ENSP00000371572:G107E	G	-	2	0	C1QTNF9B	23364110	1.000000	0.71417	0.053000	0.19242	0.738000	0.42128	7.354000	0.79424	1.950000	0.56595	0.456000	0.33151	GGG		0.577	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		19	73	0	0	0	0	19	73				
C1QTNF9	338872	broad.mit.edu	37	13	24895224	24895224	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:24895224G>A	ENST00000382071.2	+	4	405	c.320G>A	c.(319-321)gGg>gAg	p.G107E	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G107E			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	107	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGGCTTGCAGGGCCCATGGGA	0.582																																						uc001upj.2		NA																	0					0						c.(319-321)GGG>GAG		C1q and tumor necrosis factor related protein 9							30.0	17.0	21.0					13																	24895224		2117	4001	6118	SO:0001583	missense	338872					collagen	hormone activity	g.chr13:24895224G>A	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.320G>A	13.37:g.24895224G>A	ENSP00000371503:p.Gly107Glu					C1QTNF9_uc001upe.2_RNA	p.G107E	NM_178540	NP_848635	P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	4	381	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	107			Collagen-like 2.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	c.320G>A	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	N	14.59	2.580582	0.46006	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.99619	-6.28;-6.28	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96661	0.9489	9	.	.	.	.	15.8084	0.78534	0.0:0.0:1.0:0.0	.	107	P0C862	C1T9A_HUMAN	E	107	ENSP00000371503:G107E;ENSP00000333737:G107E	.	G	+	2	0	C1QTNF9	23793224	1.000000	0.71417	0.045000	0.18777	0.013000	0.08279	9.124000	0.94394	2.250000	0.74265	0.536000	0.68110	GGG		0.582	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		4	26	0	0	0	0	4	26				
ATP12A	479	broad.mit.edu	37	13	25272805	25272805	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:25272805C>T	ENST00000381946.3	+	12	1689	c.1522C>T	c.(1522-1524)Cac>Tac	p.H508Y	ATP12A_ENST00000218548.6_Missense_Mutation_p.H514Y			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	508					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GCTCTCCATCCACGAGATGGA	0.512																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(1522-1524)CAC>TAC		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						56.0	50.0	52.0					13																	25272805		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25272805C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1522C>T	13.37:g.25272805C>T	ENSP00000371372:p.His508Tyr					ATP12A_uc010aaa.2_Missense_Mutation_p.H514Y	p.H508Y	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	12	1709	+		Lung SC(185;0.0225)|Breast(139;0.077)	508			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1522C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685151	0.47991	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.79749	-1.3;-1.3	5.87	5.03	0.67393	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	M	0.69358	2.11	0.80722	D	1	P;D	0.89917	0.951;1.0	B;D	0.91635	0.374;0.999	D	0.88620	0.3162	10	0.66056	D	0.02	.	12.7854	0.57502	0.0:0.9211:0.0:0.0789	.	514;508	P54707-2;P54707	.;AT12A_HUMAN	Y	514;508	ENSP00000218548:H514Y;ENSP00000371372:H508Y	ENSP00000218548:H514Y	H	+	1	0	ATP12A	24170805	1.000000	0.71417	0.021000	0.16686	0.016000	0.09150	7.726000	0.84824	1.494000	0.48533	0.655000	0.94253	CAC		0.512	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		12	30	0	0	0	0	12	30				
ATP8A2	51761	broad.mit.edu	37	13	26411409	26411409	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:26411409G>A	ENST00000381655.2	+	29	3005	c.2863G>A	c.(2863-2865)Ggc>Agc	p.G955S	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.G890S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	915					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GAATGGCGAAGGCTTCAACAC	0.493																																						uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2863-2865)GGC>AGC		ATPase, aminophospholipid transporter-like,							104.0	98.0	100.0					13																	26411409		1955	4144	6099	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26411409G>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2863G>A	13.37:g.26411409G>A	ENSP00000371070:p.Gly955Ser					ATP8A2_uc010tdi.1_Missense_Mutation_p.G890S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.G505S	p.G955S	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	29	3005	+		Breast(139;0.0201)|Lung SC(185;0.0225)	915			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2863G>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221232	0.58560	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.70045	-0.45;-0.45	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	N	0.13327	0.33	0.80722	D	1	B;B;B	0.20988	0.029;0.05;0.029	B;B;B	0.18561	0.01;0.022;0.01	T	0.44283	-0.9338	10	0.28530	T	0.3	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	890;735;915	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	S	955;890;735	ENSP00000371070:G955S;ENSP00000255283:G890S	ENSP00000255283:G890S	G	+	1	0	ATP8A2	25309409	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	GGC		0.493	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		19	69	0	0	0	0	19	69				
WASF3	10810	broad.mit.edu	37	13	27256961	27256961	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:27256961C>T	ENST00000335327.5	+	9	1379	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	WASF3_ENST00000361042.4_Missense_Mutation_p.P398S	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	401	Poly-Pro.				actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCGGGCCCACCACCTCCCCC	0.706																																						uc001uqv.2		NA																	0				pancreas(1)	1						c.(1201-1203)CCA>TCA		WAS protein family, member 3							22.0	30.0	27.0					13																	27256961		2201	4291	6492	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27256961C>T	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1201C>T	13.37:g.27256961C>T	ENSP00000335055:p.Pro401Ser					WASF3_uc001uqw.2_Missense_Mutation_p.P398S	p.P401S	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	9	1426	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	401			Poly-Pro.		O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.1201C>T	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484306	0.44147	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.62941	-0.01;-0.01	5.61	4.77	0.60923	.	0.048005	0.85682	D	0.000000	T	0.59487	0.2197	N	0.08118	0	0.80722	D	1	D;B	0.89917	1.0;0.003	D;B	0.83275	0.996;0.009	T	0.57985	-0.7716	10	0.16420	T	0.52	-12.1542	14.3588	0.66754	0.0:0.9274:0.0:0.0726	.	398;401	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	S	398;401	ENSP00000354325:P398S;ENSP00000335055:P401S	ENSP00000335055:P401S	P	+	1	0	WASF3	26154961	1.000000	0.71417	0.043000	0.18650	0.006000	0.05464	7.048000	0.76606	1.359000	0.45940	0.491000	0.48974	CCA		0.706	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			20	46	0	0	0	0	20	46				
MTUS2	23281	broad.mit.edu	37	13	29599353	29599354	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:29599353_29599354GG>AA	ENST00000431530.3	+	1	606_607	c.548_549GG>AA	c.(547-549)aGG>aAA	p.R183K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	173						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAGGAACTGAGGAGGCATTCTT	0.545																																						uc001usl.3		NA																	0					0						c.(547-549)AGG>AAA		hypothetical protein LOC23281 isoform a																																				SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599353_29599354GG>AA	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	Exception_encountered	13.37:g.29599353_29599354delinsAA	ENSP00000392057:p.Arg183Lys						p.R183K	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	606_607	+			173					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	DNP	ENST00000431530.3	37	c.548_549GG>AA	CCDS45022.1																																																																																				0.545	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		14	73	0	0	0	0	14	73				
FRY	10129	broad.mit.edu	37	13	32776527	32776527	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:32776527A>G	ENST00000380250.3	+	31	4377	c.3881A>G	c.(3880-3882)aAa>aGa	p.K1294R		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1294						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TACTCAAAGAAAGTCGCTGAG	0.443																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(3880-3882)AAA>AGA		furry homolog							87.0	86.0	86.0					13																	32776527		1883	4109	5992	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32776527A>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3881A>G	13.37:g.32776527A>G	ENSP00000369600:p.Lys1294Arg					FRY_uc010tdw.1_RNA	p.K1294R	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	31	4377	+		Lung SC(185;0.0271)	1294					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.3881A>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.331125	0.41297	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.24908	1.83	5.24	5.24	0.73138	.	0.104529	0.64402	D	0.000004	T	0.15478	0.0373	N	0.11201	0.11	0.80722	D	1	B	0.17038	0.02	B	0.23150	0.044	T	0.09930	-1.0652	10	0.19590	T	0.45	.	15.141	0.72609	1.0:0.0:0.0:0.0	.	1294	Q5TBA9	FRY_HUMAN	R	1294;133	ENSP00000369600:K1294R	ENSP00000369600:K1294R	K	+	2	0	FRY	31674527	1.000000	0.71417	0.992000	0.48379	0.724000	0.41520	5.751000	0.68720	1.996000	0.58369	0.374000	0.22700	AAA		0.443	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		17	87	0	0	0	0	17	87				
FRY	10129	broad.mit.edu	37	13	32805375	32805375	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:32805375G>A	ENST00000380250.3	+	41	5961	c.5465G>A	c.(5464-5466)aGt>aAt	p.S1822N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1822						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AATTCAAAGAGTGCTGAACAG	0.353																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(5464-5466)AGT>AAT		furry homolog							168.0	151.0	157.0					13																	32805375		1883	4100	5983	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32805375G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5465G>A	13.37:g.32805375G>A	ENSP00000369600:p.Ser1822Asn					FRY_uc010tdw.1_RNA	p.S1822N	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	41	5961	+		Lung SC(185;0.0271)	1822					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5465G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122193	0.94429	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.30448	1.53	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66874	-0.5813	10	0.54805	T	0.06	.	19.9607	0.97248	0.0:0.0:1.0:0.0	.	1822	Q5TBA9	FRY_HUMAN	N	1822;659	ENSP00000369600:S1822N	ENSP00000369600:S1822N	S	+	2	0	FRY	31703375	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.471000	0.97696	2.713000	0.92767	0.585000	0.79938	AGT		0.353	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		18	51	0	0	0	0	18	51				
N4BP2L2	10443	broad.mit.edu	37	13	33016575	33016575	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:33016575C>T	ENST00000504114.1	-	6	2145	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.G685E|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.G700E|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.G603E			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AAAGGCAAACCCTTGTGATAA	0.398																																						uc010abe.1		NA																	0					0						c.(2098-2100)GGG>GAG		phosphonoformate immuno-associated protein 5							64.0	63.0	63.0					13																	33016575		1886	4132	6018	SO:0001583	missense	10443							g.chr13:33016575C>T	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.2054G>A	13.37:g.33016575C>T	ENSP00000427477:p.Gly685Glu					N4BP2L2_uc001uug.2_Missense_Mutation_p.G583E|N4BP2L2_uc010abd.1_Missense_Mutation_p.G613E|N4BP2L2_uc001uuh.2_Missense_Mutation_p.G531E|N4BP2L2_uc001uuj.2_Missense_Mutation_p.G119E|N4BP2L2_uc010tdz.1_Missense_Mutation_p.G685E	p.G700E	NM_033111	NP_149102	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	2121	-		Lung SC(185;0.0262)	Error:Variant_position_missing_in_Q92802_after_alignment					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.2099G>A		.	.	.	.	.	.	.	.	.	.	C	14.76	2.630887	0.46944	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000446957	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	5.31	-5.45	0.02616	.	1.504970	0.03538	N	0.223427	T	0.69878	0.3160	N	0.11201	0.11	0.09310	N	1	B;B;B;B;B	0.27882	0.002;0.012;0.017;0.192;0.004	B;B;B;B;B	0.36922	0.004;0.028;0.011;0.236;0.011	T	0.66085	-0.6011	10	0.02654	T	1	3.5009	0.7252	0.00948	0.2066:0.1923:0.2037:0.3974	.	685;700;583;603;583	B4DPY1;Q92802-3;Q96KV2;Q92802-2;Q9Y3H6	.;.;.;.;.	E	583;612;685;685;700;603	ENSP00000427477:G685E;ENSP00000350104:G685E;ENSP00000382328:G700E;ENSP00000394239:G603E	ENSP00000350104:G685E	G	-	2	0	N4BP2L2;RP11-298P3.4	31914575	0.000000	0.05858	0.000000	0.03702	0.630000	0.37929	-0.798000	0.04565	-1.828000	0.01202	-0.266000	0.10368	GGG		0.398	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		6	20	0	0	0	0	6	20				
NBEA	26960	broad.mit.edu	37	13	35622772	35622772	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:35622772G>A	ENST00000400445.3	+	5	1330	c.796G>A	c.(796-798)Gat>Aat	p.D266N	NBEA_ENST00000379939.2_Missense_Mutation_p.D266N|NBEA_ENST00000540320.1_Missense_Mutation_p.D266N|NBEA_ENST00000310336.4_Missense_Mutation_p.D266N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	266					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTTTCGTATGGATCCATTAAA	0.318																																						uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(796-798)GAT>AAT		neurobeachin							54.0	50.0	51.0					13																	35622772		1831	4068	5899	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35622772G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.796G>A	13.37:g.35622772G>A	ENSP00000383295:p.Asp266Asn						p.D266N	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	6	1002	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	266					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.796G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516221	0.96402	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.87549	0.6205	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88168	0.2862	10	0.62326	D	0.03	.	19.5572	0.95357	0.0:0.0:1.0:0.0	.	266	Q5T321	.	N	266	ENSP00000440951:D266N;ENSP00000383295:D266N;ENSP00000369271:D266N;ENSP00000308534:D266N	ENSP00000308534:D266N	D	+	1	0	NBEA	34520772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.808000	0.99193	2.622000	0.88805	0.484000	0.47621	GAT		0.318	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		11	16	0	0	0	0	11	16				
SMAD9	4093	broad.mit.edu	37	13	37446912	37446912	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:37446912G>A	ENST00000399275.2	-	2	692	c.553C>T	c.(553-555)Ccg>Tcg	p.P185S	SMAD9_ENST00000350148.5_Missense_Mutation_p.P185S|SMAD9_ENST00000379826.4_Missense_Mutation_p.P185S			O15198	SMAD9_HUMAN	SMAD family member 9	185					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCAGAGCACGGAGGCTGCTGG	0.647																																						uc001uvw.2		NA																	0					0						c.(553-555)CCG>TCG		SMAD family member 9 isoform a							151.0	127.0	135.0					13																	37446912		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37446912G>A		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.553C>T	13.37:g.37446912G>A	ENSP00000382216:p.Pro185Ser					SMAD9_uc001uvx.2_Missense_Mutation_p.P185S|SMAD9_uc010tep.1_Missense_Mutation_p.P15S	p.P185S	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	3	896	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	185					A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.553C>T	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547538	0.27652	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.94046	-3.33;-3.34;-3.33	5.38	4.49	0.54785	.	0.382752	0.32028	N	0.006695	D	0.90511	0.7027	L	0.52011	1.625	0.48087	D	0.999588	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	D	0.86561	0.1841	10	0.30854	T	0.27	.	15.828	0.78730	0.0:0.1356:0.8644:0.0	.	185;185	O15198-2;O15198	.;SMAD9_HUMAN	S	185	ENSP00000382216:P185S;ENSP00000239885:P185S;ENSP00000369154:P185S	ENSP00000239885:P185S	P	-	1	0	SMAD9	36344912	0.920000	0.31207	0.685000	0.30070	0.378000	0.30076	2.629000	0.46485	2.666000	0.90696	0.557000	0.71058	CCG		0.647	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		12	41	0	0	0	0	12	41				
POSTN	10631	broad.mit.edu	37	13	38160276	38160276	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:38160276C>T	ENST00000379747.4	-	7	1012	c.895G>A	c.(895-897)Gct>Act	p.A299T	POSTN_ENST00000541481.1_Splice_Site_p.A299T|POSTN_ENST00000379742.4_Splice_Site_p.A299T|POSTN_ENST00000379743.4_Splice_Site_p.A299T|POSTN_ENST00000379749.4_Splice_Site_p.A299T|POSTN_ENST00000541179.1_Splice_Site_p.A299T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	299	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATTAAACTACCTTCGGAAGCC	0.418																																						uc001uwo.3		NA																	0				ovary(2)	2						c.(895-897)GCT>ACT		periostin, osteoblast specific factor isoform 1							86.0	88.0	87.0					13																	38160276		2203	4300	6503	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38160276C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.895+1G>A	13.37:g.38160276C>T						POSTN_uc001uwp.3_Missense_Mutation_p.A299T|POSTN_uc001uwr.2_Missense_Mutation_p.A299T|POSTN_uc001uwq.2_Missense_Mutation_p.A299T|POSTN_uc010teu.1_Missense_Mutation_p.A299T|POSTN_uc010tev.1_Missense_Mutation_p.A299T|POSTN_uc010tew.1_Missense_Mutation_p.A299T|POSTN_uc010tex.1_Missense_Mutation_p.A214T	p.A299T	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	7	1013	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	299			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.895G>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902082	0.92035	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.81	5.81	0.92471	FAS1 domain (5);	0.047041	0.85682	N	0.000000	D	0.94542	0.8242	L	0.58969	1.84	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.999;0.997;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.998;1.0;0.998;0.996;0.958;1.0	D	0.93298	0.6674	9	.	.	.	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	299;299;299;299;299;299;299	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	299;299;299;299;299;299;216	ENSP00000437959:A299T;ENSP00000369073:A299T;ENSP00000369071:A299T;ENSP00000369067:A299T;ENSP00000369066:A299T;ENSP00000437953:A299T	.	A	-	1	0	POSTN	37058276	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.487000	0.81328	2.736000	0.93811	0.655000	0.94253	GCT		0.418	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Missense_Mutation	33	61	0	0	0	0	33	61				
MTRF1	9617	broad.mit.edu	37	13	41826834	41826834	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:41826834G>A	ENST00000379480.4	-	5	744	c.644C>T	c.(643-645)tCg>tTg	p.S215L	MTRF1_ENST00000379477.1_Missense_Mutation_p.S215L|MTRF1_ENST00000430347.2_Missense_Mutation_p.S228L|MTRF1_ENST00000239852.6_5'UTR	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	215					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TTTATAGCACGAATAATTCTG	0.333																																						uc001uxx.2		NA																	0					0						c.(643-645)TCG>TTG		mitochondrial translational release factor 1							73.0	70.0	71.0					13																	41826834		2202	4300	6502	SO:0001583	missense	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41826834G>A	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.644C>T	13.37:g.41826834G>A	ENSP00000368793:p.Ser215Leu					MTRF1_uc001uxy.2_Missense_Mutation_p.S215L|MTRF1_uc001uxz.2_Missense_Mutation_p.S51L|MTRF1_uc010tff.1_Missense_Mutation_p.S228L|MTRF1_uc001uyc.1_Missense_Mutation_p.S215L	p.S215L	NM_004294	NP_004285	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	7	1114	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)	215					B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	ENST00000379480.4	37	c.644C>T	CCDS9378.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515988	0.96402	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347;ENST00000452359	T;T;T;T	0.41400	2.78;2.78;2.78;1.0	5.88	5.88	0.94601	Peptide chain release factor (2);	0.110694	0.64402	D	0.000014	T	0.56630	0.1998	L	0.60067	1.865	0.80722	D	1	D;D	0.63046	0.992;0.985	P;P	0.53649	0.731;0.593	T	0.57728	-0.7761	10	0.87932	D	0	-5.843	20.1989	0.98252	0.0:0.0:1.0:0.0	.	228;215	B4DG01;O75570	.;RF1M_HUMAN	L	215;215;228;215	ENSP00000368793:S215L;ENSP00000368790:S215L;ENSP00000400031:S228L;ENSP00000399279:S215L	ENSP00000368790:S215L	S	-	2	0	MTRF1	40724834	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	9.111000	0.94308	2.784000	0.95788	0.591000	0.81541	TCG		0.333	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294		12	29	0	0	0	0	12	29				
DGKH	160851	broad.mit.edu	37	13	42733462	42733462	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:42733462C>T	ENST00000337343.4	+	6	704	c.683C>T	c.(682-684)aCt>aTt	p.T228I	DGKH_ENST00000536612.1_Missense_Mutation_p.T92I|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000379274.2_Missense_Mutation_p.T92I|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.T228I|DGKH_ENST00000261491.5_Missense_Mutation_p.T228I	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	228					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGTAAATGGACTACCCTGGCC	0.398																																						uc001uyl.1		NA																	0				ovary(2)	2						c.(682-684)ACT>ATT		diacylglycerol kinase, eta isoform 2							83.0	68.0	73.0					13																	42733462		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42733462C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.683C>T	13.37:g.42733462C>T	ENSP00000337572:p.Thr228Ile					DGKH_uc010tfh.1_Missense_Mutation_p.T228I|DGKH_uc001uym.1_Missense_Mutation_p.T228I|DGKH_uc010tfi.1_Intron|DGKH_uc010tfj.1_Missense_Mutation_p.T83I|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.T83I|DGKH_uc001uyp.2_RNA	p.T228I	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	6	704	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	228					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.683C>T	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767906	0.69878	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612	D;T;D;D;D	0.84730	-1.89;-1.41;-1.89;-1.55;-1.55	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.996	D;D;D	0.85130	0.981;0.997;0.989	D	0.93377	0.6740	10	0.87932	D	0	.	18.9676	0.92702	0.0:1.0:0.0:0.0	.	92;228;228	Q86XP1-3;Q86XP1-2;Q86XP1	.;.;DGKH_HUMAN	I	228;228;228;92;92	ENSP00000440823:T228I;ENSP00000337572:T228I;ENSP00000261491:T228I;ENSP00000368576:T92I;ENSP00000445114:T92I	ENSP00000261491:T228I	T	+	2	0	DGKH	41631462	1.000000	0.71417	0.953000	0.39169	0.261000	0.26267	7.442000	0.80503	2.462000	0.83206	0.655000	0.94253	ACT		0.398	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		5	22	0	0	0	0	5	22				
SPERT	220082	broad.mit.edu	37	13	46287594	46287594	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46287594C>T	ENST00000310521.1	+	3	514	c.434C>T	c.(433-435)cCc>cTc	p.P145L	SPERT_ENST00000378966.3_Missense_Mutation_p.P109L	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	145						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CTGCAGTCTCCCTACTTCTCC	0.617																																						uc001van.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(433-435)CCC>CTC		spermatid associated							64.0	67.0	66.0					13																	46287594		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287594C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.434C>T	13.37:g.46287594C>T	ENSP00000309189:p.Pro145Leu					SPERT_uc001vao.2_Missense_Mutation_p.P109L	p.P145L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	3	514	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	145					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.434C>T	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690421	0.29962	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.52526	0.66;0.66	4.97	4.13	0.48395	.	0.114017	0.39687	N	0.001290	T	0.57989	0.2091	L	0.50333	1.59	0.19775	N	0.999954	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.47182	-0.9137	10	0.51188	T	0.08	.	7.6439	0.28309	0.0:0.8129:0.0:0.1871	.	109;145	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	L	145;118;109	ENSP00000309189:P145L;ENSP00000368249:P109L	ENSP00000309189:P145L	P	+	2	0	SPERT	45185595	0.593000	0.26840	0.188000	0.23233	0.220000	0.24768	1.577000	0.36515	1.321000	0.45227	0.557000	0.71058	CCC		0.617	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		12	49	0	0	0	0	12	49				
SIAH3	283514	broad.mit.edu	37	13	46357846	46357846	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46357846G>A	ENST00000400405.2	-	2	588	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	161					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GCCAAGGCAGGAGTGCATGAT	0.597																																						uc001vap.2		NA																	0				ovary(1)|skin(1)	2						c.(481-483)TCC>TTC		seven in absentia homolog 3							45.0	53.0	50.0					13																	46357846		2084	4220	6304	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357846G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.482C>T	13.37:g.46357846G>A	ENSP00000383256:p.Ser161Phe						p.S161F	NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN			2	564	-			161					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.482C>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654945	0.88056	.	.	ENSG00000215475	ENST00000400405	T	0.28069	1.63	5.19	5.19	0.71726	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.55816	0.1944	M	0.65975	2.015	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	T	0.59279	-0.7484	10	0.87932	D	0	.	17.7051	0.88306	0.0:0.0:1.0:0.0	.	161	Q8IW03	SIAH3_HUMAN	F	161	ENSP00000383256:S161F	ENSP00000383256:S161F	S	-	2	0	SIAH3	45255847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.744000	0.98853	2.431000	0.82371	0.561000	0.74099	TCC		0.597	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		7	23	0	0	0	0	7	23				
LCP1	3936	broad.mit.edu	37	13	46701838	46701838	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46701838C>T	ENST00000398576.2	-	19	2160	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q	LCP1_ENST00000323076.2_Missense_Mutation_p.R591Q|LCP1_ENST00000435666.2_Missense_Mutation_p.R160Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	591	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCAATTTTTCGGGCCATAGA	0.488			T	BCL6	NHL																																	uc001vaz.3		NA		Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		0				lung(4)|ovary(3)	7						c.(1771-1773)CGA>CAA		L-plastin							153.0	148.0	150.0					13																	46701838		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46701838C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1772G>A	13.37:g.46701838C>T	ENSP00000381581:p.Arg591Gln					LCP1_uc010ack.2_Missense_Mutation_p.R160Q|LCP1_uc001vay.3_Missense_Mutation_p.R188Q|LCP1_uc001vba.3_Missense_Mutation_p.R591Q	p.R591Q	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	16	1898	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	591			Actin-binding 2.|CH 4.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1772G>A	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	36	5.769574	0.96914	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.94650	-3.48;-3.48;-3.48	5.54	5.54	0.83059	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97823	0.9285	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	D	0.98204	1.0469	10	0.66056	D	0.02	-8.2981	18.8301	0.92135	0.0:1.0:0.0:0.0	.	160;591	B4DUA0;P13796	.;PLSL_HUMAN	Q	591;591;160	ENSP00000315757:R591Q;ENSP00000381581:R591Q;ENSP00000405134:R160Q	ENSP00000315757:R591Q	R	-	2	0	LCP1	45599839	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.776000	0.85560	2.764000	0.94973	0.655000	0.94253	CGA		0.488	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		30	130	0	0	0	0	30	130				
KIAA0226L	80183	broad.mit.edu	37	13	46918956	46918956	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46918956C>T	ENST00000429979.1	-	14	2400	c.1796G>A	c.(1795-1797)gGa>gAa	p.G599E	KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G532E|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G442E|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G442E|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G599E|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G464E|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.E548K|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.E548K	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	599										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AAAGCCCTTTCCTTGACACAG	0.338																																						uc010acl.2		NA																	0					0						c.(1795-1797)GGA>GAA		hypothetical protein LOC80183							79.0	70.0	73.0					13																	46918956		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46918956C>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1796G>A	13.37:g.46918956C>T	ENSP00000396935:p.Gly599Glu					C13orf18_uc010tfy.1_Missense_Mutation_p.G122E|C13orf18_uc001vbf.3_Missense_Mutation_p.G532E|C13orf18_uc001vbg.3_Missense_Mutation_p.G327E|C13orf18_uc010tfz.1_Missense_Mutation_p.G442E|C13orf18_uc010acm.2_Missense_Mutation_p.G464E|C13orf18_uc010acn.2_Missense_Mutation_p.G384E|C13orf18_uc001vbe.3_Missense_Mutation_p.E548K|C13orf18_uc001vbh.3_Missense_Mutation_p.G599E|C13orf18_uc001vbi.3_Missense_Mutation_p.G442E	p.G599E	NM_025113	NP_079389	Q9H714	CM018_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)	14	2401	-		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	599					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.1796G>A	CCDS31970.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.361799|4.361799	0.82353|0.82353	.|.	.|.	ENSG00000102445|ENSG00000102445	ENST00000378797;ENST00000378787|ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T|T;T;T;T	0.51325|0.44881	0.71;0.71|0.91;0.92;0.91;0.94	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.168042|.	0.41396|.	D|.	0.000888|.	T|T	0.61236|0.61236	0.2331|0.2331	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	P|P;P;D;B;B	0.46142|0.55172	0.873|0.88;0.88;0.97;0.408;0.355	P|P;P;P;P;B	0.44990|0.62298	0.466|0.771;0.771;0.9;0.475;0.426	T|T	0.56757|0.56757	-0.7926|-0.7926	10|9	0.52906|0.26408	T|T	0.07|0.33	-16.9287|-16.9287	14.1563|14.1563	0.65419|0.65419	0.0:0.7528:0.2472:0.0|0.0:0.7528:0.2472:0.0	.|.	548|442;442;599;464;532	Q9H714-4|B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.|.;.;K226L_HUMAN;.;.	K|E	548|599;532;599;442;442;464	ENSP00000368074:E548K;ENSP00000368064:E548K|ENSP00000396935:G599E;ENSP00000368061:G532E;ENSP00000374558:G599E;ENSP00000437501:G464E	ENSP00000368064:E548K|ENSP00000315633:G442E	E|G	-|-	1|2	0|0	KIAA0226L|KIAA0226L	45816957|45816957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.549000|6.549000	0.73900|0.73900	2.814000|2.814000	0.96858|0.96858	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.338	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		3	20	0	0	0	0	3	20				
KPNA3	3839	broad.mit.edu	37	13	50285056	50285056	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:50285056G>A	ENST00000261667.3	-	11	1288	c.874C>T	c.(874-876)Ctt>Ttt	p.L292F		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	292					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TGGCTCAGAAGGGGCACAAGA	0.378																																						uc001vdj.2		NA																	0					0						c.(874-876)CTT>TTT		karyopherin alpha 3							76.0	69.0	72.0					13																	50285056		2203	4300	6503	SO:0001583	missense	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50285056G>A	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.874C>T	13.37:g.50285056G>A	ENSP00000261667:p.Leu292Phe						p.L292F	NM_002267	NP_002258	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	11	1289	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	292			ARM 6.		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	ENST00000261667.3	37	c.874C>T	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914899	0.92178	.	.	ENSG00000102753	ENST00000261667	D	0.83673	-1.75	5.84	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88883	0.6558	M	0.70842	2.15	0.80722	D	1	D	0.61080	0.989	P	0.60117	0.869	D	0.90023	0.4129	10	0.72032	D	0.01	-9.4206	14.6837	0.69035	0.0692:0.0:0.9308:0.0	.	292	O00505	IMA3_HUMAN	F	292	ENSP00000261667:L292F	ENSP00000261667:L292F	L	-	1	0	KPNA3	49183057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.025000	0.88777	1.477000	0.48234	0.557000	0.71058	CTT		0.378	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267		12	38	0	0	0	0	12	38				
KPNA3	3839	broad.mit.edu	37	13	50299560	50299560	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:50299560A>C	ENST00000261667.3	-	7	875	c.461T>G	c.(460-462)gTg>gGg	p.V154G		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	154	NLS binding site (major). {ECO:0000250}.			V -> G (in Ref. 3; AAB87693). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ACTAGACTGCACAACAGCTTG	0.338																																						uc001vdj.2		NA																	0					0						c.(460-462)GTG>GGG		karyopherin alpha 3							78.0	71.0	73.0					13																	50299560		2203	4300	6503	SO:0001583	missense	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50299560A>C	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.461T>G	13.37:g.50299560A>C	ENSP00000261667:p.Val154Gly						p.V154G	NM_002267	NP_002258	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	7	876	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	154	V -> G (in Ref. 3; AAB87693).		ARM 3.|NLS binding site (major) (By similarity).		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	ENST00000261667.3	37	c.461T>G	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.741952	0.89573	.	.	ENSG00000102753	ENST00000261667	T	0.73258	-0.73	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89876	0.6842	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93407	0.6765	10	0.87932	D	0	-16.9185	15.8876	0.79264	1.0:0.0:0.0:0.0	.	154	O00505	IMA3_HUMAN	G	154	ENSP00000261667:V154G	ENSP00000261667:V154G	V	-	2	0	KPNA3	49197561	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.144000	0.66660	0.496000	0.49642	GTG		0.338	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267		8	36	0	0	0	0	8	36				
FAM124A	220108	broad.mit.edu	37	13	51826338	51826338	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:51826338G>A	ENST00000322475.8	+	3	969		c.e3+1		FAM124A_ENST00000280057.6_Splice_Site	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCTCCTACAGGTACTGGGGGG	0.562																																						uc001vfg.1		NA																	0				central_nervous_system(1)	1						c.e3+1		hypothetical protein LOC220108							19.0	21.0	20.0					13																	51826338		2195	4297	6492	SO:0001630	splice_region_variant	220108							g.chr13:51826338G>A	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.834+1G>A	13.37:g.51826338G>A						FAM124A_uc001vfe.2_Missense_Mutation_p.V279I|FAM124A_uc001vff.1_Splice_Site_p.Q314_splice	p.Q278_splice	NM_145019	NP_659456	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	965	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A2A324|Q8N8P9|Q8NE66|Q96NJ9	Splice_Site	SNP	ENST00000322475.8	37	c.834_splice	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071249	0.36566	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9497	0.92637	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM124A	50724339	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	9.476000	0.97823	2.724000	0.93272	0.561000	0.74099	.		0.562	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019	Intron	7	17	0	0	0	0	7	17				
TDRD3	81550	broad.mit.edu	37	13	61102891	61102891	+	Missense_Mutation	SNP	C	C	T	rs138120427		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:61102891C>T	ENST00000196169.3	+	11	2041	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	TDRD3_ENST00000535286.1_Missense_Mutation_p.P511L|TDRD3_ENST00000377881.2_Missense_Mutation_p.P418L|TDRD3_ENST00000377894.2_Missense_Mutation_p.P418L	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	418					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GGAAAAGGTCCCTCCTTTGCA	0.363																																					Colon(36;164 906 35820 50723)	uc001via.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1252-1254)CCC>CTC		tudor domain containing 3 isoform 2							65.0	73.0	71.0					13																	61102891		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61102891C>T	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1253C>T	13.37:g.61102891C>T	ENSP00000196169:p.Pro418Leu					TDRD3_uc010aef.2_Missense_Mutation_p.P243L|TDRD3_uc001vhz.3_Missense_Mutation_p.P418L|TDRD3_uc010aeg.2_Missense_Mutation_p.P511L|TDRD3_uc001vib.3_Missense_Mutation_p.P417L	p.P418L	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	11	2041	+		Prostate(109;0.173)|Breast(118;0.174)	418					B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.1253C>T	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	C	2.441	-0.328626	0.05314	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.93859	-3.29;-3.29;-3.29;-3.3	6.02	3.41	0.39046	.	0.529741	0.22324	N	0.061547	D	0.84469	0.5479	N	0.16478	0.41	0.09310	N	0.999995	B;B;B	0.13145	0.007;0.005;0.002	B;B;B	0.16722	0.016;0.004;0.002	T	0.71777	-0.4490	10	0.34782	T	0.22	-1.3262	4.9071	0.13804	0.0:0.5072:0.1444:0.3484	.	511;417;418	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	L	418;418;418;511	ENSP00000196169:P418L;ENSP00000367113:P418L;ENSP00000367126:P418L;ENSP00000440190:P511L	ENSP00000196169:P418L	P	+	2	0	TDRD3	60000892	0.002000	0.14202	0.185000	0.23176	0.028000	0.11728	0.701000	0.25616	0.457000	0.26962	-0.145000	0.13849	CCC		0.363	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		15	75	0	0	0	0	15	75				
PCDH20	64881	broad.mit.edu	37	13	61986527	61986527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:61986527G>A	ENST00000409186.1	-	5	3810	c.1705C>T	c.(1705-1707)Caa>Taa	p.Q569*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.Q569*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	569	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TATGAAACTTGGCCTCTCTCC	0.443																																						uc001vid.3		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1705-1707)CAA>TAA		protocadherin 20							108.0	112.0	110.0					13																	61986527		2203	4300	6503	SO:0001587	stop_gained	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986527G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1705C>T	13.37:g.61986527G>A	ENSP00000386653:p.Gln569*					PCDH20_uc010thj.1_Nonsense_Mutation_p.Q569*	p.Q569*	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2069	-		Breast(118;0.195)|Prostate(109;0.229)	542			Extracellular (Potential).|Cadherin 4.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Nonsense_Mutation	SNP	ENST00000409186.1	37	c.1705C>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	39	7.506629	0.98325	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	.	.	.	6.0	5.11	0.69529	.	0.700523	0.13076	N	0.415683	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.6409	0.85098	0.0:0.2305:0.7695:0.0	.	.	.	.	X	569;569;315	.	ENSP00000351500:Q315X	Q	-	1	0	PCDH20	60884528	0.989000	0.36119	1.000000	0.80357	0.976000	0.68499	1.746000	0.38288	2.846000	0.97976	0.650000	0.86243	CAA		0.443	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		19	83	0	0	0	0	19	83				
PIBF1	10464	broad.mit.edu	37	13	73401257	73401257	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:73401257G>A	ENST00000326291.6	+	7	1253		c.e7+1			NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1							centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ATCAAAAGAGGTAAGCTTATA	0.313																																						uc001vjc.2		NA																	0				ovary(1)|breast(1)	2						c.e7+1		progesterone-induced blocking factor 1							54.0	54.0	54.0					13																	73401257		2203	4300	6503	SO:0001630	splice_region_variant	10464					centrosome		g.chr13:73401257G>A	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.915+1G>A	13.37:g.73401257G>A						PIBF1_uc001vja.1_Splice_Site_p.E305_splice|PIBF1_uc010aeo.1_Splice_Site|PIBF1_uc001vjb.2_Splice_Site_p.E305_splice|PIBF1_uc010aep.2_Intron	p.E305_splice	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	7	1220	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)						O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Splice_Site	SNP	ENST00000326291.6	37	c.915_splice	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521469	0.85600	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9917	0.97368	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIBF1	72299258	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.397000	0.79903	2.728000	0.93425	0.585000	0.79938	.		0.313	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346	Intron	12	31	0	0	0	0	12	31				
KLF12	11278	broad.mit.edu	37	13	74420074	74420074	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:74420074G>A	ENST00000377669.2	-	3	586	c.560C>T	c.(559-561)cCc>cTc	p.P187L	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.P187L	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	187					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TACCACCACGGGGATGCGGTG	0.507																																						uc001vjf.2		NA																	0				ovary(1)	1						c.(559-561)CCC>CTC		Kruppel-like factor 12							117.0	99.0	105.0					13																	74420074		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74420074G>A	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.560C>T	13.37:g.74420074G>A	ENSP00000366897:p.Pro187Leu					KLF12_uc010aeq.2_Missense_Mutation_p.P187L|KLF12_uc001vjg.3_Missense_Mutation_p.P187L	p.P187L	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	4	782	-		Prostate(6;0.00217)|Breast(118;0.0838)	187					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.560C>T	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913928	0.72983	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.35789	1.29;1.29	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.51426	-0.8707	10	0.30078	T	0.28	.	19.1188	0.93353	0.0:0.0:1.0:0.0	.	187	Q9Y4X4	KLF12_HUMAN	L	187	ENSP00000366897:P187L;ENSP00000366894:P187L	ENSP00000344057:P187L	P	-	2	0	KLF12	73318075	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	CCC		0.507	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		18	67	0	0	0	0	18	67				
TBC1D4	9882	broad.mit.edu	37	13	75898414	75898414	+	Silent	SNP	C	C	T	rs375371357		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:75898414C>T	ENST00000377636.3	-	11	2503	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000431480.2_Silent_p.Q719Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	719	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TACCTGAATTCTGGTAAAAGC	0.428																																						uc001vjl.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2155-2157)CAG>CAA		TBC1 domain family, member 4							109.0	110.0	109.0					13																	75898414		1844	4090	5934	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75898414C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2157G>A	13.37:g.75898414C>T						TBC1D4_uc010aer.2_Silent_p.Q719Q|TBC1D4_uc010aes.2_Intron	p.Q719Q	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	11	2504	-		Prostate(6;0.014)|Breast(118;0.0982)	719			Ser-rich.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.2157G>A	CCDS41901.1																																																																																				0.428	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		15	48	0	0	0	0	15	48				
FBXL3	26224	broad.mit.edu	37	13	77581856	77581856	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:77581856A>C	ENST00000355619.5	-	5	1035	c.711T>G	c.(709-711)agT>agG	p.S237R	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	237					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ACAACTCATCACTCAATAAGT	0.378																																						uc001vkd.2		NA																	0					0						c.(709-711)AGT>AGG		F-box and leucine-rich repeat protein 3							85.0	84.0	84.0					13																	77581856		2203	4300	6503	SO:0001583	missense	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581856A>C	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.711T>G	13.37:g.77581856A>C	ENSP00000347834:p.Ser237Arg						p.S237R	NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1082	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	237			LRR 4.		B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	c.711T>G	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.834849	0.50951	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	T;T	0.36340	1.26;1.26	6.06	-0.501	0.12008	.	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	M	0.66939	2.045	0.58432	D	0.999994	D	0.60575	0.988	P	0.55577	0.779	T	0.52283	-0.8596	10	0.87932	D	0	-15.7788	11.3145	0.49383	0.6014:0.0:0.3986:0.0	.	237	Q9UKT7	FBXL3_HUMAN	R	237;189	ENSP00000347834:S237R;ENSP00000412183:S189R	ENSP00000347834:S237R	S	-	3	2	FBXL3	76479857	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	1.037000	0.30241	0.145000	0.18977	-0.408000	0.06270	AGT		0.378	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			9	48	0	0	0	0	9	48				
MYCBP2	23077	broad.mit.edu	37	13	77670523	77670523	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:77670523C>T	ENST00000544440.2	-	57	9781	c.9764G>A	c.(9763-9765)gGa>gAa	p.G3255E	MYCBP2_ENST00000482517.1_5'Flank|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G3293E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G3255E					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAAGTGCTTCCTCCTATGCC	0.463																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(9763-9765)GGA>GAA		MYC binding protein 2							201.0	160.0	174.0					13																	77670523		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77670523C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9764G>A	13.37:g.77670523C>T	ENSP00000444596:p.Gly3255Glu					MYCBP2_uc010aev.2_Missense_Mutation_p.G2659E	p.G3255E	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	58	9855	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3255			Gly-rich.			Missense_Mutation	SNP	ENST00000544440.2	37	c.9764G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.130044	0.94473	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32023	1.47;1.47;1.47	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.53704	-0.8401	10	0.87932	D	0	.	19.2193	0.93790	0.0:1.0:0.0:0.0	.	3255	O75592	MYCB2_HUMAN	E	3255;3293;3255	ENSP00000349892:G3255E;ENSP00000384288:G3293E;ENSP00000444596:G3255E	ENSP00000349892:G3255E	G	-	2	0	MYCBP2	76568524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.524000	0.85096	0.655000	0.94253	GGA		0.463	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		28	73	0	0	0	0	28	73				
SLAIN1	122060	broad.mit.edu	37	13	78335135	78335135	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:78335135G>A	ENST00000466548.1	+	7	1547	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P	SLAIN1_ENST00000267219.8_Silent_p.P288P|SLAIN1_ENST00000418532.1_Silent_p.P288P|SLAIN1_ENST00000314070.5_Silent_p.P130P|SLAIN1_ENST00000358679.3_Silent_p.P244P|SLAIN1_ENST00000351546.3_Silent_p.P244P|SLAIN1_ENST00000488699.1_Silent_p.P365P	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	507										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TCCCCACACCGAACAAAGCTG	0.488																																						uc010thy.1		NA																	0				ovary(1)|skin(1)	2						c.(1093-1095)CCG>CCA		SLAIN motif family, member 1 B							100.0	93.0	95.0					13																	78335135		2203	4300	6503	SO:0001819	synonymous_variant	122060							g.chr13:78335135G>A	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1521G>A	13.37:g.78335135G>A						SLAIN1_uc001vkk.1_Silent_p.P288P|SLAIN1_uc001vkl.1_Silent_p.P244P|SLAIN1_uc010thz.1_Silent_p.P243P|SLAIN1_uc010aex.1_Silent_p.P130P|SLAIN1_uc010aey.1_Silent_p.P130P|SLAIN1_uc001vkm.2_Silent_p.P244P	p.P365P	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	6	1138	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	507					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Silent	SNP	ENST00000466548.1	37	c.1095G>A																																																																																					0.488	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		19	60	0	0	0	0	19	60				
EDNRB	1910	broad.mit.edu	37	13	78477474	78477474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:78477474C>T	ENST00000334286.5	-	3	854	c.618G>A	c.(616-618)tgG>tgA	p.W206*	EDNRB_ENST00000377211.4_Nonsense_Mutation_p.W296*|EDNRB_ENST00000446573.1_Nonsense_Mutation_p.W206*	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	206					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TAATTCTACTCCAAGAAGCAA	0.368																																						uc001vko.2		NA																	0					0						c.(616-618)TGG>TGA		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						105.0	116.0	112.0					13																	78477474		2203	4300	6503	SO:0001587	stop_gained	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78477474C>T	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.618G>A	13.37:g.78477474C>T	ENSP00000335311:p.Trp206*					EDNRB_uc001vkq.1_Nonsense_Mutation_p.W206*|uc001vkn.1_Intron|EDNRB_uc010aez.1_Nonsense_Mutation_p.W206*|EDNRB_uc001vkp.1_Nonsense_Mutation_p.W289*	p.W206*	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	3	876	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	206			Cytoplasmic (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Nonsense_Mutation	SNP	ENST00000334286.5	37	c.618G>A	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	38	7.038440	0.98021	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-11.3383	18.9533	0.92647	0.0:1.0:0.0:0.0	.	.	.	.	X	296;206;206	.	ENSP00000335311:W206X	W	-	3	0	EDNRB	77375475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	2.521000	0.84997	0.650000	0.86243	TGG		0.368	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			24	132	0	0	0	0	24	132				
RNF219	79596	broad.mit.edu	37	13	79191069	79191069	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:79191069G>A	ENST00000282003.6	-	6	885	c.827C>T	c.(826-828)tCt>tTt	p.S276F	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	276							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GCCATCTGCAGAAAGTGCTGT	0.443																																						uc001vkw.1		NA																	0				large_intestine(2)	2						c.(826-828)TCT>TTT		ring finger protein 219							101.0	101.0	101.0					13																	79191069		2203	4300	6503	SO:0001583	missense	79596						zinc ion binding	g.chr13:79191069G>A	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.827C>T	13.37:g.79191069G>A	ENSP00000282003:p.Ser276Phe					uc001vku.1_RNA|RNF219_uc010afb.1_Missense_Mutation_p.S86F|RNF219_uc010afc.2_Intron	p.S276F	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	6	886	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	276					B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	c.827C>T	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033577	0.54896	.	.	ENSG00000152193	ENST00000282003	.	.	.	6.17	6.17	0.99709	.	0.339284	0.29572	N	0.011777	T	0.68559	0.3014	L	0.53249	1.67	0.54753	D	0.99998	P	0.47409	0.895	P	0.47470	0.548	T	0.69179	-0.5213	9	0.66056	D	0.02	-16.6501	20.8794	0.99867	0.0:0.0:1.0:0.0	.	276	Q5W0B1	RN219_HUMAN	F	276	.	ENSP00000282003:S276F	S	-	2	0	RNF219	78089070	1.000000	0.71417	0.999000	0.59377	0.500000	0.33767	3.173000	0.50839	2.941000	0.99782	0.655000	0.94253	TCT		0.443	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		41	48	0	0	0	0	41	48				
SPRY2	10253	broad.mit.edu	37	13	80911432	80911432	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:80911432C>T	ENST00000377102.1	-	2	1386	c.409G>A	c.(409-411)Gga>Aga	p.G137R	SPRY2_ENST00000377104.3_Missense_Mutation_p.G137R|SPRY2_ENST00000540649.1_Missense_Mutation_p.G137R			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	137					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		AAGGATGATCCTAGCAGTCTC	0.562																																						uc001vli.2		NA																	0				ovary(1)|lung(1)	2						c.(409-411)GGA>AGA		sprouty 2							105.0	95.0	99.0					13																	80911432		2203	4300	6503	SO:0001583	missense	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911432C>T	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.409G>A	13.37:g.80911432C>T	ENSP00000366306:p.Gly137Arg					SPRY2_uc001vlj.2_Missense_Mutation_p.G137R	p.G137R	NM_005842	NP_005833	O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1387	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	137					B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	37	c.409G>A	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879123	0.51801	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.56275	0.47;0.47;0.47	5.03	4.18	0.49190	.	0.055265	0.64402	D	0.000001	T	0.52885	0.1762	M	0.71581	2.175	0.58432	D	0.999999	B	0.26935	0.164	B	0.25291	0.059	T	0.56353	-0.7993	10	0.72032	D	0.01	.	13.5934	0.61975	0.0:0.9247:0.0:0.0753	.	137	O43597	SPY2_HUMAN	R	137	ENSP00000366308:G137R;ENSP00000366306:G137R;ENSP00000439027:G137R	ENSP00000366306:G137R	G	-	1	0	SPRY2	79809433	1.000000	0.71417	0.030000	0.17652	0.888000	0.51559	7.263000	0.78421	1.117000	0.41842	0.561000	0.74099	GGA		0.562	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			14	54	0	0	0	0	14	54				
DNAJC3	5611	broad.mit.edu	37	13	96416196	96416196	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:96416196T>G	ENST00000602402.1	+	9	1181	c.1064T>G	c.(1063-1065)aTg>aGg	p.M355R	DNAJC3_ENST00000376795.6_Missense_Mutation_p.M304R	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	355					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATAGAGGAAATGTATGATGAA	0.353																																						uc001vmq.2		NA																	0					0						c.(1063-1065)ATG>AGG		DnaJ (Hsp40) homolog, subfamily C, member 3							139.0	138.0	138.0					13																	96416196		2203	4300	6503	SO:0001583	missense	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96416196T>G	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1064T>G	13.37:g.96416196T>G	ENSP00000473631:p.Met355Arg					DNAJC3_uc001vmr.2_Missense_Mutation_p.M304R	p.M355R	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		9	1172	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		355			TPR 9.		Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	c.1064T>G	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.545357	0.27652	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.337088	0.38959	N	0.001513	T	0.42200	0.1192	N	0.21194	0.64	0.43018	D	0.994568	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.30880	-0.9963	9	0.27785	T	0.31	-26.3754	11.5874	0.50927	0.1333:0.0:0.0:0.8667	.	355;355	A8KA82;Q13217	.;DNJC3_HUMAN	R	355	.	ENSP00000365991:M355R	M	+	2	0	DNAJC3	95214197	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.458000	0.45014	2.141000	0.66446	0.528000	0.53228	ATG		0.353	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			29	49	0	0	0	0	29	49				
FAM155A	728215	broad.mit.edu	37	13	108518049	108518049	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:108518049G>A	ENST00000375915.2	-	1	1034	c.896C>T	c.(895-897)tCc>tTc	p.S299F		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	299						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTCAGGACAGGATTTCACCGA	0.473																																						uc001vql.2		NA																	0				skin(1)	1						c.(895-897)TCC>TTC		family with sequence similarity 155, member A							96.0	99.0	98.0					13																	108518049		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518049G>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.896C>T	13.37:g.108518049G>A	ENSP00000365080:p.Ser299Phe						p.S299F	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	1412	-			299					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.896C>T	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046309	0.75846	.	.	ENSG00000204442	ENST00000375915	T	0.12774	2.65	5.68	5.68	0.88126	.	0.069354	0.64402	D	0.000017	T	0.28797	0.0714	L	0.32530	0.975	0.46478	D	0.999069	D	0.76494	0.999	D	0.71656	0.974	T	0.00706	-1.1601	10	0.56958	D	0.05	.	18.782	0.91937	0.0:0.0:1.0:0.0	.	299	B1AL88	F155A_HUMAN	F	299	ENSP00000365080:S299F	ENSP00000365080:S299F	S	-	2	0	FAM155A	107316050	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	9.439000	0.97543	2.668000	0.90789	0.563000	0.77884	TCC		0.473	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		20	68	0	0	0	0	20	68				
MYO16	23026	broad.mit.edu	37	13	109459108	109459108	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:109459108G>A	ENST00000357550.2	+	6	798	c.757G>A	c.(757-759)Gat>Aat	p.D253N	MYO16_ENST00000356711.2_Missense_Mutation_p.D253N|MYO16_ENST00000251041.5_Missense_Mutation_p.D253N	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CATAGTAGATGATCAGTACTG	0.418																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(757-759)GAT>AAT		myosin heavy chain Myr 8							130.0	120.0	123.0					13																	109459108		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109459108G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.757G>A	13.37:g.109459108G>A	ENSP00000350160:p.Asp253Asn					MYO16_uc010agk.1_Missense_Mutation_p.D275N|MYO16_uc001vqu.1_Missense_Mutation_p.D53N	p.D253N	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		7	883	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		253						Missense_Mutation	SNP	ENST00000357550.2	37	c.757G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	0.089	-1.170513	0.01660	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	T;T;T	0.64260	-0.09;-0.09;-0.09	5.05	0.508	0.16972	Ankyrin repeat-containing domain (4);	0.169350	0.25971	N	0.027136	T	0.40347	0.1113	N	0.20357	0.565	0.23192	N	0.998149	B;B	0.10296	0.003;0.001	B;B	0.14578	0.011;0.007	T	0.18618	-1.0331	9	.	.	.	.	8.5992	0.33734	0.7137:0.0:0.2863:0.0	.	253;253	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	N	253;253;253;253;41	ENSP00000349145:D253N;ENSP00000350160:D253N;ENSP00000251041:D253N	.	D	+	1	0	MYO16	108257109	0.998000	0.40836	0.005000	0.12908	0.006000	0.05464	1.362000	0.34148	-0.150000	0.11195	-0.136000	0.14681	GAT		0.418	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		21	48	0	0	0	0	21	48				
F10	2159	broad.mit.edu	37	13	113783849	113783849	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:113783849C>A	ENST00000375559.3	+	2	192	c.154C>A	c.(154-156)Cac>Aac	p.H52N	F10_ENST00000409306.1_Missense_Mutation_p.H52N|F10_ENST00000375551.3_Missense_Mutation_p.H52N|F10-AS1_ENST00000424635.1_RNA|F10_ENST00000483537.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	52	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GAAGAAAGGACACCTCGAAAG	0.567																																						uc001vsx.2		NA																	0				pancreas(1)	1						c.(154-156)CAC>AAC		coagulation factor X preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						126.0	117.0	120.0					13																	113783849		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113783849C>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.154C>A	13.37:g.113783849C>A	ENSP00000364709:p.His52Asn					F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.H52N|F10_uc001vsz.2_Missense_Mutation_p.H52N	p.H52N	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		2	211	+	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_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	52			Gla.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.154C>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.055145	0.00390	.	.	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.98602	-5.02;-5.02;-5.02	4.6	3.41	0.39046	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.052931	0.64402	N	0.000001	D	0.82458	0.5041	N	0.00032	-2.58	0.22266	N	0.999242	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.80894	-0.1178	10	0.02654	T	1	.	5.8079	0.18450	0.5691:0.1505:0.0:0.2803	.	52;52;52	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	N	52	ENSP00000387092:H52N;ENSP00000364701:H52N;ENSP00000364709:H52N	ENSP00000364701:H52N	H	+	1	0	F10	112831850	0.058000	0.20735	0.750000	0.31169	0.034000	0.12701	0.628000	0.24522	0.719000	0.32188	-0.256000	0.11100	CAC		0.567	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			18	65	1	0	5.39e-06	5.49e-06	18	65				
PCID2	55795	broad.mit.edu	37	13	113852537	113852537	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:113852537G>A	ENST00000337344.4	-	3	244	c.168C>T	c.(166-168)ccC>ccT	p.P56P	PCID2_ENST00000375459.1_Silent_p.P54P|PCID2_ENST00000246505.5_Silent_p.P56P|PCID2_ENST00000375479.2_Silent_p.P56P|PCID2_ENST00000375477.1_Silent_p.P56P|PCID2_ENST00000375457.2_Silent_p.P54P	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	56					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCATAAGGGGGTTCCAAGA	0.368																																						uc010tju.1		NA																	0					0						c.(166-168)CCC>CCT		PCI domain containing 2							117.0	121.0	120.0					13																	113852537		2203	4300	6503	SO:0001819	synonymous_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113852537G>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.168C>T	13.37:g.113852537G>A						PCID2_uc010tjv.1_Silent_p.P56P|PCID2_uc010tjw.1_Silent_p.P56P|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR|PCID2_uc001vtg.1_RNA	p.P56P	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		3	249	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	56					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP	ENST00000337344.4	37	c.168C>T	CCDS9532.2																																																																																				0.368	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		22	144	0	0	0	0	22	144				
POTEG	404785	broad.mit.edu	37	14	19553775	19553775	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:19553775G>C	ENST00000409832.3	+	1	411	c.359G>C	c.(358-360)tGg>tCg	p.W120S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	120								p.W120L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGGGCCCTTGGGGAGACTAC	0.602																																						uc001vuz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(358-360)TGG>TCG		POTE ankyrin domain family, member G							381.0	415.0	404.0					14																	19553775		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553775G>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.359G>C	14.37:g.19553775G>C	ENSP00000386971:p.Trp120Ser					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.W120S	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	411	+			120					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.359G>C	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	9.515	1.106788	0.20714	.	.	ENSG00000222036	ENST00000409832	T	0.26067	1.76	0.823	-0.389	0.12455	.	.	.	.	.	T	0.26774	0.0655	L	0.31065	0.9	0.09310	N	1	D	0.63046	0.992	P	0.59546	0.859	T	0.12477	-1.0546	9	0.46703	T	0.11	.	3.6659	0.08255	0.0:0.0:0.5674:0.4326	.	120	Q6S5H5	POTEG_HUMAN	S	120	ENSP00000386971:W120S	ENSP00000386971:W120S	W	+	2	0	POTEG	18623775	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.153000	0.10144	-0.162000	0.10964	0.416000	0.27883	TGG		0.602	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		54	680	0	0	0	0	54	680				
OR4N2	390429	broad.mit.edu	37	14	20296255	20296255	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20296255C>T	ENST00000315947.1	+	1	648	c.648C>T	c.(646-648)gcC>gcT	p.A216A	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTTCTGGCCTCCTATGCAG	0.493																																						uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(646-648)GCC>GCT		olfactory receptor, family 4, subfamily N,							120.0	120.0	120.0					14																	20296255		2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296255C>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.648C>T	14.37:g.20296255C>T							p.A216A	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	648	+	all_cancers(95;0.00108)		216			Helical; Name=5; (Potential).		Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.648C>T	CCDS32022.1																																																																																				0.493	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			25	117	0	0	0	0	25	117				
OR4K2	390431	broad.mit.edu	37	14	20344870	20344870	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20344870C>T	ENST00000298642.2	+	1	480	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGGCTTCCTGGATTATGG	0.468																																						uc001vwh.1		NA																	0				ovary(2)|skin(2)	4						c.(442-444)TCC>TCT		olfactory receptor, family 4, subfamily K,							311.0	309.0	309.0					14																	20344870		2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344870C>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.444C>T	14.37:g.20344870C>T							p.S148S	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	444	+	all_cancers(95;0.00108)		148			Helical; Name=4; (Potential).		B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.444C>T	CCDS32023.1																																																																																				0.468	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			46	246	0	0	0	0	46	246				
OR4K15	81127	broad.mit.edu	37	14	20443771	20443771	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20443771C>A	ENST00000305051.5	+	1	169	c.94C>A	c.(94-96)Cgg>Agg	p.R32R		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATCATTCTCGGGTGACAGA	0.403																																						uc010tkx.1		NA																	0				ovary(1)	1						c.(94-96)CGG>AGG		olfactory receptor, family 4, subfamily K,							115.0	118.0	117.0					14																	20443771		2203	4299	6502	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20443771C>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.94C>A	14.37:g.20443771C>A							p.R32R	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	94	+	all_cancers(95;0.00108)		32			Extracellular (Potential).		B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.94C>A	CCDS32026.1																																																																																				0.403	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			46	91	1	0	8e-19	8.3e-19	46	91				
OR4K15	81127	broad.mit.edu	37	14	20443795	20443795	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20443795G>A	ENST00000305051.5	+	1	193	c.118G>A	c.(118-120)Gga>Aga	p.G40R		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGTTGCTGGGACTGTCTAG	0.403																																						uc010tkx.1		NA																	0				ovary(1)	1						c.(118-120)GGA>AGA		olfactory receptor, family 4, subfamily K,							125.0	133.0	130.0					14																	20443795		2203	4299	6502	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20443795G>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.118G>A	14.37:g.20443795G>A	ENSP00000304077:p.Gly40Arg						p.G40R	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	118	+	all_cancers(95;0.00108)		40			Extracellular (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.118G>A	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	15.44	2.833511	0.50951	.	.	ENSG00000169488	ENST00000305051	T	0.00659	5.94	3.32	3.32	0.38043	.	0.000000	0.41097	D	0.000941	T	0.05227	0.0139	M	0.91406	3.205	0.27155	N	0.961311	D	0.89917	1.0	D	0.69142	0.962	T	0.01844	-1.1262	10	0.87932	D	0	.	12.1484	0.54036	0.0:0.0:1.0:0.0	.	40	Q8NH41	OR4KF_HUMAN	R	40	ENSP00000304077:G40R	ENSP00000304077:G40R	G	+	1	0	OR4K15	19513635	1.000000	0.71417	0.928000	0.36995	0.955000	0.61496	2.566000	0.45948	1.667000	0.50832	0.467000	0.42956	GGA		0.403	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			61	119	0	0	0	0	61	119				
OR4K15	81127	broad.mit.edu	37	14	20444538	20444539	+	Missense_Mutation	DNP	CA	CA	AG	rs200061378		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20444538_20444539CA>AG	ENST00000305051.5	+	1	936_937	c.861_862CA>AG	c.(859-864)agCAgt>agAGgt	p.287_288SS>RG		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCCTTCAGCAGTTACTCAGT	0.45																																						uc010tkx.1		NA																	0				ovary(1)	1						c.(859-864)AGCAGT>AGAGGT		olfactory receptor, family 4, subfamily K,																																				SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444538_20444539CA>AG		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	Exception_encountered	14.37:g.20444538_20444539delinsAG	ENSP00000304077:p.S287_S288delinsRG						p.287_288SS>RG	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	861_862	+	all_cancers(95;0.00108)		287_288			Extracellular (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	DNP	ENST00000305051.5	37	c.861_862CA>AG	CCDS32026.1																																																																																				0.450	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			25	77	0	0	0	0	25	77				
OR4K14	122740	broad.mit.edu	37	14	20482831	20482831	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20482831C>T	ENST00000305045.2	-	1	521	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGCTGTCTACCTCATTGGGGC	0.483																																						uc010tky.1		NA																	0				skin(2)|large_intestine(1)	3						c.(520-522)GAG>GAA		olfactory receptor, family 4, subfamily K,							81.0	80.0	80.0					14																	20482831		2203	4300	6503	SO:0001819	synonymous_variant	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482831C>T		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.522G>A	14.37:g.20482831C>T							p.E174E	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	522	-	all_cancers(95;0.00108)		174			Extracellular (Potential).		Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	c.522G>A	CCDS32027.1																																																																																				0.483	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			20	44	0	0	0	0	20	44				
OR4K13	390433	broad.mit.edu	37	14	20502834	20502834	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20502834G>A	ENST00000315693.2	-	1	85	c.84C>T	c.(82-84)ttC>ttT	p.F28F	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGAATCCCAAGAAGAATAAAA	0.403																																						uc010tkz.1		NA																	0				ovary(2)	2						c.(82-84)TTC>TTT		olfactory receptor, family 4, subfamily K,							60.0	59.0	60.0					14																	20502834		2201	4300	6501	SO:0001819	synonymous_variant	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502834G>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.84C>T	14.37:g.20502834G>A							p.F28F	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	84	-	all_cancers(95;0.00108)		28			Helical; Name=1; (Potential).		Q6IF13	Silent	SNP	ENST00000315693.2	37	c.84C>T	CCDS32028.1																																																																																				0.403	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			14	43	0	0	0	0	14	43				
TEP1	7011	broad.mit.edu	37	14	20845880	20845880	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20845880G>A	ENST00000262715.5	-	40	5794	c.5754C>T	c.(5752-5754)ccC>ccT	p.P1918P	TEP1_ENST00000545983.1_Silent_p.P256P|TEP1_ENST00000556935.1_Silent_p.P1810P	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1918					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGTGCCCACGGGGCCGACCCA	0.577																																						uc001vxe.2		NA																	0				ovary(5)	5						c.(5752-5754)CCC>CCT		telomerase-associated protein 1							48.0	56.0	54.0					14																	20845880		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20845880G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5754C>T	14.37:g.20845880G>A						TEP1_uc010ahk.2_Silent_p.P1261P|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.P1810P|TEP1_uc010tlh.1_Silent_p.P256P	p.P1918P	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	40	5794	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1918			WD 7.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.5754C>T	CCDS9548.1																																																																																				0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		14	70	0	0	0	0	14	70				
TPPP2	122664	broad.mit.edu	37	14	21499262	21499262	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:21499262G>A	ENST00000321760.6	+	3	413	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	TPPP2_ENST00000460647.2_Missense_Mutation_p.E89K|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.E89K|RP11-998D10.1_ENST00000531638.1_5'Flank|AL161668.5_ENST00000533984.1_lincRNA	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	89						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GAGTCCAGATGAAGTCCTGGA	0.537																																						uc001vzh.2		NA																	0					0						c.(265-267)GAA>AAA		tubulin polymerization-promoting protein family							107.0	100.0	103.0					14																	21499262		2203	4300	6503	SO:0001583	missense	122664					cytoplasm		g.chr14:21499262G>A	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.265G>A	14.37:g.21499262G>A	ENSP00000317595:p.Glu89Lys					NDRG2_uc010tll.1_Intron	p.E89K	NM_173846	NP_776245	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	453	+	all_cancers(95;0.000759)		89					Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	37	c.265G>A	CCDS9566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.32|19.32	3.805451|3.805451	0.70682|0.70682	.|.	.|.	ENSG00000179636|ENSG00000179636	ENST00000321760;ENST00000460647;ENST00000530140;ENST00000472458;ENST00000481535|ENST00000555751	T;T;T;T;T|.	0.49720|.	0.77;0.77;0.77;0.77;0.77|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71558|0.71558	0.3354|0.3354	M|M	0.65320|0.65320	2|2	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.70178|0.70178	-0.4943|-0.4943	10|5	0.62326|.	D|.	0.03|.	-26.422|-26.422	15.8316|15.8316	0.78757|0.78757	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	89|.	P59282|.	TPPP2_HUMAN|.	K|I	89;89;89;89;84|27	ENSP00000317595:E89K;ENSP00000427504:E89K;ENSP00000435356:E89K;ENSP00000423171:E89K;ENSP00000421438:E84K|.	ENSP00000317595:E89K|.	E|M	+|+	1|3	0|0	TPPP2|TPPP2	20569102|20569102	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.010000|0.010000	0.07245|0.07245	9.278000|9.278000	0.95766|0.95766	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.537	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		11	70	0	0	0	0	11	70				
ARHGEF40	55701	broad.mit.edu	37	14	21547156	21547156	+	Missense_Mutation	SNP	G	G	A	rs143586197		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:21547156G>A	ENST00000298694.4	+	11	2487	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R787Q			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	787						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CAGTGCCTGCGGCGACTCCAG	0.602																																						uc001vzp.2		NA																	0					0						c.(2359-2361)CGG>CAG		hypothetical protein LOC55701		G	GLN/ARG	0,4406		0,0,2203	40.0	38.0	39.0		2360	-1.0	0.0	14	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARHGEF40	NM_018071.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	787/1520	21547156	1,13005	2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21547156G>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2360G>A	14.37:g.21547156G>A	ENSP00000298694:p.Arg787Gln					FLJ10357_uc001vzo.1_5'UTR|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R73Q	p.R787Q	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	11	2389	+	all_cancers(95;0.00185)		787					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.2360G>A	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348297	0.24426	0.0	1.16E-4	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02656	4.27;4.21	5.3	-1.01	0.10169	.	0.842649	0.10366	N	0.683445	T	0.01870	0.0059	N	0.11201	0.11	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.45789	-0.9237	10	0.41790	T	0.15	.	9.2521	0.37562	0.4379:0.0:0.5621:0.0	.	787;787	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	Q	787	ENSP00000298694:R787Q;ENSP00000298693:R787Q	ENSP00000298693:R787Q	R	+	2	0	ARHGEF40	20616996	0.043000	0.20138	0.013000	0.15412	0.652000	0.38707	0.068000	0.14531	-0.329000	0.08527	0.563000	0.77884	CGG		0.602	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			15	27	0	0	0	0	15	27				
MMP14	4323	broad.mit.edu	37	14	23312536	23312536	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23312536C>T	ENST00000311852.6	+	5	1020	c.759C>T	c.(757-759)ccC>ccT	p.P253P	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	253					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CCAGTGACCCCTCGGCCATCA	0.577																																						uc001whc.2		NA																	0					0						c.(757-759)CCC>CCT		matrix metalloproteinase 14 preproprotein							97.0	89.0	92.0					14																	23312536		2203	4300	6503	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23312536C>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.759C>T	14.37:g.23312536C>T							p.P253P	NM_004995	NP_004986	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	5	993	+	all_cancers(95;9.47e-05)		253			Extracellular (Potential).		A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.759C>T	CCDS9577.1																																																																																				0.577	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		23	80	0	0	0	0	23	80				
RBM23	55147	broad.mit.edu	37	14	23374831	23374831	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23374831C>T	ENST00000359890.3	-	6	634	c.439G>A	c.(439-441)Gag>Aag	p.E147K	RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000346528.5_Intron|RBM23_ENST00000555209.1_Intron|RBM23_ENST00000399922.2_Missense_Mutation_p.E131K	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	147					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GGGCTCTTCTCTCTGAAATGA	0.383																																						uc001whg.2		NA																	0				skin(1)	1						c.(439-441)GAG>AAG		RNA binding motif protein 23 isoform 1							84.0	76.0	78.0					14																	23374831		1848	4096	5944	SO:0001583	missense	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23374831C>T	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.439G>A	14.37:g.23374831C>T	ENSP00000352956:p.Glu147Lys					RBM23_uc001whh.2_Missense_Mutation_p.E131K|RBM23_uc001whi.2_Intron|RBM23_uc010tne.1_5'UTR|RBM23_uc001whj.2_Intron|RBM23_uc001whk.1_Missense_Mutation_p.E147K	p.E147K	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	6	638	-	all_cancers(95;4.69e-05)		147					D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	ENST00000359890.3	37	c.439G>A	CCDS41921.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210695	0.58343	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922	T;T	0.78924	-1.22;1.31	4.88	3.03	0.35002	Nucleotide-binding, alpha-beta plait (1);	0.430351	0.22765	N	0.055905	T	0.66297	0.2775	N	0.17082	0.46	0.80722	D	1	P;B;B	0.49358	0.923;0.34;0.23	P;B;B	0.48952	0.596;0.07;0.032	T	0.58929	-0.7549	10	0.19590	T	0.45	-4.3702	9.8221	0.40889	0.0:0.7812:0.1401:0.0786	.	147;131;147	Q86U06-3;Q86U06-2;Q86U06	.;.;RBM23_HUMAN	K	147;124;131	ENSP00000352956:E147K;ENSP00000382806:E131K	ENSP00000305783:E147K	E	-	1	0	RBM23	22444671	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.953000	0.56699	0.756000	0.33013	0.655000	0.94253	GAG		0.383	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			26	78	0	0	0	0	26	78				
C14orf93	60686	broad.mit.edu	37	14	23465357	23465357	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23465357G>A	ENST00000299088.6	-	3	1147	c.718C>T	c.(718-720)Cca>Tca	p.P240S	RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.P240S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.P240S|C14orf93_ENST00000397382.4_Missense_Mutation_p.P240S|C14orf93_ENST00000557513.1_5'Flank|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Missense_Mutation_p.P60S|C14orf93_ENST00000341470.4_Missense_Mutation_p.P240S	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	240						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CCATTTTCTGGTCCTGTCTCT	0.602																																						uc001wib.1		NA																	0				ovary(1)	1						c.(718-720)CCA>TCA		hypothetical protein LOC60686 precursor							135.0	112.0	120.0					14																	23465357		2203	4300	6503	SO:0001583	missense	60686					extracellular region		g.chr14:23465357G>A	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.718C>T	14.37:g.23465357G>A	ENSP00000299088:p.Pro240Ser					C14orf93_uc001wic.1_Missense_Mutation_p.P60S|C14orf93_uc001wid.1_Missense_Mutation_p.P240S|C14orf93_uc001wig.2_Missense_Mutation_p.P240S|C14orf93_uc001wih.2_Missense_Mutation_p.P240S|C14orf93_uc001wie.2_Missense_Mutation_p.P240S|C14orf93_uc001wia.3_Missense_Mutation_p.P240S|C14orf93_uc001wif.2_Missense_Mutation_p.P60S	p.P240S	NM_021944	NP_068763	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	3	1028	-	all_cancers(95;3.3e-05)		240					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.718C>T	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697072	0.48202	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429;ENST00000397376	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.71	5.71	0.89125	.	0.283995	0.30347	N	0.009833	T	0.39462	0.1079	N	0.24115	0.695	0.36667	D	0.878252	P;P	0.48503	0.911;0.911	P;P	0.48704	0.587;0.587	T	0.29243	-1.0018	10	0.26408	T	0.33	-9.5472	17.3537	0.87330	0.0:0.0:1.0:0.0	.	240;240	Q9H972;Q9H972-2	CN093_HUMAN;.	S	240;240;240;240;60;240;60	ENSP00000299088:P240S;ENSP00000341353:P240S;ENSP00000380535:P240S;ENSP00000380538:P240S;ENSP00000380533:P60S;ENSP00000384768:P240S;ENSP00000380532:P60S	ENSP00000299088:P240S	P	-	1	0	C14orf93	22535197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.298000	0.51818	2.710000	0.92621	0.655000	0.94253	CCA		0.602	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		12	96	0	0	0	0	12	96				
PABPN1	8106	broad.mit.edu	37	14	23793208	23793209	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23793208_23793209GT>AA	ENST00000216727.4	+	5	857_858	c.676_677GT>AA	c.(676-678)GTg>AAg	p.V226K	PABPN1_ENST00000557702.1_Missense_Mutation_p.V98K|PABPN1_ENST00000397276.2_Missense_Mutation_p.V226K|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.V253K|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.V253K|AL049829.1_ENST00000594872.1_5'Flank|PABPN1_ENST00000556821.1_Missense_Mutation_p.V98K	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	226	Necessary for homooligomerization.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAAAGAGTCAGTGAGGACTTCC	0.411																																						uc001wjk.2		NA																	0				ovary(2)	2						c.(676-678)GTG>AAG		poly(A) binding protein, nuclear 1																																				SO:0001583	missense	8106				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr14:23793208_23793209GT>AA	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	Exception_encountered	14.37:g.23793208_23793209delinsAA	ENSP00000216727:p.Val226Lys					PABPN1_uc001wjh.3_Missense_Mutation_p.V253K|PABPN1_uc001wjj.2_Missense_Mutation_p.V226K	p.V226K	NM_004643	NP_004634	Q86U42	PABP2_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	5	1958_1959	+	all_cancers(95;6.69e-06)		226			Necessary for homooligomerization.|RRM.		D3DS49|O43484	Missense_Mutation	DNP	ENST00000216727.4	37	c.676_677GT>AA	CCDS9592.1																																																																																				0.411	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		10	65	0	0	0	0	10	65				
MYH6	4624	broad.mit.edu	37	14	23855233	23855233	+	Silent	SNP	C	C	T	rs202210008		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23855233C>T	ENST00000356287.3	-	33	5096	c.5067G>A	c.(5065-5067)gaG>gaA	p.E1689E	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Silent_p.E1689E			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1689					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGGCACGCAGCTCCTCCAGCT	0.642																																						uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(5065-5067)GAG>GAA		myosin heavy chain 6							70.0	59.0	63.0					14																	23855233		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855233C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5067G>A	14.37:g.23855233C>T							p.E1689E	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	34	5134	-	all_cancers(95;2.54e-05)		1689			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.5067G>A	CCDS9600.1																																																																																				0.642	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			12	33	0	0	0	0	12	33				
DHRS4L2	317749	broad.mit.edu	37	14	24459498	24459498	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24459498A>G	ENST00000335125.6	+	2	362	c.236A>G	c.(235-237)gAg>gGg	p.E79G	DHRS4L2_ENST00000537912.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.E77G|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.E79G	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	77						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		CTGCAGGGGGAGGGGCTGAGC	0.687																																						uc001wli.3		NA																	0				ovary(1)	1						c.(235-237)GAG>GGG		dehydrogenase/reductase (SDR family) member 4							37.0	40.0	39.0					14																	24459498		2201	4298	6499	SO:0001583	missense	317749						binding|oxidoreductase activity	g.chr14:24459498A>G		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.236A>G	14.37:g.24459498A>G	ENSP00000334801:p.Glu79Gly					DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|DHRS4L2_uc001wlg.3_RNA|DHRS4L2_uc001wlh.3_RNA|DHRS4L2_uc010tnt.1_Missense_Mutation_p.E77G	p.E79G	NM_198083	NP_932349	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	366	+			51					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.236A>G	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660349	0.29515	.	.	ENSG00000187630	ENST00000348916;ENST00000397071;ENST00000335125;ENST00000537912;ENST00000545240;ENST00000382755	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	3.5	3.5	0.40072	NAD(P)-binding domain (1);	0.313351	0.34386	N	0.004018	D	0.86793	0.6018	N	0.21508	0.67	0.80722	D	1	B;D	0.76494	0.198;0.999	B;D	0.70935	0.17;0.971	D	0.86244	0.1645	10	0.49607	T	0.09	.	10.2563	0.43399	1.0:0.0:0.0:0.0	.	79;77	F6TD35;Q6PKH6	.;DR4L2_HUMAN	G	51;79;79;79;79;77	ENSP00000380261:E79G;ENSP00000334801:E79G;ENSP00000439942:E79G;ENSP00000437883:E79G;ENSP00000372203:E77G	ENSP00000334801:E79G	E	+	2	0	DHRS4L2	23529338	1.000000	0.71417	0.794000	0.32065	0.040000	0.13550	6.397000	0.73239	1.364000	0.46038	0.338000	0.21704	GAG		0.687	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			3	64	0	0	0	0	3	64				
IPO4	79711	broad.mit.edu	37	14	24647314	24647314	+	IGR	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24647314C>T	ENST00000354464.6	-	0	3646				REC8_ENST00000311457.3_Silent_p.P293P|REC8_ENST00000559919.1_Silent_p.P293P	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCCCAGTCCCCCCACCTCCTC	0.612																																						uc001wmr.2		NA																	0					0						c.(880-882)CCC>CCT		REC8 homolog							32.0	39.0	37.0					14																	24647314		1854	4097	5951	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24647314C>T	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24647314C>T						REC8_uc001wms.2_Silent_p.P294P	p.P294P	NM_005132	NP_005123	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	14	1309	+			294			Pro-rich.|Glu-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	c.882C>T	CCDS9616.1																																																																																				0.612	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		10	67	0	0	0	0	10	67				
NYNRIN	57523	broad.mit.edu	37	14	24884780	24884780	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24884780C>T	ENST00000382554.3	+	9	4143	c.3825C>T	c.(3823-3825)ctC>ctT	p.L1275L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1275					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGGCCCTCCTCCAGGGCCTGC	0.632																																						uc001wpf.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3823-3825)CTC>CTT		hypothetical protein LOC57523							45.0	49.0	48.0					14																	24884780		1929	4130	6059	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884780C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3825C>T	14.37:g.24884780C>T							p.L1275L	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	4143	+			1275					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.3825C>T	CCDS45090.1																																																																																				0.632	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			23	74	0	0	0	0	23	74				
KHNYN	23351	broad.mit.edu	37	14	24901080	24901080	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24901080G>A	ENST00000251343.5	+	3	752	c.613G>A	c.(613-615)Gca>Aca	p.A205T	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.A205T|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.A205T			O15037	KHNYN_HUMAN	KH and NYN domain containing	205							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GGGGCCAGGAGCACTGGCTTC	0.652											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wph.3		NA																	0				ovary(2)|liver(1)	3						c.(613-615)GCA>ACA		hypothetical protein LOC23351							54.0	58.0	57.0					14																	24901080		2202	4298	6500	SO:0001583	missense	23351							g.chr14:24901080G>A	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.613G>A	14.37:g.24901080G>A	ENSP00000251343:p.Ala205Thr		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc010tpc.1_Missense_Mutation_p.A246T|KHNYN_uc010alw.2_Missense_Mutation_p.A205T|CBLN3_uc001wpg.3_5'Flank	p.A205T	NM_015299	NP_056114	O15037	KHNYN_HUMAN			3	815	+			205					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.613G>A	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.233792	0.01505	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.23147	1.92;1.92;1.92	3.79	0.84	0.18912	.	1.641560	0.03410	N	0.204708	T	0.13543	0.0328	N	0.12182	0.205	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19418	-1.0306	10	0.16896	T	0.51	.	3.8729	0.09044	0.2326:0.202:0.5654:0.0	.	246;205	D3DS77;O15037	.;KHNYN_HUMAN	T	205	ENSP00000251343:A205T;ENSP00000451106:A205T;ENSP00000450799:A205T	ENSP00000251343:A205T	A	+	1	0	KHNYN	23970920	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.312000	0.19397	0.062000	0.16340	-0.253000	0.11424	GCA		0.652	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			20	105	0	0	0	0	20	105				
G2E3	55632	broad.mit.edu	37	14	31071301	31071301	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31071301G>A	ENST00000206595.6	+	10	1128	c.974G>A	c.(973-975)aGa>aAa	p.R325K	G2E3_ENST00000553504.1_Missense_Mutation_p.R355K|G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Missense_Mutation_p.R279K	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	325					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R325K(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAATTACCCAGACAGTCACCT	0.348																																						uc001wqk.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|skin(1)	3						c.(973-975)AGA>AAA		G2/M-phase specific E3 ubiquitin ligase							70.0	71.0	71.0					14																	31071301		2203	4298	6501	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31071301G>A	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.974G>A	14.37:g.31071301G>A	ENSP00000206595:p.Arg325Lys					G2E3_uc010tpe.1_Missense_Mutation_p.R240K|G2E3_uc010tpf.1_Missense_Mutation_p.R279K	p.R325K	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			10	1128	+			325					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.974G>A	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726431	0.69074	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.80123	-1.34;0.98;-0.76	5.46	4.57	0.56435	.	0.230295	0.44483	D	0.000445	D	0.86920	0.6049	L	0.57536	1.79	0.31043	N	0.716143	P;D	0.69078	0.473;0.997	B;D	0.72625	0.091;0.978	D	0.86653	0.1899	10	0.56958	D	0.05	-15.5126	14.0579	0.64781	0.0725:0.0:0.9275:0.0	.	240;325	B4DIF9;Q7L622	.;G2E3_HUMAN	K	325;279;355	ENSP00000206595:R325K;ENSP00000391068:R279K;ENSP00000451653:R355K	ENSP00000206595:R325K	R	+	2	0	G2E3	30141052	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.330000	0.43885	1.297000	0.44761	0.655000	0.94253	AGA		0.348	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		26	44	0	0	0	0	26	44				
SCFD1	23256	broad.mit.edu	37	14	31185183	31185183	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31185183C>T	ENST00000458591.2	+	20	1910	c.1683C>T	c.(1681-1683)ccC>ccT	p.P561P	SCFD1_ENST00000541123.1_Splice_Site_p.P376P|SCFD1_ENST00000396629.2_Splice_Site_p.P469P|SCFD1_ENST00000421551.3_Splice_Site_p.P502P|SCFD1_ENST00000544052.2_Splice_Site_p.P494P	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	561					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGTCAAACCCCGTGAGTACCA	0.328																																						uc001wqm.1		NA																	0					0						c.(1681-1683)CCC>CCT		vesicle transport-related protein isoform a							66.0	69.0	68.0					14																	31185183		2203	4298	6501	SO:0001630	splice_region_variant	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31185183C>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1683+1C>T	14.37:g.31185183C>T						SCFD1_uc001wqn.1_Silent_p.P494P|SCFD1_uc010tpg.1_Silent_p.P502P|SCFD1_uc010tph.1_Silent_p.P376P|SCFD1_uc010amf.1_Silent_p.P376P|SCFD1_uc010tpi.1_Silent_p.P469P|SCFD1_uc010amd.1_3'UTR|SCFD1_uc010ame.1_Silent_p.P494P	p.P561P	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	20	1707	+	Hepatocellular(127;0.0877)		561					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	ENST00000458591.2	37	c.1683C>T	CCDS9639.1																																																																																				0.328	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835	Silent	9	86	0	0	0	0	9	86				
COCH	1690	broad.mit.edu	37	14	31346827	31346827	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31346827G>A	ENST00000396618.3	+	4	188	c.132G>A	c.(130-132)gaG>gaA	p.E44E	COCH_ENST00000460581.2_5'UTR|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Silent_p.E44E|COCH_ENST00000216361.4_Silent_p.E44E|COCH_ENST00000382493.4_5'Flank	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	44	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCAGGAAAGAGAAAGCAGATG	0.463																																						uc001wqr.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(130-132)GAG>GAA		cochlin precursor							110.0	106.0	108.0					14																	31346827		2203	4300	6503	SO:0001819	synonymous_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31346827G>A		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.132G>A	14.37:g.31346827G>A						COCH_uc001wqp.2_Silent_p.E44E|COCH_uc001wqq.3_Silent_p.E44E|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank	p.E44E	NM_004086	NP_004077	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	4	212	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		44			LCCL.		A8K9K9|D3DS84|Q96IU6	Silent	SNP	ENST00000396618.3	37	c.132G>A	CCDS9640.1																																																																																				0.463	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		10	77	0	0	0	0	10	77				
HECTD1	25831	broad.mit.edu	37	14	31574596	31574596	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31574596G>A	ENST00000399332.1	-	40	7880	c.7392C>T	c.(7390-7392)gcC>gcT	p.A2464A	HECTD1_ENST00000553700.1_Silent_p.A2464A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2464	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)		TACCTCTAAAGGCTTCCATTT	0.363																																						uc001wrc.1		NA																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(7390-7392)GCC>GCT		HECT domain containing 1							156.0	147.0	150.0					14																	31574596		1825	4078	5903	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31574596G>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.7392C>T	14.37:g.31574596G>A						HECTD1_uc001wra.1_Silent_p.A590A|HECTD1_uc001wrb.1_Silent_p.A590A	p.A2464A	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)	40	7881	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2464			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.7392C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	8.904	0.957084	0.18507	.	.	ENSG00000092148	ENST00000554882	.	.	.	5.8	1.37	0.22104	.	.	.	.	.	T	0.46034	0.1372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26326	-1.0106	4	.	.	.	-6.1853	4.068	0.09869	0.4011:0.0:0.3496:0.2492	.	.	.	.	L	830	.	.	P	-	2	0	HECTD1	30644347	0.895000	0.30542	1.000000	0.80357	0.995000	0.86356	-0.021000	0.12504	0.352000	0.24053	0.563000	0.77884	CCT		0.363	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			68	147	0	0	0	0	68	147				
AKAP6	9472	broad.mit.edu	37	14	33293542	33293542	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:33293542C>T	ENST00000280979.4	+	13	6693	c.6523C>T	c.(6523-6525)Cct>Tct	p.P2175S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2175					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCTAGTGCTCCTCCAAATGA	0.468																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(6523-6525)CCT>TCT		A-kinase anchor protein 6							90.0	79.0	83.0					14																	33293542		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33293542C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6523C>T	14.37:g.33293542C>T	ENSP00000280979:p.Pro2175Ser						p.P2175S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6693	+	Breast(36;0.0388)|Prostate(35;0.15)		2175					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.6523C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	2.502	-0.314869	0.05422	.	.	ENSG00000151320	ENST00000280979	T	0.04454	3.62	6.03	0.839	0.18907	.	0.688531	0.14366	N	0.324101	T	0.04634	0.0126	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38200	-0.9672	10	0.54805	T	0.06	0.006	2.4708	0.04564	0.2572:0.33:0.283:0.1299	.	2175	Q13023	AKAP6_HUMAN	S	2175	ENSP00000280979:P2175S	ENSP00000280979:P2175S	P	+	1	0	AKAP6	32363293	0.000000	0.05858	0.015000	0.15790	0.015000	0.08874	0.254000	0.18314	0.128000	0.18479	-0.165000	0.13383	CCT		0.468	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		7	36	0	0	0	0	7	36				
KIAA0391	9692	broad.mit.edu	37	14	35595980	35595980	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:35595980C>T	ENST00000557565.1	+	3	1407	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V	KIAA0391_ENST00000321130.10_Intron|KIAA0391_ENST00000605870.1_5'UTR|KIAA0391_ENST00000534898.4_Silent_p.V342V|KIAA0391_ENST00000603544.1_Intron|KIAA0391_ENST00000604948.1_Silent_p.V247V|KIAA0391_ENST00000250377.7_Silent_p.V247V|KIAA0391_ENST00000603588.1_Intron	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	342					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCACCACAGTCCGAAAAAGGT	0.318																																						uc001wsy.1		NA																	0					0						c.(1024-1026)GTC>GTT		mitochondrial RNase P protein 3 precursor							106.0	99.0	101.0					14																	35595980		2203	4300	6503	SO:0001819	synonymous_variant	9692				tRNA processing	mitochondrion		g.chr14:35595980C>T	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1026C>T	14.37:g.35595980C>T						KIAA0391_uc010tps.1_Silent_p.V247V|KIAA0391_uc001wsz.1_Intron|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Intron|KIAA0391_uc001wtc.1_5'UTR	p.V342V	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	3	1386	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		342					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	c.1026C>T	CCDS32063.1																																																																																				0.318	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		4	27	0	0	0	0	4	27				
SLC25A21	89874	broad.mit.edu	37	14	37194875	37194875	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:37194875G>A	ENST00000331299.5	-	6	853	c.338C>T	c.(337-339)gCc>gTc	p.A113V	SLC25A21_ENST00000555449.1_Missense_Mutation_p.A113V	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	113					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TCCAGCAATGGCGAATGTCTA	0.368																																						uc001wtz.1		NA																	0				skin(1)	1						c.(337-339)GCC>GTC		solute carrier family 25 (mitochondrial							85.0	80.0	82.0					14																	37194875		2203	4300	6503	SO:0001583	missense	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37194875G>A	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.338C>T	14.37:g.37194875G>A	ENSP00000329452:p.Ala113Val						p.A113V	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	6	648	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		113			Solcar 2.|Helical; Name=3; (Potential).		A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	ENST00000331299.5	37	c.338C>T	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206542	0.58343	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.79033	-1.23;-1.23	5.47	4.57	0.56435	Mitochondrial carrier domain (2);	0.205916	0.51477	D	0.000085	T	0.68016	0.2955	L	0.41573	1.285	0.40044	D	0.975695	P	0.38535	0.635	B	0.39119	0.291	T	0.65380	-0.6182	10	0.06757	T	0.87	-0.0579	14.6845	0.69040	0.0711:0.0:0.9289:0.0	.	113	Q9BQT8	ODC_HUMAN	V	113	ENSP00000451873:A113V;ENSP00000329452:A113V	ENSP00000329452:A113V	A	-	2	0	SLC25A21	36264626	1.000000	0.71417	0.992000	0.48379	0.784000	0.44337	5.737000	0.68606	1.279000	0.44446	0.650000	0.86243	GCC		0.368	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631		7	35	0	0	0	0	7	35				
MIA2	117153	broad.mit.edu	37	14	39717158	39717158	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:39717158C>T	ENST00000280082.3	+	4	1579	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	MIA2_ENST00000556784.1_Silent_p.F459F|RP11-407N17.3_ENST00000553728.1_Silent_p.F460F	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	460					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGAAAAAGTTCTTGTATAATT	0.308																																						uc001wux.2		NA																	0				ovary(1)|breast(1)	2						c.(1378-1380)TTC>TTT		melanoma inhibitory activity 2							53.0	58.0	57.0					14																	39717158		2202	4298	6500	SO:0001819	synonymous_variant	117153					extracellular region		g.chr14:39717158C>T	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1380C>T	14.37:g.39717158C>T						MIA2_uc010amy.1_Silent_p.F391F	p.F460F	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	4	1574	+	Hepatocellular(127;0.213)		460					A1L4H0|Q9H6C1	Silent	SNP	ENST00000280082.3	37	c.1380C>T	CCDS9672.1																																																																																				0.308	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		24	90	0	0	0	0	24	90				
RPL10L	140801	broad.mit.edu	37	14	47120888	47120888	+	Missense_Mutation	SNP	G	G	A	rs146301674		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:47120888G>A	ENST00000298283.3	-	1	140	c.52C>T	c.(52-54)Cca>Tca	p.P18S		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	18					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CGAGATTTTGGGTACGGCTTG	0.547																																						uc001wwg.2		NA																	0				ovary(1)	1						c.(52-54)CCA>TCA		ribosomal protein L10-like protein		G	SER/PRO	2,4404	2.1+/-5.4	0,2,2201	92.0	97.0	95.0		52	4.3	0.6	14	dbSNP_134	95	0,8600		0,0,4300	no	missense	RPL10L	NM_080746.2	74	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	18/215	47120888	2,13004	2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120888G>A	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.52C>T	14.37:g.47120888G>A	ENSP00000298283:p.Pro18Ser						p.P18S	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	141	-			18					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.52C>T	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792155	0.50102	4.54E-4	0.0	ENSG00000165496	ENST00000298283	T	0.72835	-0.69	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (2);	0.057000	0.64402	N	0.000001	T	0.80675	0.4668	M	0.92691	3.335	0.80722	D	1	B	0.15930	0.015	B	0.33750	0.169	T	0.82497	-0.0428	10	0.87932	D	0	-16.9732	15.1202	0.72438	0.0:0.0:1.0:0.0	.	18	Q96L21	RL10L_HUMAN	S	18	ENSP00000298283:P18S	ENSP00000298283:P18S	P	-	1	0	RPL10L	46190638	1.000000	0.71417	0.581000	0.28614	0.415000	0.31203	6.930000	0.75858	2.688000	0.91661	0.655000	0.94253	CCA		0.547	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			42	87	0	0	0	0	42	87				
TMEM260	54916	broad.mit.edu	37	14	57099810	57099810	+	Missense_Mutation	SNP	C	C	T	rs544576056	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:57099810C>T	ENST00000261556.6	+	13	1767	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	TMEM260_ENST00000538838.1_3'UTR|TMEM260_ENST00000536419.1_Missense_Mutation_p.P83S|RP11-1085N6.2_ENST00000553800.1_RNA|RP11-1085N6.2_ENST00000555924.1_RNA	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	549						integral component of membrane (GO:0016021)											CAAATTAGTTCCTTTGGAGAT	0.378													C|||	3	0.000599042	0.0	0.0	5008	,	,		14410	0.003		0.0	False		,,,				2504	0.0					uc001xcm.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1645-1647)CCT>TCT		hypothetical protein LOC54916							74.0	79.0	78.0					14																	57099810		2203	4300	6503	SO:0001583	missense	54916					integral to membrane		g.chr14:57099810C>T	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1645C>T	14.37:g.57099810C>T	ENSP00000261556:p.Pro549Ser					C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Missense_Mutation_p.P82S|C14orf101_uc001xco.2_Missense_Mutation_p.P82S	p.P549S	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	13	1767	+			549					A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.1645C>T	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599858	0.28534	.	.	ENSG00000070269	ENST00000261556;ENST00000536419	T;T	0.43688	1.49;0.94	5.57	2.23	0.28157	.	0.164213	0.56097	N	0.000039	T	0.31857	0.0810	L	0.41027	1.25	0.40548	D	0.981095	B	0.10296	0.003	B	0.12156	0.007	T	0.12066	-1.0562	10	0.34782	T	0.22	7.327	10.6785	0.45799	0.0:0.6855:0.0:0.3145	.	549	Q9NX78	CN101_HUMAN	S	549;83	ENSP00000261556:P549S;ENSP00000438742:P83S	ENSP00000261556:P549S	P	+	1	0	C14orf101	56169563	0.988000	0.35896	1.000000	0.80357	0.950000	0.60333	0.296000	0.19083	0.673000	0.31224	0.650000	0.86243	CCT		0.378	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		31	51	0	0	0	0	31	51				
C14orf37	145407	broad.mit.edu	37	14	58605578	58605578	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:58605578T>G	ENST00000267485.7	-	2	693	c.499A>C	c.(499-501)Act>Cct	p.T167P	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	167						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGAAAGTTAGTGCTTGTAAGG	0.408																																						uc001xdc.2		NA																	0					0						c.(499-501)ACT>CCT		hypothetical protein LOC145407 precursor							51.0	50.0	50.0					14																	58605578		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605578T>G		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.499A>C	14.37:g.58605578T>G	ENSP00000267485:p.Thr167Pro					C14orf37_uc010tro.1_Missense_Mutation_p.T205P|C14orf37_uc001xdd.2_Missense_Mutation_p.T167P|C14orf37_uc001xde.2_Missense_Mutation_p.T167P	p.T167P	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	610	-			167			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.499A>C	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.734859	0.48939	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.34472	1.36	6.17	-0.475	0.12104	.	0.633246	0.16309	N	0.220099	T	0.19087	0.0458	L	0.41236	1.265	0.09310	N	1	B;P;B;B	0.37207	0.023;0.587;0.023;0.023	B;B;B;B	0.32465	0.039;0.146;0.039;0.023	T	0.10222	-1.0639	10	0.37606	T	0.19	-1.4709	0.334	0.00323	0.2945:0.2446:0.1307:0.3302	.	205;167;167;167	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	P	167;205	ENSP00000267485:T167P	ENSP00000267485:T167P	T	-	1	0	C14orf37	57675331	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.439000	0.21575	0.191000	0.20236	0.533000	0.62120	ACT		0.408	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		4	38	0	0	0	0	4	38				
ARID4A	5926	broad.mit.edu	37	14	58814436	58814436	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:58814436C>T	ENST00000355431.3	+	15	1617	c.1244C>T	c.(1243-1245)cCa>cTa	p.P415L	ARID4A_ENST00000395168.3_Missense_Mutation_p.P415L|ARID4A_ENST00000431317.2_Missense_Mutation_p.P415L|ARID4A_ENST00000348476.3_Missense_Mutation_p.P415L	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	415					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CACCATGAACCAAAAGTAAAA	0.348																																						uc001xdp.2		NA																	0				ovary(3)|skin(2)|lung(1)	6						c.(1243-1245)CCA>CTA		retinoblastoma-binding protein 1 isoform I							60.0	64.0	63.0					14																	58814436		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58814436C>T	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1244C>T	14.37:g.58814436C>T	ENSP00000347602:p.Pro415Leu					ARID4A_uc001xdo.2_Missense_Mutation_p.P415L|ARID4A_uc001xdq.2_Missense_Mutation_p.P415L|ARID4A_uc010apg.1_Missense_Mutation_p.P93L	p.P415L	NM_002892	NP_002883	P29374	ARI4A_HUMAN			15	1498	+			415					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.1244C>T	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777305	0.90195	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.63255	1.17;-0.03;-0.03;-0.03;-0.03	5.54	5.54	0.83059	ARID/BRIGHT DNA-binding domain (1);	0.103798	0.64402	D	0.000002	T	0.73187	0.3555	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.73379	-0.4001	10	0.51188	T	0.08	-11.6468	19.4789	0.95000	0.0:1.0:0.0:0.0	.	415;415;415	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	L	415;415;415;415;93	ENSP00000347602:P415L;ENSP00000344556:P415L;ENSP00000378597:P415L;ENSP00000397368:P415L;ENSP00000416053:P93L	ENSP00000344556:P415L	P	+	2	0	ARID4A	57884189	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.625000	0.83145	2.598000	0.87819	0.650000	0.86243	CCA		0.348	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		32	75	0	0	0	0	32	75				
DACT1	51339	broad.mit.edu	37	14	59113414	59113414	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:59113414G>A	ENST00000335867.4	+	4	2097	c.2073G>A	c.(2071-2073)ctG>ctA	p.L691L	DACT1_ENST00000541264.2_Silent_p.L410L|DACT1_ENST00000395153.3_Silent_p.L654L|DACT1_ENST00000556859.1_Silent_p.L410L			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	691					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAGAGGCCCTGAGGAGGGCCC	0.677																																						uc001xdw.2		NA																	0				large_intestine(2)|lung(2)|ovary(1)	5						c.(2071-2073)CTG>CTA		dapper 1 isoform 1							16.0	18.0	17.0					14																	59113414		2190	4281	6471	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113414G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2073G>A	14.37:g.59113414G>A						DACT1_uc010trv.1_Silent_p.L410L|DACT1_uc001xdx.2_Silent_p.L654L|DACT1_uc010trw.1_Silent_p.L410L	p.L691L	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	2237	+			691					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.2073G>A	CCDS9736.1																																																																																				0.677	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		9	32	0	0	0	0	9	32				
PCNXL4	64430	broad.mit.edu	37	14	60591858	60591858	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:60591858C>T	ENST00000406854.1	+	9	3523	c.2969C>T	c.(2968-2970)cCt>cTt	p.P990L	PCNXL4_ENST00000535349.1_Missense_Mutation_p.P197L|PCNXL4_ENST00000317623.4_Missense_Mutation_p.P756L|PCNXL4_ENST00000406949.1_Missense_Mutation_p.P756L|PCNXL4_ENST00000404681.2_Missense_Mutation_p.P990L			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	990						integral component of membrane (GO:0016021)											AATATGGCTCCTAGTCCTGGT	0.378																																						uc001xer.3		NA																	0				ovary(2)	2						c.(2266-2268)CCT>CTT		hepatitis C virus F protein-binding protein 2							64.0	65.0	65.0					14																	60591858		2203	4300	6503	SO:0001583	missense	64430					integral to membrane		g.chr14:60591858C>T	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2969C>T	14.37:g.60591858C>T	ENSP00000384801:p.Pro990Leu					C14orf135_uc001xeq.2_Missense_Mutation_p.P756L|C14orf135_uc010apm.2_RNA	p.P756L	NM_022495	NP_071940	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	8	2789	+		Myeloproliferative disorder(585;0.163)	990					A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.2267C>T		.	.	.	.	.	.	.	.	.	.	C	15.73	2.919780	0.52653	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.31247	1.96;1.97;1.94;1.97;1.5	5.18	5.18	0.71444	.	0.338965	0.35739	N	0.003005	T	0.51975	0.1706	M	0.65975	2.015	0.58432	D	0.999998	D;D	0.89917	0.969;1.0	P;D	0.91635	0.858;0.999	T	0.43442	-0.9391	10	0.08599	T	0.76	.	19.0466	0.93022	0.0:1.0:0.0:0.0	.	990;756	Q63HM2;B5MC47	CN135_HUMAN;.	L	756;990;756;990;197	ENSP00000317396:P756L;ENSP00000384801:P990L;ENSP00000385201:P756L;ENSP00000385713:P990L;ENSP00000445644:P197L	ENSP00000317396:P756L	P	+	2	0	C14orf135	59661611	1.000000	0.71417	0.959000	0.39883	0.714000	0.41099	3.640000	0.54350	2.572000	0.86782	0.305000	0.20034	CCT		0.378	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		12	25	0	0	0	0	12	25				
PRKCH	5583	broad.mit.edu	37	14	61952223	61952223	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:61952223C>T	ENST00000332981.5	+	10	1667	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	PRKCH_ENST00000555082.1_Missense_Mutation_p.R267C	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TATCCAGGATCGTCTGTTTTT	0.473																																					Melanoma(135;863 1779 8064 14443 26348)	uc001xfn.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6						c.(1282-1284)CGT>TGT		protein kinase C, eta							234.0	233.0	233.0					14																	61952223		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61952223C>T	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1282C>T	14.37:g.61952223C>T	ENSP00000329127:p.Arg428Cys					PRKCH_uc010tsa.1_Missense_Mutation_p.R267C|PRKCH_uc010tsb.1_5'UTR	p.R428C	NM_006255	NP_006246	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	10	1587	+			428			Protein kinase.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.1282C>T	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321884	0.81580	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.66815	-0.23;-0.23	5.35	5.35	0.76521	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	0.000003	T	0.75838	0.3904	L	0.42581	1.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76664	-0.2876	10	0.87932	D	0	.	14.4542	0.67407	0.147:0.853:0.0:0.0	.	428	P24723	KPCL_HUMAN	C	428;267	ENSP00000329127:R428C;ENSP00000450981:R267C	ENSP00000329127:R428C	R	+	1	0	PRKCH	61021976	1.000000	0.71417	0.932000	0.37286	0.877000	0.50540	4.535000	0.60629	2.941000	0.99782	0.655000	0.94253	CGT		0.473	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		127	272	0	0	0	0	127	272				
SYT16	83851	broad.mit.edu	37	14	62536443	62536443	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:62536443G>A	ENST00000430451.2	+	2	843	c.646G>A	c.(646-648)Gga>Aga	p.G216R	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.G216R	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	216					exocytosis (GO:0006887)			p.G216*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTGAGAAAGGAAAGCAGAC	0.483																																						uc001xfu.1		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	central_nervous_system(1)	1						c.(646-648)GGA>AGA		synaptotagmin XIV-like							140.0	135.0	136.0					14																	62536443		1937	4135	6072	SO:0001583	missense	83851							g.chr14:62536443G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.646G>A	14.37:g.62536443G>A	ENSP00000394700:p.Gly216Arg					SYT16_uc010tsd.1_Missense_Mutation_p.G216R	p.G216R	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	2	843	+			216					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.646G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287903	0.59976	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.32515	1.45;3.76	4.8	0.883	0.19177	.	0.586784	0.17464	N	0.173354	T	0.46112	0.1376	L	0.59436	1.845	0.28034	N	0.93402	D;D	0.89917	1.0;0.991	D;P	0.97110	1.0;0.814	T	0.32079	-0.9920	10	0.42905	T	0.14	-30.7374	9.4114	0.38494	0.3801:0.0:0.6199:0.0	.	216;216	B4DZH2;Q17RD7	.;SYT16_HUMAN	R	216	ENSP00000388023:G216R;ENSP00000394700:G216R	ENSP00000394700:G216R	G	+	1	0	SYT16	61606196	0.998000	0.40836	0.992000	0.48379	0.856000	0.48823	0.830000	0.27462	0.056000	0.16144	0.655000	0.94253	GGA		0.483	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		51	116	0	0	0	0	51	116				
PLEKHG3	26030	broad.mit.edu	37	14	65208865	65208865	+	Missense_Mutation	SNP	C	C	T	rs201083535		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:65208865C>T	ENST00000394691.1	+	16	2777	c.2630C>T	c.(2629-2631)cCg>cTg	p.P877L	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.P382L|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.P821L|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.P410L			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	877							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGGCGCAGCCCGGCCCACCTG	0.672																																						uc001xho.1		NA																	0				skin(1)	1						c.(2629-2631)CCG>CTG		pleckstrin homology domain containing, family G,		C	LEU/PRO	3,4401		0,3,2199	19.0	25.0	23.0		2462	5.1	0.9	14		23	1,8593		0,1,4296	yes	missense	PLEKHG3	NM_015549.1	98	0,4,6495	TT,TC,CC		0.0116,0.0681,0.0308	possibly-damaging	821/1164	65208865	4,12994	2202	4297	6499	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208865C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2630C>T	14.37:g.65208865C>T	ENSP00000378183:p.Pro877Leu					PLEKHG3_uc001xhn.1_Missense_Mutation_p.P821L|PLEKHG3_uc001xhp.2_Missense_Mutation_p.P998L|PLEKHG3_uc010aqh.1_Missense_Mutation_p.P419L|PLEKHG3_uc001xhq.1_Missense_Mutation_p.P382L	p.P877L	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	16	2899	+			877					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.2630C>T		.	.	.	.	.	.	.	.	.	.	C	16.32	3.091225	0.55968	6.81E-4	1.16E-4	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.63417	0.42;-0.04;1.34;1.36	5.96	5.06	0.68205	.	0.417764	0.23148	N	0.051382	T	0.65365	0.2684	L	0.60455	1.87	0.42532	D	0.993045	D;P;P;P	0.67145	0.996;0.954;0.669;0.882	P;B;B;B	0.48488	0.579;0.423;0.084;0.382	T	0.70212	-0.4934	10	0.72032	D	0.01	.	13.6051	0.62041	0.1558:0.8442:0.0:0.0	.	410;382;877;821	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	L	821;877;410;382	ENSP00000247226:P821L;ENSP00000378183:P877L;ENSP00000450945:P410L;ENSP00000450973:P382L	ENSP00000247226:P821L	P	+	2	0	PLEKHG3	64278618	0.000000	0.05858	0.899000	0.35326	0.754000	0.42855	0.618000	0.24373	1.487000	0.48415	0.655000	0.94253	CCG		0.672	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		12	40	0	0	0	0	12	40				
FNTB	2342	broad.mit.edu	37	14	65453806	65453806	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:65453806C>T	ENST00000246166.2	+	1	369	c.135C>T	c.(133-135)tcC>tcT	p.S45S	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	45					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGTCACGTCCATAGAACAGG	0.667																																						uc001xia.2		NA																	0				ovary(1)	1						c.(133-135)TCC>TCT		farnesyltransferase, CAAX box, beta							42.0	39.0	40.0					14																	65453806		2203	4300	6503	SO:0001819	synonymous_variant	2342				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity	g.chr14:65453806C>T		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.135C>T	14.37:g.65453806C>T						FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|uc001xib.2_5'Flank	p.S45S	NM_002028	NP_002019	P49356	FNTB_HUMAN		all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	1	300	+			45					B2RDX6|B4E1A0	Silent	SNP	ENST00000246166.2	37	c.135C>T	CCDS9769.1																																																																																				0.667	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		16	31	0	0	0	0	16	31				
PLEK2	26499	broad.mit.edu	37	14	67859925	67859925	+	Silent	SNP	G	G	A	rs149134361		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:67859925G>A	ENST00000216446.4	-	4	563	c.423C>T	c.(421-423)acC>acT	p.T141T		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	141	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		AACGGATTCCGGTGTTGCTAT	0.582																																						uc001xjh.1		NA																	0				ovary(1)|pancreas(1)	2						c.(421-423)ACC>ACT		pleckstrin 2		G		1,4405	2.1+/-5.4	0,1,2202	259.0	228.0	238.0		423	-11.8	0.0	14	dbSNP_134	238	0,8600		0,0,4300	no	coding-synonymous	PLEK2	NM_016445.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		141/354	67859925	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26499				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		g.chr14:67859925G>A	AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"""Pleckstrin homology (PH) domain containing"""	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.423C>T	14.37:g.67859925G>A							p.T141T	NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	4	475	-			141			DEP.		Q96JT0	Silent	SNP	ENST00000216446.4	37	c.423C>T	CCDS9782.1																																																																																				0.582	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2			41	213	0	0	0	0	41	213				
DCAF5	8816	broad.mit.edu	37	14	69558501	69558501	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:69558501G>A	ENST00000341516.5	-	6	916	c.769C>T	c.(769-771)Cct>Tct	p.P257S	DCAF5_ENST00000556847.1_Missense_Mutation_p.P175S|DCAF5_ENST00000557386.1_Missense_Mutation_p.P256S|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Missense_Mutation_p.P175S|DCAF5_ENST00000389997.6_Missense_Mutation_p.P257S	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	257					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TAGAGCACAGGGGGCAGGCGT	0.542																																						uc001xkp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(769-771)CCT>TCT		WD repeat domain 22							83.0	78.0	80.0					14																	69558501		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69558501G>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.769C>T	14.37:g.69558501G>A	ENSP00000341351:p.Pro257Ser					DCAF5_uc001xkq.2_Missense_Mutation_p.P256S|DCAF5_uc001xkr.3_Missense_Mutation_p.P257S	p.P257S	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			6	988	-			257					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.769C>T	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001293	0.93227	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386;ENST00000389997;ENST00000554681	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.83	5.83	0.93111	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	M	0.68317	2.08	0.80722	D	1	P;D;D	0.71674	0.953;0.998;0.998	P;D;P	0.68621	0.631;0.959;0.893	T	0.54159	-0.8335	10	0.59425	D	0.04	-11.2475	20.1162	0.97934	0.0:0.0:1.0:0.0	.	257;256;257	Q8TBB7;G3V4J7;Q96JK2	.;.;DCAF5_HUMAN	S	257;175;175;256;257;174	ENSP00000341351:P257S;ENSP00000451551:P175S;ENSP00000452052:P175S;ENSP00000451845:P256S;ENSP00000374647:P257S;ENSP00000451394:P174S	ENSP00000341351:P257S	P	-	1	0	DCAF5	68628254	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.530000	0.81962	2.756000	0.94617	0.655000	0.94253	CCT		0.542	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		20	126	0	0	0	0	20	126				
PCNX	22990	broad.mit.edu	37	14	71444535	71444535	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:71444535C>T	ENST00000304743.2	+	6	1927	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	PCNX_ENST00000439984.3_Missense_Mutation_p.P494L|PCNX_ENST00000238570.5_Missense_Mutation_p.P494L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	494						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AATAAAAATCCCCATGCAAAT	0.493																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(1480-1482)CCC>CTC		pecanex-like 1							46.0	49.0	48.0					14																	71444535		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444535C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1481C>T	14.37:g.71444535C>T	ENSP00000304192:p.Pro494Leu					PCNX_uc001xmn.3_Missense_Mutation_p.P494L|PCNX_uc010are.1_Missense_Mutation_p.P494L	p.P494L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	1927	+			494					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1481C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228600	0.58777	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.14144	3.23;3.19;2.53	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.11842	-1.0571	10	0.72032	D	0.01	.	19.2222	0.93801	0.0:1.0:0.0:0.0	.	494;494;494	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	L	494	ENSP00000304192:P494L;ENSP00000238570:P494L;ENSP00000396617:P494L	ENSP00000238570:P494L	P	+	2	0	PCNX	70514288	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.127000	0.77210	2.774000	0.95407	0.650000	0.86243	CCC		0.493	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		10	27	0	0	0	0	10	27				
ZFYVE1	53349	broad.mit.edu	37	14	73490962	73490962	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:73490962C>T	ENST00000556143.1	-	2	975	c.255G>A	c.(253-255)agG>agA	p.R85R	ZFYVE1_ENST00000553891.1_Silent_p.R85R|ZFYVE1_ENST00000318876.5_Silent_p.R85R	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	85					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTGCCCTCTGCCTAACACCTG	0.517																																						uc001xnm.2		NA																	0				skin(1)	1						c.(253-255)AGG>AGA		zinc finger, FYVE domain containing 1 isoform 1							177.0	179.0	178.0					14																	73490962		2203	4300	6503	SO:0001819	synonymous_variant	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73490962C>T	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.255G>A	14.37:g.73490962C>T						ZFYVE1_uc010arj.2_Silent_p.R85R	p.R85R	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	2	895	-		all_lung(585;1.33e-09)	85					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	ENST00000556143.1	37	c.255G>A	CCDS9811.1																																																																																				0.517	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		44	210	0	0	0	0	44	210				
FAM161B	145483	broad.mit.edu	37	14	74411450	74411450	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:74411450G>A	ENST00000534936.1	-	3	618	c.513C>T	c.(511-513)gtC>gtT	p.V171V	FAM161B_ENST00000286544.3_Silent_p.V234V			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	171										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						ATGGCCGAGGGACAGTAATGG	0.662																																						uc001xpd.1		NA																	0				ovary(1)	1						c.(511-513)GTC>GTT		hypothetical protein LOC145483							30.0	30.0	30.0					14																	74411450		2203	4300	6503	SO:0001819	synonymous_variant	145483							g.chr14:74411450G>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.513C>T	14.37:g.74411450G>A							p.V171V	NM_152445	NP_689658					3	619	-								B7Z882|J3KNA2	Silent	SNP	ENST00000534936.1	37	c.513C>T																																																																																					0.662	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		4	33	0	0	0	0	4	33				
SYNDIG1L	646658	broad.mit.edu	37	14	74874630	74874630	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:74874630G>A	ENST00000554823.1	-	2	541	c.480C>T	c.(478-480)gaC>gaT	p.D160D	SYNDIG1L_ENST00000331628.3_Silent_p.D160D			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	160					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GTCCCAGGTGGTCCCTGGGAG	0.577																																						uc001xpx.2		NA																	0					0						c.(478-480)GAC>GAT		transmembrane protein 90A							107.0	116.0	113.0					14																	74874630		2203	4300	6503	SO:0001819	synonymous_variant	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74874630G>A		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.480C>T	14.37:g.74874630G>A							p.D160D	NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00159)	3	728	-			160						Silent	SNP	ENST00000554823.1	37	c.480C>T	CCDS41970.1																																																																																				0.577	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		6	43	0	0	0	0	6	43				
ANGEL1	23357	broad.mit.edu	37	14	77275791	77275791	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77275791G>T	ENST00000251089.2	-	2	372	c.260C>A	c.(259-261)gCc>gAc	p.A87D	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	87										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTGCTCTGGGCTAGTCCTTT	0.567																																						uc001xsv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(259-261)GCC>GAC		angel homolog 1							43.0	44.0	43.0					14																	77275791		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77275791G>T	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.260C>A	14.37:g.77275791G>T	ENSP00000251089:p.Ala87Asp					ANGEL1_uc010tvf.1_Missense_Mutation_p.A87D	p.A87D	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	2	373	-			87					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.260C>A	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670411	0.29693	.	.	ENSG00000013523	ENST00000251089	T	0.26223	1.75	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000015	T	0.36880	0.0983	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.76575	0.988;0.855	T	0.12192	-1.0557	10	0.72032	D	0.01	-3.694	11.1136	0.48247	0.0924:0.0:0.9076:0.0	.	87;87	B4DVG4;Q9UNK9	.;ANGE1_HUMAN	D	87	ENSP00000251089:A87D	ENSP00000251089:A87D	A	-	2	0	ANGEL1	76345544	1.000000	0.71417	0.932000	0.37286	0.279000	0.26890	3.384000	0.52478	2.527000	0.85204	0.655000	0.94253	GCC		0.567	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		9	53	1	0	0.00621372	0.00626664	9	53				
POMT2	29954	broad.mit.edu	37	14	77746178	77746178	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77746178C>T	ENST00000261534.4	-	18	2081	c.1879G>A	c.(1879-1881)Gcg>Acg	p.A627T		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	627						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GCAACCTCCGCTGGCAGCCGT	0.657																																						uc001xti.2		NA																	0				ovary(1)	1						c.(1879-1881)GCG>ACG		protein-O-mannosyltransferase 2							53.0	45.0	48.0					14																	77746178		2203	4300	6503	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77746178C>T	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1879G>A	14.37:g.77746178C>T	ENSP00000261534:p.Ala627Thr					POMT2_uc001xth.1_Missense_Mutation_p.A325T	p.A627T	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	18	2080	-			627					Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.1879G>A	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160543	0.38119	.	.	ENSG00000009830	ENST00000261534	D	0.92348	-3.02	5.67	-0.508	0.11980	.	0.894596	0.09919	N	0.738796	D	0.83308	0.5226	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.65413	-0.6174	10	0.16420	T	0.52	1.8736	2.5387	0.04721	0.1167:0.389:0.1034:0.3909	.	627	Q9UKY4	POMT2_HUMAN	T	627	ENSP00000261534:A627T	ENSP00000261534:A627T	A	-	1	0	POMT2	76815931	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	0.141000	0.16076	-0.123000	0.11745	-0.251000	0.11542	GCG		0.657	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		5	26	0	0	0	0	5	26				
NOXRED1	122945	broad.mit.edu	37	14	77872358	77872358	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77872358G>A	ENST00000380835.2	-	5	969	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	268					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AAAGTGCACGGAGAGAAAGAG	0.468																																						uc001xtr.2		NA																	0					0						c.(802-804)TCC>TTC		hypothetical protein LOC122945 isoform 1							95.0	83.0	87.0					14																	77872358		1568	3582	5150	SO:0001583	missense	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77872358G>A	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.803C>T	14.37:g.77872358G>A	ENSP00000370215:p.Ser268Phe						p.S268F	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	5	950	-			268					B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	c.803C>T	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248461	0.59103	.	.	ENSG00000165555	ENST00000380835	T	0.58506	0.33	5.66	4.77	0.60923	.	0.303088	0.30126	N	0.010345	T	0.67420	0.2891	L	0.54323	1.7	0.25904	N	0.983315	D	0.76494	0.999	D	0.64042	0.921	T	0.61436	-0.7063	10	0.72032	D	0.01	-4.4723	10.4446	0.44486	0.0899:0.0:0.9101:0.0	.	268	Q6NXP6	NXRD1_HUMAN	F	268	ENSP00000370215:S268F	ENSP00000370215:S268F	S	-	2	0	C14orf148	76942111	0.994000	0.37717	0.002000	0.10522	0.176000	0.22953	5.200000	0.65158	1.398000	0.46701	0.460000	0.39030	TCC		0.468	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		14	55	0	0	0	0	14	55				
NOXRED1	122945	broad.mit.edu	37	14	77889183	77889183	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77889183G>A	ENST00000380835.2	-	1	216	c.50C>T	c.(49-51)cCa>cTa	p.P17L	NOXRED1_ENST00000298358.3_Missense_Mutation_p.P17L	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	17					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						ATCTTCCTCTGGAACCCCATA	0.478																																						uc001xtr.2		NA																	0					0						c.(49-51)CCA>CTA		hypothetical protein LOC122945 isoform 1							127.0	132.0	130.0					14																	77889183		2203	4300	6503	SO:0001583	missense	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77889183G>A	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.50C>T	14.37:g.77889183G>A	ENSP00000370215:p.Pro17Leu					C14orf148_uc010tvi.1_Missense_Mutation_p.P17L	p.P17L	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	1	197	-			17					B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	c.50C>T	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630731	0.28978	.	.	ENSG00000165555	ENST00000380835;ENST00000298358;ENST00000555603	T;T;T	0.54866	0.57;0.55;0.58	5.99	-0.0641	0.13774	.	1.549040	0.03170	N	0.170586	T	0.34454	0.0898	N	0.14661	0.345	0.24219	N	0.995441	B;B	0.29805	0.257;0.091	B;B	0.21151	0.033;0.024	T	0.29274	-1.0017	10	0.45353	T	0.12	0.0179	7.7752	0.29033	0.0:0.2521:0.3108:0.4371	.	17;17	Q6NXP6-2;Q6NXP6	.;NXRD1_HUMAN	L	17	ENSP00000370215:P17L;ENSP00000298358:P17L;ENSP00000450597:P17L	ENSP00000298358:P17L	P	-	2	0	C14orf148	76958936	0.022000	0.18835	0.369000	0.25952	0.619000	0.37552	-0.020000	0.12525	0.301000	0.22738	-0.282000	0.10007	CCA		0.478	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		39	206	0	0	0	0	39	206				
ISM2	145501	broad.mit.edu	37	14	77950775	77950775	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77950775C>T	ENST00000342219.4	-	3	574	c.518G>A	c.(517-519)gGg>gAg	p.G173E	ISM2_ENST00000429906.1_Missense_Mutation_p.G92E|ISM2_ENST00000393684.3_Missense_Mutation_p.G85E|ISM2_ENST00000493585.1_Missense_Mutation_p.G173E|ISM2_ENST00000412904.1_Intron	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	173						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CGTGGCATTCCCTGGGGTCAG	0.602																																						uc001xtz.2		NA																	0				skin(1)	1						c.(517-519)GGG>GAG		isthmin 2 homolog isoform 1							113.0	102.0	106.0					14																	77950775		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77950775C>T	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.518G>A	14.37:g.77950775C>T	ENSP00000341490:p.Gly173Glu					ISM2_uc001xua.2_Missense_Mutation_p.G173E|ISM2_uc001xty.2_Missense_Mutation_p.G85E|ISM2_uc010tvl.1_Intron	p.G173E	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			3	592	-			173					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.518G>A	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530342	0.27387	.	.	ENSG00000100593	ENST00000342219;ENST00000429906;ENST00000393684;ENST00000493585;ENST00000554801	T;T;T;T	0.59638	1.96;1.98;2.32;0.25	2.83	-1.22	0.09494	.	2.108670	0.02562	N	0.096911	T	0.40670	0.1126	L	0.40543	1.245	0.09310	N	1	B;B	0.18013	0.025;0.005	B;B	0.16289	0.015;0.002	T	0.04347	-1.0958	10	0.09084	T	0.74	-1.7702	0.7008	0.00907	0.2256:0.294:0.2779:0.2025	.	173;173	Q6H9L7-2;Q6H9L7	.;ISM2_HUMAN	E	173;92;85;173;92	ENSP00000341490:G173E;ENSP00000395387:G92E;ENSP00000377289:G85E;ENSP00000420452:G173E	ENSP00000341490:G173E	G	-	2	0	ISM2	77020528	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-0.076000	0.11412	-0.179000	0.10654	0.306000	0.20318	GGG		0.602	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		14	102	0	0	0	0	14	102				
PTPN21	11099	broad.mit.edu	37	14	88938664	88938665	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:88938664_88938665GG>AA	ENST00000556564.1	-	15	3078_3079	c.2794_2795CC>TT	c.(2794-2796)CCt>TTt	p.P932F	PTPN21_ENST00000328736.3_Missense_Mutation_p.P932F	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	932	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCATCATAAGGAAGAACATCT	0.411																																						uc001xwv.3		NA																	0				ovary(3)|skin(1)	4						c.(2794-2796)CCT>TTT		protein tyrosine phosphatase, non-receptor type																																				SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88938664_88938665GG>AA	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2794_2795delinsAA	14.37:g.88938664_88938665delinsAA	ENSP00000452414:p.Pro932Phe					PTPN21_uc010twc.1_Missense_Mutation_p.P728F	p.P932F	NM_007039	NP_008970	Q16825	PTN21_HUMAN			15	3125_3126	-			932			Tyrosine-protein phosphatase.			Missense_Mutation	DNP	ENST00000556564.1	37	c.2794_2795CC>TT	CCDS9884.1																																																																																				0.411	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	64	0	0	0	0	8	64				
FOXN3	1112	broad.mit.edu	37	14	89878802	89878802	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:89878802G>A	ENST00000345097.4	-	2	135	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S	FOXN3_ENST00000557258.1_Missense_Mutation_p.P7S|FOXN3_ENST00000555353.1_Missense_Mutation_p.P7S|RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000261302.5_Missense_Mutation_p.P7S|RP11-33N16.3_ENST00000555070.1_RNA	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	7					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCTTACTGGGAGGCATGACT	0.512																																						uc001xxo.3		NA																	0				skin(2)|ovary(1)	3						c.(19-21)CCC>TCC		checkpoint suppressor 1 isoform 1							51.0	51.0	51.0					14																	89878802		2203	4298	6501	SO:0001583	missense	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89878802G>A		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.19C>T	14.37:g.89878802G>A	ENSP00000343288:p.Pro7Ser					FOXN3_uc001xxn.3_Missense_Mutation_p.P7S|FOXN3_uc010atk.2_Missense_Mutation_p.P7S|FOXN3_uc001xxp.2_Missense_Mutation_p.P7S	p.P7S	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN			2	156	-			7					Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	c.19C>T	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527416	0.64860	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353;ENST00000555855;ENST00000555034;ENST00000553904	T;T;T;T;D	0.96300	0.09;0.09;0.09;0.09;-3.97	5.54	4.65	0.58169	.	0.125415	0.56097	D	0.000040	D	0.95978	0.8690	M	0.79926	2.475	0.58432	D	0.999993	B;B	0.31968	0.349;0.167	B;B	0.33846	0.171;0.169	D	0.95361	0.8455	10	0.87932	D	0	.	15.3338	0.74234	0.0:0.1692:0.8308:0.0	.	7;7	O00409;O00409-2	FOXN3_HUMAN;.	S	7	ENSP00000343288:P7S;ENSP00000261302:P7S;ENSP00000452005:P7S;ENSP00000452227:P7S;ENSP00000451135:P7S	ENSP00000261302:P7S	P	-	1	0	FOXN3	88948555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.824000	0.86668	1.342000	0.45619	0.655000	0.94253	CCC		0.512	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		11	65	0	0	0	0	11	65				
KCNK13	56659	broad.mit.edu	37	14	90650550	90650550	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:90650550C>T	ENST00000282146.4	+	2	871	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	144					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GTTCTTCAACCTCTTCCTGGA	0.557																																						uc001xye.1		NA																	0				skin(1)	1						c.(430-432)CTC>TTC		potassium channel, subfamily K, member 13							104.0	110.0	108.0					14																	90650550		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650550C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.430C>T	14.37:g.90650550C>T	ENSP00000282146:p.Leu144Phe						p.L144F	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	872	+		all_cancers(154;0.186)	144			Helical; (Potential).		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.430C>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466925	0.84425	.	.	ENSG00000152315	ENST00000282146	T	0.25579	1.79	5.31	5.31	0.75309	Ion transport 2 (1);	0.000000	0.37219	N	0.002199	T	0.48519	0.1504	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.47446	-0.9117	10	0.10111	T	0.7	.	13.2852	0.60239	0.0:0.9235:0.0:0.0765	.	144	Q9HB14	KCNKD_HUMAN	F	144	ENSP00000282146:L144F	ENSP00000282146:L144F	L	+	1	0	KCNK13	89720303	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.949000	0.63596	2.476000	0.83614	0.655000	0.94253	CTC		0.557	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		20	110	0	0	0	0	20	110				
CCDC88C	440193	broad.mit.edu	37	14	91770131	91770132	+	Missense_Mutation	DNP	GG	GG	AA	rs369163210		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:91770131_91770132GG>AA	ENST00000389857.6	-	20	3634_3635	c.3548_3549CC>TT	c.(3547-3549)gCC>gTT	p.A1183V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1183					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCTCGTACTCGGCCGATTGCCG	0.639																																						uc010aty.2		NA																	0				ovary(3)	3						c.(3547-3549)GCC>GTT		DVL-binding protein DAPLE																																				SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91770131_91770132GG>AA		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3548_3549delinsAA	14.37:g.91770131_91770132delinsAA	ENSP00000374507:p.Ala1183Val						p.A1183V	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			20	3647_3648	-		all_cancers(154;0.0468)	1183			Potential.		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	DNP	ENST00000389857.6	37	c.3548_3549CC>TT	CCDS45151.1																																																																																				0.639	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		13	16	0	0	0	0	13	16				
CPSF2	53981	broad.mit.edu	37	14	92600677	92600677	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:92600677C>T	ENST00000298875.4	+	5	678	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	131					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AGCTAAAATTCTCTCAGATTG	0.333																																					Ovarian(78;28 1788 18702 44111)	uc001yah.1		NA																	0				ovary(2)	2						c.(391-393)TTC>TTT		cleavage and polyadenylation specific factor 2							65.0	62.0	63.0					14																	92600677		2202	4300	6502	SO:0001819	synonymous_variant	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92600677C>T	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.393C>T	14.37:g.92600677C>T							p.F131F	NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	5	630	+		all_cancers(154;0.0766)	131					B3KME1|Q6NSJ1|Q9H3W7	Silent	SNP	ENST00000298875.4	37	c.393C>T	CCDS9902.1																																																																																				0.333	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			6	35	0	0	0	0	6	35				
RIN3	79890	broad.mit.edu	37	14	93118295	93118295	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:93118295C>T	ENST00000216487.7	+	6	1060	c.901C>T	c.(901-903)Cct>Tct	p.P301S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	301	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ccctgtgctccctgctcttgc	0.731																																						uc001yap.2		NA																	0				lung(2)|ovary(1)	3						c.(901-903)CCT>TCT		Ras and Rab interactor 3							5.0	7.0	6.0					14																	93118295		2051	4003	6054	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118295C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.901C>T	14.37:g.93118295C>T	ENSP00000216487:p.Pro301Ser					RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.P226S|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	p.P301S	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			6	1053	+		all_cancers(154;0.0701)	301			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.901C>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	7.096	0.573114	0.13623	.	.	ENSG00000100599	ENST00000216487	T	0.06849	3.25	4.12	1.06	0.20224	.	0.996867	0.08121	N	0.994749	T	0.08133	0.0203	L	0.57536	1.79	0.09310	N	0.999996	B;B	0.15930	0.015;0.015	B;B	0.09377	0.004;0.004	T	0.47911	-0.9080	10	0.11182	T	0.66	-4.368	4.8475	0.13521	0.1377:0.5127:0.2683:0.0813	.	226;301	Q6ZRC2;Q8TB24	.;RIN3_HUMAN	S	301	ENSP00000216487:P301S	ENSP00000216487:P301S	P	+	1	0	RIN3	92188048	0.013000	0.17824	0.007000	0.13788	0.065000	0.16274	0.222000	0.17699	0.201000	0.20466	0.305000	0.20034	CCT		0.731	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			5	17	0	0	0	0	5	17				
ITPK1	3705	broad.mit.edu	37	14	93483065	93483065	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:93483065C>T	ENST00000267615.6	-	4	375	c.202G>A	c.(202-204)Gac>Aac	p.D68N	ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.D68N|ITPK1_ENST00000556603.2_Missense_Mutation_p.D68N			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	68					blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)	p.D68N(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TCATTCTGGTCGGCTTCAAGG	0.597																																						uc001ybg.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(202-204)GAC>AAC		inositol 1,3,4-triphosphate 5/6 kinase isoform							140.0	114.0	123.0					14																	93483065		2203	4300	6503	SO:0001583	missense	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93483065C>T	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.202G>A	14.37:g.93483065C>T	ENSP00000267615:p.Asp68Asn					ITPK1_uc001ybe.2_Missense_Mutation_p.D68N|ITPK1_uc001ybf.2_5'UTR|ITPK1_uc001ybh.2_Missense_Mutation_p.D68N	p.D68N	NM_014216	NP_055031	Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	4	491	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	68					Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.202G>A	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041227	0.75732	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000267615;ENST00000311458;ENST00000556185;ENST00000555553;ENST00000553452;ENST00000557309	.	.	.	5.1	5.1	0.69264	.	0.047097	0.85682	N	0.000000	T	0.78136	0.4236	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.87578	0.998;0.751	T	0.78674	-0.2112	9	0.48119	T	0.1	1.9287	18.137	0.89622	0.0:1.0:0.0:0.0	.	68;68	Q13572;Q13572-2	ITPK1_HUMAN;.	N	68;98;68;68;68;86;68;68;68	.	ENSP00000267615:D68N	D	-	1	0	ITPK1	92552818	1.000000	0.71417	0.936000	0.37596	0.913000	0.54294	7.125000	0.77193	2.345000	0.79718	0.561000	0.74099	GAC		0.597	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		9	61	0	0	0	0	9	61				
UNC79	57578	broad.mit.edu	37	14	94004455	94004455	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94004455G>A	ENST00000393151.2	+	12	1243	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	UNC79_ENST00000553484.1_Missense_Mutation_p.E415K|UNC79_ENST00000256339.4_Missense_Mutation_p.E238K|UNC79_ENST00000555664.1_Missense_Mutation_p.E415K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	415					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCACAGTAATGAAGTGGGGGC	0.592																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(712-714)GAA>AAA		hypothetical protein LOC57578							62.0	59.0	60.0					14																	94004455		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94004455G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1243G>A	14.37:g.94004455G>A	ENSP00000376858:p.Glu415Lys					KIAA1409_uc001ybs.1_Missense_Mutation_p.E238K|KIAA1409_uc001ybu.1_Missense_Mutation_p.E176K	p.E238K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	9	795	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	415					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.712G>A		.	.	.	.	.	.	.	.	.	.	G	27.2	4.807174	0.90623	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.6	5.6	0.85130	.	0.056181	0.64402	D	0.000002	T	0.36771	0.0979	L	0.43152	1.355	0.58432	D	0.999994	D;D	0.61697	0.99;0.974	D;D	0.72982	0.979;0.969	T	0.01004	-1.1484	10	0.46703	T	0.11	-14.0346	19.9698	0.97280	0.0:0.0:1.0:0.0	.	415;415	C9JQL1;Q9P2D8	.;UNC79_HUMAN	K	238;415;415;415;415	ENSP00000256339:E238K;ENSP00000450868:E415K;ENSP00000451360:E415K;ENSP00000376858:E415K	ENSP00000256339:E238K	E	+	1	0	KIAA1409	93074208	1.000000	0.71417	0.761000	0.31378	0.964000	0.63967	9.495000	0.97964	2.786000	0.95864	0.561000	0.74099	GAA		0.592	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		18	49	0	0	0	0	18	49				
UNC79	57578	broad.mit.edu	37	14	94041487	94041487	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94041487G>A	ENST00000393151.2	+	17	2154	c.2154G>A	c.(2152-2154)ctG>ctA	p.L718L	UNC79_ENST00000553484.1_Silent_p.L718L|UNC79_ENST00000256339.4_Silent_p.L541L|UNC79_ENST00000555664.1_Silent_p.L718L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	718					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAAAGAGCTGGCAAATCAAA	0.368																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(1621-1623)CTG>CTA		hypothetical protein LOC57578							123.0	122.0	122.0					14																	94041487		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94041487G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2154G>A	14.37:g.94041487G>A						KIAA1409_uc001ybs.1_Silent_p.L541L	p.L541L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	14	1706	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	718					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.1623G>A																																																																																					0.368	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		23	30	0	0	0	0	23	30				
UNC79	57578	broad.mit.edu	37	14	94149038	94149038	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94149038G>A	ENST00000393151.2	+	43	6934	c.6934G>A	c.(6934-6936)Gga>Aga	p.G2312R	UNC79_ENST00000553484.1_Missense_Mutation_p.G2334R|UNC79_ENST00000256339.4_Missense_Mutation_p.G2135R|UNC79_ENST00000555664.1_Missense_Mutation_p.G2273R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2312					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCTGTACCTGGAGTAAGTCC	0.383																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(6469-6471)GGA>AGA		hypothetical protein LOC57578							100.0	87.0	91.0					14																	94149038		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94149038G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6934G>A	14.37:g.94149038G>A	ENSP00000376858:p.Gly2312Arg					KIAA1409_uc001ybs.1_Missense_Mutation_p.G2135R	p.G2157R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	41	6552	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2312					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6469G>A		.	.	.	.	.	.	.	.	.	.	G	16.42	3.117614	0.56505	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18810	2.19;2.22;2.19;2.19	5.36	5.36	0.76844	.	0.051116	0.85682	D	0.000000	T	0.22044	0.0531	L	0.43152	1.355	0.53005	D	0.999961	B	0.09022	0.002	B	0.10450	0.005	T	0.03403	-1.1040	10	0.24483	T	0.36	-16.2836	19.0853	0.93201	0.0:0.0:1.0:0.0	.	2334	C9JQL1	.	R	2135;2273;2334;2312;2334	ENSP00000256339:G2135R;ENSP00000450868:G2273R;ENSP00000451360:G2334R;ENSP00000376858:G2312R	ENSP00000256339:G2135R	G	+	1	0	KIAA1409	93218791	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.807000	0.91935	2.475000	0.83589	0.655000	0.94253	GGA		0.383	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		14	39	0	0	0	0	14	39				
PRIMA1	145270	broad.mit.edu	37	14	94245575	94245576	+	Missense_Mutation	DNP	GG	GG	AA	rs550883370		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94245575_94245576GG>AA	ENST00000393140.1	-	3	277_278	c.175_176CC>TT	c.(175-177)CCg>TTg	p.P59L	PRIMA1_ENST00000316227.3_Missense_Mutation_p.P59L|PRIMA1_ENST00000393143.1_Missense_Mutation_p.P59L	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	59	PRAD.				establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		cgggggcagcgggggagggggc	0.634																																						uc001ybw.1		NA																	0				large_intestine(1)|skin(1)	2						c.(175-177)CCG>TTG		proline rich membrane anchor 1 precursor																																				SO:0001583	missense	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94245575_94245576GG>AA		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.175_176delinsAA	14.37:g.94245575_94245576delinsAA	ENSP00000376848:p.Pro59Leu					PRIMA1_uc001ybx.1_RNA	p.P59L	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	3	217_218	-		all_cancers(154;0.127)	59			PRAD.|Extracellular (Potential).		Q86XR6	Missense_Mutation	DNP	ENST00000393140.1	37	c.175_176CC>TT	CCDS9912.1																																																																																				0.634	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		3	10	0	0	0	0	3	10				
FAM181A	90050	broad.mit.edu	37	14	94395247	94395247	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94395247G>A	ENST00000267594.5	+	3	1109	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Missense_Mutation_p.G206S|FAM181A_ENST00000557719.1_Missense_Mutation_p.G206S|FAM181A_ENST00000556222.1_Missense_Mutation_p.G206S	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	268										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CTCCTTGGTGGGCCGCGTCAA	0.647																																						uc001ybz.1		NA																	0					0						c.(802-804)GGC>AGC		hypothetical protein LOC90050							52.0	50.0	51.0					14																	94395247		2203	4300	6503	SO:0001583	missense	90050							g.chr14:94395247G>A	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.802G>A	14.37:g.94395247G>A	ENSP00000267594:p.Gly268Ser					C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.G206S|FAM181A_uc001yca.1_Missense_Mutation_p.G206S	p.G268S	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN			3	1109	+			268					B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	c.802G>A	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455699	0.43634	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.74	3.84	0.44239	.	0.195003	0.32901	N	0.005504	T	0.25306	0.0615	L	0.51422	1.61	0.35100	D	0.765193	P	0.42518	0.782	B	0.37650	0.255	T	0.31861	-0.9928	10	0.20046	T	0.44	-13.55	12.2791	0.54753	0.0821:0.0:0.9179:0.0	.	268	Q8N9Y4	F181A_HUMAN	S	206;268;206;206;257	ENSP00000451802:G206S;ENSP00000267594:G268S;ENSP00000451678:G206S;ENSP00000452393:G206S	ENSP00000267594:G268S	G	+	1	0	FAM181A	93465000	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	3.965000	0.56788	2.196000	0.70406	0.561000	0.74099	GGC		0.647	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		7	41	0	0	0	0	7	41				
SERPINA4	5267	broad.mit.edu	37	14	95030212	95030212	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:95030212C>T	ENST00000557004.1	+	2	814	c.393C>T	c.(391-393)ccC>ccT	p.P131P	SERPINA4_ENST00000298841.5_Silent_p.P131P|SERPINA4_ENST00000555095.1_Silent_p.P131P|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	131					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P131P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCAACCTCCCCGGCCATGGGC	0.582																																						uc001ydk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(391-393)CCC>CCT		serine (or cysteine) proteinase inhibitor, clade							84.0	80.0	81.0					14																	95030212		2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95030212C>T	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.393C>T	14.37:g.95030212C>T						SERPINA4_uc010avd.2_Silent_p.P168P|SERPINA4_uc001ydl.2_Silent_p.P131P	p.P131P	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	459	+			131					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.393C>T	CCDS9927.1																																																																																				0.582	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		13	84	0	0	0	0	13	84				
SERPINA5	5104	broad.mit.edu	37	14	95053761	95053761	+	Missense_Mutation	SNP	G	G	A	rs373776543		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:95053761G>A	ENST00000554866.1	+	2	176	c.62G>A	c.(61-63)cGc>cAc	p.R21H	SERPINA5_ENST00000329597.7_Missense_Mutation_p.R21H|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R21H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R21H			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	21					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCCCTTCACCGCCACCACCCC	0.587																																						uc001ydm.2		NA																	0				ovary(2)	2						c.(61-63)CGC>CAC		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	G	HIS/ARG	0,4406		0,0,2203	60.0	66.0	64.0		62	-1.8	0.0	14		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINA5	NM_000624.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	21/407	95053761	1,13005	2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95053761G>A	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.62G>A	14.37:g.95053761G>A	ENSP00000451126:p.Arg21His					SERPINA5_uc010ave.2_Missense_Mutation_p.R21H|SERPINA5_uc001ydn.1_Missense_Mutation_p.R21H	p.R21H	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	272	+			21					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.62G>A	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662415	0.29515	0.0	1.16E-4	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000553511;ENST00000554506;ENST00000554633;ENST00000555681;ENST00000438291;ENST00000554276;ENST00000557598;ENST00000556064	D;D;D;D;D;T;T;T;T;D;T	0.87491	-1.6;-1.6;-2.26;-1.6;-1.6;-0.85;-0.85;-0.85;-0.85;-1.6;-0.85	4.63	-1.8	0.07907	Serpin domain (1);	0.813056	0.10575	N	0.658696	T	0.70491	0.3230	N	0.08118	0	0.09310	N	1	B;B	0.25719	0.064;0.132	B;B	0.14023	0.003;0.01	T	0.57551	-0.7792	10	0.44086	T	0.13	.	8.7132	0.34395	0.6949:0.0:0.3051:0.0	.	21;21	G3V5Q9;P05154	.;IPSP_HUMAN	H	21	ENSP00000450484:R21H;ENSP00000450837:R21H;ENSP00000452469:R21H;ENSP00000451126:R21H;ENSP00000333203:R21H;ENSP00000450745:R21H;ENSP00000451215:R21H;ENSP00000451697:R21H;ENSP00000451650:R21H;ENSP00000451610:R21H;ENSP00000450485:R21H	ENSP00000333203:R21H	R	+	2	0	SERPINA5	94123514	0.000000	0.05858	0.002000	0.10522	0.041000	0.13682	0.003000	0.13083	-0.163000	0.10946	0.561000	0.74099	CGC		0.587	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		20	111	0	0	0	0	20	111				
TCL1B	9623	broad.mit.edu	37	14	96152888	96152888	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96152888G>A	ENST00000340722.7	+	1	135	c.84G>A	c.(82-84)gaG>gaA	p.E28E	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	28										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		AAGATGAGGAGGGGAGAACCT	0.642																																						uc001yez.2		NA																	0				ovary(1)	1						c.(82-84)GAG>GAA		T-cell leukemia/lymphoma 1B							101.0	94.0	97.0					14																	96152888		2203	4300	6503	SO:0001819	synonymous_variant	9623							g.chr14:96152888G>A	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.84G>A	14.37:g.96152888G>A						TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Silent_p.E28E	p.E28E	NM_004918	NP_004909	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	1	126	+		all_cancers(154;0.103)	28					A6NEK7|Q6IAR7|Q9UBQ4	Silent	SNP	ENST00000340722.7	37	c.84G>A	CCDS32151.1																																																																																				0.642	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			11	51	0	0	0	0	11	51				
BDKRB2	624	broad.mit.edu	37	14	96707406	96707406	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96707406C>T	ENST00000306005.3	+	3	937	c.741C>T	c.(739-741)atC>atT	p.I247I	BDKRB2_ENST00000554311.1_Silent_p.I247I|BDKRB2_ENST00000542454.2_Silent_p.I220I|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.I220I	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	247					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CGATGCAGATCATGCAGGTGC	0.547																																						uc010avm.1		NA																	0				ovary(3)|breast(1)|kidney(1)	5						c.(739-741)ATC>ATT		bradykinin receptor B2							104.0	86.0	92.0					14																	96707406		2203	4300	6503	SO:0001819	synonymous_variant	624				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96707406C>T	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.741C>T	14.37:g.96707406C>T						BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.I220I|BDKRB2_uc001yfg.2_Silent_p.I247I	p.I247I	NM_000623	NP_000614	P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	937	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	247			Helical; Name=5; (Potential).			Silent	SNP	ENST00000306005.3	37	c.741C>T	CCDS9942.1																																																																																				0.547	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			15	26	0	0	0	0	15	26				
BDKRB1	623	broad.mit.edu	37	14	96730397	96730397	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96730397C>T	ENST00000216629.6	+	3	984	c.378C>T	c.(376-378)ttC>ttT	p.F126F	BDKRB1_ENST00000553356.1_Silent_p.F126F|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	126					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TCAGCATCTTCCTGGTGGTGG	0.622																																						uc001yfh.2		NA																	0				ovary(3)	3						c.(376-378)TTC>TTT		bradykinin receptor B1							72.0	70.0	71.0					14																	96730397		2203	4300	6503	SO:0001819	synonymous_variant	623				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730397C>T	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.378C>T	14.37:g.96730397C>T						BDKRB1_uc010avn.2_Silent_p.F126F	p.F126F	NM_000710	NP_000701	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	586	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	126			Helical; Name=3; (Potential).		A8K7F5|Q546S7|Q8N0Y8	Silent	SNP	ENST00000216629.6	37	c.378C>T	CCDS9943.1																																																																																				0.622	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			25	88	0	0	0	0	25	88				
AK7	122481	broad.mit.edu	37	14	96875277	96875277	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96875277C>T	ENST00000267584.4	+	4	541	c.497C>T	c.(496-498)cCc>cTc	p.P166L	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	166					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GCCCTGGACCCCGTAAGTAGA	0.478																																						uc001yfn.2		NA																	0				ovary(1)	1						c.(496-498)CCC>CTC		adenylate kinase 7							70.0	68.0	69.0					14																	96875277		2203	4300	6503	SO:0001630	splice_region_variant	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96875277C>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.498+1C>T	14.37:g.96875277C>T							p.P166L	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	4	541	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	166			Potential.		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.497C>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450611	0.43531	.	.	ENSG00000140057	ENST00000267584	T	0.71341	-0.56	5.1	4.21	0.49690	NAD(P)-binding domain (1);	0.229868	0.45867	D	0.000337	T	0.68348	0.2991	M	0.72353	2.195	0.80722	D	1	P	0.34743	0.466	B	0.36666	0.23	T	0.66752	-0.5844	10	0.35671	T	0.21	-5.1331	10.6751	0.45781	0.0:0.9092:0.0:0.0908	.	166	Q96M32	KAD7_HUMAN	L	166	ENSP00000267584:P166L	ENSP00000267584:P166L	P	+	2	0	AK7	95945030	0.986000	0.35501	0.678000	0.29963	0.731000	0.41821	3.430000	0.52807	1.280000	0.44463	0.655000	0.94253	CCC		0.478	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		Missense_Mutation	17	48	0	0	0	0	17	48				
EML1	2009	broad.mit.edu	37	14	100402648	100402648	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:100402648C>T	ENST00000262233.6	+	19	2211	c.2072C>T	c.(2071-2073)tCc>tTc	p.S691F	EML1_ENST00000327921.9_Missense_Mutation_p.S679F|EML1_ENST00000334192.4_Missense_Mutation_p.S710F	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	691	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GTGTCAAATTCCGGAGACTAC	0.502																																						uc001ygs.2		NA																	0				large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.(2071-2073)TCC>TTC		echinoderm microtubule associated protein like 1							101.0	82.0	89.0					14																	100402648		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100402648C>T	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2072C>T	14.37:g.100402648C>T	ENSP00000262233:p.Ser691Phe					EML1_uc010tww.1_Missense_Mutation_p.S679F|EML1_uc001ygr.2_Missense_Mutation_p.S710F	p.S691F	NM_004434	NP_004425	O00423	EMAL1_HUMAN			19	2141	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	691			WD 9.		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.2072C>T	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581184	0.86748	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.74526	-0.85;-0.85;-0.85	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88190	0.6370	M	0.93016	3.37	0.80722	D	1	D;D;D	0.63880	0.983;0.993;0.983	P;P;P	0.59703	0.851;0.839;0.862	D	0.91240	0.5021	10	0.87932	D	0	-20.7857	17.709	0.88316	0.0:1.0:0.0:0.0	.	679;691;710	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	F	679;691;710;710	ENSP00000327384:S679F;ENSP00000262233:S691F;ENSP00000334314:S710F	ENSP00000262233:S691F	S	+	2	0	EML1	99472401	1.000000	0.71417	0.500000	0.27589	0.985000	0.73830	7.624000	0.83124	2.429000	0.82318	0.561000	0.74099	TCC		0.502	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		26	39	0	0	0	0	26	39				
SLC25A47	283600	broad.mit.edu	37	14	100795147	100795147	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:100795147G>A	ENST00000361529.3	+	5	490	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	138					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GCGGCTTTCGGCCTCGGGGCC	0.682																																					GBM(11;1289 1351)	uc001yhc.2		NA																	0					0						c.(412-414)GCC>ACC		chromosome 14 open reading frame 68							19.0	21.0	20.0					14																	100795147		2175	4234	6409	SO:0001583	missense	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100795147G>A		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.412G>A	14.37:g.100795147G>A	ENSP00000354886:p.Ala138Thr					C14orf68_uc001yhd.2_5'UTR	p.A138T	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			5	485	+		Melanoma(154;0.152)	138			Solcar 2.		B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	c.412G>A	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	G	7.528	0.658160	0.14645	.	.	ENSG00000140107	ENST00000361529	D	0.81996	-1.56	4.89	2.67	0.31697	Mitochondrial carrier domain (2);	1.024840	0.07864	U	0.966842	T	0.71264	0.3319	N	0.19112	0.55	0.19575	N	0.999961	B	0.06786	0.001	B	0.06405	0.002	T	0.57394	-0.7819	10	0.33141	T	0.24	-13.7309	8.5263	0.33307	0.3704:0.0:0.6296:0.0	.	138	Q6Q0C1	S2547_HUMAN	T	138	ENSP00000354886:A138T	ENSP00000354886:A138T	A	+	1	0	SLC25A47	99864900	0.011000	0.17503	0.833000	0.33012	0.102000	0.19082	1.506000	0.35747	1.062000	0.40625	0.491000	0.48974	GCC		0.682	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			15	20	0	0	0	0	15	20				
DLK1	8788	broad.mit.edu	37	14	101200538	101200538	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:101200538C>T	ENST00000341267.4	+	5	699	c.457C>T	c.(457-459)Cat>Tat	p.H153Y	DLK1_ENST00000331224.6_Missense_Mutation_p.H153Y	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	153	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCGGGCCTCCCATGCCTCCTG	0.637																																						uc001yhs.3		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(457-459)CAT>TAT		delta-like 1 homolog precursor							54.0	53.0	53.0					14																	101200538		2201	4300	6501	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200538C>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.457C>T	14.37:g.101200538C>T	ENSP00000340292:p.His153Tyr					DLK1_uc001yhu.3_Missense_Mutation_p.H153Y	p.H153Y	NM_003836	NP_003827	P80370	DLK1_HUMAN			5	610	+		Melanoma(154;0.155)	153			Extracellular (Potential).|EGF-like 4.		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.457C>T	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	C	8.068	0.769523	0.15983	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	D;D	0.92446	-3.04;-3.04	4.16	3.0	0.34707	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.224675	0.38005	N	0.001857	T	0.76076	0.3937	N	0.02420	-0.555	0.80722	D	1	P;B	0.37500	0.597;0.015	B;B	0.31869	0.137;0.015	T	0.77643	-0.2511	10	0.41790	T	0.15	.	8.7732	0.34745	0.0:0.7926:0.0:0.2074	.	153;153	P80370-2;P80370	.;DLK1_HUMAN	Y	153	ENSP00000340292:H153Y;ENSP00000331081:H153Y	ENSP00000331081:H153Y	H	+	1	0	DLK1	100270291	0.070000	0.21116	0.998000	0.56505	0.902000	0.53008	0.889000	0.28282	1.861000	0.53984	0.491000	0.48974	CAT		0.637	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			18	74	0	0	0	0	18	74				
WDR20	91833	broad.mit.edu	37	14	102675278	102675278	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:102675278G>T	ENST00000342702.3	+	3	802	c.771G>T	c.(769-771)acG>acT	p.T257T	WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556807.1_Silent_p.T196T|WDR20_ENST00000556511.2_Silent_p.T196T|WDR20_ENST00000454394.2_Silent_p.T288T|WDR20_ENST00000545563.1_Silent_p.T84T|WDR20_ENST00000335263.5_Silent_p.T257T|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000424963.2_Silent_p.T133T	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	257										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGCACGGTACGATGAAAAGCT	0.557																																						uc001ykz.2		NA																	0					0						c.(769-771)ACG>ACT		WD repeat domain 20 isoform 2							76.0	64.0	68.0					14																	102675278		2203	4300	6503	SO:0001819	synonymous_variant	91833							g.chr14:102675278G>T	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.771G>T	14.37:g.102675278G>T						WDR20_uc001yky.1_5'UTR|WDR20_uc001yla.2_Silent_p.T133T|WDR20_uc001ylb.2_Silent_p.T196T|WDR20_uc010txu.1_Silent_p.T288T|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Silent_p.T257T|WDR20_uc001yle.2_Silent_p.T196T|WDR20_uc001ylf.2_Silent_p.T269T	p.T257T	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN			3	820	+			257			WD 2.		B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	ENST00000342702.3	37	c.771G>T	CCDS9969.1	.	.	.	.	.	.	.	.	.	.	G	4.755	0.140374	0.09083	.	.	ENSG00000140153	ENST00000556511	.	.	.	5.83	-5.71	0.02413	.	.	.	.	.	T	0.53932	0.1827	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57406	-0.7817	4	.	.	.	.	11.4298	0.50034	0.3075:0.5987:0.0938:0.0	.	.	.	.	Y	188	.	.	D	+	1	0	WDR20	101745031	0.974000	0.33945	0.897000	0.35233	0.996000	0.88848	0.219000	0.17641	-0.885000	0.03971	-0.140000	0.14226	GAT		0.557	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		34	39	1	0	2.47e-13	2.55e-13	34	39				
EXOC3L4	91828	broad.mit.edu	37	14	103566784	103566784	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:103566784C>T	ENST00000380069.3	+	1	304	c.228C>T	c.(226-228)ttC>ttT	p.F76F	RP11-736N17.8_ENST00000559843.1_RNA	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	76					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CGGGCCTGTTCCGGCGAAGCT	0.677																																						uc001ymk.2		NA																	0					0						c.(226-228)TTC>TTT		hypothetical protein LOC91828							24.0	26.0	25.0					14																	103566784		2203	4300	6503	SO:0001819	synonymous_variant	91828							g.chr14:103566784C>T	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.228C>T	14.37:g.103566784C>T							p.F76F	NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Epithelial(46;0.221)		1	304	+		Melanoma(154;0.155)	76					Q14CR2	Silent	SNP	ENST00000380069.3	37	c.228C>T	CCDS32163.1																																																																																				0.677	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		3	22	0	0	0	0	3	22				
AHNAK2	113146	broad.mit.edu	37	14	105408933	105408933	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105408933G>A	ENST00000333244.5	-	7	12974	c.12855C>T	c.(12853-12855)tcC>tcT	p.S4285S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4285						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCGGCTAGGGACAGGTCAC	0.612																																						uc010axc.1		NA																	0				ovary(1)	1						c.(12853-12855)TCC>TCT		AHNAK nucleoprotein 2							190.0	205.0	200.0					14																	105408933		2026	4157	6183	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105408933G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12855C>T	14.37:g.105408933G>A						AHNAK2_uc001ypx.2_Silent_p.S4185S	p.S4285S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12975	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4285					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12855C>T	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		128	257	0	0	0	0	128	257				
AHNAK2	113146	broad.mit.edu	37	14	105414531	105414532	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105414531_105414532GG>AA	ENST00000333244.5	-	7	7375_7376	c.7256_7257CC>TT	c.(7255-7257)cCC>cTT	p.P2419L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2419						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTATCTGGGGGCCCTTGAG	0.639																																						uc010axc.1		NA																	0				ovary(1)	1						c.(7255-7257)CCC>CTT		AHNAK nucleoprotein 2																																				SO:0001583	missense	113146					nucleus		g.chr14:105414531_105414532GG>AA	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7256_7257delinsAA	14.37:g.105414531_105414532delinsAA	ENSP00000353114:p.Pro2419Leu					AHNAK2_uc001ypx.2_Missense_Mutation_p.P2319L	p.P2419L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7376_7377	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2419					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	DNP	ENST00000333244.5	37	c.7256_7257CC>TT	CCDS45177.1																																																																																				0.639	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		61	272	0	0	0	0	61	272				
AHNAK2	113146	broad.mit.edu	37	14	105417195	105417195	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105417195G>A	ENST00000333244.5	-	7	4712	c.4593C>T	c.(4591-4593)tcC>tcT	p.S1531S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1531						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGGC	0.642																																						uc010axc.1		NA																	0				ovary(1)	1						c.(4591-4593)TCC>TCT		AHNAK nucleoprotein 2							128.0	106.0	113.0					14																	105417195		1951	4068	6019	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105417195G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4593C>T	14.37:g.105417195G>A						AHNAK2_uc001ypx.2_Silent_p.S1431S	p.S1531S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4713	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1531					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.4593C>T	CCDS45177.1																																																																																				0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		19	197	0	0	0	0	19	197				
AHNAK2	113146	broad.mit.edu	37	14	105418185	105418185	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105418185G>A	ENST00000333244.5	-	7	3722	c.3603C>T	c.(3601-3603)tcC>tcT	p.S1201S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1201						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGAC	0.642																																						uc010axc.1		NA																	0				ovary(1)	1						c.(3601-3603)TCC>TCT		AHNAK nucleoprotein 2							125.0	106.0	112.0					14																	105418185		1947	4109	6056	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418185G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3603C>T	14.37:g.105418185G>A						AHNAK2_uc001ypx.2_Silent_p.S1101S	p.S1201S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3723	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1201					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.3603C>T	CCDS45177.1																																																																																				0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	191	0	0	0	0	9	191				
OR4M2	390538	broad.mit.edu	37	15	22368758	22368758	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:22368758C>T	ENST00000332663.2	+	1	281	c.183C>T	c.(181-183)ttC>ttT	p.F61F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTATGTATTTCCTGTTGGCTA	0.388																																						uc010tzu.1		NA																	0				ovary(1)	1						c.(181-183)TTC>TTT		olfactory receptor, family 4, subfamily M,							493.0	428.0	450.0					15																	22368758		2203	4300	6503	SO:0001819	synonymous_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368758C>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.183C>T	15.37:g.22368758C>T						LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.F61F	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	183	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	61			Helical; Name=2; (Potential).		B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	37	c.183C>T	CCDS32172.1																																																																																				0.388	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			131	446	0	0	0	0	131	446				
MAGEL2	54551	broad.mit.edu	37	15	23889933	23889933	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:23889933C>T	ENST00000532292.1	-	1	1242	c.1148G>A	c.(1147-1149)gGg>gAg	p.G383E		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	266	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGAGAGCTCCCTGGGCTTTC	0.642																																						uc001ywj.3		NA																	0					0						c.(1147-1149)GGG>GAG		MAGE-like protein 2							31.0	32.0	31.0					15																	23889933		1897	4120	6017	SO:0001583	missense	54551							g.chr15:23889933C>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1148G>A	15.37:g.23889933C>T	ENSP00000433433:p.Gly383Glu						p.G383E	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1243	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1148G>A		.	.	.	.	.	.	.	.	.	.	C	0.437	-0.900446	0.02472	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.76	0.795	0.18643	.	.	.	.	.	T	0.24198	0.0586	L	0.40543	1.245	0.09310	N	1	.	.	.	.	.	.	T	0.26258	-1.0108	6	0.14656	T	0.56	.	3.2483	0.06804	0.2174:0.5646:0.0:0.218	.	.	.	.	R	415	.	ENSP00000433433:G415R	G	-	1	0	MAGEL2	21441026	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.643000	0.24750	0.178000	0.19917	0.655000	0.94253	GGA		0.642	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		8	23	0	0	0	0	8	23				
NPAP1	23742	broad.mit.edu	37	15	24922239	24922239	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:24922239G>A	ENST00000329468.2	+	1	1699	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	409	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCAGACCACAGACTCCCTGCC	0.542																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1225-1227)GAC>AAC		hypothetical protein LOC23742							80.0	80.0	80.0					15																	24922239		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922239G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1225G>A	15.37:g.24922239G>A	ENSP00000333735:p.Asp409Asn						p.D409N	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1699	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	409			Pro-rich.			Missense_Mutation	SNP	ENST00000329468.2	37	c.1225G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	4.339	0.062310	0.08388	.	.	ENSG00000185823	ENST00000329468	T	0.07114	3.22	1.78	-0.476	0.12100	.	2.503210	0.01512	N	0.017964	T	0.07908	0.0198	L	0.38175	1.15	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.34004	-0.9846	10	0.39692	T	0.17	.	4.0746	0.09897	0.4901:0.0:0.5099:0.0	.	409	Q9NZP6	CO002_HUMAN	N	409	ENSP00000333735:D409N	ENSP00000333735:D409N	D	+	1	0	C15orf2	22473332	0.016000	0.18221	0.000000	0.03702	0.075000	0.17131	1.287000	0.33284	-0.117000	0.11872	0.313000	0.20887	GAC		0.542	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		11	65	0	0	0	0	11	65				
NPAP1	23742	broad.mit.edu	37	15	24922337	24922337	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:24922337C>T	ENST00000329468.2	+	1	1797	c.1323C>T	c.(1321-1323)atC>atT	p.I441I		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	441	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCCTGCCTATCCCTCCACTTT	0.532																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1321-1323)ATC>ATT		hypothetical protein LOC23742							146.0	132.0	137.0					15																	24922337		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922337C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1323C>T	15.37:g.24922337C>T							p.I441I	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1797	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	441			Pro-rich.			Silent	SNP	ENST00000329468.2	37	c.1323C>T	CCDS10015.1																																																																																				0.532	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		18	75	0	0	0	0	18	75				
NPAP1	23742	broad.mit.edu	37	15	24922353	24922353	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:24922353A>C	ENST00000329468.2	+	1	1813	c.1339A>C	c.(1339-1341)Aca>Cca	p.T447P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	447	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ACTTTCCACCACACCAAAAAT	0.502																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1339-1341)ACA>CCA		hypothetical protein LOC23742							163.0	147.0	153.0					15																	24922353		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922353A>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1339A>C	15.37:g.24922353A>C	ENSP00000333735:p.Thr447Pro						p.T447P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1813	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	447			Pro-rich.			Missense_Mutation	SNP	ENST00000329468.2	37	c.1339A>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.18	2.161627	0.38119	.	.	ENSG00000185823	ENST00000329468	T	0.09445	2.98	1.76	-0.956	0.10353	.	1.367040	0.05054	N	0.478612	T	0.07007	0.0178	L	0.34521	1.04	0.09310	N	1	P	0.34587	0.458	B	0.31101	0.124	T	0.32929	-0.9888	10	0.25106	T	0.35	.	2.3798	0.04351	0.4991:0.3023:0.1986:0.0	.	447	Q9NZP6	CO002_HUMAN	P	447	ENSP00000333735:T447P	ENSP00000333735:T447P	T	+	1	0	C15orf2	22473446	0.000000	0.05858	0.000000	0.03702	0.370000	0.29829	0.260000	0.18424	-0.237000	0.09739	0.260000	0.18958	ACA		0.502	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		15	95	0	0	0	0	15	95				
ATP10A	57194	broad.mit.edu	37	15	25925040	25925041	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25925040_25925041CC>TT	ENST00000356865.6	-	21	4058_4059	c.3947_3948GG>AA	c.(3946-3948)aGG>aAA	p.R1316K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1316					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CACTGCATCTCCTGGGGGACTT	0.54																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(3946-3948)AGG>AAA		ATPase, class V, type 10A																																				SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925040_25925041CC>TT	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3947_3948delinsTT	15.37:g.25925040_25925041delinsTT	ENSP00000349325:p.Arg1316Lys						p.R1316K	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4053_4054	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1316			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	DNP	ENST00000356865.6	37	c.3947_3948GG>AA	CCDS32178.1																																																																																				0.540	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		13	101	0	0	0	0	13	101				
ATP10A	57194	broad.mit.edu	37	15	25953190	25953191	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25953190_25953191GG>AA	ENST00000356865.6	-	12	2618_2619	c.2507_2508CC>TT	c.(2506-2508)tCC>tTT	p.S836F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	836					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTTTTCCAGGGAGGATTCGGC	0.525																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2506-2508)TCC>TTT		ATPase, class V, type 10A																																				SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953190_25953191GG>AA	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2507_2508delinsAA	15.37:g.25953190_25953191delinsAA	ENSP00000349325:p.Ser836Phe						p.S836F	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	12	2613_2614	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	836			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	DNP	ENST00000356865.6	37	c.2507_2508CC>TT	CCDS32178.1																																																																																				0.525	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		20	47	0	0	0	0	20	47				
GABRB3	2562	broad.mit.edu	37	15	26806283	26806283	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:26806283G>T	ENST00000311550.5	-	8	987	c.876C>A	c.(874-876)caC>caA	p.H292Q	GABRB3_ENST00000541819.2_Missense_Mutation_p.H348Q|GABRB3_ENST00000400188.3_Missense_Mutation_p.H221Q|GABRB3_ENST00000299267.4_Missense_Mutation_p.H292Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.H207Q	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	292	Allosteric effector binding.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.H292Q(2)|p.H348Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTCCCGAAGGTGGGTGTTGA	0.473																																						uc001zaz.2		NA																	3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(874-876)CAC>CAA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						182.0	168.0	173.0					15																	26806283		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806283G>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.876C>A	15.37:g.26806283G>T	ENSP00000308725:p.His292Gln					GABRB3_uc010uae.1_Missense_Mutation_p.H207Q|GABRB3_uc001zba.2_Missense_Mutation_p.H292Q|GABRB3_uc001zbb.2_Missense_Mutation_p.H348Q	p.H292Q	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1018	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	292			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.876C>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064177	0.55432	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98	5.19	2.32	0.28847	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.089468	0.85682	D	0.000000	D	0.87128	0.6100	L	0.47016	1.485	0.58432	D	0.999992	D;D;D	0.71674	0.998;0.995;0.996	D;D;D	0.70487	0.964;0.947;0.969	D	0.83630	0.0144	10	0.44086	T	0.13	.	8.6422	0.33983	0.3801:0.0:0.6199:0.0	.	348;292;292	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	Q	292;348;292;221;207	ENSP00000308725:H292Q;ENSP00000442408:H348Q;ENSP00000299267:H292Q;ENSP00000383049:H221Q;ENSP00000439169:H207Q	ENSP00000299267:H292Q	H	-	3	2	GABRB3	24357376	0.992000	0.36948	0.971000	0.41717	0.913000	0.54294	0.386000	0.20702	0.221000	0.20879	-0.140000	0.14226	CAC		0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			22	125	1	0	3.88e-16	4.02e-16	22	125				
OCA2	4948	broad.mit.edu	37	15	28116344	28116344	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:28116344G>A	ENST00000354638.3	-	21	2355	c.2200C>T	c.(2200-2202)Ctg>Ttg	p.L734L	OCA2_ENST00000353809.5_Silent_p.L710L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	734					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GACGACGCCAGGGCTGAGACC	0.572									Oculocutaneous Albinism																													uc001zbh.3		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(2200-2202)CTG>TTG		oculocutaneous albinism II							156.0	121.0	133.0					15																	28116344		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28116344G>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2200C>T	15.37:g.28116344G>A						OCA2_uc010ayv.2_Silent_p.L710L	p.L734L	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	21	2310	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	734			Helical; (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.2200C>T	CCDS10020.1																																																																																				0.572	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		16	65	0	0	0	0	16	65				
HERC2	8924	broad.mit.edu	37	15	28358821	28358821	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:28358821G>A	ENST00000261609.7	-	91	14025	c.13917C>T	c.(13915-13917)ctC>ctT	p.L4639L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAAATTCATGGAGTCTGGAAG	0.537																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(13915-13917)CTC>CTT		hect domain and RLD 2							94.0	87.0	90.0					15																	28358821		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28358821G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13917C>T	15.37:g.28358821G>A						HERC2_uc001zbi.2_Silent_p.L328L	p.L4639L	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	91	14023	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4639			HECT.			Silent	SNP	ENST00000261609.7	37	c.13917C>T	CCDS10021.1																																																																																				0.537	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		7	32	0	0	0	0	7	32				
HERC2	8924	broad.mit.edu	37	15	28465693	28465693	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:28465693C>T	ENST00000261609.7	-	37	5858	c.5750G>A	c.(5749-5751)aGg>aAg	p.R1917K		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTTCCCCATCCTGTAGGAGTT	0.597																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(5749-5751)AGG>AAG		hect domain and RLD 2							103.0	94.0	97.0					15																	28465693		2203	4297	6500	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28465693C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5750G>A	15.37:g.28465693C>T	ENSP00000261609:p.Arg1917Lys						p.R1917K	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	37	5856	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1917			MIB/HERC2.			Missense_Mutation	SNP	ENST00000261609.7	37	c.5750G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302193	0.95601	.	.	ENSG00000128731	ENST00000261609	T	0.72615	-0.67	4.79	4.79	0.61399	Mib-herc2 (2);	0.000000	0.85682	D	0.000000	D	0.86569	0.5964	M	0.89353	3.025	0.80722	D	1	P	0.49185	0.92	D	0.66716	0.946	D	0.89155	0.3526	10	0.87932	D	0	.	18.0296	0.89279	0.0:1.0:0.0:0.0	.	1917	O95714	HERC2_HUMAN	K	1917	ENSP00000261609:R1917K	ENSP00000261609:R1917K	R	-	2	0	HERC2	26139288	1.000000	0.71417	0.983000	0.44433	0.899000	0.52679	7.320000	0.79064	2.488000	0.83962	0.650000	0.86243	AGG		0.597	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		64	110	0	0	0	0	64	110				
TJP1	7082	broad.mit.edu	37	15	30012590	30012590	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:30012590G>A	ENST00000346128.6	-	19	3209	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F	TJP1_ENST00000400011.2_Missense_Mutation_p.S916F|TJP1_ENST00000356107.6_Missense_Mutation_p.S912F|TJP1_ENST00000545208.2_Missense_Mutation_p.S912F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	912					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AAATCCAGGGGAGTCTATTCT	0.423																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2734-2736)TCC>TTC		tight junction protein 1 isoform a							177.0	180.0	179.0					15																	30012590		1962	4156	6118	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30012590G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2735C>T	15.37:g.30012590G>A	ENSP00000281537:p.Ser912Phe					TJP1_uc010azl.2_Missense_Mutation_p.S900F|TJP1_uc001zcq.2_Missense_Mutation_p.S916F|TJP1_uc001zcs.2_Missense_Mutation_p.S912F	p.S912F	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	19	3210	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	912					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.2735C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391689	0.62066	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.07567	3.18;3.38;3.3;3.19	5.93	5.0	0.66597	.	0.102221	0.64402	D	0.000001	T	0.25158	0.0611	M	0.63428	1.95	0.80722	D	1	D;D;D;P	0.69078	0.995;0.996;0.997;0.874	P;D;D;P	0.64776	0.851;0.929;0.909;0.667	T	0.00893	-1.1524	9	.	.	.	.	16.9308	0.86190	0.0:0.1278:0.8722:0.0	.	905;912;912;916	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	F	912;916;912;912;912	ENSP00000281537:S912F;ENSP00000382890:S916F;ENSP00000441202:S912F;ENSP00000348416:S912F	.	S	-	2	0	TJP1	27799882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.359000	0.79477	1.467000	0.48044	0.655000	0.94253	TCC		0.423	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		81	154	0	0	0	0	81	154				
RYR3	6263	broad.mit.edu	37	15	34072526	34072526	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:34072526C>T	ENST00000389232.4	+	65	9322	c.9252C>T	c.(9250-9252)acC>acT	p.T3084T	RYR3_ENST00000415757.3_Silent_p.T3084T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3084					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACACCAAAACCCCCAGGGAGA	0.557																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9250-9252)ACC>ACT		ryanodine receptor 3							67.0	64.0	65.0					15																	34072526		1946	4150	6096	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34072526C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9252C>T	15.37:g.34072526C>T						RYR3_uc010bar.2_Silent_p.T3084T	p.T3084T	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	65	9322	+		all_lung(180;7.18e-09)	3084					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9252C>T	CCDS45210.1																																																																																				0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	27	0	0	0	0	5	27				
RYR3	6263	broad.mit.edu	37	15	34072528	34072528	+	Missense_Mutation	SNP	C	C	T	rs61996335	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:34072528C>T	ENST00000389232.4	+	65	9324	c.9254C>T	c.(9253-9255)cCc>cTc	p.P3085L	RYR3_ENST00000415757.3_Missense_Mutation_p.P3085L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3085					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCAAAACCCCCAGGGAGAGG	0.562																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9253-9255)CCC>CTC		ryanodine receptor 3							66.0	63.0	64.0					15																	34072528		1946	4148	6094	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34072528C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9254C>T	15.37:g.34072528C>T	ENSP00000373884:p.Pro3085Leu					RYR3_uc010bar.2_Missense_Mutation_p.P3085L	p.P3085L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	65	9324	+		all_lung(180;7.18e-09)	3085					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9254C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582484	0.65992	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.62232	0.04;0.04	5.52	5.52	0.82312	.	0.273464	0.35677	N	0.003058	T	0.65913	0.2737	M	0.79123	2.44	0.58432	D	0.999999	B;B	0.23249	0.082;0.077	B;B	0.21708	0.036;0.028	T	0.61540	-0.7042	10	0.26408	T	0.33	.	19.6361	0.95733	0.0:1.0:0.0:0.0	.	3085;3085	Q15413-2;Q15413	.;RYR3_HUMAN	L	3085	ENSP00000373884:P3085L;ENSP00000399610:P3085L	ENSP00000354735:P3085L	P	+	2	0	RYR3	31859820	0.977000	0.34250	1.000000	0.80357	0.998000	0.95712	5.829000	0.69316	2.878000	0.98634	0.650000	0.86243	CCC		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	28	0	0	0	0	4	28				
C15orf52	388115	broad.mit.edu	37	15	40627527	40627528	+	Missense_Mutation	DNP	CT	CT	TC			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40627527_40627528CT>TC	ENST00000559313.1	-	11	1451_1452	c.1436_1437AG>GA	c.(1435-1437)cAG>cGA	p.Q479R	C15orf52_ENST00000397536.2_Missense_Mutation_p.Q269R	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	479							poly(A) RNA binding (GO:0044822)	p.Q479Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGCTCCTCTCTGTGGCTCAGG	0.663																																						uc001zlh.3		NA																	1	Substitution - coding silent(1)		large_intestine(1)	large_intestine(1)	1						c.(1435-1437)CAG>CGA		hypothetical protein LOC388115																																				SO:0001583	missense	388115							g.chr15:40627527_40627528CT>TC	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1436_1437delinsTC	15.37:g.40627527_40627528delinsTC	ENSP00000453969:p.Gln479Arg					C15orf52_uc010ucn.1_Missense_Mutation_p.Q269R	p.Q479R	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	11	1452_1453	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	479					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	DNP	ENST00000559313.1	37	c.1436_1437AG>GA	CCDS10055.2																																																																																				0.663	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		36	58	0	0	0	0	36	58				
DISP2	85455	broad.mit.edu	37	15	40659297	40659297	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40659297G>A	ENST00000267889.3	+	8	1071	c.984G>A	c.(982-984)cgG>cgA	p.R328R	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	328					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGTGCCAGCGGACAGCAGCCA	0.637																																						uc001zlk.1		NA																	0				ovary(2)	2						c.(982-984)CGG>CGA		dispatched B							51.0	50.0	51.0					15																	40659297		2203	4300	6503	SO:0001819	synonymous_variant	85455				smoothened signaling pathway	integral to membrane		g.chr15:40659297G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.984G>A	15.37:g.40659297G>A							p.R328R	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	1073	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	328					Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	c.984G>A	CCDS10056.1																																																																																				0.637	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		9	49	0	0	0	0	9	49				
KNSTRN	90417	broad.mit.edu	37	15	40675113	40675113	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40675113C>T	ENST00000249776.8	+	1	192	c.77C>T	c.(76-78)cCa>cTa	p.P26L	KNSTRN_ENST00000448395.2_Missense_Mutation_p.P26L|KNSTRN_ENST00000416151.2_Missense_Mutation_p.P26L|KNSTRN_ENST00000608100.1_5'Flank	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		GATTCCCACCCACTTCCGCCT	0.567																																						uc001zll.2		NA																	0				ovary(1)|skin(1)	2						c.(76-78)CCA>CTA		TRAF4 associated factor 1 isoform a							44.0	48.0	46.0					15																	40675113		1872	4110	5982	SO:0001583	missense	90417					nucleus	protein binding	g.chr15:40675113C>T	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.77C>T	15.37:g.40675113C>T	ENSP00000249776:p.Pro26Leu					C15orf23_uc010ucp.1_Missense_Mutation_p.P26L|C15orf23_uc001zlo.2_Missense_Mutation_p.P26L|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	p.P26L	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	1	192	+		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	26						Missense_Mutation	SNP	ENST00000249776.8	37	c.77C>T	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836144	0.32421	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.19105	2.17;2.17;2.17	4.57	1.35	0.21983	.	0.997400	0.08116	N	0.995404	T	0.11623	0.0283	N	0.17082	0.46	0.09310	N	1	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.16289	0.015;0.015;0.01	T	0.36065	-0.9763	10	0.31617	T	0.26	-2.0501	3.6316	0.08134	0.2442:0.5484:0.0:0.2073	.	26;26;26	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	L	26	ENSP00000249776:P26L;ENSP00000391233:P26L;ENSP00000393001:P26L	ENSP00000249776:P26L	P	+	2	0	C15orf23	38462405	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.020000	0.12525	0.151000	0.19162	0.655000	0.94253	CCA		0.567	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		30	41	0	0	0	0	30	41				
BAHD1	22893	broad.mit.edu	37	15	40751119	40751119	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40751119C>T	ENST00000416165.1	+	2	527	c.456C>T	c.(454-456)caC>caT	p.H152H	BAHD1_ENST00000561234.1_Silent_p.H152H|BAHD1_ENST00000560846.1_Silent_p.H152H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	152					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGGATCCCCACCGCAGCCGTG	0.662																																						uc001zlu.2		NA																	0					0						c.(454-456)CAC>CAT		bromo adjacent homology domain containing 1																																				SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751119C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.456C>T	15.37:g.40751119C>T						BAHD1_uc001zlt.2_Silent_p.H152H|BAHD1_uc010bbp.1_Silent_p.H152H|BAHD1_uc001zlv.2_Silent_p.H152H	p.H152H	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	527	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	152					Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.456C>T	CCDS10058.1																																																																																				0.662	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		23	32	0	0	0	0	23	32				
CASC5	57082	broad.mit.edu	37	15	40915395	40915396	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40915395_40915396CC>TT	ENST00000346991.5	+	11	3401_3402	c.3011_3012CC>TT	c.(3010-3012)tCC>tTT	p.S1004F	CASC5_ENST00000399668.2_Missense_Mutation_p.S978F			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1004	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTTGAACTATCCCAAAGGAAAA	0.391																																						uc010bbs.1		NA																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(3010-3012)TCC>TTT		cancer susceptibility candidate 5 isoform 1																																				SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40915395_40915396CC>TT	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	Exception_encountered	15.37:g.40915395_40915396delinsTT	ENSP00000335463:p.Ser1004Phe					CASC5_uc010ucq.1_Missense_Mutation_p.S828F|CASC5_uc001zme.2_Missense_Mutation_p.S978F|CASC5_uc010bbt.1_Missense_Mutation_p.S978F	p.S1004F	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	3172_3173	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1004			2 X 104 AA approximate repeats.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	DNP	ENST00000346991.5	37	c.3011_3012CC>TT	CCDS42023.1																																																																																				0.391	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		4	56	0	0	0	0	4	56				
CASC5	57082	broad.mit.edu	37	15	40917521	40917521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40917521C>T	ENST00000346991.5	+	11	5527	c.5137C>T	c.(5137-5139)Cag>Tag	p.Q1713*	CASC5_ENST00000399668.2_Nonsense_Mutation_p.Q1687*			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1713					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTAGAAACTCAGCCGGTCTC	0.398																																						uc010bbs.1		NA																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(5137-5139)CAG>TAG		cancer susceptibility candidate 5 isoform 1							82.0	78.0	79.0					15																	40917521		1826	4086	5912	SO:0001587	stop_gained	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40917521C>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5137C>T	15.37:g.40917521C>T	ENSP00000335463:p.Gln1713*					CASC5_uc010ucq.1_Nonsense_Mutation_p.Q1537*|CASC5_uc001zme.2_Nonsense_Mutation_p.Q1687*|CASC5_uc010bbt.1_Nonsense_Mutation_p.Q1687*	p.Q1713*	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	5298	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1713					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Nonsense_Mutation	SNP	ENST00000346991.5	37	c.5137C>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	43	10.506773	0.99418	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	.	.	.	5.5	5.5	0.81552	.	0.000000	0.47455	D	0.000221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	7.4101	0.27014	0.1676:0.7483:0.0:0.0841	.	.	.	.	X	1713;1687;1687	.	ENSP00000260369:Q1687X	Q	+	1	0	CASC5	38704813	0.487000	0.25988	0.980000	0.43619	0.181000	0.23173	1.669000	0.37492	2.598000	0.87819	0.460000	0.39030	CAG		0.398	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		15	105	0	0	0	0	15	105				
VPS18	57617	broad.mit.edu	37	15	41191637	41191637	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:41191637C>T	ENST00000220509.5	+	4	960	c.621C>T	c.(619-621)tcC>tcT	p.S207S	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	207					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGTGTGCTCCCTTGAGGCCG	0.612																																						uc001zne.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(619-621)TCC>TCT		vacuolar protein sorting 18							67.0	72.0	70.0					15																	41191637		2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41191637C>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.621C>T	15.37:g.41191637C>T							p.S207S	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	960	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	207					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.621C>T	CCDS10069.1																																																																																				0.612	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			31	118	0	0	0	0	31	118				
NDUFAF1	51103	broad.mit.edu	37	15	41687185	41687185	+	Missense_Mutation	SNP	G	G	A	rs387906958		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:41687185G>A	ENST00000260361.4	-	3	1012	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	211					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CCACGTACACGGAGATACAGA	0.433																																						uc001znx.2		NA																	0				ovary(1)	1						c.(631-633)CGT>TGT		NADH dehydrogenase (ubiquinone) 1 alpha							136.0	108.0	117.0					15																	41687185		2203	4300	6503	SO:0001583	missense	51103				mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding	g.chr15:41687185G>A	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.631C>T	15.37:g.41687185G>A	ENSP00000260361:p.Arg211Cys					NDUFAF1_uc010bcf.2_RNA	p.R211C	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	3	1013	-		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	211					Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	c.631C>T	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092460	0.94149	.	.	ENSG00000137806	ENST00000260361	T	0.78816	-1.21	5.63	4.7	0.59300	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	0.051037	0.85682	D	0.000000	D	0.89757	0.6807	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91990	0.5602	10	0.87932	D	0	-11.4217	16.1816	0.81909	0.0:0.0:0.8655:0.1345	.	211	Q9Y375	CIA30_HUMAN	C	211	ENSP00000260361:R211C	ENSP00000260361:R211C	R	-	1	0	NDUFAF1	39474477	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.616000	0.98359	1.494000	0.48533	0.551000	0.68910	CGT		0.433	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		35	35	0	0	0	0	35	35				
LTK	4058	broad.mit.edu	37	15	41805298	41805298	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:41805298G>A	ENST00000263800.6	-	2	160	c.64C>T	c.(64-66)Ccg>Tcg	p.P22S	LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Missense_Mutation_p.P22S|LTK_ENST00000453182.2_Missense_Mutation_p.P22S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	22					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGGGACCCCGGGCTAGAGCAG	0.612										TSP Lung(18;0.14)																												uc001zoa.3		NA																	0				lung(6)|central_nervous_system(1)	7						c.(64-66)CCG>TCG		leukocyte receptor tyrosine kinase isoform 1							15.0	20.0	18.0					15																	41805298		2176	4278	6454	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41805298G>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.64C>T	15.37:g.41805298G>A	ENSP00000263800:p.Pro22Ser	TSP Lung(18;0.14)				LTK_uc001zob.3_Missense_Mutation_p.P22S|LTK_uc010ucx.1_Missense_Mutation_p.P22S|LTK_uc010bcg.2_Intron	p.P22S	NM_002344	NP_002335	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	2	242	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	22			Extracellular (Potential).		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.64C>T	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	G	4.302	0.055369	0.08291	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.72942	-0.7;-0.48;-0.65	4.15	0.426	0.16479	.	1.626060	0.04439	N	0.370577	T	0.41442	0.1159	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22452	-1.0216	10	0.17832	T	0.49	.	3.4599	0.07529	0.5698:0.2017:0.2285:0.0	.	22;22;22	E9PFX4;P29376-4;P29376	.;.;LTK_HUMAN	S	22	ENSP00000347293:P22S;ENSP00000263800:P22S;ENSP00000392196:P22S	ENSP00000263800:P22S	P	-	1	0	LTK	39592590	0.147000	0.22687	0.010000	0.14722	0.424000	0.31475	0.449000	0.21744	-0.030000	0.13804	-0.367000	0.07326	CCG		0.612	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			11	9	0	0	0	0	11	9				
PLA2G4B	100137049	broad.mit.edu	37	15	42138473	42138474	+	Missense_Mutation	DNP	CC	CC	TT	rs375427577		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42138473_42138474CC>TT	ENST00000452633.1	+	18	2025_2026	c.1673_1674CC>TT	c.(1672-1674)aCC>aTT	p.T558I	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.T789I|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.T789I|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.T789I|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.T558I			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	558	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GAGTTTTTCACCGATCTTCTGA	0.535																																						uc010bco.2		NA																	0				large_intestine(1)	1						c.(1672-1674)ACC>ATT		phospholipase A2, group IVB																																				SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42138473_42138474CC>TT	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	Exception_encountered	15.37:g.42138473_42138474delinsTT	ENSP00000396045:p.Thr558Ile					JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.T789I|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.T789I|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.T259I|JMJD7-PLA2G4B_uc001zor.1_3'UTR	p.T558I	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			17	1774_1775	+			558			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	DNP	ENST00000452633.1	37	c.1673_1674CC>TT	CCDS45241.1																																																																																				0.535	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		19	131	0	0	0	0	19	131				
SPTBN5	51332	broad.mit.edu	37	15	42149210	42149210	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42149210C>T	ENST00000320955.6	-	52	8876	c.8649G>A	c.(8647-8649)caG>caA	p.Q2883Q		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2883					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTGCGCTCCTGCAGGGGCT	0.647																																						uc001zos.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(8542-8544)CAG>CAA		spectrin, beta, non-erythrocytic 5							10.0	12.0	11.0					15																	42149210		1895	4114	6009	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42149210C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8649G>A	15.37:g.42149210C>T							p.Q2848Q	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	52	8877	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2883			Spectrin 25.			Silent	SNP	ENST00000320955.6	37	c.8544G>A																																																																																					0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		3	7	0	0	0	0	3	7				
EHD4	30844	broad.mit.edu	37	15	42192957	42192957	+	Silent	SNP	G	G	A	rs372304157		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42192957G>A	ENST00000220325.4	-	6	1595	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	504	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TGGCCAGCGCGAACTCCTCCT	0.637																																						uc001zot.2		NA																	0				ovary(2)	2						c.(1510-1512)TTC>TTT		EH-domain containing 4							62.0	54.0	56.0					15																	42192957		2203	4299	6502	SO:0001819	synonymous_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42192957G>A	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1512C>T	15.37:g.42192957G>A							p.F504F	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1575	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	504			EF-hand.|EH.		Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.1512C>T	CCDS10081.1																																																																																				0.637	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		11	38	0	0	0	0	11	38				
MAP1A	4130	broad.mit.edu	37	15	43815393	43815393	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:43815393G>A	ENST00000300231.5	+	4	2172	c.1722G>A	c.(1720-1722)caG>caA	p.Q574Q	MAP1A_ENST00000399453.1_Silent_p.Q574Q|MAP1A_ENST00000382031.1_Silent_p.Q812Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	574					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGCTATCCAGGGAACACCAC	0.542																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(1720-1722)CAG>CAA		microtubule-associated protein 1A	Estramustine(DB01196)						46.0	48.0	47.0					15																	43815393		1991	4163	6154	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815393G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1722G>A	15.37:g.43815393G>A							p.Q574Q	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	2189	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	574					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.1722G>A	CCDS42031.1																																																																																				0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		33	34	0	0	0	0	33	34				
MAP1A	4130	broad.mit.edu	37	15	43819158	43819158	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:43819158G>A	ENST00000300231.5	+	4	5937	c.5487G>A	c.(5485-5487)atG>atA	p.M1829I	MAP1A_ENST00000399453.1_Missense_Mutation_p.M1829I|MAP1A_ENST00000382031.1_Missense_Mutation_p.M2067I			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1829					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGCCACACATGAAGAATGAAC	0.602																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(5485-5487)ATG>ATA		microtubule-associated protein 1A	Estramustine(DB01196)						100.0	98.0	99.0					15																	43819158		1981	4167	6148	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43819158G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5487G>A	15.37:g.43819158G>A	ENSP00000300231:p.Met1829Ile						p.M1829I	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	5954	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1829					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.5487G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.370529	0.01225	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01369	4.97;4.97;4.97	4.59	1.57	0.23409	.	0.446739	0.17022	N	0.190064	T	0.01092	0.0036	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.47661	-0.9100	10	0.31617	T	0.26	-0.075	2.4633	0.04547	0.1001:0.1584:0.4646:0.277	.	1829	P78559	MAP1A_HUMAN	I	2067;1829;1829	ENSP00000371462:M2067I;ENSP00000382380:M1829I;ENSP00000300231:M1829I	ENSP00000300231:M1829I	M	+	3	0	MAP1A	41606450	0.256000	0.24012	0.057000	0.19452	0.025000	0.11179	0.377000	0.20552	1.162000	0.42619	0.557000	0.71058	ATG		0.602	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		29	105	0	0	0	0	29	105				
SPG11	80208	broad.mit.edu	37	15	44881481	44881481	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:44881481G>A	ENST00000261866.7	-	28	4891	c.4875C>T	c.(4873-4875)ctC>ctT	p.L1625L	SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000535302.2_Silent_p.L1625L|SPG11_ENST00000558319.1_Silent_p.L1625L|SPG11_ENST00000427534.2_Silent_p.L1625L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1625					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTTCAACAAAGAGCTGTAAAA	0.408																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(4873-4875)CTC>CTT		spatacsin isoform 1							83.0	81.0	82.0					15																	44881481		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44881481G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4875C>T	15.37:g.44881481G>A						SPG11_uc010ueh.1_Silent_p.L1625L|SPG11_uc010uei.1_Silent_p.L1625L|SPG11_uc001zty.1_Silent_p.L354L	p.L1625L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	28	4906	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1625			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.4875C>T	CCDS10112.1																																																																																				0.408	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			16	77	0	0	0	0	16	77				
C15orf48	84419	broad.mit.edu	37	15	45723009	45723009	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:45723009A>G	ENST00000344300.3	+	1	205	c.15A>G	c.(13-15)caA>caG	p.Q5Q	MIR147B_ENST00000390185.1_RNA|C15orf48_ENST00000396650.2_Silent_p.Q5Q|RP11-519G16.5_ENST00000559553.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	5						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		GCTTTTTCCAACTCCTGATGA	0.368											OREG0023107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zvg.2		NA																	0				ovary(1)	1						c.(13-15)CAA>CAG		normal mucosa of esophagus specific 1							45.0	47.0	46.0					15																	45723009		2197	4297	6494	SO:0001819	synonymous_variant	84419					nucleus		g.chr15:45723009A>G		CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"""normal mucosa of esophagus specific 1"""	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.15A>G	15.37:g.45723009A>G			OREG0023107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	933	C15orf48_uc001zvh.2_Silent_p.Q5Q|MIR147B_hsa-mir-147b|MI0005544_5'Flank	p.Q5Q	NM_197955	NP_922946	Q9C002	NMES1_HUMAN		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)	2	133	+		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	5						Silent	SNP	ENST00000344300.3	37	c.15A>G	CCDS10124.1																																																																																				0.368	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413		3	39	0	0	0	0	3	39				
SLC30A4	7782	broad.mit.edu	37	15	45803391	45803391	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:45803391C>A	ENST00000261867.4	-	3	797	c.483G>T	c.(481-483)ttG>ttT	p.L161F	RP11-519G16.3_ENST00000560647.1_RNA|HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	161					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ATGATAGCCACAAAGCAAGCA	0.373																																						uc001zvj.2		NA																	0					0						c.(481-483)TTG>TTT		solute carrier family 30 (zinc transporter),							319.0	299.0	306.0					15																	45803391		2198	4298	6496	SO:0001583	missense	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45803391C>A		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.483G>T	15.37:g.45803391C>A	ENSP00000261867:p.Leu161Phe					C15orf21_uc001zvk.2_RNA|C15orf21_uc010beg.1_RNA|C15orf21_uc010beh.1_RNA|C15orf21_uc010bei.1_RNA|C15orf21_uc010bej.1_RNA|C15orf21_uc001zvm.1_RNA|C15orf21_uc001zvn.1_RNA	p.L161F	NM_013309	NP_037441	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	3	795	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	161			Helical; (Potential).		Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	c.483G>T	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040373	0.75732	.	.	ENSG00000104154	ENST00000261867	T	0.66280	-0.2	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	L	0.42245	1.32	0.53005	D	0.999964	P	0.51537	0.946	P	0.57324	0.818	T	0.67632	-0.5621	10	0.87932	D	0	-11.6808	8.7554	0.34643	0.0:0.7685:0.1525:0.0791	.	161	O14863	ZNT4_HUMAN	F	161	ENSP00000261867:L161F	ENSP00000261867:L161F	L	-	3	2	SLC30A4	43590683	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.222000	0.17699	2.891000	0.99171	0.644000	0.83932	TTG		0.373	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			43	332	1	0	1.01e-21	1.05e-21	43	332				
SEMA6D	80031	broad.mit.edu	37	15	48058129	48058129	+	Silent	SNP	C	C	T	rs544316665		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:48058129C>T	ENST00000316364.5	+	14	1930	c.1491C>T	c.(1489-1491)caC>caT	p.H497H	SEMA6D_ENST00000354744.4_Silent_p.H497H|SEMA6D_ENST00000536845.2_Silent_p.H497H|SEMA6D_ENST00000558014.1_Silent_p.H497H|SEMA6D_ENST00000389428.3_Silent_p.H497H|SEMA6D_ENST00000389432.2_Silent_p.H497H|SEMA6D_ENST00000358066.4_Silent_p.H497H|SEMA6D_ENST00000558816.1_Silent_p.H497H|SEMA6D_ENST00000537942.1_Silent_p.H497H|SEMA6D_ENST00000355997.3_Silent_p.H497H|SEMA6D_ENST00000389433.2_Silent_p.H497H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	497	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAGATCACCACGCTTTATATG	0.413																																						uc010bek.2		NA																	0				skin(3)|breast(1)	4						c.(1489-1491)CAC>CAT		semaphorin 6D isoform 4 precursor							234.0	206.0	215.0					15																	48058129		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48058129C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1491C>T	15.37:g.48058129C>T						SEMA6D_uc001zvw.2_Silent_p.H497H|SEMA6D_uc001zvy.2_Silent_p.H497H|SEMA6D_uc001zvz.2_Silent_p.H497H|SEMA6D_uc001zwa.2_Silent_p.H497H|SEMA6D_uc001zwb.2_Silent_p.H497H|SEMA6D_uc001zwc.2_Silent_p.H497H	p.H497H	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	14	1851	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	497			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.1491C>T	CCDS32225.1																																																																																				0.413	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		21	97	0	0	0	0	21	97				
MYEF2	50804	broad.mit.edu	37	15	48460949	48460949	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:48460949A>T	ENST00000324324.7	-	2	528	c.249T>A	c.(247-249)taT>taA	p.Y83*	MYEF2_ENST00000267836.6_Nonsense_Mutation_p.Y83*	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	83					myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGTCTTTTGAATAAGGATGAA	0.363																																						uc001zwi.3		NA																	0				lung(2)|ovary(1)	3						c.(247-249)TAT>TAA		myelin expression factor 2							157.0	149.0	152.0					15																	48460949		2196	4297	6493	SO:0001587	stop_gained	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48460949A>T	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.249T>A	15.37:g.48460949A>T	ENSP00000316950:p.Tyr83*					MYEF2_uc001zwj.3_Nonsense_Mutation_p.Y83*|MYEF2_uc001zwl.2_5'UTR	p.Y83*	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	2	373	-		all_lung(180;0.00217)	83					A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Nonsense_Mutation	SNP	ENST00000324324.7	37	c.249T>A	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	A	36	5.641181	0.96693	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	.	.	.	6.08	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2262	10.5631	0.45156	0.8745:0.0:0.1255:0.0	.	.	.	.	X	83	.	ENSP00000267836:Y83X	Y	-	3	2	MYEF2	46248241	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.883000	0.48554	2.333000	0.79357	0.482000	0.46254	TAT		0.363	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		16	94	0	0	0	0	16	94				
CEP152	22995	broad.mit.edu	37	15	49030960	49030960	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49030960G>A	ENST00000380950.2	-	27	4806	c.4619C>T	c.(4618-4620)cCa>cTa	p.P1540L	CEP152_ENST00000399334.3_Missense_Mutation_p.P1484L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1540					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCCATTAGTGGATTGCATTT	0.418																																						uc001zwy.2		NA																	0				lung(2)	2						c.(4450-4452)CCA>CTA		centrosomal protein 152kDa							62.0	61.0	62.0					15																	49030960		1849	4104	5953	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49030960G>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4619C>T	15.37:g.49030960G>A	ENSP00000370337:p.Pro1540Leu					CEP152_uc001zwz.2_Missense_Mutation_p.P1540L	p.P1484L	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	26	4485	-		all_lung(180;0.0428)	1484					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.4451C>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	5.971	0.363063	0.11296	.	.	ENSG00000103995	ENST00000399334	T	0.55234	0.53	5.08	3.23	0.37069	.	0.342599	0.21316	N	0.076547	T	0.32496	0.0831	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14476	-1.0471	10	0.18276	T	0.48	-1.1504	5.2563	0.15548	0.2244:0.0:0.5778:0.1978	.	1484	O94986	CE152_HUMAN	L	1484	ENSP00000382271:P1484L	ENSP00000382271:P1484L	P	-	2	0	CEP152	46818252	0.018000	0.18449	0.001000	0.08648	0.019000	0.09904	1.011000	0.29911	0.742000	0.32697	-0.252000	0.11476	CCA		0.418	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		10	87	0	0	0	0	10	87				
SECISBP2L	9728	broad.mit.edu	37	15	49284871	49284871	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49284871G>T	ENST00000559471.1	-	18	3139	c.2876C>A	c.(2875-2877)aCa>aAa	p.T959K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T914K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	959							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCCAGTCTCTGTACTCTGCTG	0.498																																						uc001zxe.1		NA																	0				breast(1)|skin(1)	2						c.(2875-2877)ACA>AAA		SECIS binding protein 2-like							137.0	126.0	130.0					15																	49284871		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49284871G>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2876C>A	15.37:g.49284871G>T	ENSP00000453854:p.Thr959Lys					SECISBP2L_uc001zxd.1_Missense_Mutation_p.T914K	p.T959K	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			18	3010	-			959					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2876C>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694171	0.88735	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.74315	-0.83	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.80711	0.4675	L	0.29908	0.895	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.82240	-0.0555	10	0.62326	D	0.03	.	18.9031	0.92451	0.0:0.0:1.0:0.0	.	959;914	Q93073;Q93073-2	SBP2L_HUMAN;.	K	914;959	ENSP00000261847:T914K	ENSP00000261847:T914K	T	-	2	0	SECISBP2L	47072163	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	9.238000	0.95380	2.702000	0.92279	0.655000	0.94253	ACA		0.498	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		19	94	1	0	3.33e-07	3.4e-07	19	94				
COPS2	9318	broad.mit.edu	37	15	49436470	49436470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49436470C>T	ENST00000388901.5	-	3	273	c.200G>A	c.(199-201)tGg>tAg	p.W67*	COPS2_ENST00000299259.6_Nonsense_Mutation_p.W67*|COPS2_ENST00000542928.1_Intron	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	67					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTTAAATCCCCATTCTCCTTT	0.289																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	uc001zxf.2		NA																	0				lung(1)	1						c.(199-201)TGG>TAG		COP9 constitutive photomorphogenic homolog							70.0	70.0	70.0					15																	49436470		2194	4277	6471	SO:0001587	stop_gained	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49436470C>T	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.200G>A	15.37:g.49436470C>T	ENSP00000373553:p.Trp67*					COPS2_uc001zxh.2_Nonsense_Mutation_p.W67*|COPS2_uc010ufa.1_Intron	p.W67*	NM_004236	NP_004227	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	3	279	-		all_lung(180;0.0428)	67					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Nonsense_Mutation	SNP	ENST00000388901.5	37	c.200G>A	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	C	35	5.574934	0.96553	.	.	ENSG00000166200	ENST00000299259;ENST00000388901	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3066	20.2697	0.98465	0.0:1.0:0.0:0.0	.	.	.	.	X	67	.	ENSP00000299259:W67X	W	-	2	0	COPS2	47223762	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.961000	0.63681	2.885000	0.99019	0.655000	0.94253	TGG		0.289	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		31	63	0	0	0	0	31	63				
FAM227B	196951	broad.mit.edu	37	15	49800528	49800528	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49800528C>T	ENST00000299338.6	-	11	1195	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	FAM227B_ENST00000561064.1_Missense_Mutation_p.G264S	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	298																	ATCCAAAAGCCTTTTTGAGGT	0.313																																						uc001zxl.2		NA																	0				ovary(1)	1						c.(892-894)GGC>AGC		hypothetical protein LOC196951							103.0	103.0	103.0					15																	49800528		2196	4295	6491	SO:0001583	missense	196951							g.chr15:49800528C>T		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.892G>A	15.37:g.49800528C>T	ENSP00000299338:p.Gly298Ser					C15orf33_uc001zxm.2_Missense_Mutation_p.G264S	p.G298S	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	11	1186	-		all_lung(180;0.00187)	298					Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.892G>A	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.967036	0.34754	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.01	1.82	0.25136	.	0.567736	0.15839	N	0.242132	T	0.41994	0.1183	L	0.46741	1.465	0.23089	N	0.998313	D;D	0.57257	0.979;0.974	P;P	0.53649	0.461;0.731	T	0.24799	-1.0150	9	0.13470	T	0.59	-19.6793	9.4478	0.38708	0.0:0.5707:0.4293:0.0	.	264;298	Q96M60-2;Q96M60	.;CO033_HUMAN	S	298;264	.	ENSP00000299338:G298S	G	-	1	0	C15orf33	47587820	0.038000	0.19896	0.785000	0.31869	0.976000	0.68499	0.295000	0.19065	0.953000	0.37825	0.557000	0.71058	GGC		0.313	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		10	112	0	0	0	0	10	112				
CYP19A1	1588	broad.mit.edu	37	15	51534993	51534993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:51534993C>T	ENST00000396402.1	-	2	270	c.117G>A	c.(115-117)tgG>tgA	p.W39*	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Nonsense_Mutation_p.W39*|CYP19A1_ENST00000260433.2_Nonsense_Mutation_p.W39*|CYP19A1_ENST00000396404.4_Nonsense_Mutation_p.W39*|CYP19A1_ENST00000405913.3_Nonsense_Mutation_p.W39*|CYP19A1_ENST00000557858.1_Nonsense_Mutation_p.W39*|MIR4713_ENST00000582691.1_RNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	39			W -> R (in dbSNP:rs2236722). {ECO:0000269|Ref.8}.		androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	CCTCATAATTCCACACCAAGA	0.443																																					Melanoma(142;1016 1807 39614 48966 51721)	uc001zyz.3		NA																	0				skin(3)	3						c.(115-117)TGG>TGA		cytochrome P450, family 19	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						132.0	111.0	118.0					15																	51534993		2196	4293	6489	SO:0001587	stop_gained	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51534993C>T	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.117G>A	15.37:g.51534993C>T	ENSP00000379683:p.Trp39*					CYP19A1_uc001zza.3_Nonsense_Mutation_p.W39*|CYP19A1_uc001zzb.2_Nonsense_Mutation_p.W39*|CYP19A1_uc001zzd.2_Nonsense_Mutation_p.W39*|CYP19A1_uc010bey.1_Nonsense_Mutation_p.W39*|CYP19A1_uc001zze.1_RNA	p.W39*	NM_031226	NP_112503	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	3	368	-			39					Q16731|Q3B764|Q58FA0|Q8IYJ7	Nonsense_Mutation	SNP	ENST00000396402.1	37	c.117G>A	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	35	5.461622	0.96240	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	.	.	.	5.67	5.67	0.87782	.	0.111009	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4646	19.7613	0.96319	0.0:1.0:0.0:0.0	.	.	.	.	X	39	.	ENSP00000260433:W39X	W	-	3	0	CYP19A1	49322285	1.000000	0.71417	0.999000	0.59377	0.682000	0.39822	5.988000	0.70579	2.661000	0.90470	0.655000	0.94253	TGG		0.443	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			34	30	0	0	0	0	34	30				
WDR72	256764	broad.mit.edu	37	15	53901735	53901735	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:53901735G>A	ENST00000396328.1	-	17	3166	c.2927C>T	c.(2926-2928)tCc>tTc	p.S976F	WDR72_ENST00000360509.5_Missense_Mutation_p.S976F|WDR72_ENST00000557913.1_Missense_Mutation_p.S973F|WDR72_ENST00000559418.1_Missense_Mutation_p.S986F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	976										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTCCAACAGGAAATTAGCTT	0.388																																						uc002acj.2		NA																	0				lung(1)|skin(1)	2						c.(2926-2928)TCC>TTC		WD repeat domain 72							107.0	100.0	102.0					15																	53901735		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53901735G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2927C>T	15.37:g.53901735G>A	ENSP00000379619:p.Ser976Phe						p.S976F	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	17	2969	-			976					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2927C>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619816	0.66787	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.49720	0.77;0.77	5.38	5.38	0.77491	.	0.097526	0.46145	D	0.000310	T	0.64360	0.2591	M	0.61703	1.905	0.35133	D	0.768173	D	0.76494	0.999	D	0.67231	0.95	T	0.74163	-0.3754	10	0.62326	D	0.03	.	14.5045	0.67743	0.0:0.1581:0.8419:0.0	.	976	Q3MJ13	WDR72_HUMAN	F	976	ENSP00000379619:S976F;ENSP00000353699:S976F	ENSP00000353699:S976F	S	-	2	0	WDR72	51689027	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	3.163000	0.50763	2.502000	0.84385	0.655000	0.94253	TCC		0.388	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		14	33	0	0	0	0	14	33				
RFX7	64864	broad.mit.edu	37	15	56535387	56535387	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:56535387G>A	ENST00000423270.1	-	1	96	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000317318.6_Missense_Mutation_p.L33F	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	0					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCGGGCACAAGGGCTGGCAGG	0.637																																						uc010bfn.2		NA																	0					0						c.(97-99)CTT>TTT		regulatory factor X domain containing 2							12.0	14.0	13.0					15																	56535387		1905	4130	6035	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56535387G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000423270.1:c.97C>T	15.37:g.56535387G>A	ENSP00000397644:p.Leu33Phe						p.L33F	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			1	97	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000423270.1	37	c.97C>T		.	.	.	.	.	.	.	.	.	.	G	16.38	3.105955	0.56291	.	.	ENSG00000181827	ENST00000317318;ENST00000423270	T;T	0.53857	0.6;0.6	3.0	3.0	0.34707	.	.	.	.	.	T	0.52645	0.1747	.	.	.	0.38526	D	0.948856	.	.	.	.	.	.	T	0.55547	-0.8124	6	0.44086	T	0.13	.	6.0609	0.19837	0.1457:0.0:0.8543:0.0	.	.	.	.	F	33	ENSP00000313299:L33F;ENSP00000397644:L33F	ENSP00000313299:L33F	L	-	1	0	RFX7	54322679	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.107000	0.50329	1.702000	0.51228	0.460000	0.39030	CTT		0.637	RFX7-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022841		3	19	0	0	0	0	3	19				
ZNF280D	54816	broad.mit.edu	37	15	56981653	56981653	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:56981653G>A	ENST00000267807.7	-	8	731	c.515C>T	c.(514-516)tCa>tTa	p.S172L	ZNF280D_ENST00000559000.1_Missense_Mutation_p.S159L|ZNF280D_ENST00000559237.1_Missense_Mutation_p.S159L|ZNF280D_ENST00000396245.1_5'UTR	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S172*(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGATAAAAATGAACTTTCACT	0.279																																						uc002adu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(514-516)TCA>TTA		suppressor of hairy wing homolog 4 isoform 1							44.0	45.0	44.0					15																	56981653		2190	4292	6482	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56981653G>A	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.515C>T	15.37:g.56981653G>A	ENSP00000267807:p.Ser172Leu					ZNF280D_uc002adv.2_Missense_Mutation_p.S159L|ZNF280D_uc010bfq.2_Missense_Mutation_p.S172L|ZNF280D_uc002adw.1_Missense_Mutation_p.S200L|ZNF280D_uc010bfr.1_RNA	p.S172L	NM_017661	NP_060131	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	8	732	-			172					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.515C>T	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125167	0.20959	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000260435	T	0.29142	1.58	4.84	2.95	0.34219	.	2.343030	0.02327	N	0.073541	T	0.26593	0.0650	L	0.27053	0.805	0.80722	D	1	B;B	0.22983	0.078;0.019	B;B	0.22152	0.038;0.022	T	0.02232	-1.1191	10	0.32370	T	0.25	-0.1796	9.8183	0.40867	0.1706:0.0:0.8294:0.0	.	235;172	B4DHL1;Q6N043	.;Z280D_HUMAN	L	172;159;8	ENSP00000267807:S172L	ENSP00000260435:S8L	S	-	2	0	ZNF280D	54768945	0.502000	0.26107	0.989000	0.46669	0.584000	0.36387	0.612000	0.24283	0.546000	0.28920	0.557000	0.71058	TCA		0.279	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		4	42	0	0	0	0	4	42				
RNF111	54778	broad.mit.edu	37	15	59383308	59383308	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:59383308C>T	ENST00000557998.1	+	12	2981	c.2694C>T	c.(2692-2694)tcC>tcT	p.S898S	RNF111_ENST00000559209.1_Silent_p.S907S|RNF111_ENST00000434298.1_Silent_p.S907S|RNF111_ENST00000348370.4_Silent_p.S898S|RNF111_ENST00000561186.1_Silent_p.S907S	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	898					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GTGGAGCATCCCAGGGGACAA	0.338																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2		NA																	0				ovary(2)	2						c.(2692-2694)TCC>TCT		ring finger protein 111							128.0	133.0	131.0					15																	59383308		2192	4290	6482	SO:0001819	synonymous_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59383308C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2694C>T	15.37:g.59383308C>T						RNF111_uc002afs.2_Silent_p.S898S|RNF111_uc002aft.2_Silent_p.S907S|RNF111_uc002afu.2_Silent_p.S897S|RNF111_uc002afw.2_Silent_p.S907S|RNF111_uc002afx.2_Silent_p.S424S|RNF111_uc002afy.2_Silent_p.S49S	p.S898S	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	12	2973	+			898					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	c.2694C>T	CCDS58366.1																																																																																				0.338	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		29	169	0	0	0	0	29	169				
FAM81A	145773	broad.mit.edu	37	15	59752317	59752317	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:59752317G>A	ENST00000288228.5	+	3	393	c.206G>A	c.(205-207)gGg>gAg	p.G69E		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	69										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CAAAACAAAGGGGGAGGTGAC	0.478																																						uc002agc.2		NA																	0				ovary(1)	1						c.(205-207)GGG>GAG		hypothetical protein LOC145773							101.0	102.0	102.0					15																	59752317		1918	4118	6036	SO:0001583	missense	145773							g.chr15:59752317G>A		CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.206G>A	15.37:g.59752317G>A	ENSP00000288228:p.Gly69Glu					FAM81A_uc010uha.1_Missense_Mutation_p.G69E	p.G69E	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN			3	393	+			69						Missense_Mutation	SNP	ENST00000288228.5	37	c.206G>A	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108079	0.77096	.	.	ENSG00000157470	ENST00000288228	T	0.27720	1.65	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.48059	0.1479	L	0.44542	1.39	0.47994	D	0.999564	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.16041	-1.0416	10	0.30078	T	0.28	-29.1607	16.9987	0.86376	0.0:0.0:1.0:0.0	.	66;69	B4DRE4;Q8TBF8	.;FA81A_HUMAN	E	69	ENSP00000288228:G69E	ENSP00000288228:G69E	G	+	2	0	FAM81A	57539609	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	5.125000	0.64715	2.688000	0.91661	0.655000	0.94253	GGG		0.478	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		26	125	0	0	0	0	26	125				
VPS13C	54832	broad.mit.edu	37	15	62165597	62165597	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:62165597C>T	ENST00000261517.5	-	78	10499	c.10426G>A	c.(10426-10428)Gga>Aga	p.G3476R	VPS13C_ENST00000395898.3_Missense_Mutation_p.G3433R|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395896.4_Missense_Mutation_p.G3476R|VPS13C_ENST00000249837.3_Missense_Mutation_p.G3433R	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GATACAACTCCTGCTGCacca	0.373																																						uc002agz.2		NA																	0				ovary(2)	2						c.(10426-10428)GGA>AGA		vacuolar protein sorting 13C protein isoform 2A							140.0	138.0	139.0					15																	62165597		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62165597C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10426G>A	15.37:g.62165597C>T	ENSP00000261517:p.Gly3476Arg					VPS13C_uc002aha.2_Missense_Mutation_p.G3433R|VPS13C_uc002ahb.1_Missense_Mutation_p.G3476R|VPS13C_uc002ahc.1_Missense_Mutation_p.G3433R	p.G3476R	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			78	10500	-			3476						Missense_Mutation	SNP	ENST00000261517.5	37	c.10426G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326520	0.95708	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.53206	0.64;0.63;0.83	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.79037	-0.1967	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	3433;3476;3433;3476	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	R	3433;3476;3476;3476	ENSP00000249837:G3433R;ENSP00000261517:G3476R;ENSP00000379233:G3476R	ENSP00000249837:G3433R	G	-	1	0	VPS13C	59952889	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.759000	0.85235	2.865000	0.98341	0.655000	0.94253	GGA		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		24	183	0	0	0	0	24	183				
HERC1	8925	broad.mit.edu	37	15	63943520	63943520	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:63943520G>A	ENST00000443617.2	-	53	10565	c.10478C>T	c.(10477-10479)tCc>tTc	p.S3493F		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3493					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GATACTCCAGGAAACTGGTGA	0.438																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(10477-10479)TCC>TTC		hect domain and RCC1-like domain 1							103.0	101.0	101.0					15																	63943520		1826	4079	5905	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63943520G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10478C>T	15.37:g.63943520G>A	ENSP00000390158:p.Ser3493Phe						p.S3493F	NM_003922	NP_003913	Q15751	HERC1_HUMAN			53	10626	-			3493			WD 5.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.10478C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.823881	0.50739	.	.	ENSG00000103657	ENST00000443617	T	0.64260	-0.09	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.237968	0.35040	N	0.003483	T	0.42494	0.1205	N	0.08118	0	0.38519	D	0.948689	B	0.28512	0.214	B	0.25140	0.058	T	0.48625	-0.9019	10	0.49607	T	0.09	.	13.8483	0.63481	0.0:0.2775:0.7225:0.0	.	3493	Q15751	HERC1_HUMAN	F	3493	ENSP00000390158:S3493F	ENSP00000390158:S3493F	S	-	2	0	HERC1	61730573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.216000	0.65246	2.554000	0.86153	0.655000	0.94253	TCC		0.438	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		31	78	0	0	0	0	31	78				
IGDCC3	9543	broad.mit.edu	37	15	65622173	65622173	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:65622173C>T	ENST00000327987.4	-	12	2139	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	630					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCGGCCTCCTCCTTCCGGCAG	0.612																																						uc002aos.2		NA																	0				ovary(3)	3						c.(1888-1890)GAG>AAG		putative neuronal cell adhesion molecule							102.0	67.0	79.0					15																	65622173		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65622173C>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1888G>A	15.37:g.65622173C>T	ENSP00000332773:p.Glu630Lys					IGDCC3_uc002aor.1_5'Flank	p.E630K	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			12	2140	-			630			Extracellular (Potential).		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.1888G>A	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036081	0.54896	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.65916	-0.18	5.94	5.94	0.96194	.	0.212580	0.39083	N	0.001461	T	0.48241	0.1489	N	0.24115	0.695	0.47441	D	0.999427	P	0.40144	0.704	B	0.29716	0.106	T	0.50004	-0.8878	10	0.40728	T	0.16	-18.314	20.3658	0.98878	0.0:1.0:0.0:0.0	.	630	Q8IVU1	IGDC3_HUMAN	K	630;493	ENSP00000332773:E630K	ENSP00000332773:E630K	E	-	1	0	IGDCC3	63409226	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	7.439000	0.80444	2.820000	0.97059	0.650000	0.86243	GAG		0.612	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		15	61	0	0	0	0	15	61				
SKOR1	390598	broad.mit.edu	37	15	68118621	68118621	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:68118621G>A	ENST00000380035.2	+	2	513	c.455G>A	c.(454-456)gGc>gAc	p.G152D	SKOR1_ENST00000554054.1_Missense_Mutation_p.G124D|SKOR1_ENST00000554240.1_Missense_Mutation_p.G113D|SKOR1_ENST00000389002.1_Missense_Mutation_p.G143D|SKOR1_ENST00000341418.5_Missense_Mutation_p.G338D			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	152					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGCCGCTGCGGCATGATCACT	0.662																																						uc002aqy.1		NA																	0					0						c.(427-429)GGC>GAC		transcriptional corepressor Corl1							62.0	59.0	60.0					15																	68118621		2200	4298	6498	SO:0001583	missense	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118621G>A		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.455G>A	15.37:g.68118621G>A	ENSP00000369374:p.Gly152Asp						p.G143D	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			2	428	+			152					A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37	c.428G>A		.	.	.	.	.	.	.	.	.	.	G	26.7	4.759072	0.89843	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	4.94	4.94	0.65067	.	0.058013	0.64402	D	0.000001	D	0.92987	0.7768	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94170	0.7422	10	0.87932	D	0	-19.4506	16.753	0.85492	0.0:0.0:1.0:0.0	.	143	P84550-3	.	D	338;113;124;152;143	ENSP00000343200:G338D;ENSP00000451193:G113D;ENSP00000452361:G124D;ENSP00000369374:G152D;ENSP00000373654:G143D	ENSP00000343200:G338D	G	+	2	0	SKOR1	65905675	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.679000	0.98649	2.292000	0.77174	0.561000	0.74099	GGC		0.662	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		20	54	0	0	0	0	20	54				
KIF23	9493	broad.mit.edu	37	15	69714072	69714072	+	Silent	SNP	C	C	T	rs370109100		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:69714072C>T	ENST00000260363.4	+	4	414	c.297C>T	c.(295-297)gaC>gaT	p.D99D	KIF23_ENST00000558585.1_5'Flank|KIF23_ENST00000352331.4_Silent_p.D99D|KIF23_ENST00000559279.1_Silent_p.D99D|KIF23_ENST00000395392.2_Silent_p.D99D|KIF23_ENST00000537891.1_5'Flank	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	99	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGGTCAATGACCTCATTCATG	0.353																																						uc002asb.2		NA																	0					0						c.(295-297)GAC>GAT		kinesin family member 23 isoform 1		C	,	1,4397	2.1+/-5.4	0,1,2198	134.0	133.0	133.0		297,297	5.0	1.0	15		133	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	KIF23	NM_004856.5,NM_138555.2	,	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	,	99/857,99/961	69714072	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69714072C>T	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.297C>T	15.37:g.69714072C>T						KIF23_uc002asc.2_Silent_p.D99D|KIF23_uc010bii.2_Missense_Mutation_p.T35I|KIF23_uc010ukc.1_5'Flank|KIF23_uc010bih.1_RNA	p.D99D	NM_138555	NP_612565	Q02241	KIF23_HUMAN			4	414	+			99			Kinesin-motor.		Q8WVP0	Silent	SNP	ENST00000260363.4	37	c.297C>T	CCDS32278.1																																																																																				0.353	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				13	99	0	0	0	0	13	99				
MYO9A	4649	broad.mit.edu	37	15	72141213	72141213	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:72141213G>T	ENST00000356056.5	-	39	7282	c.6810C>A	c.(6808-6810)acC>acA	p.T2270T	MYO9A_ENST00000444904.1_Silent_p.T2251T|MYO9A_ENST00000564571.1_Silent_p.T2270T|MYO9A_ENST00000424560.1_Silent_p.T2341T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2270	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGACAACCTGGTCTTTGCCT	0.383																																						uc002atl.3		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(6808-6810)ACC>ACA		myosin IXA							151.0	136.0	141.0					15																	72141213		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72141213G>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6810C>A	15.37:g.72141213G>T						MYO9A_uc002atj.2_Silent_p.T183T|MYO9A_uc002atk.2_Silent_p.T1065T	p.T2270T	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			39	7283	-			2270			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.6810C>A	CCDS10239.1																																																																																				0.383	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		14	75	1	0	2.63e-14	2.72e-14	14	75				
BBS4	585	broad.mit.edu	37	15	73028232	73028232	+	Silent	SNP	C	C	A	rs568443877		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:73028232C>A	ENST00000268057.4	+	14	1214	c.1173C>A	c.(1171-1173)gcC>gcA	p.A391A	BBS4_ENST00000395205.2_Silent_p.A399A|BBS4_ENST00000539603.1_Silent_p.A379A|BBS4_ENST00000542334.1_Silent_p.A219A	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	391	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						AGAAGAACGCCCTGGCCCAAT	0.483									Bardet-Biedl syndrome																													uc002avb.2		NA																	0					0						c.(1171-1173)GCC>GCA		Bardet-Biedl syndrome 4							128.0	124.0	125.0					15																	73028232		2198	4297	6495	SO:0001819	synonymous_variant	585	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73028232C>A	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1173C>A	15.37:g.73028232C>A						BBS4_uc010ukv.1_Silent_p.A379A|BBS4_uc002avc.2_Silent_p.A219A|BBS4_uc002avd.2_Silent_p.A399A	p.A391A	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN			14	1216	+			391			TPR 10.|Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Silent	SNP	ENST00000268057.4	37	c.1173C>A	CCDS10246.1																																																																																				0.483	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		30	149	1	0	1.89e-17	1.96e-17	30	149				
BBS4	585	broad.mit.edu	37	15	73028238	73028238	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:73028238C>T	ENST00000268057.4	+	14	1220	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	BBS4_ENST00000395205.2_Silent_p.A401A|BBS4_ENST00000539603.1_Silent_p.A381A|BBS4_ENST00000542334.1_Silent_p.A221A	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	393	Required for localization to centrosomes.		A -> V (in dbSNP:rs17852452). {ECO:0000269|PubMed:15489334}.		adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACGCCCTGGCCCAATATCAGG	0.463									Bardet-Biedl syndrome																													uc002avb.2		NA																	0					0						c.(1177-1179)GCC>GCT		Bardet-Biedl syndrome 4							124.0	120.0	121.0					15																	73028238		2198	4297	6495	SO:0001819	synonymous_variant	585	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73028238C>T	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1179C>T	15.37:g.73028238C>T						BBS4_uc010ukv.1_Silent_p.A381A|BBS4_uc002avc.2_Silent_p.A221A|BBS4_uc002avd.2_Silent_p.A401A	p.A393A	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN			14	1222	+			393			TPR 10.|Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Silent	SNP	ENST00000268057.4	37	c.1179C>T	CCDS10246.1																																																																																				0.463	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		81	91	0	0	0	0	81	91				
GOLGA6A	342096	broad.mit.edu	37	15	74365149	74365149	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74365149C>T	ENST00000290438.3	-	13	1475	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	479						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CTGGCAGCTTCTAGGTGCTCC	0.617																																						uc002axa.1		NA																	0					0						c.(1435-1437)GAA>AAA		golgi autoantigen, golgin subfamily a, 6							90.0	112.0	104.0					15																	74365149		2168	4297	6465	SO:0001583	missense	342096							g.chr15:74365149C>T	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1435G>A	15.37:g.74365149C>T	ENSP00000290438:p.Glu479Lys						p.E479K	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN			13	1476	-			479			Potential.		A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	c.1435G>A	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	c	8.701	0.909650	0.17833	.	.	ENSG00000159289	ENST00000290438	T	0.25749	1.78	1.52	0.507	0.16967	.	.	.	.	.	T	0.23688	0.0573	M	0.74389	2.26	0.23473	N	0.997609	B	0.10296	0.003	B	0.10450	0.005	T	0.31586	-0.9938	9	0.25106	T	0.35	.	3.4428	0.07470	0.0:0.7081:0.0:0.2919	.	479	Q9NYA3	GOG6A_HUMAN	K	479	ENSP00000290438:E479K	ENSP00000290438:E479K	E	-	1	0	GOLGA6A	72152202	0.993000	0.37304	0.169000	0.22859	0.040000	0.13550	1.449000	0.35123	0.187000	0.20147	0.152000	0.16155	GAA		0.617	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		18	102	0	0	0	0	18	102				
ISLR2	57611	broad.mit.edu	37	15	74425963	74425963	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74425963G>A	ENST00000361742.3	+	4	1637	c.868G>A	c.(868-870)Ggg>Agg	p.G290R	ISLR2_ENST00000565540.1_Missense_Mutation_p.G290R|ISLR2_ENST00000445793.1_Missense_Mutation_p.G290R|ISLR2_ENST00000565159.1_Missense_Mutation_p.G290R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Missense_Mutation_p.G290R|ISLR2_ENST00000435464.1_Missense_Mutation_p.G290R|ISLR2_ENST00000453268.2_Missense_Mutation_p.G290R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	290	Ig-like.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGTTCTGAGCggggaggacga	0.637																																						uc002axd.2		NA																	0					0						c.(868-870)GGG>AGG		immunoglobulin superfamily containing							35.0	29.0	31.0					15																	74425963		2198	4296	6494	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425963G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.868G>A	15.37:g.74425963G>A	ENSP00000355402:p.Gly290Arg					ISLR2_uc002axe.2_Missense_Mutation_p.G290R|ISLR2_uc010bjg.2_Missense_Mutation_p.G290R|ISLR2_uc010bjf.2_Missense_Mutation_p.G290R	p.G290R	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	1637	+			290			Ig-like.|Extracellular (Potential).		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.868G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	1.440	-0.567780	0.03910	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	3.68	-2.87	0.05700	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.755277	0.11779	N	0.530363	T	0.16385	0.0394	L	0.39898	1.24	0.21861	N	0.999506	B	0.12013	0.005	B	0.11329	0.006	T	0.32375	-0.9909	10	0.17832	T	0.49	.	0.7822	0.01043	0.3883:0.1626:0.2834:0.1657	.	290	Q6UXK2	ISLR2_HUMAN	R	290	ENSP00000403244:G290R;ENSP00000355402:G290R;ENSP00000411443:G290R;ENSP00000411834:G290R;ENSP00000408872:G290R	ENSP00000355402:G290R	G	+	1	0	ISLR2	72213016	0.819000	0.29175	0.011000	0.14972	0.316000	0.28119	-0.186000	0.09670	-0.985000	0.03503	-1.043000	0.02367	GGG		0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		4	21	0	0	0	0	4	21				
ISLR2	57611	broad.mit.edu	37	15	74427025	74427025	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74427025G>A	ENST00000361742.3	+	4	2699	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	ISLR2_ENST00000565540.1_Missense_Mutation_p.D644N|ISLR2_ENST00000445793.1_Missense_Mutation_p.D644N|ISLR2_ENST00000565159.1_Missense_Mutation_p.D644N|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Missense_Mutation_p.D644N|ISLR2_ENST00000435464.1_Missense_Mutation_p.D644N|ISLR2_ENST00000453268.2_Missense_Mutation_p.D644N	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	644					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CATCGCCGCAGACTTCGACCC	0.687											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002axd.2		NA																	0					0						c.(1930-1932)GAC>AAC		immunoglobulin superfamily containing							36.0	39.0	38.0					15																	74427025		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74427025G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1930G>A	15.37:g.74427025G>A	ENSP00000355402:p.Asp644Asn		OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	ISLR2_uc002axe.2_Missense_Mutation_p.D644N|ISLR2_uc010bjg.2_Missense_Mutation_p.D644N|ISLR2_uc010bjf.2_Missense_Mutation_p.D644N	p.D644N	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	2699	+			644			Cytoplasmic (Potential).		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.1930G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510985	0.64522	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.48390	0.1497	L	0.32530	0.975	0.80722	D	1	P	0.43750	0.816	B	0.39185	0.293	T	0.58025	-0.7709	10	0.87932	D	0	.	16.1019	0.81178	0.0:0.0:1.0:0.0	.	644	Q6UXK2	ISLR2_HUMAN	N	644;644;644;644;233;644	ENSP00000403244:D644N;ENSP00000355402:D644N;ENSP00000411443:D644N;ENSP00000411834:D644N;ENSP00000408872:D644N	ENSP00000355402:D644N	D	+	1	0	ISLR2	72214078	1.000000	0.71417	0.955000	0.39395	0.568000	0.35870	7.618000	0.83043	2.081000	0.62600	0.313000	0.20887	GAC		0.687	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		16	47	0	0	0	0	16	47				
ISLR	3671	broad.mit.edu	37	15	74467477	74467477	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74467477C>T	ENST00000249842.3	+	2	635	c.278C>T	c.(277-279)gCc>gTc	p.A93V	ISLR_ENST00000395118.1_Missense_Mutation_p.A93V|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	93					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCGCCGGAGCCCTGGCCTCT	0.632																																						uc002axg.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(277-279)GCC>GTC		immunoglobulin superfamily containing							48.0	49.0	49.0					15																	74467477		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467477C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.278C>T	15.37:g.74467477C>T	ENSP00000249842:p.Ala93Val					ISLR_uc002axh.1_Missense_Mutation_p.A93V	p.A93V	NM_005545	NP_005536	O14498	ISLR_HUMAN			2	560	+			93			LRR 2.			Missense_Mutation	SNP	ENST00000249842.3	37	c.278C>T	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171707	0.57584	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.60040	0.22;0.22	4.05	3.05	0.35203	.	0.247628	0.26307	U	0.025125	T	0.50188	0.1601	L	0.33792	1.035	0.35266	D	0.780047	P	0.47253	0.892	P	0.45377	0.478	T	0.62263	-0.6891	10	0.33141	T	0.24	.	15.1229	0.72460	0.0:0.8443:0.1557:0.0	.	93	O14498	ISLR_HUMAN	V	93	ENSP00000249842:A93V;ENSP00000378550:A93V	ENSP00000249842:A93V	A	+	2	0	ISLR	72254530	0.091000	0.21658	0.745000	0.31077	0.446000	0.32137	3.204000	0.51082	1.822000	0.53115	0.313000	0.20887	GCC		0.632	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		6	50	0	0	0	0	6	50				
CCDC33	80125	broad.mit.edu	37	15	74565168	74565168	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74565168C>T	ENST00000398814.3	+	7	1126	c.695C>T	c.(694-696)tCc>tTc	p.S232F	CCDC33_ENST00000321288.5_Missense_Mutation_p.S435F	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	435	C2.									breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACCCCACTGTCCTTCCCTATC	0.617																																						uc002axo.2		NA																	0				ovary(3)|skin(2)	5						c.(694-696)TCC>TTC		coiled-coil domain containing 33 isoform 1							95.0	100.0	98.0					15																	74565168		2074	4181	6255	SO:0001583	missense	80125						protein binding	g.chr15:74565168C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.695C>T	15.37:g.74565168C>T	ENSP00000381795:p.Ser232Phe					CCDC33_uc002axp.2_Missense_Mutation_p.S54F	p.S232F	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			7	1089	+			435					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.695C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	c	12.55	1.970743	0.34754	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.26067	1.76;2.11	4.37	3.29	0.37713	.	0.765162	0.11838	N	0.524531	T	0.46112	0.1376	M	0.68317	2.08	0.20489	N	0.999897	D;D	0.76494	0.998;0.999	P;D	0.85130	0.896;0.997	T	0.15178	-1.0446	10	0.72032	D	0.01	.	8.3227	0.32138	0.2993:0.7007:0.0:0.0	.	435;232	C9JFX2;Q8N5R6-6	.;.	F	435;232	ENSP00000325012:S435F;ENSP00000381795:S232F	ENSP00000325012:S435F	S	+	2	0	CCDC33	72352221	0.201000	0.23410	0.492000	0.27490	0.195000	0.23768	1.430000	0.34914	2.166000	0.68216	0.550000	0.68814	TCC		0.617	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		16	76	0	0	0	0	16	76				
C15orf39	56905	broad.mit.edu	37	15	75503393	75503393	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:75503393C>T	ENST00000360639.2	+	3	3400	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000567617.1_3'UTR|C15orf39_ENST00000394987.4_Missense_Mutation_p.S1027F			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	1027						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCACAAGTCCTCAAGACCA	0.637																																						uc002azp.3		NA																	0					0						c.(3079-3081)TCC>TTC		hypothetical protein LOC56905							53.0	48.0	50.0					15																	75503393		2197	4295	6492	SO:0001583	missense	56905							g.chr15:75503393C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.3080C>T	15.37:g.75503393C>T	ENSP00000353854:p.Ser1027Phe					C15orf39_uc002azq.3_Missense_Mutation_p.S1027F|C15orf39_uc002azr.3_3'UTR	p.S1027F	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			3	3400	+			1027					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.3080C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769164	0.49680	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.19394	2.15;2.15	4.2	4.2	0.49525	.	0.261639	0.28268	N	0.015976	T	0.20333	0.0489	N	0.08118	0	0.80722	D	1	D	0.59767	0.986	P	0.56788	0.806	T	0.08973	-1.0696	10	0.72032	D	0.01	-7.1604	12.2816	0.54767	0.0:1.0:0.0:0.0	.	1027	Q6ZRI6	CO039_HUMAN	F	1027;1027;425	ENSP00000353854:S1027F;ENSP00000378438:S1027F	ENSP00000353854:S1027F	S	+	2	0	C15orf39	73290446	0.004000	0.15560	0.954000	0.39281	0.220000	0.24768	0.284000	0.18864	2.359000	0.80004	0.456000	0.33151	TCC		0.637	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		7	30	0	0	0	0	7	30				
SIN3A	25942	broad.mit.edu	37	15	75702498	75702498	+	Silent	SNP	G	G	A	rs139503359		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:75702498G>A	ENST00000394947.3	-	7	1452	c.1138C>T	c.(1138-1140)Cta>Tta	p.L380L	SIN3A_ENST00000360439.4_Silent_p.L380L|SIN3A_ENST00000394949.4_Silent_p.L380L	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GCATCTGGTAGGAATTGTCCA	0.403																																						uc002bai.2		NA																	0				skin(3)|ovary(1)|lung(1)	5						c.(1138-1140)CTA>TTA		transcriptional co-repressor Sin3A		G	,,	0,4394		0,0,2197	100.0	100.0	100.0		1138,1138,1138	2.6	1.0	15	dbSNP_134	100	2,8586	2.2+/-6.3	0,2,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	SIN3A	NM_001145357.1,NM_001145358.1,NM_015477.2	,,	0,2,6489	AA,AG,GG		0.0233,0.0,0.0154	,,	380/1274,380/1274,380/1274	75702498	2,12980	2197	4294	6491	SO:0001819	synonymous_variant	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75702498G>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1138C>T	15.37:g.75702498G>A						SIN3A_uc002baj.2_Silent_p.L380L|SIN3A_uc010uml.1_Silent_p.L380L	p.L380L	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			7	1397	-			380			PAH 2.|Interaction with REST (By similarity).			Silent	SNP	ENST00000394947.3	37	c.1138C>T	CCDS10279.1																																																																																				0.403	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		20	109	0	0	0	0	20	109				
LINGO1	84894	broad.mit.edu	37	15	77906818	77906818	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:77906818G>A	ENST00000355300.6	-	2	1605	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	LINGO1_ENST00000561030.1_Silent_p.F471F	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	477	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGCCATCAGGGAAGACTGTGA	0.677																																						uc002bct.1		NA																	0				ovary(1)|lung(1)	2						c.(1429-1431)TTC>TTT		leucine-rich repeat neuronal 6A							21.0	23.0	22.0					15																	77906818		2139	4225	6364	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906818G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1431C>T	15.37:g.77906818G>A						LINGO1_uc002bcu.1_Silent_p.F471F	p.F477F	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	1483	-			477			Extracellular (Potential).|Ig-like C2-type.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.1431C>T	CCDS45313.1																																																																																				0.677	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		6	40	0	0	0	0	6	40				
KIAA1024	23251	broad.mit.edu	37	15	79750223	79750223	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:79750223G>A	ENST00000305428.3	+	2	1809	c.1734G>A	c.(1732-1734)aaG>aaA	p.K578K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	578						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGGGAGACAAGGGCAACCGGC	0.522																																						uc002bew.1		NA																	0				pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(1732-1734)AAG>AAA		hypothetical protein LOC23251							69.0	64.0	66.0					15																	79750223		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79750223G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1734G>A	15.37:g.79750223G>A						KIAA1024_uc010unk.1_Silent_p.K578K	p.K578K	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	1809	+			578					A7MD43	Silent	SNP	ENST00000305428.3	37	c.1734G>A	CCDS32306.1																																																																																				0.522	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		42	32	0	0	0	0	42	32				
IL16	3603	broad.mit.edu	37	15	81584977	81584977	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:81584977C>T	ENST00000302987.4	+	11	1501	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	IL16_ENST00000394660.2_Missense_Mutation_p.R501C			Q14005	IL16_HUMAN	interleukin 16	501					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACCCCCGCATCGCAGGGCTCA	0.602																																						uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1501-1503)CGC>TGC		interleukin 16 isoform 2							54.0	61.0	59.0					15																	81584977		2034	4197	6231	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81584977C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1501C>T	15.37:g.81584977C>T	ENSP00000302935:p.Arg501Cys					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.R501C|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.R543C|IL16_uc002bgg.2_Missense_Mutation_p.R501C|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_5'UTR|IL16_uc002bgk.2_5'Flank	p.R501C	NM_172217	NP_757366	Q14005	IL16_HUMAN			12	1877	+			501					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.1501C>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676126	0.67928	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842	T;T	0.16073	2.37;2.37	4.63	4.63	0.57726	.	0.000000	0.44483	D	0.000442	T	0.41766	0.1173	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.982;0.982;0.992	T	0.38308	-0.9667	10	0.87932	D	0	.	17.6739	0.88225	0.0:1.0:0.0:0.0	.	38;501;501	B7Z8M3;Q14005;Q14005-2	.;IL16_HUMAN;.	C	501;333;501;38	ENSP00000378155:R501C;ENSP00000302935:R501C	ENSP00000302935:R501C	R	+	1	0	IL16	79372032	0.970000	0.33590	0.865000	0.33974	0.401000	0.30781	4.115000	0.57865	2.400000	0.81607	0.561000	0.74099	CGC		0.602	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		15	58	0	0	0	0	15	58				
CPEB1	64506	broad.mit.edu	37	15	83226687	83226688	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83226687_83226688GG>AA	ENST00000562019.1	-	4	744_745	c.428_429CC>TT	c.(427-429)cCC>cTT	p.P143L	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000564522.1_Missense_Mutation_p.P68L|CPEB1_ENST00000568128.1_Missense_Mutation_p.P143L|CPEB1_ENST00000563800.1_Missense_Mutation_p.P170L|RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000450751.2_Missense_Mutation_p.P68L|CPEB1_ENST00000398591.2_Missense_Mutation_p.P68L|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.P68L|CPEB1_ENST00000261723.6_Missense_Mutation_p.P146L|CPEB1_ENST00000423133.2_Missense_Mutation_p.P68L			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	143					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAAGCTCAAGGGGGGTTTTCC	0.53																																						uc002bit.2		NA																	0				ovary(1)|breast(1)	2						c.(607-609)CCC>CTT		cytoplasmic polyadenylation element binding																																				SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83226687_83226688GG>AA	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.428_429delinsAA	15.37:g.83226687_83226688delinsAA	ENSP00000457836:p.Pro143Leu					CPEB1_uc002biq.2_Missense_Mutation_p.P68L|CPEB1_uc002bir.2_Missense_Mutation_p.P68L|CPEB1_uc002bis.2_Missense_Mutation_p.P68L|CPEB1_uc010uod.1_Intron|CPEB1_uc010uoe.1_Missense_Mutation_p.P146L|CPEB1_uc002biu.2_Missense_Mutation_p.P170L|CPEB1_uc010uof.1_Missense_Mutation_p.P68L|CPEB1_uc002biv.2_Missense_Mutation_p.P143L|CPEB1_uc002bip.2_5'Flank	p.P203L	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		4	745_746	-			143					B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	DNP	ENST00000562019.1	37	c.608_609CC>TT																																																																																					0.530	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		48	33	0	0	0	0	48	33				
AP3B2	8120	broad.mit.edu	37	15	83331552	83331552	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83331552G>A	ENST00000261722.3	-	22	2877	c.2670C>T	c.(2668-2670)tcC>tcT	p.S890S	AP3B2_ENST00000535348.1_Silent_p.S858S|AP3B2_ENST00000535359.1_Silent_p.S909S|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	890					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGATGTGCACGGACACCATGT	0.612																																						uc010uoh.1		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(2668-2670)TCC>TCT		adaptor-related protein complex 3, beta 2							40.0	46.0	44.0					15																	83331552		2029	4185	6214	SO:0001819	synonymous_variant	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83331552G>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2670C>T	15.37:g.83331552G>A						AP3B2_uc010uoi.1_Silent_p.S909S|AP3B2_uc010uoj.1_Silent_p.S858S|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Silent_p.S526S	p.S890S	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		22	2847	-			890					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	ENST00000261722.3	37	c.2670C>T	CCDS45331.1																																																																																				0.612	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			25	8	0	0	0	0	25	8				
AP3B2	8120	broad.mit.edu	37	15	83335576	83335576	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83335576C>T	ENST00000261722.3	-	15	1982	c.1775G>A	c.(1774-1776)gGt>gAt	p.G592D	AP3B2_ENST00000535348.1_Missense_Mutation_p.G560D|AP3B2_ENST00000535359.1_Missense_Mutation_p.G592D|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	592					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGGGCCCCACCCTGCTCGGA	0.572																																						uc010uoh.1		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(1774-1776)GGT>GAT		adaptor-related protein complex 3, beta 2							52.0	59.0	56.0					15																	83335576		1946	4138	6084	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83335576C>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1775G>A	15.37:g.83335576C>T	ENSP00000261722:p.Gly592Asp					AP3B2_uc010uoi.1_Missense_Mutation_p.G592D|AP3B2_uc010uoj.1_Missense_Mutation_p.G560D|AP3B2_uc010uog.1_Missense_Mutation_p.G228D	p.G592D	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		15	1952	-			592					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.1775G>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401515	0.62288	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.56103	0.49;0.48;0.49	5.84	4.92	0.64577	Armadillo-like helical (1);Armadillo-type fold (1);	0.041686	0.85682	D	0.000000	T	0.37073	0.0990	N	0.19112	0.55	0.80722	D	1	B;B;B	0.24533	0.006;0.012;0.105	B;B;B	0.16722	0.003;0.009;0.016	T	0.13098	-1.0522	10	0.19590	T	0.45	-17.8286	15.1021	0.72288	0.0:0.932:0.0:0.068	.	560;592;592	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	D	592;560;592	ENSP00000261722:G592D;ENSP00000438721:G560D;ENSP00000440984:G592D	ENSP00000261722:G592D	G	-	2	0	AP3B2	81132631	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.976000	0.70484	1.475000	0.48197	0.655000	0.94253	GGT		0.572	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			33	65	0	0	0	0	33	65				
ADAMTSL3	57188	broad.mit.edu	37	15	84568476	84568476	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:84568476G>A	ENST00000286744.5	+	15	1917	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E565K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	565	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCAACAGAAGAACCAACGTG	0.373																																						uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(1693-1695)GAA>AAA		ADAMTS-like 3 precursor							139.0	111.0	120.0					15																	84568476		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84568476G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1693G>A	15.37:g.84568476G>A	ENSP00000286744:p.Glu565Lys					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E565K|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E565K	p.E565K	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		15	1917	+			565			TSP type-1 4.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1693G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715198	0.68844	.	.	ENSG00000156218	ENST00000286744	T	0.66815	-0.23	5.25	4.34	0.51931	.	0.258042	0.36740	N	0.002431	T	0.73877	0.3643	M	0.73962	2.25	0.54753	D	0.999986	B;B	0.29378	0.243;0.061	P;B	0.44359	0.447;0.045	T	0.71170	-0.4671	10	0.33141	T	0.24	.	12.5876	0.56426	0.0797:0.0:0.9203:0.0	.	565;565	P82987-2;P82987	.;ATL3_HUMAN	K	565	ENSP00000286744:E565K	ENSP00000286744:E565K	E	+	1	0	ADAMTSL3	82359480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.553000	0.67287	1.214000	0.43395	0.637000	0.83480	GAA		0.373	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		11	3	0	0	0	0	11	3				
ALPK3	57538	broad.mit.edu	37	15	85382230	85382230	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:85382230G>T	ENST00000258888.5	+	4	1097	c.930G>T	c.(928-930)gtG>gtT	p.V310V		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	310	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCCAGAGGTGACCTGGTACA	0.552																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(928-930)GTG>GTT		alpha-kinase 3							62.0	54.0	57.0					15																	85382230		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85382230G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.930G>T	15.37:g.85382230G>T							p.V310V	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	1097	+			310			Ig-like 1.		Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.930G>T	CCDS10333.1																																																																																				0.552	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		12	20	1	0	1.5e-05	1.52e-05	12	20				
TICRR	90381	broad.mit.edu	37	15	90167625	90167625	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:90167625C>T	ENST00000268138.7	+	20	4189	c.4084C>T	c.(4084-4086)Cct>Tct	p.P1362S	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.P1361S			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1362	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CTCAACTCCCCCTGAACTCTC	0.532																																						uc002boe.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(4084-4086)CCT>TCT		leucine-rich repeat kinase 1							137.0	136.0	136.0					15																	90167625		2200	4299	6499	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90167625C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4084C>T	15.37:g.90167625C>T	ENSP00000268138:p.Pro1362Ser					C15orf42_uc010upv.1_RNA	p.P1362S	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		20	4084	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1362			Pro-rich.		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.4084C>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	3.658	-0.070034	0.07228	.	.	ENSG00000140534	ENST00000268138	T	0.08102	3.13	4.86	3.8	0.43715	.	0.837463	0.10396	N	0.679854	T	0.10294	0.0252	L	0.40543	1.245	0.20074	N	0.999934	P	0.36535	0.557	B	0.41860	0.368	T	0.14615	-1.0466	10	0.08837	T	0.75	-0.3908	14.2512	0.66021	0.1938:0.8062:0.0:0.0	.	1362	Q7Z2Z1	TICRR_HUMAN	S	1362	ENSP00000268138:P1362S	ENSP00000268138:P1362S	P	+	1	0	C15orf42	87968629	0.000000	0.05858	0.009000	0.14445	0.002000	0.02628	0.322000	0.19576	2.395000	0.81488	0.655000	0.94253	CCT		0.532	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		41	115	0	0	0	0	41	115				
CIB1	10519	broad.mit.edu	37	15	90770854	90770854	+	IGR	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:90770854C>T	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000379122.3_Missense_Mutation_p.S580F|SEMA4B_ENST00000411539.2_Missense_Mutation_p.S585F|SEMA4B_ENST00000332496.6_Missense_Mutation_p.S585F	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCGGTTGTGTCCCCGTCTTTT	0.592																																						uc002boy.2		NA																	0				ovary(1)|breast(1)|kidney(1)	3						c.(1753-1755)TCC>TTC		semaphorin 4B precursor							63.0	68.0	67.0					15																	90770854		2036	4186	6222	SO:0001628	intergenic_variant	10509							g.chr15:90770854C>T	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90770854C>T						SEMA4B_uc002boz.2_Missense_Mutation_p.S585F|SEMA4B_uc010uqd.1_Missense_Mutation_p.S423F|SEMA4B_uc002bpa.2_Missense_Mutation_p.S423F|SEMA4B_uc010bnv.1_Missense_Mutation_p.S223F	p.S585F	NM_020210	NP_064595			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		14	2037	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.1754C>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078368	0.36662	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.23147	1.92;2.12;1.92	5.29	-4.27	0.03744	.	1.962410	0.01901	N	0.039194	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B;B;B	0.33022	0.394;0.306;0.181	B;B;B	0.38500	0.275;0.125;0.092	T	0.38394	-0.9663	10	0.56958	D	0.05	.	10.4564	0.44553	0.0:0.269:0.5366:0.1944	.	580;585;580	Q9NPR2-2;Q2NL81;Q9NPR2	.;.;SEM4B_HUMAN	F	585;580;585	ENSP00000332204:S585F;ENSP00000368417:S580F;ENSP00000394720:S585F	ENSP00000332204:S585F	S	+	2	0	SEMA4B	88571858	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.715000	0.04997	-0.365000	0.08076	0.511000	0.50034	TCC		0.592	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			16	40	0	0	0	0	16	40				
CHD2	1106	broad.mit.edu	37	15	93527664	93527665	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:93527664_93527665GG>AA	ENST00000394196.4	+	25	4239_4240	c.3171_3172GG>AA	c.(3169-3174)gaGGaa>gaAAaa	p.E1058K	CHD2_ENST00000557381.1_Missense_Mutation_p.E1058K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1058	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGTAGAGGAGGAAGAGCGGCA	0.416																																						uc002bsp.2		NA																	0				ovary(1)|skin(1)	2						c.(3169-3174)GAGGAA>GAAAAA		chromodomain helicase DNA binding protein 2																																				SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93527664_93527665GG>AA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	Exception_encountered	15.37:g.93527664_93527665delinsAA	ENSP00000377747:p.Glu1058Lys					CHD2_uc002bso.1_Missense_Mutation_p.E1058K	p.E1058K	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		25	3746_3747	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1058			Glu-rich.		C6G482|Q96IP5	Missense_Mutation	DNP	ENST00000394196.4	37	c.3171_3172GG>AA	CCDS10374.2																																																																																				0.416	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		26	7	0	0	0	0	26	7				
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	G	A	rs267604397		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:97326937G>A	ENST00000328504.3	+	1	319	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	SPATA8-AS1_ENST00000560888.1_RNA|SPATA8_ENST00000558553.1_Intron|SPATA8-AS1_ENST00000558722.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552																																						uc002bue.2		NA																	0				ovary(1)|skin(1)	2						c.(52-54)GAA>AAA		spermatogenesis associated 8							81.0	72.0	75.0					15																	97326937		2197	4298	6495	SO:0001583	missense	145946							g.chr15:97326937G>A	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.52G>A	15.37:g.97326937G>A	ENSP00000328149:p.Glu18Lys					uc010uro.1_5'Flank|uc010urp.1_5'Flank|uc002bud.1_5'Flank	p.E18K	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		1	262	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		18					Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	c.52G>A	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	G	7.780	0.709352	0.15239	.	.	ENSG00000185594	ENST00000328504	.	.	.	3.09	1.17	0.20885	.	.	.	.	.	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	P	0.40332	0.713	B	0.40410	0.328	T	0.12066	-1.0562	8	0.87932	D	0	.	3.7756	0.08659	0.1319:0.0:0.629:0.2391	.	18	Q6RVD6	SPAT8_HUMAN	K	18	.	ENSP00000328149:E18K	E	+	1	0	SPATA8	95127941	0.004000	0.15560	0.001000	0.08648	0.012000	0.07955	0.827000	0.27421	0.338000	0.23692	0.462000	0.41574	GAA		0.552	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		21	47	0	0	0	0	21	47				
IGF1R	3480	broad.mit.edu	37	15	99467122	99467122	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:99467122C>T	ENST00000268035.6	+	12	3114	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S	IGF1R_ENST00000558762.1_Missense_Mutation_p.P835S	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	835	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AGATGACATTCCTGGGCCAGT	0.473																																						uc002bul.2		NA																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(2503-2505)CCT>TCT		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						79.0	83.0	81.0					15																	99467122		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99467122C>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2503C>T	15.37:g.99467122C>T	ENSP00000268035:p.Pro835Ser					IGF1R_uc010bon.2_Missense_Mutation_p.P835S|IGF1R_uc010boo.1_5'Flank	p.P835S	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		12	2553	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		835			Extracellular (Potential).|Fibronectin type-III 3.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2503C>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676839	0.88445	.	.	ENSG00000140443	ENST00000268035	T	0.72615	-0.67	5.81	5.81	0.92471	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000028	D	0.87819	0.6273	M	0.89715	3.055	0.80722	D	1	D;P	0.89917	1.0;0.645	D;P	0.77557	0.99;0.542	D	0.88936	0.3376	10	0.62326	D	0.03	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	835;835	C9J5X1;P08069	.;IGF1R_HUMAN	S	835	ENSP00000268035:P835S	ENSP00000268035:P835S	P	+	1	0	IGF1R	97284645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.746000	0.94184	0.591000	0.81541	CCT		0.473	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		47	25	0	0	0	0	47	25				
ADAMTS17	170691	broad.mit.edu	37	15	100514651	100514651	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:100514651C>T	ENST00000268070.4	-	22	3349	c.3244G>A	c.(3244-3246)Gac>Aac	p.D1082N	CTD-3076O17.1_ENST00000528696.3_RNA|CTD-3076O17.2_ENST00000559400.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1082	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCATAGAAGTCCCTGCAGGTC	0.587																																						uc002bvv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3244-3246)GAC>AAC		ADAM metallopeptidase with thrombospondin type 1							82.0	73.0	76.0					15																	100514651		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100514651C>T	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.3244G>A	15.37:g.100514651C>T	ENSP00000268070:p.Asp1082Asn					ADAMTS17_uc002bvw.1_RNA	p.D1082N	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	22	3323	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		1082			PLAC.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.3244G>A	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	36	5.742354	0.96873	.	.	ENSG00000140470	ENST00000268070	T	0.60920	0.15	5.7	5.7	0.88788	PLAC (1);	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63528	-0.6617	10	0.33940	T	0.23	.	19.8288	0.96627	0.0:1.0:0.0:0.0	.	1082	Q8TE56	ATS17_HUMAN	N	1082	ENSP00000268070:D1082N	ENSP00000268070:D1082N	D	-	1	0	ADAMTS17	98332174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.312000	0.65792	2.679000	0.91253	0.650000	0.86243	GAC		0.587	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		8	55	0	0	0	0	8	55				
LRRK1	79705	broad.mit.edu	37	15	101528995	101528996	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101528995_101528996CC>TT	ENST00000388948.3	+	5	949_950	c.590_591CC>TT	c.(589-591)cCC>cTT	p.P197L	LRRK1_ENST00000284395.5_Missense_Mutation_p.P194L|LRRK1_ENST00000532029.2_Missense_Mutation_p.P197L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGCGCTTGCCCCTGTATGCGG	0.589																																						uc002bwr.2		NA																	0				ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(589-591)CCC>CTT		leucine-rich repeat kinase 1																																				SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528995_101528996CC>TT	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	Exception_encountered	15.37:g.101528995_101528996delinsTT	ENSP00000373600:p.Pro197Leu					LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.P197L	p.P197L	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		5	909_910	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		197			ANK 4.			Missense_Mutation	DNP	ENST00000388948.3	37	c.590_591CC>TT	CCDS42086.1																																																																																				0.589	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		14	7	0	0	0	0	14	7				
LRRK1	79705	broad.mit.edu	37	15	101592030	101592030	+	Missense_Mutation	SNP	T	T	G	rs200666835		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101592030T>G	ENST00000388948.3	+	24	3913	c.3554T>G	c.(3553-3555)gTg>gGg	p.V1185G	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.V1182G|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCAGAGGATGTGCAGTACTTC	0.642													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18940	0.0		0.0	False		,,,				2504	0.0					uc002bwr.2		NA																	0				ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(3553-3555)GTG>GGG		leucine-rich repeat kinase 1		T	GLY/VAL	1,4279		0,1,2139	71.0	83.0	79.0		3554	5.4	1.0	15		79	0,8486		0,0,4243	no	missense	LRRK1	NM_024652.3	109	0,1,6382	GG,GT,TT		0.0,0.0234,0.0078	benign	1185/2016	101592030	1,12765	2140	4243	6383	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101592030T>G	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3554T>G	15.37:g.101592030T>G	ENSP00000373600:p.Val1185Gly					LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_5'Flank	p.V1185G	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		24	3873	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1185						Missense_Mutation	SNP	ENST00000388948.3	37	c.3554T>G	CCDS42086.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	14.07	2.425625	0.43020	2.34E-4	0.0	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.74421	-0.82;-0.84	5.41	5.41	0.78517	.	0.074356	0.53938	D	0.000049	T	0.56217	0.1970	N	0.24115	0.695	0.54753	D	0.999989	P	0.39282	0.666	B	0.33339	0.162	T	0.61505	-0.7049	10	0.59425	D	0.04	.	7.7558	0.28923	0.0:0.1625:0.0:0.8375	.	1185	Q38SD2	LRRK1_HUMAN	G	1185;1182	ENSP00000373600:V1185G;ENSP00000284395:V1182G	ENSP00000284395:V1182G	V	+	2	0	LRRK1	99409553	0.997000	0.39634	0.995000	0.50966	0.551000	0.35334	1.472000	0.35376	2.055000	0.61198	0.533000	0.62120	GTG		0.642	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		11	25	0	0	0	0	11	25				
LRRK1	79705	broad.mit.edu	37	15	101606368	101606368	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101606368C>T	ENST00000388948.3	+	32	6085	c.5726C>T	c.(5725-5727)gCc>gTc	p.A1909V	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.A1906V|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACCTGCAGGCCGTGAAGATC	0.637																																						uc002bwr.2		NA																	0				ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(5725-5727)GCC>GTC		leucine-rich repeat kinase 1							98.0	103.0	102.0					15																	101606368		2098	4238	6336	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101606368C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5726C>T	15.37:g.101606368C>T	ENSP00000373600:p.Ala1909Val					LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	p.A1909V	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		32	6045	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1909						Missense_Mutation	SNP	ENST00000388948.3	37	c.5726C>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813601	0.90790	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.78364	-1.12;-1.17	5.46	5.46	0.80206	.	0.262894	0.35677	N	0.003057	D	0.86243	0.5886	M	0.64997	1.995	0.39617	D	0.969971	D	0.76494	0.999	D	0.80764	0.994	D	0.84812	0.0791	10	0.32370	T	0.25	.	18.0747	0.89423	0.0:1.0:0.0:0.0	.	1909	Q38SD2	LRRK1_HUMAN	V	1909;1906;600;463	ENSP00000373600:A1909V;ENSP00000284395:A1906V	ENSP00000284395:A1906V	A	+	2	0	LRRK1	99423891	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	4.381000	0.59587	2.563000	0.86464	0.655000	0.94253	GCC		0.637	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		14	68	0	0	0	0	14	68				
PCSK6	5046	broad.mit.edu	37	15	101906410	101906410	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101906410C>T	ENST00000348070.1	-	14	1845	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	PCSK6_ENST00000358417.3_Missense_Mutation_p.E616K|PCSK6_ENST00000331826.7_Missense_Mutation_p.E451K|PCSK6_ENST00000344273.2_Missense_Mutation_p.E616K|PCSK6_ENST00000398181.2_Missense_Mutation_p.E616K|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	617					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTTGCTTCTCCGGGTTGCGG	0.488																																						uc002bwy.2		NA																	0				pancreas(2)	2						c.(1849-1851)GAG>AAG		paired basic amino acid cleaving system 4							53.0	53.0	53.0					15																	101906410		1912	4142	6054	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101906410C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1846G>A	15.37:g.101906410C>T	ENSP00000305056:p.Glu616Lys					PCSK6_uc010bpd.2_Missense_Mutation_p.E413K|PCSK6_uc010bpe.2_Missense_Mutation_p.E617K|PCSK6_uc002bxa.2_Missense_Mutation_p.E617K|PCSK6_uc002bxb.2_Missense_Mutation_p.E617K|PCSK6_uc002bxc.1_Missense_Mutation_p.E617K|PCSK6_uc002bxd.1_Missense_Mutation_p.E617K|PCSK6_uc002bxe.2_Missense_Mutation_p.E617K|PCSK6_uc002bxf.1_Missense_Mutation_p.E117K	p.E617K	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		14	2163	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		617			Homo B/P.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1849G>A		.	.	.	.	.	.	.	.	.	.	C	12.65	2.002376	0.35320	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.76186	-0.04;-0.04;-1.0;-1.0;-1.0	5.1	5.1	0.69264	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.831633	0.09740	U	0.761924	T	0.69878	0.3160	N	0.17312	0.475	0.24066	N	0.995995	P;D;B;B;B;B;B;B;B	0.61697	0.837;0.99;0.002;0.013;0.016;0.016;0.112;0.004;0.003	B;P;B;B;B;B;B;B;B	0.57152	0.325;0.814;0.006;0.02;0.034;0.034;0.019;0.016;0.01	T	0.54951	-0.8216	10	0.07325	T	0.83	-17.1469	12.9723	0.58520	0.0:0.9189:0.0:0.0811	.	617;448;617;617;616;616;617;617;616	P29122;Q59H04;P29122-2;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	K	616;616;447;616;616;451	ENSP00000305056:E616K;ENSP00000351193:E616K;ENSP00000344410:E616K;ENSP00000381243:E616K;ENSP00000332052:E451K	ENSP00000332052:E451K	E	-	1	0	PCSK6	99723933	0.486000	0.25980	0.529000	0.27951	0.969000	0.65631	1.345000	0.33953	2.351000	0.79841	0.655000	0.94253	GAG		0.488	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		8	18	0	0	0	0	8	18				
AXIN1	8312	broad.mit.edu	37	16	343668	343668	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:343668G>A	ENST00000262320.3	-	8	2377	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	AXIN1_ENST00000354866.3_Missense_Mutation_p.S669F	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	669	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GTGCTCAAGGGACAAGGGTCT	0.642																																						uc002cgp.1		NA																	0				breast(1)|liver(1)	2						c.(2005-2007)TCC>TTC		axin 1 isoform a							97.0	112.0	107.0					16																	343668		2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:343668G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2006C>T	16.37:g.343668G>A	ENSP00000262320:p.Ser669Phe					AXIN1_uc002cgq.1_Missense_Mutation_p.S669F	p.S669F	NM_003502	NP_003493	O15169	AXIN1_HUMAN			8	2183	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	669			Interaction with RNF111.|Interaction with PPP2CA.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.2006C>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108286	0.37242	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.66995	-0.17;-0.24	4.17	4.17	0.49024	.	0.245028	0.42964	D	0.000628	T	0.60418	0.2267	L	0.52759	1.655	0.45621	D	0.99855	P;P	0.40398	0.716;0.593	B;B	0.38378	0.272;0.14	T	0.61603	-0.7029	10	0.29301	T	0.29	-33.8586	15.6374	0.76966	0.0:0.0:1.0:0.0	.	669;669	O15169-2;O15169	.;AXIN1_HUMAN	F	669	ENSP00000262320:S669F;ENSP00000346935:S669F	ENSP00000262320:S669F	S	-	2	0	AXIN1	283669	1.000000	0.71417	0.946000	0.38457	0.388000	0.30384	8.392000	0.90180	2.185000	0.69588	0.478000	0.44815	TCC		0.642	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			58	113	0	0	0	0	58	113				
AXIN1	8312	broad.mit.edu	37	16	396971	396971	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:396971C>T	ENST00000262320.3	-	2	426	c.55G>A	c.(55-57)Gat>Aat	p.D19N	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.D19N	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	19					activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGGGGAGCATCTTCGGTGAAA	0.567																																						uc002cgp.1		NA																	0				breast(1)|liver(1)	2						c.(55-57)GAT>AAT		axin 1 isoform a							57.0	63.0	61.0					16																	396971		2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:396971C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.55G>A	16.37:g.396971C>T	ENSP00000262320:p.Asp19Asn					AXIN1_uc002cgq.1_Missense_Mutation_p.D19N	p.D19N	NM_003502	NP_003493	O15169	AXIN1_HUMAN			2	232	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	19					Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.55G>A	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073958	0.94000	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.62788	0.0;-0.0	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.78272	0.4257	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79878	-0.1617	10	0.72032	D	0.01	-5.3003	19.0272	0.92937	0.0:1.0:0.0:0.0	.	19;19	O15169-2;O15169	.;AXIN1_HUMAN	N	19	ENSP00000262320:D19N;ENSP00000346935:D19N	ENSP00000262320:D19N	D	-	1	0	AXIN1	336972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.650000	0.83521	2.517000	0.84864	0.650000	0.86243	GAT		0.567	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			32	54	0	0	0	0	32	54				
MSLNL	401827	broad.mit.edu	37	16	819554	819554	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:819554C>T	ENST00000442466.1	-	15	1982	c.1983G>A	c.(1981-1983)ggG>ggA	p.G661G	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Silent_p.G1012G			Q96KJ4	MSLNL_HUMAN	mesothelin-like	661					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGATGCAAGTCCCCCAGTGCA	0.632																																						uc002cjz.1		NA																	0				breast(3)|ovary(1)	4						c.(3034-3036)GGG>GGA		mesothelin-like							57.0	65.0	62.0					16																	819554		2057	4216	6273	SO:0001819	synonymous_variant	401827				cell adhesion	integral to membrane		g.chr16:819554C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1983G>A	16.37:g.819554C>T						MIR662_hsa-mir-662|MI0003670_5'Flank	p.G1012G	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			16	3036	-			661			Helical; (Potential).			Silent	SNP	ENST00000442466.1	37	c.3036G>A																																																																																					0.632	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		8	41	0	0	0	0	8	41				
MSLNL	401827	broad.mit.edu	37	16	830222	830222	+	Intron	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:830222C>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Nonsense_Mutation_p.W260*			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ATCCGGGTCCCAGGGTGGACC	0.672																																						uc002cjz.1		NA																	0				breast(3)|ovary(1)	4						c.(778-780)TGG>TAG		mesothelin-like							18.0	22.0	21.0					16																	830222		1887	4103	5990	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830222C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-60G>A	16.37:g.830222C>T							p.W260*	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			3	779	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Nonsense_Mutation	SNP	ENST00000442466.1	37	c.779G>A		.	.	.	.	.	.	.	.	.	.	C	13.84	2.356980	0.41801	.	.	ENSG00000162006	ENST00000293892	.	.	.	2.88	-5.75	0.02384	.	2.391450	0.03044	U	0.153663	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.5225	0.04683	0.1331:0.4092:0.1351:0.3225	.	.	.	.	X	260	.	.	W	-	2	0	MSLNL	770223	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.273000	0.02823	-1.866000	0.01145	-0.670000	0.03821	TGG		0.672	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		7	11	0	0	0	0	7	11				
PRR25	388199	broad.mit.edu	37	16	863384	863384	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:863384C>T	ENST00000301698.1	+	3	732	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	244										large_intestine(1)|lung(1)|skin(1)	3						GCCTCCCCATCCCTGGGTCCA	0.697																																						uc010uut.1		NA																	0				large_intestine(1)	1						c.(730-732)ATC>ATT		proline rich 25							15.0	20.0	19.0					16																	863384		1970	4126	6096	SO:0001819	synonymous_variant	388199							g.chr16:863384C>T	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.732C>T	16.37:g.863384C>T							p.I244I	NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN			3	732	+			244						Silent	SNP	ENST00000301698.1	37	c.732C>T	CCDS45372.1																																																																																				0.697	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		3	6	0	0	0	0	3	6				
ZNF598	90850	broad.mit.edu	37	16	2049627	2049627	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2049627G>A	ENST00000563630.1	-	9	2000	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	ZNF598_ENST00000431526.1_Silent_p.A641A|ZNF598_ENST00000562103.1_Silent_p.A586A|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	641							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCCGAGCAGGGGCCGGGCCCT	0.711																																						uc002cof.1		NA																	0				lung(1)|breast(1)	2						c.(1921-1923)GCC>GCT		zinc finger protein 598							14.0	18.0	17.0					16																	2049627		1790	3965	5755	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2049627G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1758C>T	16.37:g.2049627G>A						ZNF598_uc002coe.1_Silent_p.A5A	p.A641A	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN			11	1938	-			641			Pro-rich.		Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.1923C>T																																																																																					0.711	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		6	27	0	0	0	0	6	27				
PKD1	5310	broad.mit.edu	37	16	2158531	2158532	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2158531_2158532GG>AA	ENST00000262304.4	-	15	6844_6845	c.6636_6637CC>TT	c.(6634-6639)agCCgg>agTTgg	p.R2213W	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.R2213W	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2213	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCCGAGGCCGGCTCACGTCCA	0.678																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(6634-6639)AGCCGG>AGTTGG		polycystin 1 isoform 1 precursor																																				SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2158531_2158532GG>AA	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6636_6637delinsAA	16.37:g.2158531_2158532delinsAA	ENSP00000262304:p.Arg2213Trp					PKD1_uc002cot.1_Missense_Mutation_p.R2213W	p.R2213W	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	6845_6846	-			2213			Extracellular (Potential).|REJ.		Q15140|Q15141	Missense_Mutation	DNP	ENST00000262304.4	37	c.6636_6637CC>TT	CCDS32369.1																																																																																				0.678	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			11	23	0	0	0	0	11	23				
PKD1	5310	broad.mit.edu	37	16	2158553	2158553	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2158553G>A	ENST00000262304.4	-	15	6823	c.6615C>T	c.(6613-6615)gcC>gcT	p.A2205A	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.A2205A	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2205	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCCGGGCAGGGCCACACGCG	0.687																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(6613-6615)GCC>GCT		polycystin 1 isoform 1 precursor							11.0	12.0	11.0					16																	2158553		2150	4212	6362	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2158553G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6615C>T	16.37:g.2158553G>A						PKD1_uc002cot.1_Silent_p.A2205A	p.A2205A	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	6824	-			2205			Extracellular (Potential).|REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.6615C>T	CCDS32369.1																																																																																				0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			5	21	0	0	0	0	5	21				
TBC1D24	57465	broad.mit.edu	37	16	2546623	2546623	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2546623C>T	ENST00000293970.5	+	2	607	c.474C>T	c.(472-474)atC>atT	p.I158I	TBC1D24_ENST00000567020.1_Silent_p.I158I|RP11-20I23.1_ENST00000564543.1_Silent_p.I158I|TBC1D24_ENST00000434757.2_Silent_p.I158I	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	158	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCTGCCGCATCCTGGCCTGCA	0.642																																						uc002cql.2		NA																	0					0						c.(472-474)ATC>ATT		TBC1 domain family, member 24							25.0	29.0	28.0					16																	2546623		2170	4273	6443	SO:0001819	synonymous_variant	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2546623C>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.474C>T	16.37:g.2546623C>T						TBC1D24_uc002cqk.2_Silent_p.I158I|TBC1D24_uc002cqm.2_Silent_p.I158I|TBC1D24_uc010bsm.2_5'Flank	p.I158I	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN			2	614	+			158			Rab-GAP TBC.		A0JNW3|B9A6M6|Q2KJ08	Silent	SNP	ENST00000293970.5	37	c.474C>T	CCDS55980.1																																																																																				0.642	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		10	26	0	0	0	0	10	26				
PDPK1	5170	broad.mit.edu	37	16	2607890	2607890	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2607890C>T	ENST00000342085.4	+	2	360	c.211C>T	c.(211-213)Ccg>Tcg	p.P71S	PDPK1_ENST00000268673.7_Missense_Mutation_p.P71S|PDPK1_ENST00000441549.3_Missense_Mutation_p.P71S|RP11-20I23.11_ENST00000569220.1_RNA|RP11-20I23.13_ENST00000563449.2_RNA|PDPK1_ENST00000354836.5_Missense_Mutation_p.P71S|PDPK1_ENST00000389224.3_Missense_Mutation_p.P44S	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	71					actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TGCCCAGCCTCCGCCGCAGCC	0.657																																						uc002cqs.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(211-213)CCG>TCG		3-phosphoinositide dependent protein kinase-1	Celecoxib(DB00482)						20.0	24.0	23.0					16																	2607890		1503	3126	4629	SO:0001583	missense	5170				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	g.chr16:2607890C>T	AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.211C>T	16.37:g.2607890C>T	ENSP00000344220:p.Pro71Ser					PDPK1_uc002cqt.2_Missense_Mutation_p.P71S|PDPK1_uc010bsn.2_Missense_Mutation_p.P71S|PDPK1_uc002cqu.2_Missense_Mutation_p.P44S|PDPK1_uc002cqv.1_Missense_Mutation_p.P44S|PDPK1_uc010uwe.1_Missense_Mutation_p.P71S|uc010bso.1_5'Flank	p.P71S	NM_002613	NP_002604	O15530	PDPK1_HUMAN			2	355	+		Ovarian(90;0.17)	71					H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Missense_Mutation	SNP	ENST00000342085.4	37	c.211C>T	CCDS10472.1	.	.	.	.	.	.	.	.	.	.	C	4.693	0.128926	0.08981	.	.	ENSG00000140992	ENST00000342085;ENST00000441549;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.71817	-0.6;1.17;3.23;-0.58	4.36	3.39	0.38822	Protein kinase-like domain (2);	0.221983	0.36591	N	0.002502	T	0.56292	0.1975	N	0.21194	0.64	0.22199	N	0.9993	B;B;B;B;B	0.24533	0.017;0.105;0.001;0.008;0.003	B;B;B;B;B	0.19391	0.004;0.025;0.002;0.015;0.004	T	0.51926	-0.8643	10	0.52906	T	0.07	-8.6255	13.0134	0.58743	0.0:0.8362:0.1638:0.0	.	44;109;44;71;71	Q6A1A2;Q59EH6;E3W993;O15530-4;O15530	PDPK2_HUMAN;.;.;.;PDPK1_HUMAN	S	71;109;71;71;44	ENSP00000344220:P71S;ENSP00000268673:P71S;ENSP00000346895:P71S;ENSP00000373876:P44S	ENSP00000268673:P71S	P	+	1	0	PDPK1	2547891	0.085000	0.21516	0.009000	0.14445	0.002000	0.02628	1.849000	0.39318	0.831000	0.34780	-0.340000	0.08031	CCG		0.657	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250831.3			4	53	0	0	0	0	4	53				
SRRM2	23524	broad.mit.edu	37	16	2813122	2813122	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2813122G>T	ENST00000301740.8	+	11	3142	c.2593G>T	c.(2593-2595)Gta>Tta	p.V865L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	865	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGAGCAATCTGTAACGCCACA	0.493																																						uc002crk.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2593-2595)GTA>TTA		splicing coactivator subunit SRm300							111.0	104.0	106.0					16																	2813122		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2813122G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2593G>T	16.37:g.2813122G>T	ENSP00000301740:p.Val865Leu					SRRM2_uc002crj.1_Missense_Mutation_p.V769L|SRRM2_uc002crl.1_Missense_Mutation_p.V865L|SRRM2_uc010bsu.1_Missense_Mutation_p.V769L	p.V865L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	3142	+			865			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2593G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.276726	0.01410	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.21734	1.99	5.57	0.0956	0.14486	.	0.790111	0.11613	N	0.546535	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36744	-0.9735	10	0.23302	T	0.38	0.0	5.6748	0.17743	0.29:0.0:0.5769:0.1332	.	865	Q9UQ35	SRRM2_HUMAN	L	865;865;117;830	ENSP00000301740:V865L	ENSP00000301740:V865L	V	+	1	0	SRRM2	2753123	0.007000	0.16637	0.041000	0.18516	0.292000	0.27327	0.322000	0.19576	0.284000	0.22305	0.650000	0.86243	GTA		0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			51	92	1	0	3.11e-30	3.24e-30	51	92				
FLYWCH2	114984	broad.mit.edu	37	16	2946651	2946651	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2946651C>T	ENST00000396958.3	+	3	581	c.201C>T	c.(199-201)tcC>tcT	p.S67S	FLYWCH2_ENST00000572006.1_Silent_p.S67S|FLYWCH2_ENST00000293981.6_Silent_p.S67S	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	67							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						GTGTCATGTCCCTGGGGGTGC	0.667																																						uc002csa.2		NA																	0					0						c.(199-201)TCC>TCT		FLYWCH family member 2							46.0	55.0	52.0					16																	2946651		2198	4300	6498	SO:0001819	synonymous_variant	114984							g.chr16:2946651C>T	BC014089	CCDS10482.1	16p13.3	2014-02-12	2007-06-21		ENSG00000162076	ENSG00000162076			25178	protein-coding gene	gene with protein product						12477932	Standard	NM_138439		Approved		uc010uwk.2	Q96CP2	OTTHUMG00000128962	ENST00000396958.3:c.201C>T	16.37:g.2946651C>T						FLYWCH2_uc010uwj.1_Silent_p.S67S|FLYWCH2_uc010uwk.1_Silent_p.S67S	p.S67S	NM_138439	NP_612448	Q96CP2	FWCH2_HUMAN			3	572	+			67						Silent	SNP	ENST00000396958.3	37	c.201C>T	CCDS10482.1																																																																																				0.667	FLYWCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250944.1	NM_138439		33	52	0	0	0	0	33	52				
CCDC64B	146439	broad.mit.edu	37	16	3079404	3079404	+	Silent	SNP	C	C	T	rs113579453		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3079404C>T	ENST00000572449.1	-	7	1046	c.984G>A	c.(982-984)aaG>aaA	p.K328K	CCDC64B_ENST00000573514.1_Silent_p.K121K|CCDC64B_ENST00000389347.4_Silent_p.K328K			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	328										breast(1)|endometrium(2)|large_intestine(1)	4						GGCTGGACGCCTTTCGGGTCT	0.592																																						uc002ctf.3		NA																	0					0						c.(982-984)AAG>AAA		coiled-coil domain containing 64B							33.0	35.0	34.0					16																	3079404		1890	4106	5996	SO:0001819	synonymous_variant	146439							g.chr16:3079404C>T	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.984G>A	16.37:g.3079404C>T						CCDC64B_uc002cte.3_Silent_p.K121K	p.K328K	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN			6	1029	-			328					Q658L9	Silent	SNP	ENST00000572449.1	37	c.984G>A	CCDS45393.1																																																																																				0.592	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			6	24	0	0	0	0	6	24				
ZNF174	7727	broad.mit.edu	37	16	3458635	3458635	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3458635C>T	ENST00000268655.4	+	3	1525	c.940C>T	c.(940-942)Ctt>Ttt	p.L314F	ZNF174_ENST00000571936.1_Missense_Mutation_p.L314F	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	314					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TTTGCAACATCTTGGTCACCA	0.493																																						uc002cvc.2		NA																	0					0						c.(940-942)CTT>TTT		zinc finger protein 174 isoform a							78.0	74.0	75.0					16																	3458635		2197	4300	6497	SO:0001583	missense	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3458635C>T	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.940C>T	16.37:g.3458635C>T	ENSP00000268655:p.Leu314Phe						p.L314F	NM_003450	NP_003441	Q15697	ZN174_HUMAN			3	1755	+			314					Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	c.940C>T	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	C	8.947	0.967322	0.18659	.	.	ENSG00000103343	ENST00000268655	T	0.01025	5.43	4.66	3.7	0.42460	.	0.502966	0.16943	N	0.193219	T	0.01287	0.0042	L	0.43646	1.37	0.20821	N	0.999849	B	0.17038	0.02	B	0.18263	0.021	T	0.44143	-0.9347	10	0.27785	T	0.31	.	13.19	0.59704	0.0:0.8383:0.1617:0.0	.	314	Q15697	ZN174_HUMAN	F	314	ENSP00000268655:L314F	ENSP00000268655:L314F	L	+	1	0	ZNF174	3398636	0.000000	0.05858	0.005000	0.12908	0.132000	0.20833	0.682000	0.25335	1.553000	0.49476	-0.300000	0.09419	CTT		0.493	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		17	68	0	0	0	0	17	68				
NLRC3	197358	broad.mit.edu	37	16	3613075	3613075	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3613075G>A	ENST00000301749.7	-	0	2268				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGGCTCAGGGACAGGTTGG	0.706																																						uc010btn.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1861-1863)TCC>TCT		NOD3 protein							7.0	10.0	9.0					16																	3613075		1985	4126	6111			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613075G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613075G>A							p.S621S	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			5	2274	-			621			LRR 1.		Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	ENST00000301749.7	37	c.1863C>T																																																																																					0.706	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		3	6	0	0	0	0	3	6				
NLRC3	197358	broad.mit.edu	37	16	3614430	3614430	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3614430C>T	ENST00000301749.7	-	0	913				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCGAGAAGTCCTTGCCGACC	0.657																																						uc010btn.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(508-510)GAC>AAC		NOD3 protein							44.0	53.0	50.0					16																	3614430		2073	4187	6260			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614430C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614430C>T							p.D170N	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			5	919	-			170			NACHT.		Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37	c.508G>A		.	.	.	.	.	.	.	.	.	.	C	14.84	2.654059	0.47362	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	4.93	3.99	0.46301	.	0.058230	0.64402	D	0.000003	T	0.70474	0.3228	.	.	.	0.25673	N	0.985879	B	0.19331	0.035	B	0.24701	0.055	T	0.61153	-0.7120	9	0.45353	T	0.12	.	7.5812	0.27965	0.0:0.8076:0.0:0.1924	.	217	C9JLH9	.	N	170;170;170;217;152	ENSP00000301749:D170N;ENSP00000352039:D170N;ENSP00000414415:D217N;ENSP00000323897:D152N	ENSP00000301749:D170N	D	-	1	0	NLRC3	3554431	0.989000	0.36119	0.984000	0.44739	0.971000	0.66376	2.608000	0.46308	1.071000	0.40834	0.655000	0.94253	GAC		0.657	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		4	50	0	0	0	0	4	50				
SLX4	84464	broad.mit.edu	37	16	3639210	3639210	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3639210G>A	ENST00000294008.3	-	12	5069	c.4429C>T	c.(4429-4431)Ccc>Tcc	p.P1477S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1477	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCTCGGATGGGGGTGGTGTCC	0.662								Direct reversal of damage																														uc002cvp.2		NA																	0					0						c.(4429-4431)CCC>TCC	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							96.0	113.0	107.0					16																	3639210		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639210G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4429C>T	16.37:g.3639210G>A	ENSP00000294008:p.Pro1477Ser						p.P1477S	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			12	5056	-			1477			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.4429C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653183	0.88056	.	.	ENSG00000188827	ENST00000294008	T	0.01474	4.85	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.07818	0.0196	M	0.72894	2.215	0.34981	D	0.754111	P	0.52061	0.95	P	0.56042	0.79	T	0.04885	-1.0920	10	0.42905	T	0.14	.	17.502	0.87734	0.0:0.0:1.0:0.0	.	1477	Q8IY92	SLX4_HUMAN	S	1477	ENSP00000294008:P1477S	ENSP00000294008:P1477S	P	-	1	0	SLX4	3579211	1.000000	0.71417	0.114000	0.21550	0.169000	0.22640	3.908000	0.56355	2.884000	0.98904	0.655000	0.94253	CCC		0.662	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		43	223	0	0	0	0	43	223				
GLIS2	84662	broad.mit.edu	37	16	4385175	4385176	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:4385175_4385176GG>AT	ENST00000262366.3	+	6	1458_1459	c.637_638GG>AT	c.(637-639)GGc>ATc	p.G213I	GLIS2_ENST00000433375.1_Missense_Mutation_p.G213I|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	213					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CGCCCGCCATGGCCGAGGTTTC	0.653																																						uc002cwc.1		NA																	0					0						c.(637-639)GGC>ATC		GLIS family zinc finger 2																																				SO:0001583	missense	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4385175_4385176GG>AT	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	Exception_encountered	16.37:g.4385175_4385176delinsAT	ENSP00000262366:p.Gly213Ile						p.G213I	NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN			4	694_695	+			213			C2H2-type 2; atypical.		B3KX84	Missense_Mutation	DNP	ENST00000262366.3	37	c.637_638GG>AT	CCDS10511.1																																																																																				0.653	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		23	50	0	0	0	0	23	50				
SEC14L5	9717	broad.mit.edu	37	16	5055947	5055947	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:5055947G>A	ENST00000251170.7	+	12	1515	c.1335G>A	c.(1333-1335)cgG>cgA	p.R445R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	445	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACACCAGGCGGAAGTTCCTCA	0.483																																						uc002cye.2		NA																	0					0						c.(1333-1335)CGG>CGA		SEC14-like 5							42.0	45.0	44.0					16																	5055947		1933	4124	6057	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5055947G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1335G>A	16.37:g.5055947G>A							p.R445R	NM_014692	NP_055507	O43304	S14L5_HUMAN			12	1515	+			445			CRAL-TRIO.			Silent	SNP	ENST00000251170.7	37	c.1335G>A	CCDS45403.1																																																																																				0.483	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			7	14	0	0	0	0	7	14				
SEC14L5	9717	broad.mit.edu	37	16	5058637	5058637	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:5058637G>A	ENST00000251170.7	+	14	1968	c.1788G>A	c.(1786-1788)ggG>ggA	p.G596G	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	596	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCCGGGAGGGGGAGAGCATCC	0.627																																						uc002cye.2		NA																	0					0						c.(1786-1788)GGG>GGA		SEC14-like 5							37.0	44.0	42.0					16																	5058637		1960	4135	6095	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5058637G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1788G>A	16.37:g.5058637G>A							p.G596G	NM_014692	NP_055507	O43304	S14L5_HUMAN			14	1968	+			596			GOLD.			Silent	SNP	ENST00000251170.7	37	c.1788G>A	CCDS45403.1																																																																																				0.627	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			36	64	0	0	0	0	36	64				
ABAT	18	broad.mit.edu	37	16	8862733	8862734	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:8862733_8862734CC>TT	ENST00000396600.2	+	11	1657_1658	c.719_720CC>TT	c.(718-720)tCC>tTT	p.S240F	ABAT_ENST00000569156.1_Missense_Mutation_p.S240F|ABAT_ENST00000268251.8_Missense_Mutation_p.S240F|ABAT_ENST00000567812.1_Missense_Mutation_p.S255F|ABAT_ENST00000425191.2_Missense_Mutation_p.S240F	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	240					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)	p.S240F(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GACATCCCTTCCTTTGACTGGC	0.53																																						uc002czc.3		NA																	2	Substitution - Missense(2)		skin(2)	upper_aerodigestive_tract(1)	1						c.(718-720)TCC>TTT		4-aminobutyrate aminotransferase precursor	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)																																			SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8862733_8862734CC>TT	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	Exception_encountered	16.37:g.8862733_8862734delinsTT	ENSP00000379845:p.Ser240Phe					ABAT_uc002czd.3_Missense_Mutation_p.S240F|ABAT_uc010buh.2_Missense_Mutation_p.S182F|ABAT_uc010bui.2_Missense_Mutation_p.S240F	p.S240F	NM_020686	NP_065737	P80404	GABT_HUMAN			11	885_886	+			240					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	DNP	ENST00000396600.2	37	c.719_720CC>TT	CCDS10534.1																																																																																				0.530	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		117	221	0	0	0	0	117	221				
GRIN2A	2903	broad.mit.edu	37	16	9892181	9892181	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:9892181G>A	ENST00000396573.2	-	12	2618	c.2309C>T	c.(2308-2310)cCt>cTt	p.P770L	GRIN2A_ENST00000396575.2_Missense_Mutation_p.P770L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P770L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P613L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P770L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P770L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	770					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTCTTCCAAGGAGAGCCTTT	0.557																																						uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2308-2310)CCT>CTT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						102.0	76.0	85.0					16																	9892181		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9892181G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2309C>T	16.37:g.9892181G>A	ENSP00000379818:p.Pro770Leu					GRIN2A_uc010uym.1_Missense_Mutation_p.P770L|GRIN2A_uc010uyn.1_Missense_Mutation_p.P613L|GRIN2A_uc002czr.3_Missense_Mutation_p.P770L	p.P770L	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			11	2857	-			770			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2309C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	4.843	0.156680	0.09236	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.03	3.05	0.35203	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.431663	0.28062	N	0.016747	T	0.47930	0.1472	M	0.70275	2.135	0.19775	N	0.999959	B;B;B	0.10296	0.002;0.003;0.0	B;B;B	0.12837	0.005;0.008;0.001	T	0.39187	-0.9626	9	.	.	.	.	8.4633	0.32940	0.0795:0.2922:0.6282:0.0	.	613;770;770	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	770;770;613;770;770	ENSP00000379818:P770L;ENSP00000385872:P770L;ENSP00000441572:P613L;ENSP00000332549:P770L;ENSP00000379820:P770L	.	P	-	2	0	GRIN2A	9799682	0.005000	0.15991	0.800000	0.32199	0.975000	0.68041	0.512000	0.22755	0.519000	0.28406	0.557000	0.71058	CCT		0.557	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			18	40	0	0	0	0	18	40				
NUBP1	4682	broad.mit.edu	37	16	10851749	10851749	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:10851749C>T	ENST00000283027.5	+	7	490	c.471C>T	c.(469-471)ctC>ctT	p.L157L	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.L146L	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						AGCAGTTCCTCCGAGATGTGG	0.502																																						uc002daa.1		NA																	0				ovary(1)|skin(1)	2						c.(469-471)CTC>CTT		nucleotide binding protein 1							145.0	134.0	138.0					16																	10851749		2197	4300	6497	SO:0001819	synonymous_variant	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10851749C>T	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"""nucleotide binding protein 1 (E.coli MinD like)"", ""nucleotide binding protein 1 (MinD homolog, E. coli)"""	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.471C>T	16.37:g.10851749C>T						NUBP1_uc010bum.1_Silent_p.L22L|NUBP1_uc002dab.1_Silent_p.L146L	p.L157L	NM_002484	NP_002475	P53384	NUBP1_HUMAN			7	494	+			157						Silent	SNP	ENST00000283027.5	37	c.471C>T	CCDS10543.1																																																																																				0.502	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		9	128	0	0	0	0	9	128				
CIITA	4261	broad.mit.edu	37	16	10989224	10989224	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:10989224C>T	ENST00000324288.8	+	2	271	c.138C>T	c.(136-138)tgC>tgT	p.C46C	CIITA_ENST00000381835.5_Silent_p.C46C|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	46					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACCCCCTGTGCCTCTACCACT	0.582			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3		NA		Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		0				central_nervous_system(1)	1						c.(136-138)TGC>TGT		class II transactivator							96.0	86.0	89.0					16																	10989224		2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10989224C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.138C>T	16.37:g.10989224C>T						CIITA_uc002daj.3_Silent_p.C46C|CIITA_uc002dak.3_Silent_p.C46C|CIITA_uc002dag.2_Silent_p.C46C|CIITA_uc002dah.2_Silent_p.C46C|CIITA_uc010bup.1_Silent_p.C46C	p.C46C	NM_000246	NP_000237	P33076	C2TA_HUMAN			2	271	+			46					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.138C>T	CCDS10544.1																																																																																				0.582	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		7	26	0	0	0	0	7	26				
CIITA	4261	broad.mit.edu	37	16	11001414	11001414	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:11001414G>A	ENST00000324288.8	+	11	2198	c.2065G>A	c.(2065-2067)Gcg>Acg	p.A689T	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	689	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAGGACCTGGGCGATGGCCAA	0.657			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3		NA		Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		0				central_nervous_system(1)	1						c.(2065-2067)GCG>ACG		class II transactivator							50.0	52.0	51.0					16																	11001414		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11001414G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2065G>A	16.37:g.11001414G>A	ENSP00000316328:p.Ala689Thr					CIITA_uc002daj.3_Missense_Mutation_p.A690T|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A689T|CIITA_uc002dah.2_Missense_Mutation_p.A641T|CIITA_uc010bup.1_Intron	p.A689T	NM_000246	NP_000237	P33076	C2TA_HUMAN			11	2198	+			689			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.2065G>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208052	0.39003	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.74421	-0.84	5.3	4.34	0.51931	NACHT nucleoside triphosphatase (1);	0.113578	0.39759	N	0.001266	T	0.78953	0.4365	L	0.49455	1.56	0.80722	D	1	D;P;D;D	0.89917	0.973;0.609;0.984;1.0	P;B;P;D	0.85130	0.614;0.119;0.785;0.997	T	0.72843	-0.4170	10	0.11794	T	0.64	.	11.3037	0.49323	0.0875:0.0:0.9125:0.0	.	689;689;641;689	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	T	689;641	ENSP00000316328:A689T	ENSP00000316328:A689T	A	+	1	0	CIITA	10908915	1.000000	0.71417	0.997000	0.53966	0.558000	0.35554	4.073000	0.57570	2.479000	0.83701	0.655000	0.94253	GCG		0.657	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		14	73	0	0	0	0	14	73				
RSL1D1	26156	broad.mit.edu	37	16	11940618	11940618	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:11940618A>G	ENST00000571133.1	-	4	539	c.467T>C	c.(466-468)cTt>cCt	p.L156P	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	156					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GGCATCAGTAAGGAAGAAATC	0.403																																						uc002dbp.1		NA																	0					0						c.(466-468)CTT>CCT		ribosomal L1 domain containing 1							175.0	186.0	182.0					16																	11940618		2197	4300	6497	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11940618A>G	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.467T>C	16.37:g.11940618A>G	ENSP00000460871:p.Leu156Pro					RSL1D1_uc010buv.1_Missense_Mutation_p.L156P|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_RNA	p.L156P	NM_015659	NP_056474	O76021	RL1D1_HUMAN			4	540	-			156					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.467T>C	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017548	0.75161	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.59638	0.25	5.23	5.23	0.72850	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.205916	0.42964	D	0.000626	T	0.79890	0.4524	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.84428	0.0575	10	0.87932	D	0	-5.4037	13.9609	0.64177	1.0:0.0:0.0:0.0	.	156;156	Q32Q62;O76021	.;RL1D1_HUMAN	P	156	ENSP00000347897:L156P	ENSP00000347897:L156P	L	-	2	0	RSL1D1	11848119	1.000000	0.71417	0.446000	0.26920	0.889000	0.51656	7.799000	0.85936	1.980000	0.57719	0.454000	0.30748	CTT		0.403	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		111	214	0	0	0	0	111	214				
SNX29	92017	broad.mit.edu	37	16	12136911	12136911	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:12136911C>T	ENST00000566228.1	+	5	474	c.405C>T	c.(403-405)ctC>ctT	p.L135L	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	135	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGCACATGCTCCTGGCCGACC	0.642																																						uc002dbw.1		NA								T					CIITA		PMBL|Hodgkin Lymphona|		0				ovary(1)	1						c.(403-405)CTC>CTT		RUN domain containing 2A							31.0	27.0	28.0					16																	12136911		2197	4300	6497	SO:0001819	synonymous_variant	84127							g.chr16:12136911C>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.405C>T	16.37:g.12136911C>T							p.L135L	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN			5	467	+			135			RUN.		B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.405C>T	CCDS10553.2																																																																																				0.642	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			5	21	0	0	0	0	5	21				
KIAA0430	9665	broad.mit.edu	37	16	15705498	15705498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:15705498G>A	ENST00000396368.3	-	18	3774	c.3568C>T	c.(3568-3570)Cag>Tag	p.Q1190*	CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.Q792*|KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.Q1025*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.Q1187*|KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.Q1187*|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.Q1190*	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1190	HTH OST-type 4. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTGCTGGCCTGGGATTTGAGA	0.423																																						uc002ddr.2		NA																	0					0						c.(3568-3570)CAG>TAG		limkain b1							84.0	79.0	81.0					16																	15705498		1853	4096	5949	SO:0001587	stop_gained	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15705498G>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3568C>T	16.37:g.15705498G>A	ENSP00000379654:p.Gln1190*					KIAA0430_uc002ddq.2_Nonsense_Mutation_p.Q1024*|KIAA0430_uc010uzv.1_Nonsense_Mutation_p.Q1186*|KIAA0430_uc010uzw.1_Nonsense_Mutation_p.Q1189*	p.Q1190*	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			18	3761	-			1189					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Nonsense_Mutation	SNP	ENST00000396368.3	37	c.3568C>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	44	10.717699	0.99456	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.3014	0.94145	0.0:0.0:1.0:0.0	.	.	.	.	X	1190;1025;1130;792;1187;1190;970	.	ENSP00000315718:Q1130X	Q	-	1	0	KIAA0430	15612999	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.951000	0.93025	2.817000	0.96982	0.643000	0.83706	CAG		0.423	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		14	59	0	0	0	0	14	59				
XYLT1	64131	broad.mit.edu	37	16	17353019	17353019	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:17353019G>A	ENST00000261381.6	-	3	823	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	247					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGGTCTCGGGGGAGCTGCCC	0.632																																						uc002dfa.2		NA																	0				ovary(4)	4						c.(739-741)CCC>TCC		xylosyltransferase I							104.0	104.0	104.0					16																	17353019		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353019G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.739C>T	16.37:g.17353019G>A	ENSP00000261381:p.Pro247Ser						p.P247S	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			3	824	-			247			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.739C>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587003	0.66105	.	.	ENSG00000103489	ENST00000261381	T	0.04119	3.7	5.39	5.39	0.77823	.	0.282001	0.40728	N	0.001037	T	0.06600	0.0169	L	0.51422	1.61	0.58432	D	0.999997	P	0.37141	0.584	B	0.31946	0.138	T	0.43925	-0.9361	10	0.25106	T	0.35	-11.9232	18.2268	0.89920	0.0:0.0:1.0:0.0	.	247	Q86Y38	XYLT1_HUMAN	S	247	ENSP00000261381:P247S	ENSP00000261381:P247S	P	-	1	0	XYLT1	17260520	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.519000	0.60517	2.543000	0.85770	0.650000	0.86243	CCC		0.632	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		57	102	0	0	0	0	57	102				
SMG1	23049	broad.mit.edu	37	16	18823385	18823385	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:18823385C>T	ENST00000446231.2	-	61	11098	c.10686G>A	c.(10684-10686)ctG>ctA	p.L3562L	SMG1_ENST00000389467.3_Silent_p.L3563L|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3562					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTTTTGGATCAGCTTTCTAG	0.463																																						uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(10684-10686)CTG>CTA		PI-3-kinase-related kinase SMG-1							109.0	99.0	102.0					16																	18823385		1950	4148	6098	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18823385C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10686G>A	16.37:g.18823385C>T						SMG1_uc010bwb.2_Silent_p.L3422L|SMG1_uc010bwa.2_Silent_p.L2293L	p.L3562L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			61	11049	-			3562					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.10686G>A	CCDS45430.1																																																																																				0.463	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		16	63	0	0	0	0	16	63				
SYT17	51760	broad.mit.edu	37	16	19236021	19236021	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:19236021C>T	ENST00000355377.2	+	7	1487	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	SYT17_ENST00000562711.2_Silent_p.I359I|SYT17_ENST00000568433.1_Silent_p.I57I|SYT17_ENST00000562034.1_Silent_p.I302I|SYT17_ENST00000568115.1_Silent_p.I302I	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	363	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TTGTGAAAATCCAGCTGGTGC	0.428																																						uc002dfw.2		NA																	0				ovary(1)	1						c.(1087-1089)ATC>ATT		B/K protein							110.0	98.0	102.0					16																	19236021		2197	4300	6497	SO:0001819	synonymous_variant	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19236021C>T		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.1089C>T	16.37:g.19236021C>T						SYT17_uc002dfx.2_Silent_p.I302I|SYT17_uc002dfy.2_Silent_p.I359I|SYT17_uc002dfv.1_Silent_p.I302I	p.I363I	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN			7	1420	+			363			C2 2.		O43330|Q9NZ18	Silent	SNP	ENST00000355377.2	37	c.1089C>T	CCDS10575.1																																																																																				0.428	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		26	58	0	0	0	0	26	58				
CCP110	9738	broad.mit.edu	37	16	19553958	19553958	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:19553958C>T	ENST00000381396.5	+	7	2490	c.2243C>T	c.(2242-2244)gCc>gTc	p.A748V	CCP110_ENST00000396212.2_Missense_Mutation_p.A748V|CCP110_ENST00000396208.2_Missense_Mutation_p.A748V	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	748					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						ACAAATTCTGCCATGCAATAT	0.373																																						uc002dgl.3		NA																	0					0						c.(2242-2244)GCC>GTC		RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;							93.0	90.0	91.0					16																	19553958		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19553958C>T	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.2243C>T	16.37:g.19553958C>T	ENSP00000370803:p.Ala748Val					CP110_uc002dgk.3_Missense_Mutation_p.A748V	p.A748V			O43303	CP110_HUMAN			7	2490	+			748					B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.2243C>T	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482064	0.26598	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.15487	2.42;2.42;2.42	5.66	2.33	0.28932	.	0.498586	0.20419	N	0.092702	T	0.15825	0.0381	L	0.50333	1.59	0.22142	N	0.999337	B;B	0.13145	0.007;0.007	B;B	0.14578	0.011;0.011	T	0.16808	-1.0390	10	0.45353	T	0.12	-21.4743	9.7913	0.40708	0.0:0.6654:0.2604:0.0742	.	748;748	O43303;O43303-2	CP110_HUMAN;.	V	748	ENSP00000379515:A748V;ENSP00000370803:A748V;ENSP00000379511:A748V	ENSP00000370803:A748V	A	+	2	0	CCP110	19461459	0.005000	0.15991	0.972000	0.41901	0.426000	0.31534	0.714000	0.25808	0.659000	0.30945	0.655000	0.94253	GCC		0.373	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		5	42	0	0	0	0	5	42				
ACSM2A	123876	broad.mit.edu	37	16	20476956	20476956	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:20476956G>A	ENST00000573854.1	+	3	409	c.295G>A	c.(295-297)Gga>Aga	p.G99R	ACSM2A_ENST00000575690.1_Missense_Mutation_p.G99R|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G99R|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.G20R|ACSM2A_ENST00000424070.1_Missense_Mutation_p.G99R|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G99R	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	99					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CGTCCTCTCGGGAGCCTGTGG	0.592																																						uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(295-297)GGA>AGA		acyl-CoA synthetase medium-chain family member							129.0	112.0	118.0					16																	20476956		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20476956G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.295G>A	16.37:g.20476956G>A	ENSP00000459451:p.Gly99Arg					ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.G20R|ACSM2A_uc002dhf.3_Missense_Mutation_p.G99R|ACSM2A_uc002dhg.3_Missense_Mutation_p.G99R|ACSM2A_uc010vay.1_Missense_Mutation_p.G20R	p.G99R	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			4	534	+			99					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.295G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	9.848	1.192881	0.21954	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	3.76	0.372	0.16173	AMP-dependent synthetase/ligase (1);	0.980022	0.08309	N	0.965660	T	0.25082	0.0609	N	0.08118	0	0.09310	N	1	B;B	0.20261	0.043;0.024	B;B	0.21360	0.021;0.034	T	0.24368	-1.0162	10	0.24483	T	0.36	-2.7742	6.58	0.22588	0.1808:0.1467:0.6726:0.0	.	20;99	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	R	20;99;99;99	ENSP00000392169:G20R;ENSP00000219054:G99R;ENSP00000394904:G99R;ENSP00000379411:G99R	ENSP00000219054:G99R	G	+	1	0	ACSM2A	20384457	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	0.291000	0.18994	-0.105000	0.12132	-0.736000	0.03550	GGA		0.592	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		16	51	0	0	0	0	16	51				
ACSM2A	123876	broad.mit.edu	37	16	20487017	20487017	+	Silent	SNP	C	C	T	rs184343147		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:20487017C>T	ENST00000573854.1	+	8	1134	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	ACSM2A_ENST00000575690.1_Silent_p.S340S|ACSM2A_ENST00000396104.2_Silent_p.S340S|ACSM2A_ENST00000536134.1_Silent_p.S112S|ACSM2A_ENST00000417235.2_Silent_p.S261S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.S340S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	340					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TAGGGGAGTCCCTTCTTCCAG	0.522													c|||	1	0.000199681	0.0	0.0	5008	,	,		18181	0.001		0.0	False		,,,				2504	0.0					uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(1018-1020)TCC>TCT		acyl-CoA synthetase medium-chain family member							139.0	143.0	141.0					16																	20487017		2203	4300	6503	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20487017C>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1020C>T	16.37:g.20487017C>T						ACSM2A_uc010vax.1_Silent_p.S261S|ACSM2A_uc002dhf.3_Silent_p.S340S|ACSM2A_uc002dhg.3_Silent_p.S340S|ACSM2A_uc010vay.1_Silent_p.S261S|ACSM2A_uc002dhh.3_5'UTR	p.S340S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			9	1259	+			340					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1020C>T	CCDS32401.1																																																																																				0.522	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		36	199	0	0	0	0	36	199				
ZP2	7783	broad.mit.edu	37	16	21208925	21208926	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:21208925_21208926CC>TT	ENST00000574002.1	-	20	2595_2596	c.2113_2114GG>AA	c.(2113-2115)GGg>AAg	p.G705K	ZP2_ENST00000219593.4_Missense_Mutation_p.G705K|ZP2_ENST00000574091.1_Missense_Mutation_p.G696K|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	705					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGTCTTGTGCCCTTTGGTGTCC	0.48																																						uc002dii.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2113-2115)GGG>AAG		zona pellucida glycoprotein 2 preproprotein																																				SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21208925_21208926CC>TT	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2113_2114delinsTT	16.37:g.21208925_21208926delinsTT	ENSP00000460971:p.Gly705Lys					ZP2_uc010bwn.1_Missense_Mutation_p.G735K	p.G705K	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	19	2113_2114	-			705			Extracellular (Potential).		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	DNP	ENST00000574002.1	37	c.2113_2114GG>AA	CCDS10596.1																																																																																				0.480	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			10	72	0	0	0	0	10	72				
ZP2	7783	broad.mit.edu	37	16	21213521	21213521	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:21213521C>T	ENST00000574002.1	-	12	1673	c.1191G>A	c.(1189-1191)agG>agA	p.R397R	ZP2_ENST00000219593.4_Silent_p.R397R|ZP2_ENST00000574091.1_Silent_p.R397R|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	397	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGTTTCCCACCCTCAGAGTAC	0.532																																						uc002dii.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1189-1191)AGG>AGA		zona pellucida glycoprotein 2 preproprotein							84.0	78.0	80.0					16																	21213521		2200	4300	6500	SO:0001819	synonymous_variant	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21213521C>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1191G>A	16.37:g.21213521C>T						ZP2_uc010bwn.1_Silent_p.R436R	p.R397R	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	11	1191	-			397			Extracellular (Potential).|ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	c.1191G>A	CCDS10596.1																																																																																				0.532	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			14	29	0	0	0	0	14	29				
GGA2	23062	broad.mit.edu	37	16	23499976	23499976	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23499976G>A	ENST00000309859.4	-	6	612	c.530C>T	c.(529-531)tCt>tTt	p.S177F	GGA2_ENST00000567468.1_Missense_Mutation_p.S177F	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	177					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GGGCCAGGGAGATGGTGGGGG	0.418																																						uc002dlq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(529-531)TCT>TTT		ADP-ribosylation factor binding protein 2							187.0	183.0	184.0					16																	23499976		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23499976G>A	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.530C>T	16.37:g.23499976G>A	ENSP00000311962:p.Ser177Phe					GGA2_uc010bxo.1_RNA	p.S177F	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	6	606	-			177					D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.530C>T	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790875	0.70452	.	.	ENSG00000103365	ENST00000309859	T	0.16457	2.34	5.11	5.11	0.69529	.	0.618350	0.18007	N	0.154695	T	0.38983	0.1061	L	0.59436	1.845	0.44098	D	0.996861	D	0.76494	0.999	D	0.72982	0.979	T	0.03773	-1.1005	10	0.49607	T	0.09	-20.0887	16.4099	0.83704	0.0:0.0:1.0:0.0	.	177	Q9UJY4	GGA2_HUMAN	F	177	ENSP00000311962:S177F	ENSP00000311962:S177F	S	-	2	0	GGA2	23407477	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.857000	0.92250	2.538000	0.85594	0.643000	0.83706	TCT		0.418	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			54	109	0	0	0	0	54	109				
UBFD1	56061	broad.mit.edu	37	16	23569515	23569515	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23569515C>T	ENST00000395878.3	+	2	651	c.270C>T	c.(268-270)atC>atT	p.I90I	UBFD1_ENST00000567264.1_Silent_p.I90I|UBFD1_ENST00000571064.1_3'UTR|EARS2_ENST00000564501.1_5'Flank|EARS2_ENST00000563232.1_5'Flank|EARS2_ENST00000563459.1_5'Flank|UBFD1_ENST00000567212.1_Silent_p.I81I|UBFD1_ENST00000219638.4_Silent_p.I314I|EARS2_ENST00000449606.1_5'Flank	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	90	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		ACTTGAAGATCATCTGGAATA	0.637																																					Melanoma(22;290 1069 22358 48158)	uc002dlv.2		NA																	0					0						c.(268-270)ATC>ATT		ubiquitin-binding protein homolog							45.0	50.0	49.0					16																	23569515		2017	4187	6204	SO:0001819	synonymous_variant	56061							g.chr16:23569515C>T	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.270C>T	16.37:g.23569515C>T						EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank	p.I90I	NM_019116	NP_061989	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	2	472	+			90			Ubiquitin-like.		A8MW58|D3DWF2	Silent	SNP	ENST00000395878.3	37	c.270C>T	CCDS10613.2																																																																																				0.637	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		18	39	0	0	0	0	18	39				
ERN2	10595	broad.mit.edu	37	16	23713533	23713534	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23713533_23713534CC>TT	ENST00000457008.2	-	11	1180_1181	c.1142_1143GG>AA	c.(1141-1143)gGG>gAA	p.G381E	ERN2_ENST00000256797.4_Missense_Mutation_p.G429E					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CAGTTCCACTCCCCAGGGTGGG	0.619																																						uc002dma.3		NA																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1285-1287)GGG>GAA		endoplasmic reticulum to nucleus signalling 2																																				SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23713533_23713534CC>TT	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1142_1143delinsTT	16.37:g.23713533_23713534delinsTT	ENSP00000413812:p.Gly381Glu					ERN2_uc010bxp.2_Missense_Mutation_p.G429E|ERN2_uc010bxq.1_Missense_Mutation_p.G237E	p.G429E	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	11	1455_1456	-			381			Lumenal (Potential).			Missense_Mutation	DNP	ENST00000457008.2	37	c.1286_1287GG>AA																																																																																					0.619	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			60	111	0	0	0	0	60	111				
SLC5A11	115584	broad.mit.edu	37	16	24922733	24922733	+	Missense_Mutation	SNP	C	C	T	rs145800390	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:24922733C>T	ENST00000347898.3	+	16	2529	c.1907C>T	c.(1906-1908)cCg>cTg	p.P636L	SLC5A11_ENST00000568579.1_Missense_Mutation_p.P566L|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P480L|SLC5A11_ENST00000565769.1_Missense_Mutation_p.P572L|SLC5A11_ENST00000424767.2_Missense_Mutation_p.P601L|SLC5A11_ENST00000539472.1_Missense_Mutation_p.P572L|SLC5A11_ENST00000567758.1_Missense_Mutation_p.P601L|SLC5A11_ENST00000449109.2_Missense_Mutation_p.P480L|SLC5A11_ENST00000545376.1_Missense_Mutation_p.P566L	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GAAGAGCTCCCGGCCAGAGCA	0.537																																						uc002dmu.2		NA																	0				ovary(2)	2						c.(1906-1908)CCG>CTG		solute carrier family 5 (sodium/glucose		C	LEU/PRO	2,4392	4.2+/-10.8	0,2,2195	168.0	175.0	172.0		1907	1.1	0.0	16	dbSNP_134	172	0,8600		0,0,4300	no	missense	SLC5A11	NM_052944.2	98	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	benign	636/676	24922733	2,12992	2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24922733C>T	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1907C>T	16.37:g.24922733C>T	ENSP00000289932:p.Pro636Leu					SLC5A11_uc002dms.2_Missense_Mutation_p.P572L|SLC5A11_uc010vcd.1_Missense_Mutation_p.P601L|SLC5A11_uc002dmt.2_Missense_Mutation_p.P480L|SLC5A11_uc010vce.1_Missense_Mutation_p.P566L|SLC5A11_uc010bxt.2_Missense_Mutation_p.P572L|SLC5A11_uc002dmv.2_Missense_Mutation_p.P259L	p.P636L	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	16	2139	+			636			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.1907C>T	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	C	6.882	0.532167	0.13127	4.55E-4	0.0	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.87103	-2.09;-1.87;-2.21;-2.19;-2.21	5.57	1.07	0.20283	.	1.843940	0.02434	N	0.083855	T	0.81351	0.4804	L	0.32530	0.975	0.22342	N	0.999184	B;B;B;B	0.28636	0.113;0.181;0.218;0.152	B;B;B;B	0.17722	0.019;0.019;0.012;0.006	T	0.66814	-0.5828	10	0.46703	T	0.11	.	9.2786	0.37714	0.0:0.7232:0.1557:0.1211	.	566;601;636;480	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	L	636;480;601;566;572	ENSP00000289932:P636L;ENSP00000389606:P480L;ENSP00000416782:P601L;ENSP00000441384:P566L;ENSP00000441018:P572L	ENSP00000289932:P636L	P	+	2	0	SLC5A11	24830234	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.690000	0.25451	0.233000	0.21120	0.484000	0.47621	CCG		0.537	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		87	156	0	0	0	0	87	156				
ZKSCAN2	342357	broad.mit.edu	37	16	25264338	25264338	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:25264338G>A	ENST00000328086.7	-	3	1410	c.607C>T	c.(607-609)Cct>Tct	p.P203S		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	203					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCAAGGGCAGGAACCCAGGGA	0.438																																						uc002dod.3		NA																	0				ovary(3)|breast(1)	4						c.(607-609)CCT>TCT		zinc finger with KRAB and SCAN domains 2							131.0	133.0	132.0					16																	25264338		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25264338G>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.607C>T	16.37:g.25264338G>A	ENSP00000331626:p.Pro203Ser					ZKSCAN2_uc010vcl.1_5'UTR|ZKSCAN2_uc002doe.2_Missense_Mutation_p.P203S	p.P203S	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	3	1014	-			203					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.607C>T	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	4.437	0.080814	0.08533	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.12984	2.63	5.97	-0.886	0.10590	.	0.461396	0.20368	N	0.093707	T	0.10551	0.0258	L	0.47716	1.5	0.33385	D	0.575309	B;B	0.12630	0.004;0.006	B;B	0.08055	0.003;0.003	T	0.05784	-1.0864	10	0.72032	D	0.01	-1.9598	6.1407	0.20259	0.2223:0.3863:0.3913:0.0	.	203;203	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	S	203	ENSP00000331626:P203S	ENSP00000331626:P203S	P	-	1	0	ZKSCAN2	25171839	0.999000	0.42202	0.495000	0.27527	0.015000	0.08874	0.543000	0.23237	-0.065000	0.13021	-0.148000	0.13756	CCT		0.438	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		28	158	0	0	0	0	28	158				
SULT1A1	6817	broad.mit.edu	37	16	28617420	28617420	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:28617420G>A	ENST00000395607.1	-	7	1005	c.732C>T	c.(730-732)ccC>ccT	p.P244P	SULT1A1_ENST00000314752.7_Silent_p.P244P|SULT1A1_ENST00000569554.1_Silent_p.P244P|SULT1A1_ENST00000350842.4_Silent_p.P166P|SULT1A1_ENST00000395609.1_Silent_p.P244P	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	TGAACTCCTGGGGGACGGTGG	0.617																																						uc002dqi.2		NA																	0					0						c.(730-732)CCC>CCT		sulfotransferase family, cytosolic, 1A,							254.0	197.0	217.0					16																	28617420		2197	4300	6497	SO:0001819	synonymous_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28617420G>A	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.732C>T	16.37:g.28617420G>A						uc010vct.1_Intron|SULT1A1_uc002dqj.2_Silent_p.P244P|SULT1A1_uc002dqk.2_Silent_p.P244P|SULT1A1_uc002dql.2_Silent_p.P244P|SULT1A1_uc002dqm.2_Silent_p.P166P|SULT1A1_uc002dqn.2_Silent_p.P335P|SULT1A1_uc002dqo.2_Silent_p.P244P|SULT1A1_uc002dqp.2_Silent_p.P244P	p.P244P	NM_177534	NP_803878	P50225	ST1A1_HUMAN			6	1205	-			244					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	ENST00000395607.1	37	c.732C>T	CCDS32420.1																																																																																				0.617	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		27	424	0	0	0	0	27	424				
SULT1A1	6817	broad.mit.edu	37	16	28617426	28617426	+	Silent	SNP	G	G	A	rs377189659		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:28617426G>A	ENST00000395607.1	-	7	999	c.726C>T	c.(724-726)acC>acT	p.T242T	SULT1A1_ENST00000314752.7_Silent_p.T242T|SULT1A1_ENST00000569554.1_Silent_p.T242T|SULT1A1_ENST00000350842.4_Silent_p.T164T|SULT1A1_ENST00000395609.1_Silent_p.T242T	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	242					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	CCTGGGGGACGGTGGTGTAGT	0.602																																						uc002dqi.2		NA																	0					0						c.(724-726)ACC>ACT		sulfotransferase family, cytosolic, 1A,		G	,,,,	0,4394		0,0,2197	244.0	187.0	206.0		726,726,726,726,492	-1.1	0.0	16		206	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SULT1A1	NM_001055.3,NM_177529.2,NM_177530.2,NM_177534.2,NM_177536.3	,,,,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,,,	242/296,242/296,242/296,242/296,164/218	28617426	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28617426G>A	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.726C>T	16.37:g.28617426G>A						uc010vct.1_Intron|SULT1A1_uc002dqj.2_Silent_p.T242T|SULT1A1_uc002dqk.2_Silent_p.T242T|SULT1A1_uc002dql.2_Silent_p.T242T|SULT1A1_uc002dqm.2_Silent_p.T164T|SULT1A1_uc002dqn.2_Silent_p.T333T|SULT1A1_uc002dqo.2_Silent_p.T242T|SULT1A1_uc002dqp.2_Silent_p.T242T	p.T242T	NM_177534	NP_803878	P50225	ST1A1_HUMAN			6	1199	-			242					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	ENST00000395607.1	37	c.726C>T	CCDS32420.1																																																																																				0.602	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		27	401	0	0	0	0	27	401				
SPN	6693	broad.mit.edu	37	16	29675976	29675976	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:29675976C>T	ENST00000360121.3	+	2	1019	c.927C>T	c.(925-927)gtC>gtT	p.V309V	SPN_ENST00000395389.2_Silent_p.V309V	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CAGCCCAGGTCCCTGAGGAGG	0.731																																						uc002dtm.2		NA																	0				central_nervous_system(2)	2						c.(925-927)GTC>GTT		sialophorin precursor							6.0	7.0	7.0					16																	29675976		2141	4177	6318	SO:0001819	synonymous_variant	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675976C>T	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.927C>T	16.37:g.29675976C>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Silent_p.V309V|SPN_uc010bzd.2_RNA	p.V309V	NM_001030288	NP_001025459	P16150	LEUK_HUMAN			2	1063	+			309			Cytoplasmic (Potential).		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent	SNP	ENST00000360121.3	37	c.927C>T	CCDS10650.1																																																																																				0.731	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			3	10	0	0	0	0	3	10				
TAOK2	9344	broad.mit.edu	37	16	29996845	29996846	+	Silent	DNP	CC	CC	TT	rs141623258		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:29996845_29996846CC>TT	ENST00000308893.4	+	14	2777_2778	c.1734_1735CC>TT	c.(1732-1737)gcCCtg>gcTTtg	p.578_579AL>AL	TAOK2_ENST00000279394.3_Silent_p.578_579AL>AL|TAOK2_ENST00000543033.1_Silent_p.578_579AL>AL|TAOK2_ENST00000416441.2_Silent_p.405_406AL>AL	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	578					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGCTGGCTGCCCTGCTGGAGGC	0.639																																						uc002dva.1		NA																	0				ovary(1)	1						c.(1732-1737)GCCCTG>GCTTTG		TAO kinase 2 isoform 2																																				SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29996845_29996846CC>TT	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	Exception_encountered	16.37:g.29996845_29996846delinsTT						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.578_579AL>AL|TAOK2_uc002dvc.1_Silent_p.578_579AL>AL|TAOK2_uc010bzm.1_Silent_p.585_586AL>AL|TAOK2_uc002dvd.1_Silent_p.405_406AL>AL	p.578_579AL>AL	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			14	2517_2518	+			578_579			Potential.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	DNP	ENST00000308893.4	37	c.1734_1735CC>TT	CCDS10663.1																																																																																				0.639	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		6	33	0	0	0	0	6	33				
FBXL19	54620	broad.mit.edu	37	16	30941539	30941539	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:30941539C>T	ENST00000380310.2	+	7	1153	c.995C>T	c.(994-996)tCc>tTc	p.S332F	FBXL19_ENST00000338343.4_Missense_Mutation_p.S312F|FBXL19_ENST00000565690.1_Missense_Mutation_p.S196F|FBXL19_ENST00000471231.2_Missense_Mutation_p.S20F|FBXL19_ENST00000562319.1_Missense_Mutation_p.S312F	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	332	Ser-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GACTCAGACTCCGACTCCGAC	0.667																																						uc002eab.2		NA																	0				ovary(2)|lung(1)|breast(1)	4						c.(994-996)TCC>TTC		F-box and leucine-rich repeat protein 19							35.0	39.0	38.0					16																	30941539		2090	4215	6305	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30941539C>T	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.995C>T	16.37:g.30941539C>T	ENSP00000369666:p.Ser332Phe					FBXL19_uc002dzz.1_Missense_Mutation_p.S20F|FBXL19_uc002eaa.1_Missense_Mutation_p.S231F	p.S332F	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN			7	1153	+			332			Ser-rich.		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.995C>T	CCDS45465.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278828	0.80692	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.29917	1.55;1.86	5.15	5.15	0.70609	.	0.643358	0.13667	U	0.371155	T	0.37812	0.1017	N	0.14661	0.345	0.53688	D	0.99997	D;D	0.69078	0.995;0.997	D;D	0.78314	0.979;0.991	T	0.08889	-1.0700	10	0.11485	T	0.65	-7.6788	17.4031	0.87466	0.0:1.0:0.0:0.0	.	332;289	Q6PCT2;Q6PCT2-2	FXL19_HUMAN;.	F	312;332	ENSP00000339712:S312F;ENSP00000369666:S332F	ENSP00000339712:S312F	S	+	2	0	FBXL19	30849040	1.000000	0.71417	0.904000	0.35570	0.921000	0.55340	6.135000	0.71696	2.409000	0.81822	0.655000	0.94253	TCC		0.667	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		14	57	0	0	0	0	14	57				
HSD3B7	80270	broad.mit.edu	37	16	30998163	30998163	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:30998163C>T	ENST00000297679.5	+	6	627	c.534C>T	c.(532-534)gtC>gtT	p.V178V	HSD3B7_ENST00000353250.5_Intron|HSD3B7_ENST00000262520.6_Intron|AC135048.1_ENST00000602217.1_5'Flank	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	178					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCACCAGGTCCGTGGGGGGC	0.677																																						uc002eaf.2		NA																	0					0						c.(532-534)GTC>GTT		hydroxy-delta-5-steroid dehydrogenase, 3 beta-							57.0	57.0	57.0					16																	30998163		2197	4300	6497	SO:0001819	synonymous_variant	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30998163C>T	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.534C>T	16.37:g.30998163C>T						HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Silent_p.V178V	p.V178V	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN			6	640	+			178					Q96M28|Q9BSN9	Silent	SNP	ENST00000297679.5	37	c.534C>T	CCDS10698.1																																																																																				0.677	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			9	59	0	0	0	0	9	59				
STX4	6810	broad.mit.edu	37	16	31046325	31046325	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:31046325C>T	ENST00000313843.3	+	5	657	c.342C>T	c.(340-342)aaC>aaT	p.N114N	STX4_ENST00000394998.1_Silent_p.N112N|STX4_ENST00000493902.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	114					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CTGATGAGAACTATAACTCCG	0.408																																						uc002eal.2		NA																	0					0						c.(340-342)AAC>AAT		syntaxin 4							83.0	91.0	88.0					16																	31046325		2197	4300	6497	SO:0001819	synonymous_variant	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31046325C>T	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.342C>T	16.37:g.31046325C>T						STX4_uc002eak.2_Silent_p.N112N|STX4_uc002eam.2_Silent_p.N36N	p.N114N	NM_004604	NP_004595	Q12846	STX4_HUMAN			5	566	+			114			Cytoplasmic (Potential).|Potential.		A8MXY0|Q15525|Q6FHE8	Silent	SNP	ENST00000313843.3	37	c.342C>T	CCDS10700.1																																																																																				0.408	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		21	129	0	0	0	0	21	129				
ITGAD	3681	broad.mit.edu	37	16	31414965	31414965	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:31414965G>A	ENST00000389202.2	+	7	752	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	235	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCTGACAGTGGTGTAAGCAAC	0.627																																						uc002ebv.1		NA																	0				skin(1)	1						c.(703-705)GTG>ATG		integrin, alpha D precursor							89.0	74.0	79.0					16																	31414965		2197	4300	6497	SO:0001630	splice_region_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31414965G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.704+1G>A	16.37:g.31414965G>A						ITGAD_uc010vfl.1_Missense_Mutation_p.V235M|ITGAD_uc010cap.1_Missense_Mutation_p.V235M|ITGAD_uc002ebw.1_Missense_Mutation_p.V46M	p.V235M	NM_005353	NP_005344	Q13349	ITAD_HUMAN			7	752	+			235			Extracellular (Potential).|VWFA.		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.703G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839197	0.71373	.	.	ENSG00000156886	ENST00000316569;ENST00000444228;ENST00000389202	D	0.84223	-1.82	4.7	2.71	0.32032	von Willebrand factor, type A (3);	.	.	.	.	D	0.83977	0.5371	M	0.64997	1.995	0.34303	D	0.684625	P;P;P	0.50156	0.912;0.932;0.932	B;P;P	0.48227	0.371;0.571;0.571	D	0.85199	0.1014	9	0.56958	D	0.05	.	6.9148	0.24354	0.0929:0.3387:0.5684:0.0	.	235;251;235	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	M	99;251;235	ENSP00000373854:V235M	ENSP00000323325:V99M	V	+	1	0	ITGAD	31322466	1.000000	0.71417	0.940000	0.37924	0.332000	0.28634	2.626000	0.46460	0.576000	0.29452	0.508000	0.49915	GTG		0.627	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	Missense_Mutation	20	48	0	0	0	0	20	48				
ITGAD	3681	broad.mit.edu	37	16	31421727	31421727	+	Silent	SNP	C	C	T	rs267604525		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:31421727C>T	ENST00000389202.2	+	11	1144	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	365					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGCCTCTTCCTGGGGGCTG	0.577																																						uc002ebv.1		NA																	0				skin(1)	1						c.(1093-1095)TTC>TTT		integrin, alpha D precursor							80.0	80.0	80.0					16																	31421727		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31421727C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1095C>T	16.37:g.31421727C>T						ITGAD_uc010cap.1_Silent_p.F365F	p.F365F	NM_005353	NP_005344	Q13349	ITAD_HUMAN			11	1144	+			365			Extracellular (Potential).|FG-GAP 3.		Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.1095C>T	CCDS32438.1																																																																																				0.577	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		24	88	0	0	0	0	24	88				
ITFG1	81533	broad.mit.edu	37	16	47345268	47345268	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:47345268G>A	ENST00000320640.6	-	10	1181	c.953C>T	c.(952-954)cCa>cTa	p.P318L	ITFG1_ENST00000544001.2_Missense_Mutation_p.P205L|ITFG1_ENST00000568047.1_5'UTR|RP11-474B12.1_ENST00000564739.1_RNA|Y_RNA_ENST00000410835.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	318						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ATCCACAAATGGCACAAAGCC	0.393																																						uc002eet.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(952-954)CCA>CTA		integrin alpha FG-GAP repeat containing 1							120.0	104.0	109.0					16																	47345268		2202	4300	6502	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47345268G>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.953C>T	16.37:g.47345268G>A	ENSP00000319918:p.Pro318Leu					ITFG1_uc010vgg.1_Missense_Mutation_p.P63L|ITFG1_uc010vgh.1_Missense_Mutation_p.P205L	p.P318L	NM_030790	NP_110417	Q8TB96	TIP_HUMAN			10	1015	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	318					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.953C>T	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589045	0.66105	.	.	ENSG00000129636	ENST00000320640;ENST00000542691;ENST00000544001	T;T	0.20463	2.07;2.09	5.73	5.73	0.89815	.	0.126644	0.53938	D	0.000054	T	0.37705	0.1013	L	0.55213	1.73	0.80722	D	1	P;D	0.63046	0.587;0.992	B;P	0.60068	0.266;0.868	T	0.01172	-1.1429	10	0.30078	T	0.28	-15.8834	16.2092	0.82147	0.0:0.0:0.8666:0.1334	.	205;318	F5GXC5;Q8TB96	.;TIP_HUMAN	L	318;63;205	ENSP00000319918:P318L;ENSP00000441062:P205L	ENSP00000319918:P318L	P	-	2	0	ITFG1	45902769	1.000000	0.71417	0.993000	0.49108	0.417000	0.31264	6.410000	0.73294	2.704000	0.92352	0.650000	0.86243	CCA		0.393	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		19	41	0	0	0	0	19	41				
ABCC11	85320	broad.mit.edu	37	16	48218385	48218385	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:48218385G>A	ENST00000394747.1	-	22	3573	c.3224C>T	c.(3223-3225)tCc>tTc	p.S1075F	ABCC11_ENST00000353782.5_Missense_Mutation_p.S1075F|ABCC11_ENST00000394748.1_Missense_Mutation_p.S1075F|ABCC11_ENST00000356608.2_Missense_Mutation_p.S1075F|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1075	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GACTTTAAAGGAGTAGGGGGT	0.557																																						uc002eff.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3223-3225)TCC>TTC		ATP-binding cassette, sub-family C, member 11							113.0	105.0	108.0					16																	48218385		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218385G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3224C>T	16.37:g.48218385G>A	ENSP00000378230:p.Ser1075Phe					ABCC11_uc002efg.1_Missense_Mutation_p.S1075F|ABCC11_uc002efh.1_Missense_Mutation_p.S1075F|ABCC11_uc010cbg.1_RNA	p.S1075F	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			22	3574	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1075			Cytoplasmic (Potential).|ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3224C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702612	0.30232	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.44	3.47	0.39725	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, transmembrane domain (1);	0.528586	0.20039	N	0.100547	D	0.95560	0.8557	M	0.67397	2.05	0.23082	N	0.998325	P;P	0.52463	0.928;0.953	P;D	0.64237	0.541;0.923	D	0.89274	0.3607	10	0.87932	D	0	-4.9649	6.9674	0.24631	0.0882:0.0:0.7404:0.1714	.	1075;1075	Q96J66-2;Q96J66	.;ABCCB_HUMAN	F	1075	ENSP00000311326:S1075F;ENSP00000349017:S1075F;ENSP00000378231:S1075F;ENSP00000378230:S1075F	ENSP00000311326:S1075F	S	-	2	0	ABCC11	46775886	0.698000	0.27777	0.009000	0.14445	0.052000	0.14988	2.520000	0.45554	0.663000	0.31027	0.467000	0.42956	TCC		0.557	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		14	60	0	0	0	0	14	60				
C16orf78	123970	broad.mit.edu	37	16	49430376	49430376	+	Missense_Mutation	SNP	G	G	A	rs546860439		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:49430376G>A	ENST00000299191.3	+	4	554	c.437G>A	c.(436-438)cGg>cAg	p.R146Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	146						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TCCACTCAGCGGCCAAACCCA	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20009	0.0		0.0	False		,,,				2504	0.0					uc002efr.2		NA																	0				central_nervous_system(1)	1						c.(436-438)CGG>CAG		hypothetical protein LOC123970							97.0	92.0	94.0					16																	49430376		2199	4300	6499	SO:0001583	missense	123970							g.chr16:49430376G>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.437G>A	16.37:g.49430376G>A	ENSP00000299191:p.Arg146Gln						p.R146Q	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			4	480	+			146						Missense_Mutation	SNP	ENST00000299191.3	37	c.437G>A	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546011	0.65198	.	.	ENSG00000166152	ENST00000299191	T	0.60171	0.21	5.38	4.41	0.53225	.	0.000000	0.44483	D	0.000457	T	0.71082	0.3298	M	0.69823	2.125	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61520	-0.7046	9	.	.	.	-35.1264	9.331	0.38021	0.0965:0.0:0.9035:0.0	.	146	Q8WTQ4	CP078_HUMAN	Q	146	ENSP00000299191:R146Q	.	R	+	2	0	C16orf78	47987877	0.012000	0.17670	0.064000	0.19789	0.004000	0.04260	1.975000	0.40569	2.660000	0.90430	0.655000	0.94253	CGG		0.507	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		39	69	0	0	0	0	39	69				
SALL1	6299	broad.mit.edu	37	16	51173737	51173737	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:51173737G>A	ENST00000251020.4	-	2	2429	c.2396C>T	c.(2395-2397)cCc>cTc	p.P799L	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.P702L|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	799					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTAGCTGTCGGGGACTGGGGT	0.502																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(2395-2397)CCC>CTC		sal-like 1 isoform a							103.0	109.0	107.0					16																	51173737		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173737G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2396C>T	16.37:g.51173737G>A	ENSP00000251020:p.Pro799Leu					SALL1_uc010vgr.1_Missense_Mutation_p.P702L|SALL1_uc010cbv.2_Intron	p.P799L	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2427	-		all_cancers(37;0.0322)	799					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2396C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474742	0.26511	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.09445	3.0;2.98	5.34	5.34	0.76211	.	0.315537	0.39407	N	0.001376	T	0.16938	0.0407	M	0.72479	2.2	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.05835	-1.0861	10	0.22706	T	0.39	.	19.0945	0.93244	0.0:0.0:1.0:0.0	.	799	Q9NSC2	SALL1_HUMAN	L	799;702;763	ENSP00000251020:P799L;ENSP00000407914:P702L	ENSP00000251020:P799L	P	-	2	0	SALL1	49731238	1.000000	0.71417	0.036000	0.18154	0.016000	0.09150	8.004000	0.88535	2.511000	0.84671	0.454000	0.30748	CCC		0.502	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		58	113	0	0	0	0	58	113				
IRX3	79191	broad.mit.edu	37	16	54319187	54319187	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:54319187C>T	ENST00000329734.3	-	2	1318	c.606G>A	c.(604-606)gaG>gaA	p.E202E		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	202	Asp/Glu-rich (acidic).				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						AAGCGTTTCCCTCCTCGTCAG	0.647																																					GBM(143;1830 1866 4487 4646 37383)	uc002eht.1		NA																	0					0						c.(604-606)GAG>GAA		iroquois homeobox 3							67.0	55.0	59.0					16																	54319187		2198	4300	6498	SO:0001819	synonymous_variant	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319187C>T	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.606G>A	16.37:g.54319187C>T							p.E202E	NM_024336	NP_077312	P78415	IRX3_HUMAN			2	1022	-			202			Asp/Glu-rich (acidic).		Q7Z4A4|Q7Z4A5|Q8IVC6	Silent	SNP	ENST00000329734.3	37	c.606G>A	CCDS10750.1																																																																																				0.647	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			19	27	0	0	0	0	19	27				
IRX6	79190	broad.mit.edu	37	16	55362877	55362877	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:55362877C>T	ENST00000290552.7	+	5	2319	c.987C>T	c.(985-987)ttC>ttT	p.F329F	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	329					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AAGCTGACTTCCTCTCGGCGG	0.647																																						uc002ehy.2		NA																	0				central_nervous_system(5)|ovary(1)	6						c.(985-987)TTC>TTT		iroquois homeobox protein 6							44.0	46.0	45.0					16																	55362877		2198	4299	6497	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362877C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.987C>T	16.37:g.55362877C>T						IRX6_uc002ehx.2_Silent_p.F329F	p.F329F	NM_024335	NP_077311	P78412	IRX6_HUMAN			5	1520	+			329					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.987C>T	CCDS32449.1																																																																																				0.647	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		24	46	0	0	0	0	24	46				
GNAO1	2775	broad.mit.edu	37	16	56377846	56377846	+	Intron	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:56377846G>A	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Missense_Mutation_p.G350D	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AACCTGCGGGGCTGTGGACTC	0.627																																						uc002eit.3		NA																	0				lung(1)|breast(1)	2						c.(1048-1050)GGC>GAC		guanine nucleotide binding protein, alpha							108.0	82.0	91.0					16																	56377846		2198	4300	6498	SO:0001627	intron_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56377846G>A		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+7074G>A	16.37:g.56377846G>A						GNAO1_uc002eiu.3_Intron	p.G350D	NM_138736	NP_620073	P09471	GNAO_HUMAN			8	1946	+		all_neural(199;0.159)	350					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.1049G>A	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589942	0.28357	.	.	ENSG00000087258	ENST00000262494	T	0.81163	-1.46	4.58	4.58	0.56647	.	.	.	.	.	T	0.53674	0.1811	N	0.00683	-1.26	0.80722	D	1	B	0.24043	0.096	B	0.31686	0.134	T	0.60840	-0.7183	9	0.02654	T	1	.	17.7684	0.88485	0.0:0.0:1.0:0.0	.	350	P09471-2	.	D	350	ENSP00000262494:G350D	ENSP00000262494:G350D	G	+	2	0	GNAO1	54935347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.617000	0.54181	2.278000	0.76064	0.561000	0.74099	GGC		0.627	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		6	54	0	0	0	0	6	54				
NLRC5	84166	broad.mit.edu	37	16	57088699	57088699	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:57088699C>T	ENST00000262510.6	+	25	3768	c.3543C>T	c.(3541-3543)ttC>ttT	p.F1181F	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000436936.1_Silent_p.F1181F|NLRC5_ENST00000308149.7_Silent_p.F1181F|NLRC5_ENST00000539144.1_Silent_p.F1181F	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1181					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AAAGCCCCTTCCTGCTGGCCA	0.587																																						uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(3541-3543)TTC>TTT		nucleotide-binding oligomerization domains 27							180.0	186.0	184.0					16																	57088699		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57088699C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3543C>T	16.37:g.57088699C>T						NLRC5_uc002ekn.2_Silent_p.F900F|NLRC5_uc002ekl.2_Silent_p.F986F|NLRC5_uc002ekm.2_Silent_p.F956F|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Silent_p.F97F|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Silent_p.F97F	p.F1181F	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			25	3768	+		all_neural(199;0.225)	1181			LRR 12.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.3543C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	1.014	-0.687106	0.03328	.	.	ENSG00000140853	ENST00000538805	.	.	.	4.88	3.93	0.45458	.	.	.	.	.	T	0.60521	0.2275	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58042	-0.7706	4	.	.	.	.	10.6308	0.45534	0.0:0.7731:0.2269:0.0	.	.	.	.	S	934	.	.	P	+	1	0	NLRC5	55646200	0.910000	0.30920	0.998000	0.56505	0.073000	0.16967	0.147000	0.16202	1.267000	0.44247	0.557000	0.71058	CCT		0.587	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		46	230	0	0	0	0	46	230				
CPNE2	221184	broad.mit.edu	37	16	57151428	57151428	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:57151428C>T	ENST00000535318.2	+	6	817	c.456C>T	c.(454-456)tcC>tcT	p.S152S	CPNE2_ENST00000565874.1_Silent_p.S152S|CPNE2_ENST00000537605.1_Silent_p.S50S|CPNE2_ENST00000290776.8_Silent_p.S152S			Q96FN4	CPNE2_HUMAN	copine II	152	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AGGAGCTGTCCGACAACCGCG	0.652																																						uc002eks.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(454-456)TCC>TCT		copine II							54.0	48.0	50.0					16																	57151428		2197	4300	6497	SO:0001819	synonymous_variant	221184							g.chr16:57151428C>T		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.456C>T	16.37:g.57151428C>T						CPNE2_uc010cct.1_Silent_p.S178S|CPNE2_uc010ccu.1_Silent_p.S152S	p.S152S	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN			5	685	+		all_neural(199;0.224)	152			C2 2.		Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.456C>T	CCDS10774.1																																																																																				0.652	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		8	27	0	0	0	0	8	27				
CCDC113	29070	broad.mit.edu	37	16	58287927	58287927	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:58287927C>T	ENST00000219299.4	+	3	333	c.254C>T	c.(253-255)tCc>tTc	p.S85F	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	85						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGATCCAAATCCCGGACAGGT	0.493																																						uc002ene.2		NA																	0					0						c.(253-255)TCC>TTC		coiled-coil domain containing 113 isoform 1							115.0	98.0	104.0					16																	58287927		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58287927C>T	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.254C>T	16.37:g.58287927C>T	ENSP00000219299:p.Ser85Phe					CCDC113_uc010vid.1_Intron	p.S85F	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN			3	333	+			85					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.254C>T	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641243	0.29157	.	.	ENSG00000103021	ENST00000219299	T	0.35605	1.3	5.55	4.58	0.56647	.	0.867557	0.10596	N	0.656266	T	0.39226	0.1070	M	0.68952	2.095	0.29045	N	0.884866	P	0.45902	0.868	B	0.40038	0.317	T	0.39440	-0.9614	10	0.72032	D	0.01	0.319	10.7393	0.46143	0.0:0.9109:0.0:0.0891	.	85	Q9H0I3	CC113_HUMAN	F	85	ENSP00000219299:S85F	ENSP00000219299:S85F	S	+	2	0	CCDC113	56845428	0.989000	0.36119	0.635000	0.29338	0.009000	0.06853	2.301000	0.43628	1.305000	0.44909	0.655000	0.94253	TCC		0.493	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		9	74	0	0	0	0	9	74				
NDRG4	65009	broad.mit.edu	37	16	58537726	58537726	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:58537726G>A	ENST00000570248.1	+	2	152	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	NDRG4_ENST00000568640.1_Missense_Mutation_p.G34S|NDRG4_ENST00000563799.1_Missense_Mutation_p.G16S|NDRG4_ENST00000394282.4_Missense_Mutation_p.G68S|NDRG4_ENST00000394279.2_Missense_Mutation_p.G48S|NDRG4_ENST00000258187.5_Missense_Mutation_p.G48S|NDRG4_ENST00000356752.4_Missense_Mutation_p.G46S|NDRG4_ENST00000562999.1_Missense_Mutation_p.G16S|NDRG4_ENST00000566192.1_Missense_Mutation_p.G16S|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000569923.1_5'UTR	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	16					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GACACCCTACGGCCTTCTGCA	0.622																																						uc002eno.2		NA																	0				skin(1)	1						c.(46-48)GGC>AGC		NDRG family member 4 isoform 1							95.0	80.0	85.0					16																	58537726		2198	4300	6498	SO:0001583	missense	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58537726G>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.46G>A	16.37:g.58537726G>A	ENSP00000457659:p.Gly16Ser					NDRG4_uc002enk.2_Missense_Mutation_p.G48S|NDRG4_uc002enm.2_Missense_Mutation_p.G68S|NDRG4_uc010vif.1_Missense_Mutation_p.G48S|NDRG4_uc010cdk.2_Missense_Mutation_p.G16S|NDRG4_uc010vig.1_Missense_Mutation_p.G46S|NDRG4_uc010vih.1_5'UTR|NDRG4_uc010vii.1_Missense_Mutation_p.G34S|NDRG4_uc002enp.2_Missense_Mutation_p.G16S|NDRG4_uc002enq.1_5'Flank	p.G16S	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN			2	152	+			16					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	ENST00000570248.1	37	c.46G>A	CCDS58466.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122145	0.77436	.	.	ENSG00000103034	ENST00000258187;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.91561	3.22	0.80722	D	1	P;D;P;D;D;P;P	0.89917	0.72;1.0;0.782;0.993;0.999;0.914;0.762	B;D;B;P;P;B;B	0.69479	0.22;0.964;0.343;0.71;0.904;0.198;0.141	D	0.83816	0.0244	10	0.87932	D	0	-18.2055	15.445	0.75223	0.0:0.0:1.0:0.0	.	34;46;16;16;16;68;48	B4DK66;B4DSW5;Q9ULP0-5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;.;NDRG4_HUMAN;.;.	S	48;68;48;46	ENSP00000258187:G48S;ENSP00000377823:G68S;ENSP00000377820:G48S;ENSP00000349193:G46S	ENSP00000258187:G48S	G	+	1	0	NDRG4	57095227	1.000000	0.71417	0.884000	0.34674	0.432000	0.31715	9.407000	0.97325	1.960000	0.56953	0.561000	0.74099	GGC		0.622	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			8	51	0	0	0	0	8	51				
CDH8	1006	broad.mit.edu	37	16	61859073	61859073	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:61859073T>A	ENST00000577390.1	-	5	1632	c.678A>T	c.(676-678)aaA>aaT	p.K226N	CDH8_ENST00000584337.1_Missense_Mutation_p.K226N|CDH8_ENST00000577730.1_Missense_Mutation_p.K226N|CDH8_ENST00000299345.6_Missense_Mutation_p.K226N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	226	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAAGGGCAGTTTTTATAATAG	0.448																																						uc002eog.1		NA																	0				ovary(6)|skin(2)|breast(1)	9						c.(676-678)AAA>AAT		cadherin 8, type 2 preproprotein							87.0	78.0	81.0					16																	61859073		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61859073T>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.678A>T	16.37:g.61859073T>A	ENSP00000462701:p.Lys226Asn					CDH8_uc002eoh.2_5'UTR	p.K226N	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	5	930	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	226			Extracellular (Potential).|Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.678A>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894407	0.72639	.	.	ENSG00000150394	ENST00000299345	T	0.52983	0.64	6.02	3.81	0.43845	Cadherin (4);Cadherin-like (1);	0.041188	0.85682	D	0.000000	T	0.50446	0.1616	L	0.38175	1.15	0.41626	D	0.988992	D	0.55605	0.972	P	0.58873	0.847	T	0.52177	-0.8610	10	0.72032	D	0.01	.	8.2184	0.31526	0.0:0.21:0.0:0.79	.	226	P55286	CADH8_HUMAN	N	226	ENSP00000299345:K226N	ENSP00000299345:K226N	K	-	3	2	CDH8	60416574	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.053000	0.30442	1.111000	0.41721	0.528000	0.53228	AAA		0.448	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		18	44	0	0	0	0	18	44				
CDH11	1009	broad.mit.edu	37	16	65006865	65006865	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:65006865T>C	ENST00000268603.4	-	9	1947	c.1332A>G	c.(1330-1332)aaA>aaG	p.K444K	CDH11_ENST00000394156.3_Silent_p.K444K|CDH11_ENST00000566827.1_Silent_p.K318K	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TATCCAGAGGTTTTGTAGTTT	0.403			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(1330-1332)AAA>AAG		cadherin 11, type 2 preproprotein							110.0	112.0	112.0					16																	65006865		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65006865T>C	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1332A>G	16.37:g.65006865T>C		TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Silent_p.K444K|CDH11_uc010vin.1_Silent_p.K318K	p.K444K	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	9	1766	-		Ovarian(137;0.0973)	444			Cadherin 4.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1332A>G	CCDS10803.1																																																																																				0.403	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		16	42	0	0	0	0	16	42				
DYNC1LI2	1783	broad.mit.edu	37	16	66768138	66768138	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:66768138C>T	ENST00000258198.2	-	6	982	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.R182Q|DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.R220Q|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	259					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GCAGAACCTCCGCAGGTGTGA	0.527																																						uc002eqb.1		NA																	0				central_nervous_system(3)|skin(1)	4						c.(775-777)CGG>CAG		dynein, cytoplasmic, light intermediate							130.0	103.0	112.0					16																	66768138		2200	4300	6500	SO:0001583	missense	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66768138C>T	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.776G>A	16.37:g.66768138C>T	ENSP00000258198:p.Arg259Gln					DYNC1LI2_uc010vis.1_Missense_Mutation_p.R182Q|DYNC1LI2_uc010vit.1_Missense_Mutation_p.R259Q|DYNC1LI2_uc010viu.1_Missense_Mutation_p.R220Q	p.R259Q	NM_006141	NP_006132	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	6	807	-		Ovarian(137;0.0563)	259					A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	37	c.776G>A	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940837	0.92526	.	.	ENSG00000135720	ENST00000258198;ENST00000443351;ENST00000440564	T;T;T	0.36878	1.23;1.23;1.23	5.02	3.07	0.35406	.	0.162139	0.53938	N	0.000051	T	0.63920	0.2552	M	0.90705	3.14	0.80722	D	1	B;D;P;D	0.89917	0.095;1.0;0.924;0.996	B;D;P;D	0.80764	0.037;0.994;0.569;0.937	T	0.70263	-0.4920	10	0.87932	D	0	-1.8795	11.5645	0.50796	0.0:0.8526:0.0:0.1474	.	220;259;182;259	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	Q	259;182;220	ENSP00000258198:R259Q;ENSP00000394289:R182Q;ENSP00000408566:R220Q	ENSP00000258198:R259Q	R	-	2	0	DYNC1LI2	65325639	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	0.812000	0.34326	0.655000	0.94253	CGG		0.527	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		14	55	0	0	0	0	14	55				
KCTD19	146212	broad.mit.edu	37	16	67328009	67328009	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67328009C>T	ENST00000304372.5	-	12	1711	c.1656G>A	c.(1654-1656)aaG>aaA	p.K552K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	552					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCAGGTTTCCCTTAGCCTTGT	0.562																																						uc002esu.2		NA																	0				skin(1)	1						c.(1654-1656)AAG>AAA		potassium channel tetramerisation domain							223.0	215.0	217.0					16																	67328009		2014	4191	6205	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67328009C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1656G>A	16.37:g.67328009C>T						KCTD19_uc002est.2_Silent_p.K324K|KCTD19_uc010vjj.1_Silent_p.K295K	p.K552K	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	1707	-		Ovarian(137;0.192)	552					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.1656G>A	CCDS42179.1																																																																																				0.562	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		43	196	0	0	0	0	43	196				
RLTPR	146206	broad.mit.edu	37	16	67690200	67690200	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67690200C>T	ENST00000334583.6	+	34	4140	c.3812C>T	c.(3811-3813)gCt>gTt	p.A1271V	RLTPR_ENST00000545661.1_Missense_Mutation_p.A1235V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1271					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TCTGTGTCTGCTGGTGAGTGA	0.587																																						uc002etn.2		NA																	0				breast(1)	1						c.(3811-3813)GCT>GTT		RGD motif, leucine rich repeats, tropomodulin							114.0	115.0	115.0					16																	67690200		2089	4210	6299	SO:0001583	missense	146206							g.chr16:67690200C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3812C>T	16.37:g.67690200C>T	ENSP00000334958:p.Ala1271Val					RLTPR_uc010vjr.1_Missense_Mutation_p.A1235V	p.A1271V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	34	3932	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	1271					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.3812C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230049	0.79688	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.17370	2.28;2.37	5.1	4.13	0.48395	.	0.125121	0.36519	N	0.002551	T	0.26810	0.0656	N	0.24115	0.695	0.33526	D	0.592993	P;D	0.69078	0.629;0.997	B;D	0.70716	0.229;0.97	T	0.39292	-0.9621	10	0.62326	D	0.03	-22.3879	13.8494	0.63487	0.0:0.8467:0.1533:0.0	.	1235;1271	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	V	1271;368;1235	ENSP00000334958:A1271V;ENSP00000441481:A1235V	ENSP00000334958:A1271V	A	+	2	0	RLTPR	66247701	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	4.458000	0.60095	1.245000	0.43885	0.491000	0.48974	GCT		0.587	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		23	96	0	0	0	0	23	96				
ACD	65057	broad.mit.edu	37	16	67694198	67694198	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67694198G>A	ENST00000393919.4	-	1	448	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000458121.2_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.L62F|PARD6A_ENST00000602551.1_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	62					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.L62F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCCTCGGAAGAGGAAGCTCC	0.736																																						uc002etq.3		NA																	1	Substitution - Missense(1)		skin(1)	pancreas(1)	1						c.(184-186)CTT>TTT		adrenocortical dysplasia homolog isoform 1							14.0	19.0	17.0					16																	67694198		2027	4195	6222	SO:0001583	missense	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67694198G>A	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.184C>T	16.37:g.67694198G>A	ENSP00000377496:p.Leu62Phe					ACD_uc002etp.3_Missense_Mutation_p.L62F|ACD_uc002etr.3_Missense_Mutation_p.L62F|ACD_uc010vjt.1_Missense_Mutation_p.L52F|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	p.L62F	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	521	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	62					Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.184C>T	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163103	0.78226	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.38887	1.11;1.12	4.46	2.39	0.29439	.	0.601451	0.12929	N	0.427506	T	0.22244	0.0536	N	0.12182	0.205	0.25856	N	0.983888	B;B	0.28552	0.137;0.215	B;B	0.20384	0.013;0.029	T	0.15464	-1.0436	10	0.87932	D	0	-0.0317	6.6483	0.22947	0.2253:0.0:0.7747:0.0	.	62;62	Q96AP0;Q96AP0-2	ACD_HUMAN;.	F	62	ENSP00000219251:L62F;ENSP00000377496:L62F	ENSP00000219251:L62F	L	-	1	0	ACD	66251699	1.000000	0.71417	0.997000	0.53966	0.041000	0.13682	0.640000	0.24705	1.056000	0.40484	0.563000	0.77884	CTT		0.736	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		7	35	0	0	0	0	7	35				
C16orf86	388284	broad.mit.edu	37	16	67701384	67701384	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67701384C>T	ENST00000403458.4	+	2	443	c.288C>T	c.(286-288)gtC>gtT	p.V96V	ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000602409.1_5'Flank|C16orf86_ENST00000602974.1_Intron	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	96										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCCCGTGGTCTCCATTGTGA	0.677																																						uc002ety.2		NA																	0					0						c.(286-288)GTC>GTT		hypothetical protein LOC388284							13.0	15.0	15.0					16																	67701384		2187	4288	6475	SO:0001819	synonymous_variant	388284							g.chr16:67701384C>T		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.288C>T	16.37:g.67701384C>T						C16orf48_uc002etv.1_5'Flank|C16orf48_uc002etw.1_5'Flank|C16orf48_uc010cem.1_5'Flank|C16orf86_uc002etx.1_5'UTR|C16orf86_uc002etz.2_RNA	p.V96V	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	2	445	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	96					B5MCW6	Silent	SNP	ENST00000403458.4	37	c.288C>T	CCDS32468.2																																																																																				0.677	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		3	20	0	0	0	0	3	20				
RANBP10	57610	broad.mit.edu	37	16	67763288	67763288	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67763288G>A	ENST00000317506.3	-	10	1362	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	RANBP10_ENST00000411657.2_Missense_Mutation_p.S299F|RANBP10_ENST00000536251.1_Missense_Mutation_p.S187F|RANBP10_ENST00000602677.1_Missense_Mutation_p.S416F|RANBP10_ENST00000448631.2_Missense_Mutation_p.S360F	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	416	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		cgaggaggaggaggaggacga	0.567																																						uc002eud.2		NA																	0				ovary(1)	1						c.(1246-1248)TCC>TTC		RAN binding protein 10							318.0	334.0	329.0					16																	67763288		2198	4300	6498	SO:0001583	missense	57610							g.chr16:67763288G>A	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1247C>T	16.37:g.67763288G>A	ENSP00000316589:p.Ser416Phe					RANBP10_uc010ceo.2_Missense_Mutation_p.S187F|RANBP10_uc010vju.1_Missense_Mutation_p.S360F|RANBP10_uc010vjv.1_Missense_Mutation_p.S299F|RANBP10_uc010vjw.1_Missense_Mutation_p.S77F	p.S416F	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	10	1363	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	416			Ser-rich.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.1247C>T	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077651	0.76528	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.55	5.55	0.83447	.	0.275476	0.35436	N	0.003216	T	0.67069	0.2854	L	0.29908	0.895	0.80722	D	1	D;D;P	0.69078	0.997;0.996;0.916	D;D;P	0.83275	0.996;0.948;0.808	T	0.68633	-0.5357	9	0.56958	D	0.05	-17.0296	17.2654	0.87085	0.0:0.0:1.0:0.0	.	299;360;416	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	F	416;360;187;299	.	ENSP00000316589:S416F	S	-	2	0	RANBP10	66320789	1.000000	0.71417	0.954000	0.39281	0.506000	0.33950	9.068000	0.93961	2.623000	0.88846	0.563000	0.77884	TCC		0.567	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		22	64	0	0	0	0	22	64				
MARVELD3	91862	broad.mit.edu	37	16	71674608	71674609	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:71674608_71674609CC>TT	ENST00000299952.4	+	3	954_955	c.911_912CC>TT	c.(910-912)gCC>gTT	p.A304V	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	307	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTCACGGAGGCCGCCTTCAGCC	0.559																																						uc002fau.2		NA																	0				skin(1)	1						c.(910-912)GCC>GTT		MARVEL domain containing 3 isoform 1																																				SO:0001583	missense	91862					integral to membrane		g.chr16:71674608_71674609CC>TT	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	Exception_encountered	16.37:g.71674608_71674609delinsTT	ENSP00000299952:p.Ala304Val					PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	p.A304V	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN			3	974_975	+		Ovarian(137;0.125)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A8K820|H3BQM5|Q96MJ4	Missense_Mutation	DNP	ENST00000299952.4	37	c.911_912CC>TT	CCDS32478.1																																																																																				0.559	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		21	32	0	0	0	0	21	32				
AP1G1	164	broad.mit.edu	37	16	71784220	71784220	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:71784220G>A	ENST00000299980.4	-	14	1741	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	AP1G1_ENST00000569748.1_Missense_Mutation_p.R434C|AP1G1_ENST00000393512.3_Missense_Mutation_p.R437C|AP1G1_ENST00000433195.2_Missense_Mutation_p.R457C|AP1G1_ENST00000423132.2_Missense_Mutation_p.R437C|AP1G1_ENST00000564155.1_5'Flank	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	434					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GCATCATCACGAACATAACTT	0.373																																						uc010cgg.2		NA																	0				ovary(2)	2						c.(1300-1302)CGT>TGT		adaptor-related protein complex 1, gamma 1							116.0	112.0	113.0					16																	71784220		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71784220G>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1300C>T	16.37:g.71784220G>A	ENSP00000299980:p.Arg434Cys					AP1G1_uc002fba.2_Missense_Mutation_p.R437C|AP1G1_uc002fbb.2_Missense_Mutation_p.R457C	p.R434C	NM_001128	NP_001119	O43747	AP1G1_HUMAN			14	1614	-		Ovarian(137;0.125)	434					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.1300C>T	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055067	0.93793	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000425422	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.18	5.18	0.71444	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.974;0.974;0.988	T	0.60214	-0.7307	10	0.66056	D	0.02	-8.216	18.6902	0.91580	0.0:0.0:1.0:0.0	.	434;457;437	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	C	434;437;437;457;519	ENSP00000299980:R434C;ENSP00000377148:R437C;ENSP00000409153:R437C;ENSP00000403259:R457C	ENSP00000299980:R434C	R	-	1	0	AP1G1	70341721	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.090000	0.71397	2.414000	0.81942	0.462000	0.41574	CGT		0.373	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			12	99	0	0	0	0	12	99				
BCAR1	9564	broad.mit.edu	37	16	75301841	75301841	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:75301841C>T	ENST00000393422.2	-	1	110	c.38G>A	c.(37-39)aGg>aAg	p.R13K	BCAR1_ENST00000418647.3_5'Flank|BCAR1_ENST00000420641.3_5'Flank|BCAR1_ENST00000535626.2_5'Flank|BCAR1_ENST00000546196.1_5'Flank|BCAR1_ENST00000538440.2_5'Flank	NM_001170715.1	NP_001164186.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	0	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGTGTGGGCCTGGGGGCAGC	0.617																																						uc002fdx.2		NA																	0				central_nervous_system(5)|breast(2)|prostate(1)	8						c.(37-39)AGG>AAG		breast cancer anti-estrogen resistance 1							24.0	28.0	27.0					16																	75301841		1564	3574	5138	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75301841C>T	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000393422.2:c.38G>A	16.37:g.75301841C>T	ENSP00000377074:p.Arg13Lys					BCAR1_uc010vnb.1_5'Flank|BCAR1_uc002fdw.2_5'Flank|BCAR1_uc010vnc.1_5'Flank|BCAR1_uc010vnd.1_5'Flank	p.R13K	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	1	111	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000393422.2	37	c.38G>A	CCDS54043.1	.	.	.	.	.	.	.	.	.	.	C	9.493	1.101188	0.20632	.	.	ENSG00000050820	ENST00000393422	T	0.28895	1.59	2.61	0.23	0.15372	.	.	.	.	.	T	0.11922	0.0290	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33317	-0.9873	9	0.05959	T	0.93	.	2.608	0.04883	0.0:0.1734:0.2833:0.5433	.	13	E9PCV2	.	K	13	ENSP00000377074:R13K	ENSP00000377074:R13K	R	-	2	0	BCAR1	73859342	0.000000	0.05858	0.000000	0.03702	0.900000	0.52787	0.013000	0.13310	0.008000	0.14787	0.313000	0.20887	AGG		0.617	BCAR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269016.2	NM_014567		3	15	0	0	0	0	3	15				
VAT1L	57687	broad.mit.edu	37	16	77910306	77910306	+	Silent	SNP	C	C	T	rs150412236		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:77910306C>T	ENST00000302536.2	+	5	915	c.762C>T	c.(760-762)ctC>ctT	p.L254L	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	254							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TGGATTGCCTCTGTGGGGACA	0.483																																						uc002ffg.1		NA																	0				central_nervous_system(1)	1						c.(760-762)CTC>CTT		vesicle amine transport protein 1 homolog (T.							225.0	201.0	209.0					16																	77910306		2198	4300	6498	SO:0001819	synonymous_variant	57687						oxidoreductase activity|zinc ion binding	g.chr16:77910306C>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.762C>T	16.37:g.77910306C>T							p.L254L	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			5	859	+			254					Q8IYW8	Silent	SNP	ENST00000302536.2	37	c.762C>T	CCDS32492.1																																																																																				0.483	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		27	121	0	0	0	0	27	121				
VAT1L	57687	broad.mit.edu	37	16	77918599	77918599	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:77918599G>A	ENST00000302536.2	+	7	1130	c.977G>A	c.(976-978)gGc>gAc	p.G326D		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	326							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTCAAACAAGGCCGGGCGGGC	0.532																																						uc002ffg.1		NA																	0				central_nervous_system(1)	1						c.(976-978)GGC>GAC		vesicle amine transport protein 1 homolog (T.							53.0	52.0	52.0					16																	77918599		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77918599G>A	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.977G>A	16.37:g.77918599G>A	ENSP00000303129:p.Gly326Asp						p.G326D	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			7	1074	+			326					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.977G>A	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303297	0.40795	.	.	ENSG00000171724	ENST00000302536	T	0.08102	3.13	5.92	5.92	0.95590	NAD(P)-binding domain (1);	0.185211	0.56097	D	0.000025	T	0.05823	0.0152	N	0.17674	0.51	0.53005	D	0.999963	B	0.10296	0.003	B	0.14578	0.011	T	0.42548	-0.9445	10	0.13108	T	0.6	-2.7714	11.612	0.51066	0.1113:0.0:0.8887:0.0	.	326	Q9HCJ6	VAT1L_HUMAN	D	326	ENSP00000303129:G326D	ENSP00000303129:G326D	G	+	2	0	VAT1L	76476100	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.134000	0.71689	2.809000	0.96659	0.557000	0.71058	GGC		0.532	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		10	29	0	0	0	0	10	29				
VAT1L	57687	broad.mit.edu	37	16	77918680	77918680	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:77918680C>T	ENST00000302536.2	+	7	1211	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	353							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTGGTGGACTCCTTGTGGGCT	0.483																																						uc002ffg.1		NA																	0				central_nervous_system(1)	1						c.(1057-1059)TCC>TTC		vesicle amine transport protein 1 homolog (T.							37.0	40.0	39.0					16																	77918680		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77918680C>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1058C>T	16.37:g.77918680C>T	ENSP00000303129:p.Ser353Phe						p.S353F	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			7	1155	+			353					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.1058C>T	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729791	0.89390	.	.	ENSG00000171724	ENST00000302536	T	0.09723	2.95	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.26608	-1.0098	10	0.87932	D	0	-2.2086	20.1963	0.98243	0.0:1.0:0.0:0.0	.	353	Q9HCJ6	VAT1L_HUMAN	F	353	ENSP00000303129:S353F	ENSP00000303129:S353F	S	+	2	0	VAT1L	76476181	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	7.487000	0.81328	2.878000	0.98634	0.650000	0.86243	TCC		0.483	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		3	19	0	0	0	0	3	19				
WWOX	51741	broad.mit.edu	37	16	78458951	78458951	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:78458951C>T	ENST00000566780.1	+	7	1156	c.790C>T	c.(790-792)Cga>Tga	p.R264*	WWOX_ENST00000408984.3_Splice_Site_p.R264*|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	264	Interaction with MAPT. {ECO:0000250}.|Mediates targeting to the mitochondria. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		AGAGTCCCATCGGTGGGTTTG	0.473																																						uc002ffk.2		NA																	0					0						c.(790-792)CGA>TGA		WW domain-containing oxidoreductase isoform 1							104.0	102.0	103.0					16																	78458951		1965	4166	6131	SO:0001630	splice_region_variant	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78458951C>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.791+1C>T	16.37:g.78458951C>T						WWOX_uc010vnk.1_Nonsense_Mutation_p.R151*|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	p.R264*	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	7	915	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	264			Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Nonsense_Mutation	SNP	ENST00000566780.1	37	c.790C>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201830	0.58234	.	.	ENSG00000186153	ENST00000408984	.	.	.	5.66	0.388	0.16264	.	0.100221	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5661	0.76294	0.4598:0.5402:0.0:0.0	.	.	.	.	X	264	.	ENSP00000386161:R264X	R	+	1	2	WWOX	77016452	1.000000	0.71417	0.997000	0.53966	0.777000	0.43975	2.238000	0.43070	0.068000	0.16574	-0.262000	0.10625	CGA		0.473	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1		Nonsense_Mutation	40	81	0	0	0	0	40	81				
CDYL2	124359	broad.mit.edu	37	16	80646545	80646545	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:80646545G>A	ENST00000570137.2	-	5	1351	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	CDYL2_ENST00000562812.1_Missense_Mutation_p.P400L|CDYL2_ENST00000563890.1_Missense_Mutation_p.P400L|CDYL2_ENST00000566173.1_Missense_Mutation_p.P400L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	399						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CAGGATCTGGGGGAAGGTGTA	0.632																																						uc002ffs.2		NA																	0				central_nervous_system(1)	1						c.(1195-1197)CCC>CTC		chromodomain protein, Y-like 2							78.0	80.0	79.0					16																	80646545		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80646545G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1196C>T	16.37:g.80646545G>A	ENSP00000476295:p.Pro399Leu						p.P399L	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			5	1301	-			399					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.1196C>T	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251168	0.95305	.	.	ENSG00000166446	ENST00000299564	T	0.70986	-0.53	4.95	4.95	0.65309	Crotonase, core (1);	0.131649	0.52532	D	0.000067	D	0.84800	0.5552	M	0.82630	2.6	0.80722	D	1	D	0.69078	0.997	D	0.69142	0.962	D	0.87083	0.2167	10	0.72032	D	0.01	.	17.3496	0.87320	0.0:0.0:1.0:0.0	.	399	Q8N8U2	CDYL2_HUMAN	L	399	ENSP00000299564:P399L	ENSP00000299564:P399L	P	-	2	0	CDYL2	79204046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.562000	0.86427	0.650000	0.86243	CCC		0.632	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		18	102	0	0	0	0	18	102				
CENPN	55839	broad.mit.edu	37	16	81045703	81045703	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:81045703C>T	ENST00000305850.5	+	2	949	c.159C>T	c.(157-159)atC>atT	p.I53I	CENPN_ENST00000428963.2_Silent_p.I53I|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000299572.5_Silent_p.I53I|CENPN_ENST00000439957.3_Silent_p.I53I|CENPN_ENST00000569461.1_3'UTR|CENPN_ENST00000393335.3_Silent_p.I53I	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	53					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						AGCACTTGATCCATCTGTGTG	0.403																																						uc002ffx.2		NA																	0					0						c.(157-159)ATC>ATT		centromere protein N isoform 2							75.0	76.0	75.0					16																	81045703		2203	4300	6503	SO:0001819	synonymous_variant	55839				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr16:81045703C>T	AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.159C>T	16.37:g.81045703C>T						CENPN_uc002ffw.3_Silent_p.I53I|CENPN_uc010vnl.1_Silent_p.I53I|CENPN_uc010vnm.1_Silent_p.I53I|CENPN_uc002ffy.3_Silent_p.I53I	p.I53I	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN			2	949	+			53					A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Silent	SNP	ENST00000305850.5	37	c.159C>T	CCDS42200.1																																																																																				0.403	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1	NM_018455		8	57	0	0	0	0	8	57				
PKD1L2	114780	broad.mit.edu	37	16	81134881	81134881	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:81134881C>T	ENST00000534142.1	-	0	1614				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTCCCCTTCCTCCGACAGCT	0.458																																						uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(7225-7227)GAG>GAA		polycystin 1-like 2 isoform a							41.0	42.0	42.0					16																	81134881		1949	4158	6107			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81134881C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81134881C>T						PKD1L2_uc002fgf.1_Silent_p.E209E|PKD1L2_uc002fgg.1_RNA	p.E2409E	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			45	7227	-			2409			Extracellular (Potential).|Interaction with GNAS and GNAI1.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000534142.1	37	c.7227G>A																																																																																					0.458	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			9	40	0	0	0	0	9	40				
CMIP	80790	broad.mit.edu	37	16	81725433	81725433	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:81725433C>T	ENST00000537098.3	+	11	1514	c.1442C>T	c.(1441-1443)cCa>cTa	p.P481L	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.P328L|CMIP_ENST00000539778.2_Missense_Mutation_p.P387L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	481						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CAACCCATTCCATTCCCCAAA	0.547																																						uc002fgp.2		NA																	0					0						c.(1441-1443)CCA>CTA		c-Maf-inducing protein isoform C-mip							128.0	122.0	124.0					16																	81725433		1972	4154	6126	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81725433C>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1442C>T	16.37:g.81725433C>T	ENSP00000446100:p.Pro481Leu					CMIP_uc002fgq.1_Missense_Mutation_p.P387L|CMIP_uc010vnq.1_Missense_Mutation_p.P294L|CMIP_uc002fgr.1_Missense_Mutation_p.P328L|CMIP_uc010vnr.1_5'Flank	p.P481L	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN			11	1514	+			447					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1442C>T	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976683	0.92982	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.05081	3.5;3.5	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.991;0.991;0.991	T	0.01093	-1.1454	10	0.72032	D	0.01	.	18.7939	0.91985	0.0:1.0:0.0:0.0	.	328;387;481	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	L	481;387;387;294	ENSP00000446100:P481L;ENSP00000440401:P387L	ENSP00000381120:P387L	P	+	2	0	CMIP	80282934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.244000	0.78228	2.422000	0.82143	0.655000	0.94253	CCA		0.547	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		12	24	0	0	0	0	12	24				
KCNG4	93107	broad.mit.edu	37	16	84256431	84256431	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:84256431C>T	ENST00000308251.4	-	3	1020	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	318					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCGCCGTCCTCCGGGGGCTCC	0.647																																						uc010voc.1		NA																	0				breast(3)	3						c.(952-954)GAG>AAG		potassium voltage-gated channel, subfamily G,							37.0	41.0	39.0					16																	84256431		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256431C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.952G>A	16.37:g.84256431C>T	ENSP00000312129:p.Glu318Lys						p.E318K	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			3	1073	-			318					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.952G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	3.783	-0.045227	0.07452	.	.	ENSG00000168418	ENST00000308251	D	0.98437	-4.93	5.61	5.61	0.85477	Ion transport (1);	1.025130	0.07714	N	0.942553	D	0.93936	0.8059	N	0.04387	-0.21	0.09310	N	0.999995	B	0.15141	0.012	B	0.15870	0.014	D	0.85342	0.1096	10	0.29301	T	0.29	.	12.002	0.53237	0.0:0.9217:0.0:0.0783	.	318	Q8TDN1	KCNG4_HUMAN	K	318	ENSP00000312129:E318K	ENSP00000312129:E318K	E	-	1	0	KCNG4	82813932	0.000000	0.05858	0.069000	0.20011	0.002000	0.02628	0.841000	0.27613	2.631000	0.89168	0.655000	0.94253	GAG		0.647	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		3	18	0	0	0	0	3	18				
KCNG4	93107	broad.mit.edu	37	16	84256561	84256561	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:84256561G>A	ENST00000308251.4	-	3	890	c.822C>T	c.(820-822)tcC>tcT	p.S274S		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	274					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGAACTCCAGGGAGAACCAGG	0.567																																						uc010voc.1		NA																	0				breast(3)	3						c.(820-822)TCC>TCT		potassium voltage-gated channel, subfamily G,							61.0	64.0	63.0					16																	84256561		2200	4300	6500	SO:0001819	synonymous_variant	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256561G>A	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.822C>T	16.37:g.84256561G>A							p.S274S	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			3	943	-			274			Helical; Name=Segment S2; (Potential).		Q96H24	Silent	SNP	ENST00000308251.4	37	c.822C>T	CCDS10945.1																																																																																				0.567	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		3	26	0	0	0	0	3	26				
IRF8	3394	broad.mit.edu	37	16	85953824	85953824	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:85953824C>T	ENST00000268638.5	+	8	1520	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	IRF8_ENST00000562492.1_Silent_p.L162L	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	366					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AACTCATTCTCGTGCAGGTAA	0.507																																						uc002fjh.2		NA																	0				breast(2)|ovary(1)	3						c.(1096-1098)CTC>CTT		interferon regulatory factor 8							54.0	50.0	51.0					16																	85953824		2198	4300	6498	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85953824C>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.1098C>T	16.37:g.85953824C>T						IRF8_uc010chp.2_RNA	p.L366L	NM_002163	NP_002154	Q02556	IRF8_HUMAN			8	1155	+		Prostate(104;0.0771)	366					A0AV82	Silent	SNP	ENST00000268638.5	37	c.1098C>T	CCDS10956.1																																																																																				0.507	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		8	17	0	0	0	0	8	17				
BANP	54971	broad.mit.edu	37	16	88061239	88061239	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:88061239C>T	ENST00000393207.1	+	8	1243	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	BANP_ENST00000286122.7_Missense_Mutation_p.S341F|BANP_ENST00000479780.2_Missense_Mutation_p.S310F|BANP_ENST00000355022.4_Missense_Mutation_p.S310F|BANP_ENST00000538234.1_Missense_Mutation_p.S349F|BANP_ENST00000393208.2_Missense_Mutation_p.S310F|BANP_ENST00000355163.5_Missense_Mutation_p.S316F	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	341	Interaction with CUX1 and HDAC1. {ECO:0000250}.|Necessary and sufficient for TP53 activation. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCAACTCGTCCTCCTACTGC	0.697																																						uc002fkr.2		NA																	0					0						c.(1018-1020)TCC>TTC		BTG3 associated nuclear protein isoform b							49.0	52.0	51.0					16																	88061239		2198	4300	6498	SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88061239C>T	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1022C>T	16.37:g.88061239C>T	ENSP00000376902:p.Ser341Phe					BANP_uc002fkp.2_Missense_Mutation_p.S310F|BANP_uc002fkq.2_Missense_Mutation_p.S310F|BANP_uc010vow.1_Missense_Mutation_p.S348F|BANP_uc002fks.3_Missense_Mutation_p.S309F|BANP_uc002fko.1_Missense_Mutation_p.S246F|BANP_uc010vov.1_Missense_Mutation_p.S315F	p.S340F	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	8	1243	+			341			Necessary and sufficient for TP53 activation (By similarity).|Interaction with CUX1 and HDAC1 (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.1019C>T	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369000	0.42003	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.14	5.14	0.70334	.	0.141752	0.48767	D	0.000162	T	0.45975	0.1369	L	0.46157	1.445	0.22918	N	0.998561	P;P;P;D;P;P	0.76494	0.8;0.929;0.61;0.999;0.729;0.951	P;P;B;D;P;P	0.79108	0.548;0.766;0.352;0.992;0.555;0.739	T	0.35176	-0.9799	10	0.87932	D	0	.	17.5861	0.87982	0.0:1.0:0.0:0.0	.	349;316;310;341;310;310	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	F	341;316;306;310;310;310;310;349;341	ENSP00000286122:S341F;ENSP00000347290:S316F;ENSP00000432508:S310F;ENSP00000376903:S310F;ENSP00000347125:S310F;ENSP00000444352:S349F;ENSP00000376902:S341F	ENSP00000286122:S341F	S	+	2	0	BANP	86618740	0.996000	0.38824	0.670000	0.29842	0.005000	0.04900	4.112000	0.57845	2.378000	0.81104	0.462000	0.41574	TCC		0.697	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		6	71	0	0	0	0	6	71				
ANKRD11	29123	broad.mit.edu	37	16	89341587	89341587	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:89341587G>A	ENST00000301030.4	-	10	7943	c.7483C>T	c.(7483-7485)Ccc>Tcc	p.P2495S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P2495S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2495					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCAGGGAGGGAGGGGGTGCG	0.637																																						uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(7483-7485)CCC>TCC		ankyrin repeat domain 11							14.0	13.0	14.0					16																	89341587		2193	4299	6492	SO:0001583	missense	29123					nucleus		g.chr16:89341587G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7483C>T	16.37:g.89341587G>A	ENSP00000301030:p.Pro2495Ser					ANKRD11_uc002fmy.1_Missense_Mutation_p.P2495S	p.P2495S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	10	7944	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2495					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.7483C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201235	0.94997	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.39592	1.07;1.07	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000003	T	0.64789	0.2630	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67122	-0.5750	10	0.66056	D	0.02	.	18.5917	0.91215	0.0:0.0:1.0:0.0	.	2495	Q6UB99	ANR11_HUMAN	S	2495	ENSP00000301030:P2495S;ENSP00000367581:P2495S	ENSP00000301030:P2495S	P	-	1	0	ANKRD11	87869088	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.561000	0.98142	2.564000	0.86499	0.650000	0.86243	CCC		0.637	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		9	15	0	0	0	0	9	15				
SPATA2L	124044	broad.mit.edu	37	16	89764657	89764657	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:89764657G>A	ENST00000289805.5	-	3	428	c.360C>T	c.(358-360)ctC>ctT	p.L120L	SPATA2L_ENST00000335360.7_Silent_p.L120L	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	120								p.L120L(1)		breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCTCTTCAGGAGGAGGTCGT	0.647																																						uc002foj.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(358-360)CTC>CTT		spermatogenesis associated 2-like							141.0	148.0	145.0					16																	89764657		2198	4300	6498	SO:0001819	synonymous_variant	124044							g.chr16:89764657G>A	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.360C>T	16.37:g.89764657G>A						SPATA2L_uc002fok.2_Silent_p.L120L	p.L120L	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	425	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	120					D3DX85|Q8NHV3	Silent	SNP	ENST00000289805.5	37	c.360C>T	CCDS10985.1																																																																																				0.647	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		30	211	0	0	0	0	30	211				
GLOD4	51031	broad.mit.edu	37	17	685749	685749	+	5'Flank	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:685749C>T	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|GLOD4_ENST00000301329.6_5'Flank|RNMTL1_ENST00000304478.4_Missense_Mutation_p.S44F			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GTGTTTCCTTCCGGAGAGGTG	0.657																																						uc002frw.2		NA																	0				ovary(1)	1						c.(130-132)TCC>TTC		RNA methyltransferase like 1							35.0	39.0	37.0					17																	685749		2203	4300	6503	SO:0001631	upstream_gene_variant	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:685749C>T	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685749C>T	Exception_encountered					GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank	p.S44F	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	1	237	+			44					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.131C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.74|11.74	1.727500|1.727500	0.30593|0.30593	.|.	.|.	ENSG00000167699|ENSG00000171861	ENST00000397393|ENST00000304478	.|T	.|0.18960	.|2.18	5.31|5.31	2.13|2.13	0.27403|0.27403	.|.	.|0.995724	.|0.08147	.|N	.|0.990627	T|T	0.21468|0.21468	0.0517|0.0517	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.30090|0.30090	-0.9990|-0.9990	6|10	0.87932|0.54805	D|T	0|0.06	.|.	5.7656|5.7656	0.18225|0.18225	0.1421:0.643:0.1373:0.0776|0.1421:0.643:0.1373:0.0776	.|.	.|44	.|Q9HC36	.|RMTL1_HUMAN	K|F	122|44	.|ENSP00000306080:S44F	ENSP00000380548:E122K|ENSP00000306080:S44F	E|S	-|+	1|2	0|0	GLOD4|RNMTL1	632499|632499	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.591000|0.591000	0.36615|0.36615	0.181000|0.181000	0.16880|0.16880	0.279000|0.279000	0.22186|0.22186	-0.244000|-0.244000	0.11960|0.11960	GAA|TCC		0.657	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		7	43	0	0	0	0	7	43				
ABR	29	broad.mit.edu	37	17	915171	915171	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:915171C>T	ENST00000302538.5	-	19	2162	c.2016G>A	c.(2014-2016)gaG>gaA	p.E672E	ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Silent_p.E123E|ABR_ENST00000544583.2_Silent_p.E626E|ABR_ENST00000291107.2_Silent_p.E635E|ABR_ENST00000574437.1_Silent_p.E626E|ABR_ENST00000536794.2_Silent_p.E454E	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	672	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TACCCCTCTTCTCCACCTCCT	0.652																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(2014-2016)GAG>GAA		active breakpoint cluster region-related							219.0	162.0	181.0					17																	915171		2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:915171C>T	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2016G>A	17.37:g.915171C>T						ABR_uc002fse.2_Silent_p.E626E|ABR_uc010vqf.1_Silent_p.E123E|ABR_uc010vqg.1_Silent_p.E454E|ABR_uc002fsg.2_Silent_p.E635E|ABR_uc002fsh.1_Silent_p.E280E|ABR_uc002fsf.2_Silent_p.E209E	p.E672E	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	19	2126	-			672			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.2016G>A	CCDS10999.1																																																																																				0.652	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			16	49	0	0	0	0	16	49				
TUSC5	286753	broad.mit.edu	37	17	1183397	1183397	+	Silent	SNP	G	G	A	rs75025906	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1183397G>A	ENST00000333813.3	+	1	441	c.102G>A	c.(100-102)gaG>gaA	p.E34E		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	34			E -> D (in dbSNP:rs75025906). {ECO:0000269|PubMed:12660825}.		response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCAAGGCAGAGAACAAGGATG	0.607																																						uc002fsi.1		NA																	0				skin(2)	2						c.(100-102)GAG>GAA		LOST1							70.0	75.0	73.0					17																	1183397		1970	4160	6130	SO:0001819	synonymous_variant	286753				response to biotic stimulus	integral to membrane		g.chr17:1183397G>A	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.102G>A	17.37:g.1183397G>A							p.E34E	NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	441	+			34		E -> D.			A6NMK4	Silent	SNP	ENST00000333813.3	37	c.102G>A	CCDS42225.1																																																																																				0.607	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		18	70	0	0	0	0	18	70				
PRPF8	10594	broad.mit.edu	37	17	1584266	1584266	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1584266G>A	ENST00000572621.1	-	6	1214	c.949C>T	c.(949-951)Cct>Tct	p.P317S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P317S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	317					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TACAAGTAAGGAAAAGCAATC	0.443																																						uc002fte.2		NA																	0				lung(4)|ovary(2)	6						c.(949-951)CCT>TCT		U5 snRNP-specific protein							205.0	192.0	196.0					17																	1584266		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1584266G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.949C>T	17.37:g.1584266G>A	ENSP00000460348:p.Pro317Ser						p.P317S	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	7	1063	-			317					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.949C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	35	5.417505	0.96092	.	.	ENSG00000174231	ENST00000304992	D	0.91011	-2.77	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.96399	0.8825	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96952	0.9695	10	0.87932	D	0	-16.9197	19.2652	0.93983	0.0:0.0:1.0:0.0	.	317	Q6P2Q9	PRP8_HUMAN	S	317	ENSP00000304350:P317S	ENSP00000304350:P317S	P	-	1	0	PRPF8	1531016	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.830000	0.99415	2.533000	0.85409	0.650000	0.86243	CCT		0.443	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			47	212	0	0	0	0	47	212				
PRPF8	10594	broad.mit.edu	37	17	1584903	1584903	+	Silent	SNP	G	G	A	rs145114613		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1584903G>A	ENST00000572621.1	-	5	1000	c.735C>T	c.(733-735)ctC>ctT	p.L245L	PRPF8_ENST00000304992.6_Silent_p.L245L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	245					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGTCTGTCAGGAGCTGATTAG	0.473																																						uc002fte.2		NA																	0				lung(4)|ovary(2)	6						c.(733-735)CTC>CTT		U5 snRNP-specific protein		G		0,4406		0,0,2203	160.0	157.0	158.0		735	0.5	1.0	17	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRPF8	NM_006445.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		245/2336	1584903	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1584903G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.735C>T	17.37:g.1584903G>A							p.L245L	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	6	849	-			245					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.735C>T	CCDS11010.1																																																																																				0.473	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			42	149	0	0	0	0	42	149				
SERPINF1	5176	broad.mit.edu	37	17	1674431	1674431	+	Missense_Mutation	SNP	C	C	T	rs148005190		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1674431C>T	ENST00000254722.4	+	4	555	c.392C>T	c.(391-393)gCc>gTc	p.A131V	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	131					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						ACGGTCACTGCCCCCCAGAAG	0.547																																						uc002ftl.2		NA																	0				ovary(1)	1						c.(391-393)GCC>GTC		serine (or cysteine) proteinase inhibitor, clade							72.0	64.0	67.0					17																	1674431		2203	4300	6503	SO:0001583	missense	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1674431C>T	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.392C>T	17.37:g.1674431C>T	ENSP00000254722:p.Ala131Val					SERPINF1_uc010cjw.2_Intron	p.A131V	NM_002615	NP_002606	P36955	PEDF_HUMAN			4	549	+			131					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	c.392C>T	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285275	0.23478	.	.	ENSG00000132386	ENST00000254722	D	0.84873	-1.91	5.21	3.13	0.36017	Serpin domain (3);	0.262720	0.42682	D	0.000666	T	0.79511	0.4458	L	0.53249	1.67	0.41469	D	0.988094	P	0.35923	0.528	B	0.31946	0.138	T	0.75662	-0.3240	10	0.45353	T	0.12	.	10.9206	0.47163	0.1213:0.5498:0.3289:0.0	.	131	P36955	PEDF_HUMAN	V	131	ENSP00000254722:A131V	ENSP00000254722:A131V	A	+	2	0	SERPINF1	1621181	0.017000	0.18338	0.546000	0.28166	0.017000	0.09413	0.519000	0.22862	0.536000	0.28733	-0.188000	0.12872	GCC		0.547	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		11	43	0	0	0	0	11	43				
METTL16	79066	broad.mit.edu	37	17	2323366	2323366	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:2323366G>A	ENST00000263092.6	-	10	1714	c.1587C>T	c.(1585-1587)gcC>gcT	p.A529A	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_Silent_p.A311A	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	529							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TCTCCACTAAGGCATCGTCCA	0.502																																						uc002fut.2		NA																	0					0						c.(1585-1587)GCC>GCT		methyltransferase 10 domain containing							81.0	86.0	85.0					17																	2323366		2050	4210	6260	SO:0001819	synonymous_variant	79066						methyltransferase activity	g.chr17:2323366G>A	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1587C>T	17.37:g.2323366G>A						METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.A311A	p.A529A	NM_024086	NP_076991	Q86W50	MET16_HUMAN			10	1735	-			529					D3DTI8|Q86TE5|Q96T16|Q9BVG7	Silent	SNP	ENST00000263092.6	37	c.1587C>T	CCDS42232.1																																																																																				0.502	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		9	52	0	0	0	0	9	52				
OR1A1	8383	broad.mit.edu	37	17	3118956	3118956	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:3118956C>T	ENST00000304094.1	+	1	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L14L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						AATTCATCCTCCTGGGAGTTA	0.418																																						uc010vrc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(40-42)CTC>CTT		olfactory receptor, family 1, subfamily A,							112.0	96.0	101.0					17																	3118956		2203	4300	6503	SO:0001819	synonymous_variant	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3118956C>T	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.42C>T	17.37:g.3118956C>T							p.L14L	NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN			1	42	+			14			Extracellular (Potential).		A5D914|Q6IFM1|Q6NTA9|Q96R87	Silent	SNP	ENST00000304094.1	37	c.42C>T	CCDS11022.1																																																																																				0.418	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		17	67	0	0	0	0	17	67				
ZZEF1	23140	broad.mit.edu	37	17	3980240	3980240	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:3980240G>A	ENST00000381638.2	-	20	3157	c.3033C>T	c.(3031-3033)tcC>tcT	p.S1011S	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1011							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTGAGAAAAGGGATTCCAAAA	0.368																																						uc002fxe.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(3031-3033)TCC>TCT		zinc finger, ZZ type with EF hand domain 1							72.0	73.0	73.0					17																	3980240		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3980240G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3033C>T	17.37:g.3980240G>A						ZZEF1_uc002fxk.1_Silent_p.S1012S	p.S1011S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			20	3097	-			1011					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.3033C>T	CCDS11043.1																																																																																				0.368	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		10	44	0	0	0	0	10	44				
ARRB2	409	broad.mit.edu	37	17	4620534	4620535	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:4620534_4620535CC>TT	ENST00000269260.2	+	6	613_614	c.380_381CC>TT	c.(379-381)tCC>tTT	p.S127F	ARRB2_ENST00000346341.2_Missense_Mutation_p.S112F|ARRB2_ENST00000412477.3_Missense_Mutation_p.S148F|ARRB2_ENST00000381488.6_Missense_Mutation_p.S112F|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.S127F|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	127					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CTTCCATGCTCCGTCACACTGC	0.569																																						uc002fyj.2		NA																	0					0						c.(379-381)TCC>TTT		arrestin, beta 2 isoform 1																																				SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4620534_4620535CC>TT		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	Exception_encountered	17.37:g.4620534_4620535delinsTT	ENSP00000269260:p.Ser127Phe					ARRB2_uc002fyk.2_Missense_Mutation_p.S112F|ARRB2_uc002fyl.2_Missense_Mutation_p.S127F|ARRB2_uc010vsg.1_Missense_Mutation_p.S148F|ARRB2_uc002fym.2_Missense_Mutation_p.S112F|ARRB2_uc002fyn.2_5'UTR|ARRB2_uc010ckq.2_5'UTR|ARRB2_uc002fyo.2_5'UTR	p.S127F	NM_004313	NP_004304	P32121	ARRB2_HUMAN			6	608_609	+			127					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	DNP	ENST00000269260.2	37	c.380_381CC>TT	CCDS11050.1																																																																																				0.569	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		13	87	0	0	0	0	13	87				
USP6	9098	broad.mit.edu	37	17	5042964	5042964	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5042964G>A	ENST00000574788.1	+	22	3723	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	USP6_ENST00000250066.6_Missense_Mutation_p.G498E|USP6_ENST00000332776.4_Missense_Mutation_p.G498E|USP6_ENST00000304328.5_Missense_Mutation_p.G181E			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	498					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GAACACTGCGGAGAGGGTGAG	0.602			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1		NA		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(1492-1494)GGA>GAA		ubiquitin specific protease 6							38.0	41.0	40.0					17																	5042964		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042964G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1493G>A	17.37:g.5042964G>A	ENSP00000460380:p.Gly498Glu					USP6_uc002gav.1_Missense_Mutation_p.G498E|USP6_uc010ckz.1_Missense_Mutation_p.G181E|uc002gbd.2_5'Flank	p.G498E	NM_004505	NP_004496	P35125	UBP6_HUMAN			22	3723	+			498					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1493G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	4.443	0.082092	0.08533	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.13538	2.58;3.07;2.64	0.266	-0.532	0.11890	.	0.104022	0.64402	D	0.000002	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	P;P	0.48694	0.914;0.797	B;B	0.35182	0.197;0.093	T	0.41840	-0.9486	9	0.41790	T	0.15	.	.	.	.	.	181;498	P35125-2;P35125	.;UBP6_HUMAN	E	498;498;181	ENSP00000328010:G498E;ENSP00000250066:G498E;ENSP00000305473:G181E	ENSP00000250066:G498E	G	+	2	0	USP6	4983688	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.383000	0.07398	-0.830000	0.04262	-0.849000	0.03036	GGA		0.602	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		7	56	0	0	0	0	7	56				
NUP88	4927	broad.mit.edu	37	17	5323605	5323605	+	5'Flank	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5323605C>T	ENST00000573584.1	-	0	0				RPAIN_ENST00000381209.3_Silent_p.F25F|RPAIN_ENST00000574003.1_Silent_p.F25F|RPAIN_ENST00000381208.5_Silent_p.F25F|RPAIN_ENST00000405578.4_Silent_p.F25F|RPAIN_ENST00000536255.2_Silent_p.F25F|RPAIN_ENST00000327154.6_Silent_p.F25F	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						AAGAGGCTTTCCGGCAGGTGG	0.632																																						uc002gbq.2		NA																	0					0						c.(73-75)TTC>TTT		RPA interacting protein isoform b							50.0	44.0	46.0					17																	5323605		2203	4300	6503	SO:0001631	upstream_gene_variant	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding	g.chr17:5323605C>T	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453		17.37:g.5323605C>T	Exception_encountered					NUP88_uc002gbo.1_5'Flank|NUP88_uc010vsx.1_5'Flank|NUP88_uc010cle.1_5'Flank|NUP88_uc010vsy.1_5'Flank|RPAIN_uc010vsz.1_Silent_p.F25F|RPAIN_uc002gbp.1_Missense_Mutation_p.P79S|RPAIN_uc010vta.1_Silent_p.F25F|RPAIN_uc010vtb.1_Silent_p.F25F|RPAIN_uc002gbs.2_Missense_Mutation_p.P79S|RPAIN_uc002gbt.2_Silent_p.F25F|RPAIN_uc002gbu.2_Missense_Mutation_p.P79S|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Silent_p.F25F	p.F25F	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN			1	645	+			25					D3DTM2|Q9BWE5	Silent	SNP	ENST00000573584.1	37	c.75C>T	CCDS11070.1																																																																																				0.632	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		7	34	0	0	0	0	7	34				
RPAIN	84268	broad.mit.edu	37	17	5329615	5329615	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5329615C>T	ENST00000381209.3	+	5	1055	c.485C>T	c.(484-486)tCt>tTt	p.S162F	RPAIN_ENST00000574003.1_Intron|RPAIN_ENST00000381208.5_Missense_Mutation_p.S162F|RPAIN_ENST00000405578.4_Missense_Mutation_p.S162F|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000327154.6_Intron	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	162					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						TCCATCCCATCTCATGTGAGT	0.488																																						uc002gbq.2		NA																	0					0						c.(484-486)TCT>TTT		RPA interacting protein isoform b							312.0	229.0	257.0					17																	5329615		2203	4300	6503	SO:0001583	missense	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding	g.chr17:5329615C>T	AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000381209.3:c.485C>T	17.37:g.5329615C>T	ENSP00000370606:p.Ser162Phe					RPAIN_uc010vsz.1_Missense_Mutation_p.S162F|RPAIN_uc002gbp.1_Missense_Mutation_p.S178F|RPAIN_uc010vta.1_Intron|RPAIN_uc010vtb.1_Intron|RPAIN_uc002gbs.2_Missense_Mutation_p.S178F|RPAIN_uc002gbt.2_Missense_Mutation_p.S162F|RPAIN_uc002gbu.2_Missense_Mutation_p.S178F|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_Intron|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank	p.S162F	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN			5	1055	+			162			RIP-type.		B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Missense_Mutation	SNP	ENST00000381209.3	37	c.485C>T	CCDS32536.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283119	0.40394	.	.	ENSG00000129197	ENST00000381209;ENST00000381208;ENST00000405578	T;T;T	0.49720	0.88;0.77;0.86	5.22	2.05	0.26809	.	0.377394	0.32430	N	0.006104	T	0.55940	0.1952	M	0.64997	1.995	0.43994	D	0.996694	B;P;B;D	0.57571	0.246;0.899;0.102;0.98	B;P;B;P	0.60415	0.086;0.495;0.051;0.874	T	0.54483	-0.8287	10	0.87932	D	0	-30.4547	6.5398	0.22375	0.1342:0.6634:0.1296:0.0728	.	162;162;162;162	E9PES3;E9PDG9;Q86UA6;B4DI36	.;.;RIP_HUMAN;.	F	162	ENSP00000370606:S162F;ENSP00000370605:S162F;ENSP00000385814:S162F	ENSP00000370605:S162F	S	+	2	0	RPAIN	5270339	0.005000	0.15991	0.341000	0.25589	0.994000	0.84299	0.746000	0.26275	0.320000	0.23234	0.563000	0.77884	TCT		0.488	RPAIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439373.1	NM_001033002		23	91	0	0	0	0	23	91				
DERL2	51009	broad.mit.edu	37	17	5392534	5392534	+	5'Flank	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5392534C>T	ENST00000158771.4	-	0	0				DERL2_ENST00000571968.1_5'Flank|MIS12_ENST00000381165.3_Nonsense_Mutation_p.Q118*|MIS12_ENST00000573759.1_Nonsense_Mutation_p.Q118*	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2						endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						TCAGCATCTCCAGAAAGAAAT	0.378																																						uc002gcd.2		NA																	0					0						c.(352-354)CAG>TAG		MIS12 homolog							80.0	79.0	79.0					17																	5392534		2203	4300	6503	SO:0001631	upstream_gene_variant	79003				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr17:5392534C>T	BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"""Der1-like domain family, member 2"""			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040		17.37:g.5392534C>T	Exception_encountered					MIS12_uc002gce.2_Nonsense_Mutation_p.Q118*	p.Q118*	NM_024039	NP_076944	Q9H081	MIS12_HUMAN			2	681	+			118			Potential.		Q9Y3A7	Nonsense_Mutation	SNP	ENST00000158771.4	37	c.352C>T	CCDS11073.1	.	.	.	.	.	.	.	.	.	.	C	36	5.776687	0.96929	.	.	ENSG00000167842	ENST00000381165	.	.	.	6.08	4.04	0.47022	.	0.160115	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-2.6454	14.8257	0.70110	0.2619:0.738:0.0:0.0	.	.	.	.	X	118	.	ENSP00000370557:Q118X	Q	+	1	0	MIS12	5333258	0.921000	0.31238	0.995000	0.50966	0.994000	0.84299	1.156000	0.31712	0.850000	0.35239	0.591000	0.81541	CAG		0.378	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219825.1	NM_016041		16	49	0	0	0	0	16	49				
PITPNM3	83394	broad.mit.edu	37	17	6364730	6364730	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:6364730C>T	ENST00000262483.8	-	18	2540	c.2453G>A	c.(2452-2454)cGg>cAg	p.R818Q	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.R782Q	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	818					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.R818L(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGCCTTCTGCCGCAGCGGGTC	0.632																																						uc002gdd.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|central_nervous_system(2)	4						c.(2452-2454)CGG>CAG		PITPNM family member 3 isoform 1							113.0	101.0	105.0					17																	6364730		2203	4300	6503	SO:0001583	missense	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6364730C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2453G>A	17.37:g.6364730C>T	ENSP00000262483:p.Arg818Gln					PITPNM3_uc010cln.2_Missense_Mutation_p.R782Q|PITPNM3_uc010clm.2_Missense_Mutation_p.R301Q|PITPNM3_uc002gdc.3_Missense_Mutation_p.R409Q	p.R818Q	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	18	2604	-			818					A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2453G>A	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160601	0.94727	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.76578	-1.03;-1.03	4.94	4.94	0.65067	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.85017	0.5601	M	0.73962	2.25	0.48040	D	0.999573	D;P	0.63046	0.992;0.59	P;B	0.57244	0.816;0.197	D	0.86376	0.1726	10	0.52906	T	0.07	.	15.6383	0.76973	0.0:1.0:0.0:0.0	.	782;818	F8WEW5;Q9BZ71	.;PITM3_HUMAN	Q	818;782	ENSP00000262483:R818Q;ENSP00000407882:R782Q	ENSP00000262483:R818Q	R	-	2	0	PITPNM3	6305454	0.986000	0.35501	1.000000	0.80357	0.991000	0.79684	7.722000	0.84778	2.293000	0.77203	0.462000	0.41574	CGG		0.632	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		42	35	0	0	0	0	42	35				
SLC13A5	284111	broad.mit.edu	37	17	6594098	6594098	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:6594098C>T	ENST00000433363.2	-	10	1670	c.1437G>A	c.(1435-1437)atG>atA	p.M479I	SLC13A5_ENST00000573648.1_Splice_Site_p.M479I|SLC13A5_ENST00000381074.4_Splice_Site_p.M436I|SLC13A5_ENST00000293800.6_Splice_Site_p.M462I	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	479					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGTTACTTACCATGGAGGCAA	0.552																																						uc002gdj.2		NA																	0					0						c.(1435-1437)ATG>ATA		solute carrier family 13, member 5 isoform a							211.0	187.0	195.0					17																	6594098		2203	4300	6503	SO:0001630	splice_region_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6594098C>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1437+1G>A	17.37:g.6594098C>T						SLC13A5_uc010vtf.1_Missense_Mutation_p.M479I|SLC13A5_uc010clq.2_Missense_Mutation_p.M436I|SLC13A5_uc002gdk.2_Missense_Mutation_p.M462I	p.M479I	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN			10	1525	-			479					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.1437G>A	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974553	0.92919	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.02606	4.23;4.23	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	L	0.45137	1.4	0.80722	D	1	D;D;D;P	0.89917	1.0;0.966;0.972;0.952	D;P;P;P	0.97110	1.0;0.805;0.877;0.792	T	0.18053	-1.0349	9	.	.	.	.	15.729	0.77788	0.0:1.0:0.0:0.0	.	479;436;462;479	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	I	479;479;436	ENSP00000406220:M479I;ENSP00000370464:M436I	.	M	-	3	0	SLC13A5	6534822	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.031000	0.76491	2.369000	0.80426	0.655000	0.94253	ATG		0.552	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550	Missense_Mutation	27	107	0	0	0	0	27	107				
ACAP1	9744	broad.mit.edu	37	17	7250425	7250425	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7250425G>A	ENST00000158762.3	+	14	1413	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	403					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGAGCCTGGGGGAGTCGGGCA	0.677																																						uc002ggd.2		NA																	0				breast(2)|large_intestine(1)	3						c.(1207-1209)GGA>AGA		centaurin beta1							38.0	42.0	41.0					17																	7250425		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7250425G>A	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1207G>A	17.37:g.7250425G>A	ENSP00000158762:p.Gly403Arg						p.G403R	NM_014716	NP_055531	Q15027	ACAP1_HUMAN			14	1413	+			403					Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1207G>A	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366535	0.41902	.	.	ENSG00000072818	ENST00000158762	T	0.73575	-0.76	4.77	3.8	0.43715	.	0.542671	0.19147	N	0.121550	T	0.48926	0.1527	N	0.08118	0	0.80722	D	1	P	0.42409	0.779	B	0.34242	0.178	T	0.46133	-0.9213	10	0.24483	T	0.36	.	10.5633	0.45159	0.0944:0.0:0.9056:0.0	.	403	Q15027	ACAP1_HUMAN	R	403	ENSP00000158762:G403R	ENSP00000158762:G403R	G	+	1	0	ACAP1	7191149	0.256000	0.24012	0.580000	0.28601	0.554000	0.35429	2.000000	0.40816	1.237000	0.43756	0.462000	0.41574	GGA		0.677	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		20	16	0	0	0	0	20	16				
DNAH2	146754	broad.mit.edu	37	17	7721717	7721717	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7721717C>T	ENST00000572933.1	+	69	11935	c.10475C>T	c.(10474-10476)cCc>cTc	p.P3492L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3492L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3492	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCTCCAACCCCCACTACAGC	0.522																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(10474-10476)CCC>CTC		dynein heavy chain domain 3							253.0	240.0	244.0					17																	7721717		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7721717C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10475C>T	17.37:g.7721717C>T	ENSP00000458355:p.Pro3492Leu					DNAH2_uc010cnm.1_Missense_Mutation_p.P430L	p.P3492L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			68	10489	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3492			AAA 5 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.10475C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699860	0.88924	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.35421	1.31	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80358	-0.1416	10	0.87932	D	0	.	17.2261	0.86971	0.0:1.0:0.0:0.0	.	3453;3492	Q9P225-2;Q9P225	.;DYH2_HUMAN	L	3453;3492	ENSP00000373825:P3492L	ENSP00000353818:P3453L	P	+	2	0	DNAH2	7662442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.301000	0.78850	2.593000	0.87608	0.655000	0.94253	CCC		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		28	176	0	0	0	0	28	176				
CNTROB	116840	broad.mit.edu	37	17	7849045	7849046	+	Splice_Site	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7849045_7849046GG>AA	ENST00000563694.1	+	13	2659_2660	c.1734_1735GG>AA	c.(1732-1737)ccGGct>ccAAct	p.A579T	CNTROB_ENST00000380262.3_Splice_Site_p.A579T|CNTROB_ENST00000565740.1_Splice_Site_p.A579T|CNTROB_ENST00000380255.3_Splice_Site_p.R524K	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	579	Pro-rich.|Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTCCTGGTCAGGCTCCTCCTGC	0.535																																						uc002gjq.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.e14-1		centrobin, centrosomal BRCA2 interacting protein																																				SO:0001630	splice_region_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7849045_7849046GG>AA	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		Exception_encountered	17.37:g.7849045_7849046delinsAA						CNTROB_uc002gjp.2_Splice_Site_p.A579_splice|CNTROB_uc002gjr.2_Splice_Site_p.A481_splice	p.A579_splice	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			14	2654	+		Prostate(122;0.173)						A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Splice_Site	DNP	ENST00000563694.1	37	c.1735_splice	CCDS11126.1																																																																																				0.535	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051	Missense_Mutation	22	51	0	0	0	0	22	51				
GUCY2D	3000	broad.mit.edu	37	17	7917309	7917309	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7917309C>T	ENST00000254854.4	+	12	2525	c.2375C>T	c.(2374-2376)cCg>cTg	p.P792L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	792	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GCAGAGCAGCCGGAACTTCGG	0.637																																						uc002gjt.2		NA																	0				skin(1)	1						c.(2374-2376)CCG>CTG		guanylate cyclase 2D, membrane (retina-specific)							83.0	82.0	83.0					17																	7917309		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7917309C>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2375C>T	17.37:g.7917309C>T	ENSP00000254854:p.Pro792Leu						p.P792L	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			12	2449	+		Prostate(122;0.157)	792			Protein kinase.|Cytoplasmic (Potential).		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.2375C>T	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994562	0.93167	.	.	ENSG00000132518	ENST00000254854	T	0.70516	-0.49	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000075	D	0.90700	0.7082	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93797	0.7097	10	0.87932	D	0	.	18.2031	0.89846	0.0:1.0:0.0:0.0	.	792	Q02846	GUC2D_HUMAN	L	792	ENSP00000254854:P792L	ENSP00000254854:P792L	P	+	2	0	GUCY2D	7858034	1.000000	0.71417	0.959000	0.39883	0.893000	0.52053	7.244000	0.78228	2.837000	0.97791	0.655000	0.94253	CCG		0.637	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			9	81	0	0	0	0	9	81				
GUCY2D	3000	broad.mit.edu	37	17	7918202	7918202	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7918202G>A	ENST00000254854.4	+	14	2752	c.2602G>A	c.(2602-2604)Ggg>Agg	p.G868R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	868					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CTTGAAGACGGGGACACCAGT	0.597																																						uc002gjt.2		NA																	0				skin(1)	1						c.(2602-2604)GGG>AGG		guanylate cyclase 2D, membrane (retina-specific)							107.0	88.0	94.0					17																	7918202		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7918202G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2602G>A	17.37:g.7918202G>A	ENSP00000254854:p.Gly868Arg						p.G868R	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			14	2676	+		Prostate(122;0.157)	868			Cytoplasmic (Potential).		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.2602G>A	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748902	0.69533	.	.	ENSG00000132518	ENST00000254854	D	0.85955	-2.05	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.53938	D	0.000052	D	0.93848	0.8032	M	0.90425	3.115	0.53688	D	0.999971	D	0.89917	1.0	D	0.91635	0.999	D	0.94664	0.7851	10	0.87932	D	0	.	17.8603	0.88779	0.0:0.0:1.0:0.0	.	868	Q02846	GUC2D_HUMAN	R	868	ENSP00000254854:G868R	ENSP00000254854:G868R	G	+	1	0	GUCY2D	7858927	1.000000	0.71417	0.997000	0.53966	0.216000	0.24613	9.612000	0.98347	2.752000	0.94435	0.655000	0.94253	GGG		0.597	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			33	26	0	0	0	0	33	26				
PFAS	5198	broad.mit.edu	37	17	8161418	8161418	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:8161418C>T	ENST00000314666.6	+	11	1370	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	413					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCTCCAGCTCCCAGACGGCCA	0.622																																						uc002gkr.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(1237-1239)CCA>TCA		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						59.0	59.0	59.0					17																	8161418		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8161418C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1237C>T	17.37:g.8161418C>T	ENSP00000313490:p.Pro413Ser					PFAS_uc010vuv.1_5'UTR	p.P413S	NM_012393	NP_036525	O15067	PUR4_HUMAN			11	1378	+			413					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1237C>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218295	0.39201	.	.	ENSG00000178921	ENST00000314666	T	0.41065	1.01	5.78	5.78	0.91487	PurM, N-terminal-like (1);	0.244642	0.42294	D	0.000726	T	0.40546	0.1121	L	0.48260	1.515	0.80722	D	1	B	0.17038	0.02	B	0.18263	0.021	T	0.11108	-1.0601	10	0.38643	T	0.18	-9.8882	17.4989	0.87726	0.0:1.0:0.0:0.0	.	413	O15067	PUR4_HUMAN	S	413	ENSP00000313490:P413S	ENSP00000313490:P413S	P	+	1	0	PFAS	8102143	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	2.021000	0.41020	2.739000	0.93911	0.561000	0.74099	CCA		0.622	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			17	46	0	0	0	0	17	46				
PFAS	5198	broad.mit.edu	37	17	8169333	8169333	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:8169333A>C	ENST00000314666.6	+	21	2832	c.2699A>C	c.(2698-2700)aAa>aCa	p.K900T	PFAS_ENST00000545834.1_Missense_Mutation_p.K476T	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	900					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GGGCTGCTGAAAGGTGAGTGA	0.612																																						uc002gkr.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(2698-2700)AAA>ACA		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						39.0	38.0	38.0					17																	8169333		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8169333A>C	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2699A>C	17.37:g.8169333A>C	ENSP00000313490:p.Lys900Thr					PFAS_uc010vuv.1_Missense_Mutation_p.K476T|PFAS_uc002gks.2_5'UTR	p.K900T	NM_012393	NP_036525	O15067	PUR4_HUMAN			21	2840	+			900					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.2699A>C	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040687	0.35989	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.32023	1.47;1.47	5.92	-2.56	0.06268	AIR synthase-related protein, C-terminal (2);	0.433395	0.27064	N	0.021116	T	0.25195	0.0612	L	0.58583	1.82	0.29371	N	0.864026	B	0.15473	0.013	B	0.15052	0.012	T	0.20075	-1.0286	10	0.66056	D	0.02	-2.0561	9.0045	0.36104	0.2989:0.143:0.558:0.0	.	900	O15067	PUR4_HUMAN	T	476;900;309	ENSP00000441706:K476T;ENSP00000313490:K900T	ENSP00000313490:K900T	K	+	2	0	PFAS	8110058	0.859000	0.29813	0.954000	0.39281	0.827000	0.46813	1.720000	0.38022	-0.398000	0.07679	0.533000	0.62120	AAA		0.612	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			5	30	0	0	0	0	5	30				
PFAS	5198	broad.mit.edu	37	17	8172385	8172385	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:8172385C>T	ENST00000314666.6	+	28	3953	c.3820C>T	c.(3820-3822)Ccc>Tcc	p.P1274S	PFAS_ENST00000545834.1_Missense_Mutation_p.P850S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1274	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCCTCTGAATCCCAATGGGTC	0.627																																						uc002gkr.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(3820-3822)CCC>TCC		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						64.0	67.0	66.0					17																	8172385		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8172385C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3820C>T	17.37:g.8172385C>T	ENSP00000313490:p.Pro1274Ser					PFAS_uc010vuv.1_Missense_Mutation_p.P850S|PFAS_uc002gks.2_3'UTR	p.P1274S	NM_012393	NP_036525	O15067	PUR4_HUMAN			28	3961	+			1274			Glutamine amidotransferase type-1.		A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.3820C>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490930	0.84962	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.57595	0.39;1.1	5.46	5.46	0.80206	Glutamine amidotransferase type 1 (1);	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89403	0.3697	10	0.87932	D	0	-18.4901	16.8081	0.85711	0.0:1.0:0.0:0.0	.	1274	O15067	PUR4_HUMAN	S	850;1274;683	ENSP00000441706:P850S;ENSP00000313490:P1274S	ENSP00000313490:P1274S	P	+	1	0	PFAS	8113110	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.296000	0.78790	2.544000	0.85801	0.655000	0.94253	CCC		0.627	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			50	29	0	0	0	0	50	29				
MYH13	8735	broad.mit.edu	37	17	10205018	10205018	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10205018C>T	ENST00000418404.3	-	39	5833	c.5670G>A	c.(5668-5670)gaG>gaA	p.E1890E	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.E1890E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1890					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGCCTGCTCCTCCTGCACAG	0.602																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(5668-5670)GAG>GAA		myosin, heavy polypeptide 13, skeletal muscle							38.0	41.0	40.0					17																	10205018		2200	4298	6498	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10205018C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5670G>A	17.37:g.10205018C>T							p.E1890E	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			40	5760	-			1890			Potential.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.5670G>A	CCDS45613.1																																																																																				0.602	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		7	44	0	0	0	0	7	44				
MYH13	8735	broad.mit.edu	37	17	10206584	10206584	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10206584G>A	ENST00000418404.3	-	38	5759	c.5596C>T	c.(5596-5598)Ctt>Ttt	p.L1866F	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.L1866F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1866					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGAGCCTAAGGATATTCTTG	0.577																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(5596-5598)CTT>TTT		myosin, heavy polypeptide 13, skeletal muscle							146.0	151.0	149.0					17																	10206584		2128	4263	6391	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10206584G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5596C>T	17.37:g.10206584G>A	ENSP00000404570:p.Leu1866Phe						p.L1866F	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			39	5686	-			1866			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5596C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	9.830	1.188049	0.21954	.	.	ENSG00000006788	ENST00000252172	T	0.78816	-1.21	3.81	3.81	0.43845	Myosin tail (1);	.	.	.	.	T	0.74596	0.3737	M	0.72118	2.19	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.65747	-0.6093	9	0.52906	T	0.07	.	7.7112	0.28679	0.1896:0.0:0.8104:0.0	.	1866	Q9UKX3	MYH13_HUMAN	F	1866	ENSP00000252172:L1866F	ENSP00000252172:L1866F	L	-	1	0	MYH13	10147309	0.000000	0.05858	0.948000	0.38648	0.919000	0.55068	0.484000	0.22308	2.107000	0.64212	0.561000	0.74099	CTT		0.577	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		35	152	0	0	0	0	35	152				
MYH4	4622	broad.mit.edu	37	17	10354694	10354694	+	Missense_Mutation	SNP	G	G	A	rs189738574		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10354694G>A	ENST00000255381.2	-	28	3924	c.3814C>T	c.(3814-3816)Cgc>Tgc	p.R1272C	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1272					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTATTAAGCGTTGTTGCTCT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		1548	0.0		0.001	False		,,,				2504	0.0					uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(3814-3816)CGC>TGC		myosin, heavy polypeptide 4, skeletal muscle							272.0	230.0	244.0					17																	10354694		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10354694G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3814C>T	17.37:g.10354694G>A	ENSP00000255381:p.Arg1272Cys					uc002gml.1_Intron	p.R1272C	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			28	3925	-			1272			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.3814C>T	CCDS11154.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.8	4.337373	0.81911	.	.	ENSG00000141048	ENST00000255381	D	0.84146	-1.81	5.62	5.62	0.85841	Myosin tail (1);	0.000000	0.37577	U	0.002023	D	0.94371	0.8190	H	0.95470	3.675	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	D	0.95384	0.8475	10	0.87932	D	0	.	14.8306	0.70146	0.0:0.0:0.8561:0.1439	.	1272	Q9Y623	MYH4_HUMAN	C	1272	ENSP00000255381:R1272C	ENSP00000255381:R1272C	R	-	1	0	MYH4	10295419	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	7.868000	0.87116	2.805000	0.96524	0.655000	0.94253	CGC		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		18	70	0	0	0	0	18	70				
MYH4	4622	broad.mit.edu	37	17	10358389	10358389	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10358389G>A	ENST00000255381.2	-	21	2414	c.2304C>T	c.(2302-2304)ttC>ttT	p.F768F	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	768	Actin-binding. {ECO:0000250}.|Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CAGCTTTGAAGAAAACCTTAT	0.403																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(2302-2304)TTC>TTT		myosin, heavy polypeptide 4, skeletal muscle							169.0	108.0	129.0					17																	10358389		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10358389G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2304C>T	17.37:g.10358389G>A						uc002gml.1_Intron	p.F768F	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			21	2415	-			768			Myosin head-like.|Actin-binding (By similarity).			Silent	SNP	ENST00000255381.2	37	c.2304C>T	CCDS11154.1																																																																																				0.403	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		13	71	0	0	0	0	13	71				
MYH4	4622	broad.mit.edu	37	17	10369997	10369997	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10369997C>T	ENST00000255381.2	-	3	176	c.66G>A	c.(64-66)aaG>aaA	p.K22K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	22					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CAATTCGCTCCTTTTCAGACT	0.493																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(64-66)AAG>AAA		myosin, heavy polypeptide 4, skeletal muscle							134.0	120.0	125.0					17																	10369997		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369997C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.66G>A	17.37:g.10369997C>T						uc002gml.1_Intron	p.K22K	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			3	177	-			22			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.66G>A	CCDS11154.1																																																																																				0.493	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		27	104	0	0	0	0	27	104				
MYH1	4619	broad.mit.edu	37	17	10402027	10402027	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10402027G>A	ENST00000226207.5	-	30	4191	c.4097C>T	c.(4096-4098)tCc>tTc	p.S1366F	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1366					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTGGCCTTGGACATTGCTCT	0.572																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4096-4098)TCC>TTC		myosin, heavy chain 1, skeletal muscle, adult							165.0	141.0	149.0					17																	10402027		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10402027G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4097C>T	17.37:g.10402027G>A	ENSP00000226207:p.Ser1366Phe					uc002gml.1_Intron	p.S1366F	NM_005963	NP_005954	P12882	MYH1_HUMAN			30	4191	-			1366			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4097C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957990	0.92726	.	.	ENSG00000109061	ENST00000226207	T	0.80393	-1.37	5.41	5.41	0.78517	Myosin tail (1);	0.000000	0.42964	U	0.000627	D	0.93835	0.8028	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95597	0.8659	10	0.87932	D	0	.	19.5475	0.95305	0.0:0.0:1.0:0.0	.	1366	P12882	MYH1_HUMAN	F	1366	ENSP00000226207:S1366F	ENSP00000226207:S1366F	S	-	2	0	MYH1	10342752	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.711000	0.98735	2.696000	0.92011	0.655000	0.94253	TCC		0.572	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		80	59	0	0	0	0	80	59				
MYH1	4619	broad.mit.edu	37	17	10408289	10408289	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10408289G>T	ENST00000226207.5	-	22	2623	c.2529C>A	c.(2527-2529)ctC>ctA	p.L843L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	843					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACTTTTGAGGAGGGGTTTGA	0.463																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2527-2529)CTC>CTA		myosin, heavy chain 1, skeletal muscle, adult							131.0	122.0	125.0					17																	10408289		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408289G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2529C>A	17.37:g.10408289G>T						uc002gml.1_Intron	p.L843L	NM_005963	NP_005954	P12882	MYH1_HUMAN			22	2623	-			843			Potential.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.2529C>A	CCDS11155.1																																																																																				0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		24	92	1	0	4.72e-08	4.83e-08	24	92				
MYH2	4620	broad.mit.edu	37	17	10432160	10432160	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10432160G>A	ENST00000245503.5	-	27	3975	c.3591C>T	c.(3589-3591)acC>acT	p.T1197T	MYH2_ENST00000397183.2_Silent_p.T1197T|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1197					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTCCTCAGGGTGGCCGCTG	0.562																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3589-3591)ACC>ACT		myosin heavy chain IIa							103.0	100.0	101.0					17																	10432160		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432160G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3591C>T	17.37:g.10432160G>A						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.T1197T|MYH2_uc010coj.2_Intron	p.T1197T	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			27	3719	-			1197			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.3591C>T	CCDS11156.1																																																																																				0.562	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		26	120	0	0	0	0	26	120				
MYH2	4620	broad.mit.edu	37	17	10450897	10450897	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10450897G>A	ENST00000245503.5	-	4	627	c.243C>T	c.(241-243)aaC>aaT	p.N81N	MYH2_ENST00000397183.2_Silent_p.N81N|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Silent_p.N81N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	81					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTTGGGAGGGTTCATGGGGA	0.433																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(241-243)AAC>AAT		myosin heavy chain IIa							316.0	276.0	289.0					17																	10450897		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10450897G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.243C>T	17.37:g.10450897G>A						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N81N|MYH2_uc010coj.2_Silent_p.N81N	p.N81N	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			4	371	-			81			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.243C>T	CCDS11156.1																																																																																				0.433	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		103	73	0	0	0	0	103	73				
ARHGAP44	9912	broad.mit.edu	37	17	12847451	12847451	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:12847451G>A	ENST00000379672.5	+	10	1099	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E267K|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E267K	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	267	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CAGCGGCCGGGAGATCGCCTT	0.632																																						uc002gnr.3		NA																	0					0						c.(799-801)GAG>AAG		Rho GTPase-activating protein RICH2							45.0	55.0	51.0					17																	12847451		2104	4221	6325	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12847451G>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.799G>A	17.37:g.12847451G>A	ENSP00000368994:p.Glu267Lys					RICH2_uc010vvk.1_Missense_Mutation_p.E267K|RICH2_uc010vvl.1_Missense_Mutation_p.E267K|RICH2_uc002gns.3_Missense_Mutation_p.E67K|RICH2_uc010vvm.1_Missense_Mutation_p.E267K|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_5'UTR	p.E267K	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			10	1126	+			267			Rho-GAP.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.799G>A	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767139	0.69878	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.21031	2.03;2.03	5.57	5.57	0.84162	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.053759	0.64402	D	0.000001	T	0.27594	0.0678	N	0.22421	0.69	0.80722	D	1	P;D	0.54964	0.877;0.969	B;P	0.55011	0.339;0.766	T	0.00792	-1.1564	10	0.42905	T	0.14	.	17.4003	0.87458	0.0:0.0:1.0:0.0	.	267;267	A6NCP5;Q17R89	.;RHG44_HUMAN	K	267	ENSP00000368994:E267K;ENSP00000342566:E267K	ENSP00000342566:E267K	E	+	1	0	ARHGAP44	12788176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.781000	0.95711	0.655000	0.94253	GAG		0.632	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		5	34	0	0	0	0	5	34				
MPRIP	23164	broad.mit.edu	37	17	17062129	17062129	+	Missense_Mutation	SNP	C	C	T	rs146616345		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:17062129C>T	ENST00000341712.4	+	14	1859	c.1859C>T	c.(1858-1860)cCa>cTa	p.P620L	MPRIP_ENST00000395804.3_Missense_Mutation_p.P620L|MPRIP_ENST00000395811.5_Missense_Mutation_p.P620L|MPRIP_ENST00000444976.1_Missense_Mutation_p.P582L			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	620	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GACCGGAGCCCAGGGCTGCCT	0.652																																						uc002gqu.1		NA																	0					0						c.(1858-1860)CCA>CTA		myosin phosphatase-Rho interacting protein							42.0	45.0	44.0					17																	17062129		2199	4291	6490	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17062129C>T	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1859C>T	17.37:g.17062129C>T	ENSP00000342379:p.Pro620Leu					MPRIP_uc002gqv.1_Missense_Mutation_p.P620L|MPRIP_uc002gqw.1_Missense_Mutation_p.P375L	p.P620L	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			14	1915	+			620			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.1859C>T	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.828|9.828	1.187652|1.187652	0.21870|0.21870	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000423885	T;T;T;T|.	0.23348|.	1.91;2.23;2.24;2.24|.	5.22|5.22	4.26|4.26	0.50523|0.50523	.|.	.|.	.|.	.|.	.|.	T|.	0.43277|.	0.1240|.	N|N	0.20986|0.20986	0.625|0.625	0.38711|0.38711	D|D	0.953229|0.953229	B;B|.	0.31209|.	0.313;0.009|.	B;B|.	0.27715|.	0.082;0.011|.	T|.	0.37174|.	-0.9717|.	9|.	0.15952|.	T|.	0.53|.	.|.	10.8743|10.8743	0.46902|0.46902	0.0:0.9106:0.0:0.0894|0.0:0.9106:0.0:0.0894	.|.	620;620|.	Q6WCQ1-2;Q6WCQ1|.	.;MPRIP_HUMAN|.	L|X	582;620;620;620|107	ENSP00000400189:P582L;ENSP00000379156:P620L;ENSP00000379149:P620L;ENSP00000342379:P620L|.	ENSP00000342379:P620L|.	P|Q	+|+	2|1	0|0	MPRIP|MPRIP	17002854|17002854	0.645000|0.645000	0.27286|0.27286	0.859000|0.859000	0.33776|0.33776	0.381000|0.381000	0.30169|0.30169	1.509000|1.509000	0.35780|0.35780	1.206000|1.206000	0.43276|0.43276	0.462000|0.462000	0.41574|0.41574	CCA|CAG		0.652	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		33	28	0	0	0	0	33	28				
FLCN	201163	broad.mit.edu	37	17	17116981	17116981	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:17116981C>T	ENST00000285071.4	-	14	2182	c.1728G>A	c.(1726-1728)gaG>gaA	p.E576E	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	576					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGTTCCGAGACTCCGAGGCTG	0.572									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													uc002gra.3		NA																	0				thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						c.(1726-1728)GAG>GAA		folliculin isoform 1							184.0	152.0	163.0					17																	17116981		2203	4300	6503	SO:0001819	synonymous_variant	201163	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17116981C>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1728G>A	17.37:g.17116981C>T						PLD6_uc010cpn.2_Intron	p.E576E	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN			14	2232	-			576					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Silent	SNP	ENST00000285071.4	37	c.1728G>A	CCDS32579.1																																																																																				0.572	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		27	49	0	0	0	0	27	49				
MYO15A	51168	broad.mit.edu	37	17	18045392	18045392	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:18045392G>A	ENST00000205890.5	+	24	5987		c.e24-1		MYO15A_ENST00000412324.1_Splice_Site	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTGTCCTTAGCTGTTCCTTA	0.577																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.e23-1		myosin XV							60.0	65.0	63.0					17																	18045392		2125	4255	6380	SO:0001630	splice_region_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18045392G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5650-1G>A	17.37:g.18045392G>A							p.L1884_splice	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			23	5988	+	all_neural(463;0.228)							B4DFC7	Splice_Site	SNP	ENST00000205890.5	37	c.5650_splice	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563839	0.86335	.	.	ENSG00000091536	ENST00000205890	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3895	0.94574	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO15A	17986117	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.701000	0.98710	2.690000	0.91761	0.655000	0.94253	.		0.577	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	Intron	71	44	0	0	0	0	71	44				
ZNF286B	729288	broad.mit.edu	37	17	18566179	18566179	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:18566179C>T	ENST00000545289.1	-	5	890	c.640G>A	c.(640-642)Gga>Aga	p.G214R	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						GCATAAGATCCTTTGGGAACT	0.343																																						uc010vyd.1		NA																	0					0						c.(640-642)GGA>AGA		zinc finger protein 286B							9.0	8.0	9.0					17																	18566179		681	1573	2254	SO:0001583	missense	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18566179C>T		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.640G>A	17.37:g.18566179C>T	ENSP00000461413:p.Gly214Arg						p.G214R	NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN			5	891	-			214						Missense_Mutation	SNP	ENST00000545289.1	37	c.640G>A	CCDS58523.1																																																																																				0.343	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		21	28	0	0	0	0	21	28				
EPN2	22905	broad.mit.edu	37	17	19235287	19235287	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:19235287C>T	ENST00000314728.5	+	10	2017	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	EPN2_ENST00000575595.1_Silent_p.S219S|RP11-135L13.4_ENST00000581122.1_RNA|EPN2_ENST00000395620.2_Silent_p.S454S|EPN2_ENST00000571254.1_Silent_p.S447S|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395618.3_Silent_p.S226S|EPN2_ENST00000347697.2_Silent_p.S454S	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	511	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CACCTGAGTCCTTCCTGGGCC	0.617																																						uc002gvd.3		NA																	0				skin(1)	1						c.(1531-1533)TCC>TCT		epsin 2 isoform b							118.0	108.0	112.0					17																	19235287		2203	4300	6503	SO:0001819	synonymous_variant	22905				endocytosis		lipid binding	g.chr17:19235287C>T	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1533C>T	17.37:g.19235287C>T						EPN2_uc010cql.1_Silent_p.S220S|EPN2_uc002gve.3_Silent_p.S454S|EPN2_uc002gvf.3_Silent_p.S226S|EPN2_uc010vyo.1_Silent_p.S219S|EPN2_uc010vyp.1_Silent_p.S447S|EPN2_uc010vyq.1_Silent_p.S448S|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Silent_p.S174S	p.S511S	NM_014964	NP_055779	O95208	EPN2_HUMAN			10	1981	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		511			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Silent	SNP	ENST00000314728.5	37	c.1533C>T	CCDS11203.1																																																																																				0.617	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		13	71	0	0	0	0	13	71				
B9D1	27077	broad.mit.edu	37	17	19247153	19247153	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:19247153C>T	ENST00000261499.4	-	6	565	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	B9D1_ENST00000477478.2_Missense_Mutation_p.G117S|B9D1_ENST00000395616.3_Missense_Mutation_p.R141Q|B9D1_ENST00000395615.1_Missense_Mutation_p.R141Q|B9D1_ENST00000575403.1_Missense_Mutation_p.G117S|B9D1_ENST00000461069.2_Missense_Mutation_p.R141Q|MIR1180_ENST00000408613.1_RNA	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	141					camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GTACTCGGGCCGCCGCCCCAT	0.622																																						uc002gvk.3		NA																	0					0						c.(421-423)CGG>CAG		B9 protein							47.0	52.0	51.0					17																	19247153		2203	4300	6503	SO:0001583	missense	27077				cilium assembly	centrosome|microtubule basal body	protein binding	g.chr17:19247153C>T	BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.422G>A	17.37:g.19247153C>T	ENSP00000261499:p.Arg141Gln					B9D1_uc010cqm.1_Missense_Mutation_p.G117S|B9D1_uc002gvl.3_Missense_Mutation_p.G117S|B9D1_uc010vyr.1_Missense_Mutation_p.G161S|B9D1_uc010vys.1_Missense_Mutation_p.G192S	p.R141Q	NM_015681	NP_056496	Q9UPM9	B9D1_HUMAN			6	586	-	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)		141					Q9BU22	Missense_Mutation	SNP	ENST00000261499.4	37	c.422G>A	CCDS11205.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890595	0.91889	.	.	ENSG00000108641	ENST00000395615;ENST00000261499;ENST00000395616	T;T;T	0.69926	-0.44;-0.44;-0.44	4.72	4.72	0.59763	.	0.170092	0.52532	D	0.000068	T	0.70064	0.3181	M	0.68317	2.08	0.80722	D	1	P	0.52170	0.951	P	0.49361	0.608	T	0.67280	-0.5710	10	0.17832	T	0.49	.	16.0338	0.80608	0.0:1.0:0.0:0.0	.	141	Q9UPM9	B9D1_HUMAN	Q	141	ENSP00000378977:R141Q;ENSP00000261499:R141Q;ENSP00000378978:R141Q	ENSP00000261499:R141Q	R	-	2	0	B9D1	19187746	0.998000	0.40836	0.982000	0.44146	0.938000	0.57974	3.855000	0.55957	2.447000	0.82792	0.549000	0.68633	CGG		0.622	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1	NM_015681		15	21	0	0	0	0	15	21				
USP22	23326	broad.mit.edu	37	17	20911202	20911202	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:20911202A>G	ENST00000261497.4	-	9	1414	c.1211T>C	c.(1210-1212)gTa>gCa	p.V404A	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Missense_Mutation_p.V392A	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	404	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						AAAACAGGCTACGATGGGCAG	0.483																																						uc002gym.3		NA																	0				lung(1)	1						c.(1210-1212)GTA>GCA		ubiquitin thiolesterase 22							137.0	125.0	129.0					17																	20911202		1926	4154	6080	SO:0001583	missense	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20911202A>G	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.1211T>C	17.37:g.20911202A>G	ENSP00000261497:p.Val404Ala					USP22_uc002gyn.3_Missense_Mutation_p.V392A|USP22_uc002gyl.3_Missense_Mutation_p.V299A	p.V404A	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN			9	1415	-			404					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	ENST00000261497.4	37	c.1211T>C	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799276	0.70567	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.36340	1.26;1.26	3.93	3.93	0.45458	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.60625	0.2283	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.66666	-0.5866	10	0.66056	D	0.02	.	13.0856	0.59138	1.0:0.0:0.0:0.0	.	392;404	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	A	472;392;404	ENSP00000440950:V392A;ENSP00000261497:V404A	ENSP00000261497:V404A	V	-	2	0	USP22	20851794	1.000000	0.71417	0.411000	0.26484	0.805000	0.45488	8.292000	0.89930	1.568000	0.49683	0.459000	0.35465	GTA		0.483	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			25	66	0	0	0	0	25	66				
NOS2	4843	broad.mit.edu	37	17	26108184	26108184	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:26108184G>A	ENST00000313735.6	-	8	975	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	248					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CTCCGCTGGGGGAACACGGTG	0.617																																						uc002gzu.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(742-744)CCC>TCC		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						82.0	73.0	76.0					17																	26108184		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26108184G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.742C>T	17.37:g.26108184G>A	ENSP00000327251:p.Pro248Ser					NOS2_uc010crh.1_Missense_Mutation_p.P248S|NOS2_uc010wab.1_Missense_Mutation_p.P248S	p.P248S	NM_000625	NP_000616	P35228	NOS2_HUMAN			8	1006	-			248					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.742C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072442	0.93950	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.37584	1.19	5.56	5.56	0.83823	Nitric oxide synthase, oxygenase domain (3);	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	M	0.79693	2.465	0.58432	D	0.999999	P;D	0.89917	0.938;1.0	P;D	0.97110	0.474;1.0	T	0.68595	-0.5367	10	0.87932	D	0	.	18.5127	0.90923	0.0:0.0:1.0:0.0	.	248;248	F8WEM3;P35228	.;NOS2_HUMAN	S	248	ENSP00000327251:P248S	ENSP00000305638:P248S	P	-	1	0	NOS2	23132311	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.608000	0.88229	0.655000	0.94253	CCC		0.617	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		10	53	0	0	0	0	10	53				
PIGS	94005	broad.mit.edu	37	17	26881400	26881400	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:26881400G>A	ENST00000308360.7	-	12	1881	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	UNC119_ENST00000301032.4_5'Flank|PIGS_ENST00000395346.2_Silent_p.F494F|UNC119_ENST00000335765.4_5'Flank|UNC119_ENST00000484980.1_5'Flank|PIGS_ENST00000543734.1_Silent_p.F441F	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	502					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					ACGGGTCAAAGAAGGCAAGCT	0.557																																						uc002hbo.2		NA																	0				breast(2)|urinary_tract(1)|kidney(1)	4						c.(1504-1506)TTC>TTT		phosphatidylinositol glycan anchor biosynthesis,							154.0	139.0	144.0					17																	26881400		2203	4300	6503	SO:0001819	synonymous_variant	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26881400G>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1506C>T	17.37:g.26881400G>A						UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Silent_p.F494F|PIGS_uc010wap.1_Silent_p.F441F	p.F502F	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			12	1879	-	Lung NSC(42;0.00431)		502			Lumenal (Potential).		Q6UVX6	Silent	SNP	ENST00000308360.7	37	c.1506C>T	CCDS11235.1																																																																																				0.557	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		27	95	0	0	0	0	27	95				
ALDOC	230	broad.mit.edu	37	17	26902186	26902186	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:26902186G>A	ENST00000226253.4	-	3	754	c.279C>T	c.(277-279)ccC>ccT	p.P93P	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Silent_p.P93P|ALDOC_ENST00000395319.3_Silent_p.P93P	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	93					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TTCGGACGAAGGGAACACCAT	0.517											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hbp.2		NA																	0				ovary(1)	1						c.(277-279)CCC>CCT		fructose-bisphosphate aldolase C							80.0	77.0	78.0					17																	26902186		2203	4300	6503	SO:0001819	synonymous_variant	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26902186G>A	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.279C>T	17.37:g.26902186G>A			OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	ALDOC_uc010cro.2_Silent_p.P93P	p.P93P	NM_005165	NP_005156	P09972	ALDOC_HUMAN			3	424	-	Lung NSC(42;0.00431)		93					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Silent	SNP	ENST00000226253.4	37	c.279C>T	CCDS11236.1																																																																																				0.517	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			13	28	0	0	0	0	13	28				
SEZ6	124925	broad.mit.edu	37	17	27309024	27309024	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:27309024C>T	ENST00000317338.12	-	2	517	c.89G>A	c.(88-90)gGa>gAa	p.G30E	SEZ6_ENST00000442608.3_Missense_Mutation_p.G30E|SEZ6_ENST00000360295.9_Missense_Mutation_p.G30E|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.G30E			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	30					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TGGGGCTTGTCCTTTCCCCAC	0.592																																						uc002hdp.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(88-90)GGA>GAA		seizure related 6 homolog isoform 1							29.0	32.0	31.0					17																	27309024		2081	4218	6299	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27309024C>T	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.89G>A	17.37:g.27309024C>T	ENSP00000312942:p.Gly30Glu					SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.G30E|SEZ6_uc002hdq.1_5'UTR|SEZ6_uc010crz.1_Missense_Mutation_p.G30E	p.G30E	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		2	283	-	Lung NSC(42;0.0137)		30			Extracellular (Potential).		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.89G>A	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	7.644	0.681448	0.14907	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000335960;ENST00000541381	T;T;T	0.25250	1.85;1.81;2.76	3.6	2.61	0.31194	.	.	.	.	.	T	0.15262	0.0368	N	0.17082	0.46	0.32080	N	0.593304	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.11329	0.004;0.006;0.002	T	0.10132	-1.0643	9	0.56958	D	0.05	.	7.396	0.26936	0.0:0.8786:0.0:0.1214	.	30;30;30	F5GZF9;Q53EL9-3;Q53EL9	.;.;SEZ6_HUMAN	E	30	ENSP00000403784:G30E;ENSP00000353440:G30E;ENSP00000337407:G30E	ENSP00000337407:G30E	G	-	2	0	SEZ6	24333150	0.020000	0.18652	1.000000	0.80357	0.355000	0.29361	0.405000	0.21015	1.092000	0.41356	0.462000	0.41574	GGA		0.592	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			6	27	0	0	0	0	6	27				
EFCAB5	374786	broad.mit.edu	37	17	28380879	28380879	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:28380879A>C	ENST00000394835.3	+	10	2099	c.1907A>C	c.(1906-1908)cAg>cCg	p.Q636P	EFCAB5_ENST00000536908.2_Missense_Mutation_p.Q580P|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Q636P|EFCAB5_ENST00000394832.2_Missense_Mutation_p.Q636P|EFCAB5_ENST00000541045.1_Missense_Mutation_p.Q293P|EFCAB5_ENST00000378738.3_Missense_Mutation_p.Q636P	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	636							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCTGCAGAACAGGGATCACTC	0.443																																						uc002het.2		NA																	0				ovary(1)|skin(1)	2						c.(1906-1908)CAG>CCG		EF-hand calcium binding domain 5 isoform a							189.0	178.0	182.0					17																	28380879		2029	4196	6225	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380879A>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1907A>C	17.37:g.28380879A>C	ENSP00000378312:p.Gln636Pro					EFCAB5_uc010wbi.1_Missense_Mutation_p.Q379P|EFCAB5_uc010wbj.1_Missense_Mutation_p.Q580P|EFCAB5_uc010wbk.1_Missense_Mutation_p.Q293P|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.Q515P|EFCAB5_uc010csf.2_Missense_Mutation_p.Q515P	p.Q636P	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			10	2099	+			636					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1907A>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	A	9.692	1.152184	0.21371	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	6.08	0.905	0.19307	.	1.065200	0.07298	N	0.873668	T	0.38241	0.1033	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B	0.20261	0.003;0.005;0.002;0.002;0.043;0.004	B;B;B;B;B;B	0.15052	0.002;0.005;0.002;0.003;0.012;0.003	T	0.32693	-0.9897	10	0.49607	T	0.09	0.9775	6.0568	0.19816	0.4612:0.2745:0.0:0.2643	.	580;580;636;636;636;636	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	P	580;379;293;636;636;636;636;580;442	ENSP00000440619:Q580P;ENSP00000445575:Q293P;ENSP00000378312:Q636P;ENSP00000322003:Q636P;ENSP00000378309:Q636P;ENSP00000368012:Q636P;ENSP00000417009:Q442P	ENSP00000322003:Q636P	Q	+	2	0	EFCAB5	25405005	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.104000	0.10923	0.122000	0.18314	0.533000	0.62120	CAG		0.443	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		29	96	0	0	0	0	29	96				
CPD	1362	broad.mit.edu	37	17	28748832	28748832	+	Missense_Mutation	SNP	C	C	T	rs373237520		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:28748832C>T	ENST00000225719.4	+	4	1364	c.1288C>T	c.(1288-1290)Ctt>Ttt	p.L430F	CPD_ENST00000543464.2_Missense_Mutation_p.L183F	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	430	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AACTTACAACCTTACAGTAGT	0.343																																						uc002hfb.1		NA																	0				liver(1)|skin(1)	2						c.(1288-1290)CTT>TTT		carboxypeptidase D precursor		C	PHE/LEU,PHE/LEU	0,4406		0,0,2203	121.0	120.0	120.0		547,1288	-1.7	0.4	17		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CPD	NM_001199775.1,NM_001304.4	22,22	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	183/1134,430/1381	28748832	1,13005	2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28748832C>T	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1288C>T	17.37:g.28748832C>T	ENSP00000225719:p.Leu430Phe					CPD_uc010wbo.1_Missense_Mutation_p.L183F|CPD_uc010wbp.1_RNA	p.L430F	NM_001304	NP_001295	O75976	CBPD_HUMAN			4	1303	+			430			Extracellular (Potential).|Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.1288C>T	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545663	0.27652	0.0	1.16E-4	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.20200	2.09;2.09	6.07	-1.69	0.08186	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.492696	0.22605	N	0.057905	T	0.22742	0.0549	M	0.71920	2.185	0.32515	N	0.536989	B;P	0.49307	0.144;0.922	B;P	0.46850	0.169;0.529	T	0.29549	-1.0008	10	0.87932	D	0	.	4.2763	0.10811	0.31:0.2799:0.3365:0.0736	.	183;430	F5GZH6;O75976	.;CBPD_HUMAN	F	430;183	ENSP00000225719:L430F;ENSP00000444443:L183F	ENSP00000225719:L430F	L	+	1	0	CPD	25772958	0.029000	0.19370	0.435000	0.26784	0.430000	0.31655	-0.059000	0.11731	-0.100000	0.12241	-0.176000	0.13171	CTT		0.343	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		15	89	0	0	0	0	15	89				
NF1	4763	broad.mit.edu	37	17	29548871	29548871	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:29548871C>T	ENST00000358273.4	+	15	2028	c.1645C>T	c.(1645-1647)Ctg>Ttg	p.L549L	NF1_ENST00000431387.4_Silent_p.L549L|NF1_ENST00000356175.3_Silent_p.L549L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	549			L -> P (in NF1; dbSNP:rs199474758). {ECO:0000269|PubMed:10712197}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.L549fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTCAGGCTCTGCTGGTTCT	0.308			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.?(2)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(1645-1647)CTG>TTG		neurofibromin isoform 1							52.0	50.0	51.0					17																	29548871		2202	4293	6495	SO:0001819	synonymous_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29548871C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1645C>T	17.37:g.29548871C>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgf.1_Silent_p.L549L|NF1_uc002hgh.2_Silent_p.L549L|NF1_uc010csn.1_Silent_p.L409L	p.L549L	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	15	1978	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	549		L -> P (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.1645C>T	CCDS42292.1																																																																																				0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		25	33	0	0	0	0	25	33				
LIG3	3980	broad.mit.edu	37	17	33321400	33321400	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:33321400G>A	ENST00000378526.4	+	9	1694	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	LIG3_ENST00000262327.5_Missense_Mutation_p.D521N	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	521					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TAAGAATGGAGACCACTTCAG	0.517								Other BER factors																														uc002hik.1		NA																	0				skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9						c.(1561-1563)GAC>AAC	Other_BER_factors	ligase III, DNA, ATP-dependent isoform alpha	Bleomycin(DB00290)						236.0	172.0	193.0					17																	33321400		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33321400G>A		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1561G>A	17.37:g.33321400G>A	ENSP00000367787:p.Asp521Asn					LIG3_uc002hij.2_Missense_Mutation_p.D521N|LIG3_uc010cth.1_Missense_Mutation_p.D530N	p.D521N	NM_013975	NP_039269	P49916	DNLI3_HUMAN			9	1669	+		Ovarian(249;0.17)	521					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.1561G>A	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	G	14.45	2.537597	0.45176	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	D;D	0.85013	-1.93;-1.93	5.65	5.65	0.86999	DNA ligase, ATP-dependent, central (1);	0.146850	0.64402	D	0.000011	T	0.76492	0.3995	N	0.16066	0.365	0.51482	D	0.999929	B;B;B	0.23442	0.085;0.085;0.085	B;B;B	0.26614	0.071;0.071;0.071	T	0.69621	-0.5096	10	0.24483	T	0.36	-12.9005	18.891	0.92403	0.0:0.0:1.0:0.0	.	521;521;521	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	N	521	ENSP00000367787:D521N;ENSP00000262327:D521N	ENSP00000262327:D521N	D	+	1	0	LIG3	30345513	1.000000	0.71417	0.977000	0.42913	0.963000	0.63663	5.276000	0.65580	2.941000	0.99782	0.655000	0.94253	GAC		0.517	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		17	74	0	0	0	0	17	74				
RAD51D	5892	broad.mit.edu	37	17	33433486	33433486	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:33433486C>T	ENST00000345365.6	-	6	750	c.495G>A	c.(493-495)cgG>cgA	p.R165R	RAD51D_ENST00000590016.1_Silent_p.R185R|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_Silent_p.R53R|RAD51D_ENST00000394589.4_Silent_p.R165R|RAD51D_ENST00000460118.2_Silent_p.R46R|RAD51L3-RFFL_ENST00000593039.1_Silent_p.R6R|RAD51D_ENST00000360276.3_Silent_p.R120R	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	165			R -> Q (in dbSNP:rs4796033). {ECO:0000269|Ref.4}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCTGGATCCTCCGGAGAGCTT	0.567								Direct reversal of damage																														uc002hir.2		NA																	0					0						c.(493-495)CGG>CGA	Direct_reversal_of_damage|Homologous_recombination	RAD51-like 3 isoform 1							45.0	41.0	42.0					17																	33433486		2203	4300	6503	SO:0001819	synonymous_variant	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33433486C>T	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.495G>A	17.37:g.33433486C>T						RFFL_uc002hiq.2_Silent_p.R6R|RAD51L3_uc010ctj.2_5'UTR|RAD51L3_uc010wcd.1_Silent_p.R185R|RAD51L3_uc002his.2_Silent_p.R53R|RAD51L3_uc010ctk.2_Silent_p.R46R|RAD51L3_uc010wce.1_Silent_p.R46R|RAD51L3_uc002hit.2_Silent_p.R46R|RAD51L3_uc002hiu.2_5'UTR|RAD51L3_uc010wcf.1_RNA|RAD51L3_uc002hiw.1_RNA|RAD51L3_uc002hiv.1_RNA|RAD51L3_uc010ctl.1_RNA|RAD51L3_uc010ctm.1_RNA	p.R165R	NM_002878	NP_002869	O75771	RA51D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	6	751	-		Ovarian(249;0.17)	165					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Silent	SNP	ENST00000345365.6	37	c.495G>A	CCDS11287.1																																																																																				0.567	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878		9	17	0	0	0	0	9	17				
SLFN11	91607	broad.mit.edu	37	17	33679468	33679468	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:33679468C>T	ENST00000394566.1	-	7	2885	c.2613G>A	c.(2611-2613)agG>agA	p.R871R	SLFN11_ENST00000308377.4_Silent_p.R871R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	871					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTCAGCTGTCCTTGGATGGA	0.483																																						uc010ctp.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2611-2613)AGG>AGA		schlafen family member 11							238.0	210.0	220.0					17																	33679468		2203	4300	6503	SO:0001819	synonymous_variant	91607					nucleus	ATP binding	g.chr17:33679468C>T	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2613G>A	17.37:g.33679468C>T						SLFN11_uc010ctq.2_Silent_p.R871R|SLFN11_uc002hjh.3_Silent_p.R871R|SLFN11_uc002hjg.3_Silent_p.R871R|SLFN11_uc010ctr.2_Silent_p.R871R	p.R871R	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	3055	-		Ovarian(249;0.17)	871					E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	c.2613G>A	CCDS11294.1																																																																																				0.483	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		38	169	0	0	0	0	38	169				
TADA2A	6871	broad.mit.edu	37	17	35783695	35783695	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:35783695C>T	ENST00000394395.2	+	3	285	c.112C>T	c.(112-114)Cct>Tct	p.P38S	TADA2A_ENST00000586023.1_Missense_Mutation_p.P38S|TADA2A_ENST00000225396.6_Missense_Mutation_p.P38S|TADA2A_ENST00000417170.1_Missense_Mutation_p.P38S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	38	Cys-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TGGGCCACCTCCTTTTTTCCT	0.443																																						uc002hnt.2		NA																	0				breast(3)|skin(1)	4						c.(112-114)CCT>TCT		transcriptional adaptor 2A isoform a							218.0	189.0	199.0					17																	35783695		2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35783695C>T	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.112C>T	17.37:g.35783695C>T	ENSP00000377918:p.Pro38Ser					TADA2A_uc002hnu.1_Missense_Mutation_p.P38S|TADA2A_uc002hnv.2_Missense_Mutation_p.P38S|TADA2A_uc010wdd.1_Missense_Mutation_p.P38S|TADA2A_uc002hnw.2_5'UTR	p.P38S	NM_001488	NP_001479	O75478	TAD2A_HUMAN			3	269	+			38			Cys-rich.		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.112C>T	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142889	0.57044	.	.	ENSG00000108264	ENST00000394395;ENST00000225396;ENST00000417170	T;T;T	0.40476	1.03;1.03;1.03	6.06	5.09	0.68999	Zinc finger, ZZ-type (1);	0.211851	0.50627	N	0.000105	T	0.21881	0.0527	N	0.04508	-0.205	0.48395	D	0.99964	B;B	0.19583	0.037;0.002	B;B	0.13407	0.009;0.004	T	0.05666	-1.0871	10	0.52906	T	0.07	-7.9718	10.3409	0.43877	0.0:0.7944:0.135:0.0706	.	38;38	O75478-2;O75478	.;TAD2A_HUMAN	S	38	ENSP00000377918:P38S;ENSP00000225396:P38S;ENSP00000406699:P38S	ENSP00000225396:P38S	P	+	1	0	TADA2A	32857808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.813000	0.48002	1.579000	0.49836	0.655000	0.94253	CCT		0.443	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		34	124	0	0	0	0	34	124				
MLLT6	4302	broad.mit.edu	37	17	36876005	36876005	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:36876005C>T	ENST00000325718.7	+	14	2103	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	MIR4726_ENST00000577947.1_RNA|CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	671					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGCCGCAGGTCCCCCATCAGC	0.682			T	MLL	AL																																	uc002hqi.3		NA		Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|prostate(1)|lung(1)|skin(1)	6						c.(2011-2013)TCC>TTC		myeloid/lymphoid or mixed-lineage leukemia							25.0	29.0	28.0					17																	36876005		2202	4300	6502	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36876005C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.2012C>T	17.37:g.36876005C>T	ENSP00000316426:p.Ser671Phe					MLLT6_uc002hqj.2_Missense_Mutation_p.S106F|MLLT6_uc002hqk.3_Missense_Mutation_p.S2F	p.S671F	NM_005937	NP_005928	P55198	AF17_HUMAN			14	2025	+	Breast(7;4.43e-21)		671					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.2012C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677226	0.68042	.	.	ENSG00000108292	ENST00000325718	T	0.10960	2.82	4.94	3.97	0.46021	.	0.214427	0.41396	D	0.000894	T	0.22205	0.0535	M	0.65975	2.015	0.58432	D	0.999993	D;P	0.53462	0.96;0.731	P;B	0.52217	0.693;0.097	T	0.01657	-1.1302	10	0.62326	D	0.03	.	13.6513	0.62312	0.1563:0.8437:0.0:0.0	.	125;671	Q96I32;P55198	.;AF17_HUMAN	F	671	ENSP00000316426:S671F	ENSP00000316426:S671F	S	+	2	0	MLLT6	34129531	1.000000	0.71417	1.000000	0.80357	0.378000	0.30076	3.802000	0.55553	1.201000	0.43203	0.561000	0.74099	TCC		0.682	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		4	27	0	0	0	0	4	27				
MED1	5469	broad.mit.edu	37	17	37564132	37564132	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:37564132G>A	ENST00000300651.6	-	17	4565	c.4342C>T	c.(4342-4344)Ccc>Tcc	p.P1448S	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.P1448A(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTATGGCTGGGAGAGCCACGC	0.488										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(4342-4344)CCC>TCC		mediator complex subunit 1							69.0	70.0	70.0					17																	37564132		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564132G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4342C>T	17.37:g.37564132G>A	ENSP00000300651:p.Pro1448Ser	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.P1276S|MED1_uc002hru.2_Intron	p.P1448S	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4554	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1448			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4342C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579985	0.65992	.	.	ENSG00000125686	ENST00000300651	T	0.55930	0.49	4.66	4.66	0.58398	.	.	.	.	.	T	0.59238	0.2179	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.56086	-0.8037	9	0.27082	T	0.32	-7.2768	18.1035	0.89513	0.0:0.0:1.0:0.0	.	1448	Q15648	MED1_HUMAN	S	1448	ENSP00000300651:P1448S	ENSP00000300651:P1448S	P	-	1	0	MED1	34817658	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.559000	0.98135	2.573000	0.86826	0.561000	0.74099	CCC		0.488	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		21	69	0	0	0	0	21	69				
MED1	5469	broad.mit.edu	37	17	37565007	37565007	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:37565007G>A	ENST00000300651.6	-	17	3690	c.3467C>T	c.(3466-3468)tCt>tTt	p.S1156F	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGTTATGGGAGAGGAGCCTGG	0.468										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NA																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(3466-3468)TCT>TTT		mediator complex subunit 1							83.0	83.0	83.0					17																	37565007		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565007G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3467C>T	17.37:g.37565007G>A	ENSP00000300651:p.Ser1156Phe	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.S984F|MED1_uc002hru.2_Intron	p.S1156F	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3679	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1156			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3467C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031006	0.35797	.	.	ENSG00000125686	ENST00000300651	T	0.47528	0.84	5.35	5.35	0.76521	.	.	.	.	.	T	0.57198	0.2037	L	0.27053	0.805	0.58432	D	0.999991	D	0.71674	0.998	D	0.64687	0.928	T	0.59979	-0.7352	9	0.87932	D	0	-10.3367	19.6142	0.95626	0.0:0.0:1.0:0.0	.	1156	Q15648	MED1_HUMAN	F	1156	ENSP00000300651:S1156F	ENSP00000300651:S1156F	S	-	2	0	MED1	34818533	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.766000	0.85320	2.941000	0.99782	0.655000	0.94253	TCT		0.468	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		13	45	0	0	0	0	13	45				
PSMD3	5709	broad.mit.edu	37	17	38145046	38145046	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:38145046C>T	ENST00000264639.4	+	4	834	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PSMD3_ENST00000541736.1_Silent_p.F82F	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of 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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCTATGAGTTCCTGGACAAGC	0.547																																					Ovarian(186;531 2051 6385 19668 48409)	uc002htn.1		NA																	0				ovary(1)|pancreas(1)	2						c.(658-660)TTC>TTT		proteasome 26S non-ATPase subunit 3							113.0	117.0	116.0					17																	38145046		2203	4300	6503	SO:0001819	synonymous_variant	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38145046C>T	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.660C>T	17.37:g.38145046C>T						PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.F121F	p.F220F	NM_002809	NP_002800	O43242	PSMD3_HUMAN			4	824	+	Colorectal(19;0.000442)		220					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Silent	SNP	ENST00000264639.4	37	c.660C>T	CCDS11356.1																																																																																				0.547	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		18	120	0	0	0	0	18	120				
KRT40	125115	broad.mit.edu	37	17	39138698	39138698	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39138698G>A	ENST00000398486.2	-	5	708	c.548C>T	c.(547-549)tCc>tTc	p.S183F	KRT40_ENST00000377755.4_Missense_Mutation_p.S183F	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	183	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CTGGCGAAGGGACAGTTCACT	0.527																																						uc010cxh.1		NA																	0					0						c.(547-549)TCC>TTC		type I hair keratin KA36							80.0	79.0	79.0					17																	39138698		2019	4190	6209	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39138698G>A	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.548C>T	17.37:g.39138698G>A	ENSP00000381500:p.Ser183Phe					KRT40_uc002hvq.1_RNA	p.S183F	NM_182497	NP_872303	Q6A162	K1C40_HUMAN			5	709	-		Breast(137;0.00043)	183			Rod.|Coil 1B.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.548C>T	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196061	0.38806	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.89270	-2.49;-2.49	5.18	5.18	0.71444	Filament (1);	0.000000	0.33290	N	0.005061	D	0.94978	0.8375	M	0.90082	3.085	0.09310	N	1	D	0.71674	0.998	D	0.79108	0.992	D	0.89366	0.3671	10	0.59425	D	0.04	.	13.4617	0.61231	0.0788:0.0:0.9212:0.0	.	183	Q6A162	K1C40_HUMAN	F	183	ENSP00000366984:S183F;ENSP00000381500:S183F	ENSP00000366984:S183F	S	-	2	0	KRT40	36392224	0.000000	0.05858	0.999000	0.59377	0.501000	0.33797	0.608000	0.24223	2.577000	0.86979	0.591000	0.81541	TCC		0.527	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		15	78	0	0	0	0	15	78				
KRT40	125115	broad.mit.edu	37	17	39140175	39140175	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39140175C>T	ENST00000398486.2	-	3	511	c.351G>A	c.(349-351)ctG>ctA	p.L117L	KRT40_ENST00000377755.4_Silent_p.L117L	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	117	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TCCTGGATTCCAGCTCTGCGT	0.493																																						uc010cxh.1		NA																	0					0						c.(349-351)CTG>CTA		type I hair keratin KA36							195.0	195.0	195.0					17																	39140175		2201	4294	6495	SO:0001819	synonymous_variant	125115					intermediate filament	structural molecule activity	g.chr17:39140175C>T	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.351G>A	17.37:g.39140175C>T						KRT40_uc002hvq.1_RNA	p.L117L	NM_182497	NP_872303	Q6A162	K1C40_HUMAN			3	512	-		Breast(137;0.00043)	117			Rod.|Coil 1A.		Q6IFU5	Silent	SNP	ENST00000398486.2	37	c.351G>A	CCDS42320.1																																																																																				0.493	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		49	159	0	0	0	0	49	159				
KRT38	8687	broad.mit.edu	37	17	39596777	39596778	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39596777_39596778CC>TT	ENST00000246646.3	-	1	395_396	c.396_397GG>AA	c.(394-399)ctGGag>ctAAag	p.E133K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	133	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGTGTGGCCTCCAGCTCCGCAT	0.594																																						uc002hwq.1		NA																	0				skin(2)	2						c.(394-399)CTGGAG>CTAAAG		keratin 38																																				SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39596777_39596778CC>TT	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.396_397delinsTT	17.37:g.39596777_39596778delinsTT	ENSP00000246646:p.Glu133Lys						p.E133K	NM_006771	NP_006762	O76015	KRT38_HUMAN			1	819_820	-		Breast(137;0.000496)	133			Coil 1A.|Rod.		A2RRM5|Q6A164	Missense_Mutation	DNP	ENST00000246646.3	37	c.396_397GG>AA	CCDS11392.1																																																																																				0.594	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		18	101	0	0	0	0	18	101				
KRT9	3857	broad.mit.edu	37	17	39724598	39724598	+	Missense_Mutation	SNP	G	G	A	rs201047019		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39724598G>A	ENST00000246662.4	-	6	1275	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	KRT9_ENST00000588431.1_Missense_Mutation_p.R171C	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	404	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCACAGTAGCGGTTCTTCGTG	0.507																																						uc002hxe.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1210-1212)CGC>TGC		keratin 9							121.0	118.0	119.0					17																	39724598		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39724598G>A		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1210C>T	17.37:g.39724598G>A	ENSP00000246662:p.Arg404Cys					JUP_uc010wfs.1_Intron	p.R404C	NM_000226	NP_000217	P35527	K1C9_HUMAN			6	1276	-		Breast(137;0.000307)	404			Rod.|Coil 2.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.1210C>T	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325492	0.60743	.	.	ENSG00000171403	ENST00000246662	D	0.88975	-2.45	5.03	1.86	0.25419	Filament (1);	0.520969	0.14503	N	0.315595	D	0.84866	0.5567	M	0.72894	2.215	0.09310	N	1	B	0.30236	0.274	B	0.23275	0.045	T	0.76266	-0.3022	10	0.87932	D	0	.	5.5132	0.16892	0.1486:0.0:0.5726:0.2787	.	404	P35527	K1C9_HUMAN	C	404	ENSP00000246662:R404C	ENSP00000246662:R404C	R	-	1	0	KRT9	36978124	0.106000	0.21978	0.965000	0.40720	0.928000	0.56348	2.597000	0.46214	0.135000	0.18707	0.471000	0.43371	CGC		0.507	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		14	86	0	0	0	0	14	86				
KRT14	3861	broad.mit.edu	37	17	39740157	39740157	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39740157C>T	ENST00000167586.6	-	4	868	c.782G>A	c.(781-783)aGa>aAa	p.R261K		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	261	Linker 12.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CACCTGGCCTCTCAGGGCATT	0.572																																						uc002hxf.1		NA																	0				ovary(1)	1						c.(781-783)AGA>AAA		keratin 14							89.0	78.0	82.0					17																	39740157		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740157C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.782G>A	17.37:g.39740157C>T	ENSP00000167586:p.Arg261Lys					JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.R261K	p.R261K	NM_000526	NP_000517	P02533	K1C14_HUMAN			4	843	-		Breast(137;0.000307)	261			Rod.|Linker 12.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.782G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300235	0.60195	.	.	ENSG00000186847	ENST00000167586	T	0.74002	-0.8	5.31	3.28	0.37604	Prefoldin (1);Filament (1);	0.104769	0.42294	D	0.000721	T	0.66197	0.2765	L	0.42487	1.325	0.34304	D	0.684645	B	0.24576	0.106	B	0.28011	0.085	T	0.73173	-0.4066	10	0.59425	D	0.04	.	10.319	0.43753	0.0:0.8322:0.0:0.1678	.	261	P02533	K1C14_HUMAN	K	261	ENSP00000167586:R261K	ENSP00000167586:R261K	R	-	2	0	KRT14	36993683	0.000000	0.05858	0.993000	0.49108	0.976000	0.68499	1.078000	0.30754	1.367000	0.46095	0.655000	0.94253	AGA		0.572	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		12	41	0	0	0	0	12	41				
KRT14	3861	broad.mit.edu	37	17	39740512	39740512	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39740512C>T	ENST00000167586.6	-	3	848	c.762G>A	c.(760-762)gaG>gaA	p.E254E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	254	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TTCTCACCTCCTCGTGGTTCT	0.552																																						uc002hxf.1		NA																	0				ovary(1)	1						c.(760-762)GAG>GAA		keratin 14							100.0	104.0	103.0					17																	39740512		2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740512C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.762G>A	17.37:g.39740512C>T						JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Silent_p.E254E	p.E254E	NM_000526	NP_000517	P02533	K1C14_HUMAN			3	823	-		Breast(137;0.000307)	254			Coil 1B.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.762G>A	CCDS11400.1																																																																																				0.552	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		14	126	0	0	0	0	14	126				
KRT14	3861	broad.mit.edu	37	17	39740538	39740538	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39740538G>A	ENST00000167586.6	-	3	822	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	246	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AGGTAGGCCAGCTCCTCCTTC	0.552																																						uc002hxf.1		NA																	0				ovary(1)	1						c.(736-738)CTG>TTG		keratin 14							113.0	117.0	115.0					17																	39740538		2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740538G>A	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.736C>T	17.37:g.39740538G>A						JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Silent_p.L246L	p.L246L	NM_000526	NP_000517	P02533	K1C14_HUMAN			3	797	-		Breast(137;0.000307)	246			Coil 1B.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.736C>T	CCDS11400.1																																																																																				0.552	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		27	122	0	0	0	0	27	122				
GHDC	84514	broad.mit.edu	37	17	40344298	40344298	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40344298C>T	ENST00000301671.8	-	4	1291	c.850G>A	c.(850-852)Gga>Aga	p.G284R	GHDC_ENST00000414034.3_Missense_Mutation_p.G284R|GHDC_ENST00000587427.1_Missense_Mutation_p.G284R|GHDC_ENST00000593209.1_Missense_Mutation_p.G284R|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000428494.2_Missense_Mutation_p.G245R|GHDC_ENST00000436923.2_Missense_Mutation_p.G284R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	284						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G284R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AAGGCTAGTCCTTGGCACCAC	0.632																																						uc002hzd.2		NA																	1	Substitution - Missense(1)		skin(1)		0						c.(850-852)GGA>AGA		LGP1 homolog isoform 1							82.0	79.0	80.0					17																	40344298		2195	4294	6489	SO:0001583	missense	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40344298C>T	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.850G>A	17.37:g.40344298C>T	ENSP00000301671:p.Gly284Arg					GHDC_uc002hzg.1_Missense_Mutation_p.G284R|GHDC_uc010wgg.1_Missense_Mutation_p.G245R|GHDC_uc002hze.3_Missense_Mutation_p.G284R|GHDC_uc002hzf.3_Missense_Mutation_p.G284R|GHDC_uc010cxz.2_RNA	p.G284R	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	4	1334	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	284					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.850G>A	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621938	0.87460	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.21	4.21	0.49690	.	0.068738	0.64402	D	0.000019	T	0.78227	0.4250	M	0.77820	2.39	0.47547	D	0.999452	D;D;D	0.89917	1.0;0.962;1.0	D;P;D	0.97110	0.998;0.854;1.0	T	0.81104	-0.1084	9	0.62326	D	0.03	-22.9086	13.8657	0.63588	0.0:1.0:0.0:0.0	.	245;284;284	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	R	228;245;284;284;284	.	ENSP00000301671:G284R	G	-	1	0	GHDC	37597824	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.131000	0.64751	2.179000	0.69175	0.561000	0.74099	GGA		0.632	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		20	130	0	0	0	0	20	130				
PTRF	284119	broad.mit.edu	37	17	40556780	40556780	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40556780G>A	ENST00000357037.5	-	2	1517	c.1098C>T	c.(1096-1098)agC>agT	p.S366S		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCACGTCGGGGCTGCTCCCGC	0.736																																						uc002hzo.2		NA																	0				breast(1)	1						c.(1096-1098)AGC>AGT		polymerase I and transcript release factor							6.0	6.0	6.0					17																	40556780		2062	4052	6114	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40556780G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.1098C>T	17.37:g.40556780G>A						PTRF_uc010wgi.1_Silent_p.S348S	p.S366S	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1257	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	366						Silent	SNP	ENST00000357037.5	37	c.1098C>T	CCDS11425.1																																																																																				0.736	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		4	9	0	0	0	0	4	9				
TUBG1	7283	broad.mit.edu	37	17	40765002	40765002	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40765002C>T	ENST00000251413.3	+	6	579	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	FAM134C_ENST00000585894.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	173					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	CTCAGTGTTTCCCAACCAGGA	0.557																																					Colon(20;114 698 11420 22864)	uc002ian.2		NA																	0				ovary(1)	1						c.(517-519)CCC>TCC		tubulin, gamma 1							180.0	145.0	157.0					17																	40765002		2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40765002C>T	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.517C>T	17.37:g.40765002C>T	ENSP00000251413:p.Pro173Ser						p.P173S	NM_001070	NP_001061	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	6	915	+		Breast(137;0.00116)	173					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.517C>T	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383817	0.61845	.	.	ENSG00000131462	ENST00000251413	D	0.89681	-2.55	4.81	3.85	0.44370	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.96528	0.8867	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97379	0.9981	10	0.87932	D	0	-18.0442	13.1081	0.59259	0.0:0.923:0.0:0.077	.	173	P23258	TBG1_HUMAN	S	173	ENSP00000251413:P173S	ENSP00000251413:P173S	P	+	1	0	TUBG1	38018528	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	7.649000	0.83500	1.261000	0.44149	-0.229000	0.12294	CCC		0.557	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		19	95	0	0	0	0	19	95				
CCR10	2826	broad.mit.edu	37	17	40832611	40832612	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40832611_40832612CC>TT	ENST00000332438.4	-	2	67_68	c.48_49GG>AA	c.(46-51)ggGGat>ggAAat	p.D17N	CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	17					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCCTCTTCATCCCCAGAGTAAT	0.594																																						uc002iax.3		NA																	0					0						c.(46-51)GGGGAT>GGAAAT		CC chemokine receptor 10																																				SO:0001583	missense	2826					integral to plasma membrane		g.chr17:40832611_40832612CC>TT	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.48_49delinsTT	17.37:g.40832611_40832612delinsTT	ENSP00000332504:p.Asp17Asn					CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	p.D17N	NM_016602	NP_057686	P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	52_53	-		Breast(137;0.000153)	17			Extracellular (Potential).		Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	DNP	ENST00000332438.4	37	c.48_49GG>AA	CCDS11435.1																																																																																				0.594	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	NM_016602		6	31	0	0	0	0	6	31				
WNK4	65266	broad.mit.edu	37	17	40945659	40945659	+	Missense_Mutation	SNP	G	G	A	rs149389156	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40945659G>A	ENST00000246914.5	+	12	2228	c.2207G>A	c.(2206-2208)cGg>cAg	p.R736Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	736					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTCTCAGACGGATTCGGGAG	0.542													G|||	3	0.000599042	0.0	0.0	5008	,	,		16800	0.0		0.003	False		,,,				2504	0.0				Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	0				ovary(3)|skin(3)|stomach(1)	7						c.(2206-2208)CGG>CAG		WNK lysine deficient protein kinase 4		G	GLN/ARG	0,4406		0,0,2203	98.0	84.0	89.0		2207	4.5	1.0	17	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	WNK4	NM_032387.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	736/1244	40945659	1,13005	2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40945659G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2207G>A	17.37:g.40945659G>A	ENSP00000246914:p.Arg736Gln					WNK4_uc010wgx.1_Missense_Mutation_p.R400Q|WNK4_uc002ibk.1_Missense_Mutation_p.R508Q|WNK4_uc010wgy.1_Missense_Mutation_p.R80Q	p.R736Q	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	12	2228	+		Breast(137;0.000143)	736					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.2207G>A	CCDS11439.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	12.82	2.051685	0.36181	0.0	1.16E-4	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.30182	1.54	4.46	4.46	0.54185	.	0.000000	0.39475	N	0.001346	T	0.38241	0.1033	N	0.16862	0.45	0.39909	D	0.974008	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.994;0.994	T	0.25363	-1.0134	10	0.26408	T	0.33	-16.3918	16.0356	0.80625	0.0:0.0:1.0:0.0	.	80;736;736;736	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	Q	736;508;80	ENSP00000246914:R736Q	ENSP00000246914:R736Q	R	+	2	0	WNK4	38199185	0.964000	0.33143	0.996000	0.52242	0.868000	0.49771	4.694000	0.61760	2.302000	0.77476	0.561000	0.74099	CGG		0.542	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			15	61	0	0	0	0	15	61				
AOC2	314	broad.mit.edu	37	17	41001235	41001235	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41001235C>T	ENST00000253799.3	+	2	1748	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	AOC3_ENST00000308423.2_5'Flank|AOC2_ENST00000452774.2_Missense_Mutation_p.S574F	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	574					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACAGCTTTTTCCTTGGGAAGC	0.612																																						uc002ibu.2		NA																	0				ovary(2)	2						c.(1720-1722)TCC>TTC		amine oxidase, copper containing 2 isoform b							51.0	56.0	54.0					17																	41001235		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41001235C>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1721C>T	17.37:g.41001235C>T	ENSP00000253799:p.Ser574Phe					AOC2_uc002ibt.2_Missense_Mutation_p.S574F|AOC3_uc002ibv.2_5'Flank	p.S574F	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	2	1756	+		Breast(137;0.000143)	574					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.1721C>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	8.716	0.913263	0.17907	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.04049	3.72;3.72	5.26	2.01	0.26516	Copper amine oxidase, C-terminal (3);	1.061280	0.07139	N	0.847018	T	0.02304	0.0071	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.003	T	0.44667	-0.9313	10	0.54805	T	0.06	-25.2956	0.951	0.01376	0.1409:0.3491:0.2077:0.3023	.	574;574	O75106;O75106-2	AOC2_HUMAN;.	F	574	ENSP00000253799:S574F;ENSP00000406134:S574F	ENSP00000253799:S574F	S	+	2	0	AOC2	38254761	0.000000	0.05858	0.012000	0.15200	0.836000	0.47400	-0.322000	0.08007	0.767000	0.33267	0.655000	0.94253	TCC		0.612	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		22	42	0	0	0	0	22	42				
VAT1	10493	broad.mit.edu	37	17	41170069	41170069	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41170069C>T	ENST00000420567.3	-	3	493	c.348G>A	c.(346-348)aaG>aaA	p.K116K	VAT1_ENST00000587173.1_Silent_p.K182K|VAT1_ENST00000355653.3_Silent_p.K250K			P54219	VMAT1_HUMAN	vesicle amine transport 1	0					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	GGGAAATCTTCTTGATCTCAT	0.547																																						uc002icm.1		NA																	0					0						c.(748-750)AAG>AAA		vesicle amine transport protein 1							135.0	116.0	122.0					17																	41170069		2203	4300	6503	SO:0001819	synonymous_variant	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41170069C>T	U18009	CCDS11451.1	17q21	2013-08-23	2013-08-23			ENSG00000108828			16919	protein-coding gene	gene with protein product		604631	"""vesicle amine transport protein 1 homolog (T. californica)"""			7774926, 8938427	Standard	NM_006373		Approved	VATI, FLJ20230	uc002icm.1	Q99536		ENST00000420567.3:c.348G>A	17.37:g.41170069C>T						VAT1_uc010cyw.1_Silent_p.K116K|VAT1_uc010whk.1_Silent_p.K182K	p.K250K	NM_006373	NP_006364	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	3	870	-		Breast(137;0.000717)	250					E9PDJ5|Q9BRE4	Silent	SNP	ENST00000420567.3	37	c.750G>A																																																																																					0.547	VAT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453104.1	NM_006373		23	73	0	0	0	0	23	73				
ETV4	2118	broad.mit.edu	37	17	41605896	41605896	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41605896G>A	ENST00000319349.5	-	13	1744	c.1446C>T	c.(1444-1446)taC>taT	p.Y482Y	ETV4_ENST00000393664.2_Silent_p.Y482Y|ETV4_ENST00000591713.1_Silent_p.Y482Y|ETV4_ENST00000545089.1_Silent_p.Y428Y|ETV4_ENST00000538265.1_Silent_p.Y443Y|ETV4_ENST00000545954.1_Silent_p.Y443Y|ETV4_ENST00000586826.1_Silent_p.Y205Y	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	482					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCTAGTAAGAGTAGCCACCCT	0.602			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	uc002idw.2		NA		Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	EWSR1|TMPRSS2|DDX5|KLK2|CANT1		Ewing sarcoma|Prostate carcinoma	EWSR1/ETV4(6)	0				bone(4)|soft_tissue(2)|ovary(1)	7						c.(1444-1446)TAC>TAT		ets variant gene 4 (E1A enhancer binding							14.0	16.0	15.0					17																	41605896		2199	4288	6487	SO:0001819	synonymous_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41605896G>A	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.1446C>T	17.37:g.41605896G>A						ETV4_uc002idv.2_Silent_p.Y205Y|ETV4_uc010wih.1_Silent_p.Y428Y|ETV4_uc010czh.2_Silent_p.Y481Y|ETV4_uc010wii.1_Silent_p.Y443Y|ETV4_uc002idx.2_Silent_p.Y482Y|ETV4_uc010wij.1_Silent_p.Y443Y	p.Y482Y	NM_001986	NP_001977	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	13	1574	-		Breast(137;0.00908)	482					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	ENST00000319349.5	37	c.1446C>T	CCDS11465.1																																																																																				0.602	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		8	24	0	0	0	0	8	24				
ASB16	92591	broad.mit.edu	37	17	42248418	42248419	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:42248418_42248419GG>AA	ENST00000293414.1	+	1	345_346	c.261_262GG>AA	c.(259-264)gtGGag>gtAAag	p.E88K		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	88					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACATGATTGTGGAGACTGTGAG	0.609																																						uc002ifl.1		NA																	0				kidney(2)	2						c.(259-264)GTGGAG>GTAAAG		ankyrin repeat and SOCS box-containing protein																																				SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42248418_42248419GG>AA	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	Exception_encountered	17.37:g.42248418_42248419delinsAA	ENSP00000293414:p.Glu88Lys					ASB16_uc002ifm.1_RNA	p.E88K	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	1	345_346	+		Breast(137;0.00765)|Prostate(33;0.0313)	88					B2RBC0|Q8WXK0	Missense_Mutation	DNP	ENST00000293414.1	37	c.261_262GG>AA	CCDS11478.1																																																																																				0.609	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			4	45	0	0	0	0	4	45				
CDC27	996	broad.mit.edu	37	17	45234385	45234385	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:45234385G>A	ENST00000066544.3	-	7	829	c.736C>T	c.(736-738)Cca>Tca	p.P246S	CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000531206.1_Missense_Mutation_p.P246S|CDC27_ENST00000527547.1_Missense_Mutation_p.P246S|CDC27_ENST00000446365.2_Missense_Mutation_p.P185S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	246					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|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)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTTCCCAGTGGGACAGTATCA	0.363																																						uc002ild.3		NA																	0				lung(2)|breast(2)|ovary(1)	5						c.(736-738)CCA>TCA		cell division cycle protein 27 isoform 2							48.0	53.0	52.0					17																	45234385		2197	4293	6490	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234385G>A	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.736C>T	17.37:g.45234385G>A	ENSP00000066544:p.Pro246Ser					CDC27_uc002ile.3_Missense_Mutation_p.P246S|CDC27_uc002ilf.3_Missense_Mutation_p.P246S|CDC27_uc010wkp.1_Missense_Mutation_p.P185S|CDC27_uc010wkq.1_RNA	p.P246S	NM_001256	NP_001247	P30260	CDC27_HUMAN			7	863	-			246					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.736C>T	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935258	0.52866	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.24;-0.08;-0.25;0.94	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	N	0.14661	0.345	0.58432	D	0.999999	B;B;B;B	0.20052	0.024;0.041;0.002;0.0	B;B;B;B	0.14578	0.007;0.011;0.002;0.001	T	0.44221	-0.9342	10	0.30854	T	0.27	-12.8775	16.7505	0.85484	0.0:0.0:1.0:0.0	.	185;246;246;246	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	246;246;185;246;246	ENSP00000066544:P246S;ENSP00000434614:P246S;ENSP00000392802:P185S;ENSP00000437339:P246S;ENSP00000432105:P246S	ENSP00000066544:P246S	P	-	1	0	CDC27	42589384	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.878000	0.63093	2.555000	0.86185	0.460000	0.39030	CCA		0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	72	0	0	0	0	7	72				
ITGB3	3690	broad.mit.edu	37	17	45368447	45368447	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:45368447G>A	ENST00000559488.1	+	9	1269	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	ITGB3_ENST00000571680.1_Missense_Mutation_p.G418E|ITGB3_ENST00000435993.2_Missense_Mutation_p.G371E|ITGB3_ENST00000560629.1_Nonsense_Mutation_p.W406*	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	418					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CTCAAGATTGGAGACACGGTG	0.542																																						uc002ilj.2		NA																	0				central_nervous_system(5)|large_intestine(1)	6						c.(1252-1254)GGA>GAA		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						101.0	87.0	92.0					17																	45368447		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45368447G>A		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1253G>A	17.37:g.45368447G>A	ENSP00000452786:p.Gly418Glu					ITGB3_uc002ili.1_Missense_Mutation_p.G418E|ITGB3_uc010wkr.1_RNA	p.G418E	NM_000212	NP_000203	P05106	ITB3_HUMAN			9	1273	+			418			Extracellular (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1253G>A	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208273	0.95033	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	T	0.77358	-1.09	5.33	5.33	0.75918	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90099	0.6907	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91857	0.5496	10	0.87932	D	0	.	17.7884	0.88545	0.0:0.0:1.0:0.0	.	418;418	P05106;Q2YFE1	ITB3_HUMAN;.	E	418;371	ENSP00000407801:G371E	ENSP00000262017:G418E	G	+	2	0	C17orf57	42723446	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.824000	0.99380	2.494000	0.84150	0.462000	0.41574	GGA		0.542	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		19	60	0	0	0	0	19	60				
FAM117A	81558	broad.mit.edu	37	17	47797715	47797715	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:47797715C>T	ENST00000240364.2	-	4	625	c.546G>A	c.(544-546)ggG>ggA	p.G182G	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	182										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CTGCGTGGTCCCCTAGGAGTG	0.582																																						uc002ipk.2		NA																	0				ovary(1)	1						c.(544-546)GGG>GGA		family with sequence similarity 117, member A							95.0	85.0	89.0					17																	47797715		2203	4300	6503	SO:0001819	synonymous_variant	81558							g.chr17:47797715C>T	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.546G>A	17.37:g.47797715C>T						FAM117A_uc010wlz.1_5'UTR	p.G182G	NM_030802	NP_110429	Q9C073	F117A_HUMAN			4	615	-			182					B7Z7Q3	Silent	SNP	ENST00000240364.2	37	c.546G>A	CCDS11553.1																																																																																				0.582	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		38	64	0	0	0	0	38	64				
FAM117A	81558	broad.mit.edu	37	17	47841404	47841404	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:47841404G>A	ENST00000240364.2	-	1	125	c.46C>T	c.(46-48)Ccg>Tcg	p.P16S	FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	16										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						ccgcgccccggcccccaggca	0.806																																						uc002ipk.2		NA																	0				ovary(1)	1						c.(46-48)CCG>TCG		family with sequence similarity 117, member A							2.0	3.0	3.0					17																	47841404		774	1745	2519	SO:0001583	missense	81558							g.chr17:47841404G>A	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.46C>T	17.37:g.47841404G>A	ENSP00000240364:p.Pro16Ser					FAM117A_uc010wlz.1_Intron	p.P16S	NM_030802	NP_110429	Q9C073	F117A_HUMAN			1	115	-			16					B7Z7Q3	Missense_Mutation	SNP	ENST00000240364.2	37	c.46C>T	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	G	7.098	0.573455	0.13623	.	.	ENSG00000121104	ENST00000240364;ENST00000506156	.	.	.	4.04	4.04	0.47022	.	0.659002	0.12606	N	0.454286	T	0.31544	0.0800	N	0.08118	0	0.80722	D	1	P	0.44816	0.844	B	0.43658	0.426	T	0.06180	-1.0841	9	0.32370	T	0.25	-0.0252	11.885	0.52598	0.0:0.0:1.0:0.0	.	16	Q9C073	F117A_HUMAN	S	16	.	ENSP00000240364:P16S	P	-	1	0	FAM117A	45196403	0.916000	0.31088	0.999000	0.59377	0.189000	0.23516	1.280000	0.33202	2.236000	0.73375	0.637000	0.83480	CCG		0.806	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		3	2	0	0	0	0	3	2				
SGCA	6442	broad.mit.edu	37	17	48252743	48252744	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48252743_48252744GG>AA	ENST00000262018.3	+	9	1145_1146	c.1109_1110GG>AA	c.(1108-1110)cGG>cAA	p.R370Q	SGCA_ENST00000543315.1_Missense_Mutation_p.R246Q|SGCA_ENST00000344627.6_Missense_Mutation_p.R246Q|SGCA_ENST00000513942.1_3'UTR|HILS1_ENST00000504307.1_RNA	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	370					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ACAGGTGAGCGGCTGCCTCCCC	0.649																																						uc002iqi.2		NA																	0				ovary(2)	2						c.(1108-1110)CGG>CAA		sarcoglycan, alpha isoform 1 precursor																																				SO:0001583	missense	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48252743_48252744GG>AA	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	Exception_encountered	17.37:g.48252743_48252744delinsAA	ENSP00000262018:p.Arg370Gln					SGCA_uc002iqj.2_Missense_Mutation_p.R246Q|SGCA_uc010wmi.1_RNA|HILS1_uc010wmj.1_5'Flank|HILS1_uc002iqk.2_Intron|HILS1_uc002iql.2_5'Flank	p.R370Q	NM_000023	NP_000014	Q16586	SGCA_HUMAN			9	1145_1146	+			370			Cytoplasmic (Potential).		A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	DNP	ENST00000262018.3	37	c.1109_1110GG>AA	CCDS32679.1																																																																																				0.649	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		5	22	0	0	0	0	5	22				
TMEM92	162461	broad.mit.edu	37	17	48356592	48356592	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48356592G>A	ENST00000300433.3	+	6	513	c.403G>A	c.(403-405)Gag>Aag	p.E135K	TMEM92_ENST00000507382.1_Missense_Mutation_p.E135K|RP11-893F2.9_ENST00000508851.1_RNA	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	135	Pro-rich.					integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						AACTCCCACAGAGCCACCCCC	0.597																																						uc002iqn.1		NA																	0					0						c.(403-405)GAG>AAG		transmembrane protein 92 precursor							130.0	148.0	142.0					17																	48356592		2203	4300	6503	SO:0001583	missense	162461					integral to membrane		g.chr17:48356592G>A		CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.403G>A	17.37:g.48356592G>A	ENSP00000300433:p.Glu135Lys						p.E135K	NM_153229	NP_694961	Q6UXU6	TMM92_HUMAN			5	433	+			135			Pro-rich.|Cytoplasmic (Potential).		Q8NBF0	Missense_Mutation	SNP	ENST00000300433.3	37	c.403G>A	CCDS11562.1	.	.	.	.	.	.	.	.	.	.	G	36	5.722791	0.96847	.	.	ENSG00000167105	ENST00000300433;ENST00000507382	T;T	0.09538	2.97;2.97	4.53	4.53	0.55603	.	0.000000	0.46758	D	0.000270	T	0.28267	0.0698	M	0.74258	2.255	0.35947	D	0.833643	D	0.71674	0.998	D	0.63703	0.917	T	0.22034	-1.0228	10	0.34782	T	0.22	-10.7095	12.6372	0.56689	0.0:0.0:1.0:0.0	.	135	Q6UXU6	TMM92_HUMAN	K	135	ENSP00000300433:E135K;ENSP00000425144:E135K	ENSP00000300433:E135K	E	+	1	0	TMEM92	45711591	0.998000	0.40836	0.880000	0.34516	0.932000	0.56968	4.159000	0.58157	2.351000	0.79841	0.462000	0.41574	GAG		0.597	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		31	197	0	0	0	0	31	197				
CACNA1G	8913	broad.mit.edu	37	17	48669144	48669144	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48669144G>A	ENST00000359106.5	+	12	2684	c.2684G>A	c.(2683-2685)cGg>cAg	p.R895Q	CACNA1G_ENST00000507896.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R895Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R895Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R895Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R895Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R895Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R895Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R895Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R895Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R895Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R895Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R895Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	895					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTCTGAGCGGGATGGGGAC	0.602																																						uc002irk.1		NA																	0				breast(1)	1						c.(2683-2685)CGG>CAG		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						65.0	71.0	69.0					17																	48669144		2029	4177	6206	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48669144G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2684G>A	17.37:g.48669144G>A	ENSP00000352011:p.Arg895Gln					CACNA1G_uc002iri.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irj.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R895Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R895Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R808Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R808Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R808Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R808Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R808Q	p.R895Q	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		12	3056	+	Breast(11;6.7e-17)		895			Extracellular (Potential).|II.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.2684G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	15.12	2.739729	0.49045	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.44	5.44	0.79542	Ion transport (1);	0.112696	0.56097	D	0.000025	D	0.96528	0.8867	N	0.04705	-0.18	0.44966	D	0.997987	D;B;D;D;P;D;D;D;D;P;D;P;B;P;D;P;P;D;P;P;D;P;P;P;D;P	0.89917	0.999;0.175;1.0;0.999;0.642;0.998;0.999;0.982;0.999;0.677;0.99;0.946;0.307;0.49;1.0;0.462;0.784;0.985;0.642;0.642;0.999;0.462;0.798;0.642;0.958;0.744	D;B;D;D;B;D;D;P;D;B;P;P;B;B;D;B;B;B;B;B;D;B;B;B;B;B	0.79784	0.99;0.112;0.979;0.955;0.255;0.915;0.993;0.803;0.993;0.174;0.756;0.51;0.112;0.235;0.993;0.112;0.274;0.441;0.255;0.34;0.986;0.255;0.281;0.174;0.353;0.18	D	0.94859	0.8020	10	0.23302	T	0.38	.	12.5922	0.56449	0.0763:0.0:0.9237:0.0	.	895;895;895;895;895;895;895;895;895;895;895;895;895;895;895;895;895;895;895;895;895;895;895;895;895;895	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	Q	895	ENSP00000353990:R895Q;ENSP00000339302:R895Q;ENSP00000392390:R895Q;ENSP00000347078:R895Q;ENSP00000409759:R895Q;ENSP00000425522:R895Q;ENSP00000426261:R895Q;ENSP00000425451:R895Q;ENSP00000422407:R895Q;ENSP00000426814:R895Q;ENSP00000427238:R895Q;ENSP00000423112:R895Q;ENSP00000420918:R895Q;ENSP00000426172:R895Q;ENSP00000423045:R895Q;ENSP00000427173:R895Q;ENSP00000426098:R895Q;ENSP00000425698:R895Q;ENSP00000426232:R895Q;ENSP00000423317:R895Q;ENSP00000350979:R895Q;ENSP00000352011:R895Q;ENSP00000414388:R895Q;ENSP00000423155:R895Q;ENSP00000422268:R895Q;ENSP00000421518:R895Q	ENSP00000339302:R895Q	R	+	2	0	CACNA1G	46024143	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.629000	0.54266	2.561000	0.86390	0.462000	0.41574	CGG		0.602	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		10	37	0	0	0	0	10	37				
SPAG9	9043	broad.mit.edu	37	17	49098644	49098644	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:49098644G>A	ENST00000262013.7	-	7	1074	c.866C>T	c.(865-867)cCt>cTt	p.P289L	SPAG9_ENST00000510283.1_Missense_Mutation_p.P132L|SPAG9_ENST00000357122.4_Missense_Mutation_p.P275L|SPAG9_ENST00000505279.1_Missense_Mutation_p.P275L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	289					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGTATCAGTAGGAATTGTTGC	0.393																																						uc002itc.2		NA																	0				lung(4)|breast(1)	5						c.(865-867)CCT>CTT		sperm associated antigen 9 isoform 1							195.0	183.0	187.0					17																	49098644		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49098644G>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.866C>T	17.37:g.49098644G>A	ENSP00000262013:p.Pro289Leu					SPAG9_uc002itb.2_Missense_Mutation_p.P275L|SPAG9_uc002itd.2_Missense_Mutation_p.P275L|SPAG9_uc002itf.2_Missense_Mutation_p.P110L|SPAG9_uc002ita.2_Missense_Mutation_p.P132L|SPAG9_uc002ite.2_Missense_Mutation_p.P119L	p.P289L	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		7	1075	-			289					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.866C>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620446	0.87460	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000510855	T;T;T;T	0.23348	1.99;1.91;1.94;1.94	5.74	5.74	0.90152	.	0.297530	0.33438	N	0.004918	T	0.42086	0.1187	L	0.50333	1.59	0.80722	D	1	D;B;B;B;P;B	0.69078	0.997;0.006;0.0;0.0;0.666;0.021	P;B;B;B;B;B	0.62298	0.9;0.014;0.003;0.001;0.228;0.017	T	0.03268	-1.1054	10	0.18276	T	0.48	-8.7829	18.102	0.89508	0.0:0.0:1.0:0.0	.	275;289;275;289;275;132	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	L	289;45;31;31;132;275;275;146	ENSP00000262013:P289L;ENSP00000423165:P132L;ENSP00000426900:P275L;ENSP00000349636:P275L	ENSP00000262013:P289L	P	-	2	0	SPAG9	46453643	1.000000	0.71417	0.120000	0.21714	0.988000	0.76386	7.109000	0.77062	2.716000	0.92895	0.563000	0.77884	CCT		0.393	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		31	138	0	0	0	0	31	138				
KIF2B	84643	broad.mit.edu	37	17	51901498	51901498	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:51901498G>A	ENST00000268919.4	+	1	1260	c.1104G>A	c.(1102-1104)ttG>ttA	p.L368L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	368	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATGATTTGTTGAACTGGAAGA	0.463																																						uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(1102-1104)TTG>TTA		kinesin family member 2B							112.0	107.0	109.0					17																	51901498		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901498G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1104G>A	17.37:g.51901498G>A						uc010wna.1_RNA	p.L368L	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1260	+			368			Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.1104G>A	CCDS32685.1																																																																																				0.463	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		13	85	0	0	0	0	13	85				
AKAP1	8165	broad.mit.edu	37	17	55184035	55184035	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:55184035G>A	ENST00000337714.3	+	2	1443	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	AKAP1_ENST00000572557.1_Missense_Mutation_p.E404K|AKAP1_ENST00000571629.1_Missense_Mutation_p.E404K|AKAP1_ENST00000314126.3_Missense_Mutation_p.E404K|AKAP1_ENST00000539273.1_Missense_Mutation_p.E404K	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	404					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGACACTGCGGAGCCTGCCAC	0.622																																						uc002iux.2		NA																	0				ovary(1)	1						c.(1210-1212)GAG>AAG		A-kinase anchor protein 1 precursor							49.0	56.0	54.0					17																	55184035		2203	4299	6502	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55184035G>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1210G>A	17.37:g.55184035G>A	ENSP00000337736:p.Glu404Lys					AKAP1_uc010wnl.1_Missense_Mutation_p.E404K|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.E404K	p.E404K	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			2	1441	+	Breast(9;5.46e-08)		404					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.1210G>A	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362694	0.61403	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.20881	2.46;2.04;2.46	5.15	2.07	0.26955	.	0.504623	0.22360	N	0.061085	T	0.16981	0.0408	M	0.63428	1.95	0.09310	N	1	P	0.38922	0.651	B	0.32677	0.15	T	0.17048	-1.0382	10	0.62326	D	0.03	-12.4045	5.1069	0.14789	0.1834:0.1709:0.6457:0.0	.	404	Q92667	AKAP1_HUMAN	K	404;404;446;404	ENSP00000337736:E404K;ENSP00000314075:E404K;ENSP00000443139:E404K	ENSP00000314075:E404K	E	+	1	0	AKAP1	52539034	0.769000	0.28531	0.001000	0.08648	0.002000	0.02628	3.462000	0.53042	0.328000	0.23435	0.561000	0.74099	GAG		0.622	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			11	64	0	0	0	0	11	64				
EPX	8288	broad.mit.edu	37	17	56274318	56274318	+	Missense_Mutation	SNP	C	C	T	rs138263557		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56274318C>T	ENST00000225371.5	+	7	930	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	274					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CAATGACCCCCGCATCAAGAA	0.562																																						uc002ivq.2		NA																	0				ovary(2)	2						c.(820-822)CGC>TGC		eosinophil peroxidase preproprotein		C	CYS/ARG	0,4406		0,0,2203	143.0	128.0	133.0		820	3.9	1.0	17	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPX	NM_000502.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	274/716	56274318	1,13005	2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274318C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.820C>T	17.37:g.56274318C>T	ENSP00000225371:p.Arg274Cys						p.R274C	NM_000502	NP_000493	P11678	PERE_HUMAN			7	906	+			274					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.820C>T	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901989	0.72754	0.0	1.16E-4	ENSG00000121053	ENST00000225371	T	0.73575	-0.76	4.86	3.88	0.44766	.	0.051148	0.85682	D	0.000000	D	0.89164	0.6637	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91576	0.5275	10	0.87932	D	0	-17.6383	13.1985	0.59754	0.0:0.8383:0.1617:0.0	.	274	P11678	PERE_HUMAN	C	274	ENSP00000225371:R274C	ENSP00000225371:R274C	R	+	1	0	EPX	53629317	0.910000	0.30920	0.993000	0.49108	0.784000	0.44337	1.909000	0.39917	1.161000	0.42604	0.462000	0.41574	CGC		0.562	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		21	68	0	0	0	0	21	68				
EPX	8288	broad.mit.edu	37	17	56280672	56280672	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56280672G>A	ENST00000225371.5	+	11	2049	c.1939G>A	c.(1939-1941)Gga>Aga	p.G647R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	647				RDGDRFWWQKRGVFTK -> ETETGSGGRTRCFHQ (in Ref. 3; AA sequence). {ECO:0000305}.	defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	AGCCCGAGACGGAGACAGGTA	0.507																																						uc002ivq.2		NA																	0				ovary(2)	2						c.(1939-1941)GGA>AGA		eosinophil peroxidase preproprotein							42.0	46.0	45.0					17																	56280672		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56280672G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1939G>A	17.37:g.56280672G>A	ENSP00000225371:p.Gly647Arg						p.G647R	NM_000502	NP_000493	P11678	PERE_HUMAN			11	2025	+			647	RDGDRFWWQKRGVFTK -> ETETGSGGRTRCFHQ (in Ref. 3; AA sequence).				Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1939G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135514	0.94517	.	.	ENSG00000121053	ENST00000225371	T	0.76578	-1.03	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.93080	0.7797	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95398	0.8487	10	0.87932	D	0	-15.019	17.3349	0.87277	0.0:0.0:1.0:0.0	.	647	P11678	PERE_HUMAN	R	647	ENSP00000225371:G647R	ENSP00000225371:G647R	G	+	1	0	EPX	53635671	1.000000	0.71417	0.950000	0.38849	0.960000	0.62799	9.842000	0.99487	2.683000	0.91414	0.655000	0.94253	GGA		0.507	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		22	39	0	0	0	0	22	39				
MKS1	54903	broad.mit.edu	37	17	56285488	56285488	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56285488G>A	ENST00000393119.2	-	13	1217	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	MKS1_ENST00000537529.2_Silent_p.F371F|MKS1_ENST00000313863.6_Silent_p.F381F|MKS1_ENST00000546108.1_Silent_p.F178F|MKS1_ENST00000337050.7_Silent_p.F381F	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	381	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCATGGAGGAAGAAGGCTT	0.527																																						uc002ivr.1		NA																	0				ovary(1)	1						c.(1141-1143)TTC>TTT		Meckel syndrome type 1 protein isoform 1							87.0	97.0	94.0					17																	56285488		2036	4185	6221	SO:0001819	synonymous_variant	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56285488G>A	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1143C>T	17.37:g.56285488G>A						MKS1_uc010wnq.1_Silent_p.F178F|MKS1_uc002ivs.1_Silent_p.F381F	p.F381F	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			13	1218	-			381			B9.		B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	c.1143C>T	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	G	9.338	1.062403	0.19987	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.58	2.46	0.29980	.	.	.	.	.	T	0.53802	0.1819	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42378	-0.9455	4	.	.	.	-34.6113	5.6921	0.17835	0.2371:0.1404:0.6225:0.0	.	.	.	.	F	382	.	.	S	-	2	0	MKS1	53640487	0.995000	0.38212	1.000000	0.80357	0.897000	0.52465	1.254000	0.32897	0.293000	0.22520	0.555000	0.69702	TCC		0.527	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		10	50	0	0	0	0	10	50				
RNF43	54894	broad.mit.edu	37	17	56435132	56435132	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56435132G>A	ENST00000584437.1	-	8	3960	c.2005C>T	c.(2005-2007)Ccc>Tcc	p.P669S	RNF43_ENST00000581868.1_Missense_Mutation_p.P542S|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.P628S|RNF43_ENST00000577625.1_Missense_Mutation_p.P542S|RNF43_ENST00000577716.1_Missense_Mutation_p.P669S|RNF43_ENST00000407977.2_Missense_Mutation_p.P669S|RNF43_ENST00000500597.2_Missense_Mutation_p.P628S			Q68DV7	RNF43_HUMAN	ring finger protein 43	669	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCATCCTGGGGCCGAGAGCCA	0.597																																						uc002iwf.2		NA																	0				ovary(1)	1						c.(2005-2007)CCC>TCC		ring finger protein 43 precursor							72.0	85.0	81.0					17																	56435132		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435132G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2005C>T	17.37:g.56435132G>A	ENSP00000463069:p.Pro669Ser					RNF43_uc010wnv.1_Missense_Mutation_p.P628S|RNF43_uc002iwh.3_Missense_Mutation_p.P669S|RNF43_uc002iwg.3_Missense_Mutation_p.P669S|RNF43_uc010dcw.2_Missense_Mutation_p.P542S	p.P669S	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			8	3961	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		669			Pro-rich.|Cytoplasmic (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.2005C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	9.498	1.102488	0.20632	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.10099	3.02;2.91	5.37	1.02	0.19986	.	0.365993	0.23549	N	0.046984	T	0.06050	0.0157	N	0.20986	0.625	0.30019	N	0.814526	B;B;B	0.16396	0.005;0.017;0.003	B;B;B	0.17433	0.003;0.018;0.001	T	0.16897	-1.0387	10	0.52906	T	0.07	-15.1785	3.2386	0.06773	0.0863:0.1511:0.4509:0.3116	.	628;669;669	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	S	669;628	ENSP00000385328:P669S;ENSP00000441969:P628S	ENSP00000385328:P669S	P	-	1	0	RNF43	53790131	0.977000	0.34250	0.733000	0.30861	0.256000	0.26092	1.232000	0.32636	-0.006000	0.14370	0.436000	0.28706	CCC		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		33	163	0	0	0	0	33	163				
C17orf47	284083	broad.mit.edu	37	17	56620991	56620991	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56620991C>T	ENST00000321691.3	-	1	738	c.557G>A	c.(556-558)gGa>gAa	p.G186E	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	186										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACTCTGACTCCTTGGGGGTT	0.433																																						uc002iwq.1		NA																	0				breast(1)	1						c.(556-558)GGA>GAA		hypothetical protein LOC284083							107.0	115.0	112.0					17																	56620991		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620991C>T		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.557G>A	17.37:g.56620991C>T	ENSP00000354874:p.Gly186Glu					SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	p.G186E	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			1	693	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		186					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.557G>A	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549356	0.86127	.	.	ENSG00000181013	ENST00000321691	T	0.67345	-0.26	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000004	T	0.74405	0.3712	L	0.34521	1.04	0.41061	D	0.985372	D	0.89917	1.0	D	0.97110	1.0	T	0.76713	-0.2858	10	0.87932	D	0	-18.492	15.5121	0.75793	0.0:1.0:0.0:0.0	.	186	Q8NEP4	CQ047_HUMAN	E	186	ENSP00000354874:G186E	ENSP00000354874:G186E	G	-	2	0	C17orf47	53975990	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.717000	0.54911	2.731000	0.93534	0.655000	0.94253	GGA		0.433	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		33	154	0	0	0	0	33	154				
TEX14	56155	broad.mit.edu	37	17	56664947	56664947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56664947C>T	ENST00000240361.8	-	17	2886	c.2801G>A	c.(2800-2802)tGg>tAg	p.W934*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.W928*|TEX14_ENST00000389934.3_Nonsense_Mutation_p.W928*			Q8IWB6	TEX14_HUMAN	testis expressed 14	934					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCACTTTTCCATTTTAAGTG	0.328											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dcz.1		NA																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(2800-2802)TGG>TAG		testis expressed sequence 14 isoform a							78.0	80.0	79.0					17																	56664947		2203	4300	6503	SO:0001587	stop_gained	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56664947C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2801G>A	17.37:g.56664947C>T	ENSP00000240361:p.Trp934*		OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1017	TEX14_uc002iwr.1_Nonsense_Mutation_p.W928*|TEX14_uc002iws.1_Nonsense_Mutation_p.W928*|TEX14_uc010dda.1_Nonsense_Mutation_p.W708*	p.W934*	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			17	2919	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		934					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_Mutation	SNP	ENST00000240361.8	37	c.2801G>A	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	36	5.744962	0.96882	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.2	5.2	0.72013	.	0.183162	0.40302	N	0.001129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9414	14.1155	0.65151	0.0:1.0:0.0:0.0	.	.	.	.	X	934;928;928	.	ENSP00000240361:W934X	W	-	2	0	TEX14	54019946	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	3.451000	0.52964	2.712000	0.92718	0.557000	0.71058	TGG		0.328	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			14	31	0	0	0	0	14	31				
HEATR6	63897	broad.mit.edu	37	17	58143574	58143574	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58143574G>A	ENST00000184956.6	-	9	1428	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L	HEATR6_ENST00000585976.1_Missense_Mutation_p.P471L	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	471							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TCTTACCTTTGGAGAAGGGTC	0.383																																						uc002iyk.1		NA																	0				ovary(1)|skin(1)	2						c.(1411-1413)CCA>CTA		HEAT repeat containing 6							52.0	58.0	56.0					17																	58143574		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58143574G>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1412C>T	17.37:g.58143574G>A	ENSP00000184956:p.Pro471Leu					HEATR6_uc010ddk.1_Missense_Mutation_p.P10L|HEATR6_uc010wos.1_Missense_Mutation_p.P303L	p.P471L	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		9	1429	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		471			HEAT 2.		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1412C>T	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508659	0.85282	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.68903	-0.36	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.98	T	0.79208	-0.1898	10	0.41790	T	0.15	-14.7553	19.5152	0.95160	0.0:0.0:1.0:0.0	.	318;471	E7ESB9;Q6AI08	.;HEAT6_HUMAN	L	471;318	ENSP00000184956:P471L	ENSP00000184956:P471L	P	-	2	0	HEATR6	55498356	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	8.966000	0.93397	2.937000	0.99478	0.650000	0.86243	CCA		0.383	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		41	39	0	0	0	0	41	39				
CA4	762	broad.mit.edu	37	17	58235145	58235145	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58235145T>G	ENST00000300900.4	+	5	608	c.509T>G	c.(508-510)gTg>gGg	p.V170G		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	170					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GCCTTTCTGGTGGAGGTGGGA	0.587																																						uc002iym.3		NA																	0					0						c.(508-510)GTG>GGG		carbonic anhydrase IV precursor	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						80.0	80.0	80.0					17																	58235145		2203	4300	6503	SO:0001583	missense	762				bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	g.chr17:58235145T>G	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.509T>G	17.37:g.58235145T>G	ENSP00000300900:p.Val170Gly					CA4_uc010wou.1_Intron	p.V170G	NM_000717	NP_000708	P22748	CAH4_HUMAN	Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		5	603	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		170					B4DQA4|Q6FHI7	Missense_Mutation	SNP	ENST00000300900.4	37	c.509T>G	CCDS11624.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198465	0.38806	.	.	ENSG00000167434	ENST00000300900	T	0.71461	-0.57	4.75	3.66	0.41972	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.549219	0.18272	N	0.146285	T	0.81245	0.4782	M	0.81802	2.56	0.54753	D	0.999988	D	0.89917	1.0	D	0.72982	0.979	T	0.81667	-0.0829	10	0.72032	D	0.01	.	6.5206	0.22272	0.0:0.1086:0.0:0.8913	.	170	P22748	CAH4_HUMAN	G	170	ENSP00000300900:V170G	ENSP00000300900:V170G	V	+	2	0	CA4	55589927	0.873000	0.30073	0.997000	0.53966	0.066000	0.16364	3.059000	0.49947	1.892000	0.54788	0.379000	0.24179	GTG		0.587	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		5	35	0	0	0	0	5	35				
APPBP2	10513	broad.mit.edu	37	17	58539249	58539249	+	Missense_Mutation	SNP	T	T	A	rs144286983		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58539249T>A	ENST00000083182.3	-	8	1145	c.858A>T	c.(856-858)aaA>aaT	p.K286N	APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	286					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TATCAGAATATTTTGGGTGTT	0.284																																						uc002iys.1		NA																	0					0						c.(856-858)AAA>AAT		amyloid beta precursor protein-binding protein							101.0	111.0	108.0					17																	58539249		2203	4298	6501	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58539249T>A	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.858A>T	17.37:g.58539249T>A	ENSP00000083182:p.Lys286Asn					APPBP2_uc010ddl.1_Missense_Mutation_p.K215N	p.K286N	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		8	1146	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		286					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.858A>T	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216511	0.79352	.	.	ENSG00000062725	ENST00000083182	T	0.75050	-0.9	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81069	0.4746	M	0.69823	2.125	0.80722	D	1	P	0.45126	0.851	P	0.55391	0.775	T	0.80279	-0.1449	10	0.37606	T	0.19	-0.0032	11.2302	0.48907	0.0:0.0738:0.0:0.9262	.	286	Q92624	APBP2_HUMAN	N	286	ENSP00000083182:K286N	ENSP00000083182:K286N	K	-	3	2	APPBP2	55894031	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.369000	0.44231	2.025000	0.59659	0.377000	0.23210	AAA		0.284	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		66	165	0	0	0	0	66	165				
PPM1D	8493	broad.mit.edu	37	17	58740467	58740467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58740467C>T	ENST00000305921.3	+	6	1604	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	458					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGAGATAGCTCGAGAGAATGT	0.433											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002iyt.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(1372-1374)CGA>TGA		protein phosphatase 1D							103.0	100.0	101.0					17																	58740467		2203	4300	6503	SO:0001587	stop_gained	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740467C>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1372C>T	17.37:g.58740467C>T	ENSP00000306682:p.Arg458*		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033	PPM1D_uc010ddm.1_RNA	p.R458*	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1594	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		458					Q53XP4|Q6P991|Q8IVR6	Nonsense_Mutation	SNP	ENST00000305921.3	37	c.1372C>T	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	C	38	6.858777	0.97889	.	.	ENSG00000170836	ENST00000305921	.	.	.	6.08	5.11	0.69529	.	0.263285	0.29861	N	0.011002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7109	13.1602	0.59540	0.3489:0.6511:0.0:0.0	.	.	.	.	X	458	.	ENSP00000306682:R458X	R	+	1	2	PPM1D	56095249	0.995000	0.38212	1.000000	0.80357	0.708000	0.40852	1.965000	0.40471	1.560000	0.49568	0.591000	0.81541	CGA		0.433	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		17	71	0	0	0	0	17	71				
ACE	1636	broad.mit.edu	37	17	61574518	61574518	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:61574518C>T	ENST00000290866.4	+	25	3736	c.3712C>T	c.(3712-3714)Cca>Tca	p.P1238S	ACE_ENST00000413513.3_Missense_Mutation_p.P623S|ACE_ENST00000577647.1_Intron|ACE_ENST00000428043.1_Intron|ACE_ENST00000490216.2_Intron|ACE_ENST00000421982.2_Missense_Mutation_p.P443S|ACE_ENST00000290863.6_Missense_Mutation_p.P664S	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1238					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGGCCCCTCCCAGACAGCGG	0.716																																						uc002jau.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(3712-3714)CCA>TCA		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						12.0	15.0	14.0					17																	61574518		2186	4275	6461	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61574518C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3712C>T	17.37:g.61574518C>T	ENSP00000290866:p.Pro1238Ser					ACE_uc002jav.1_Missense_Mutation_p.P664S|ACE_uc010ddv.1_Missense_Mutation_p.P465S|ACE_uc010wpj.1_Missense_Mutation_p.P623S|ACE_uc002jaw.1_Intron|ACE_uc010wpk.1_Missense_Mutation_p.P443S	p.P1238S	NM_000789	NP_000780	P12821	ACE_HUMAN			25	3734	+			1238			Extracellular (Potential).		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.3712C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	c	6.848	0.525713	0.13066	.	.	ENSG00000159640	ENST00000290866;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T	0.32272	1.46;1.63;1.59;1.66	4.13	-3.0	0.05480	.	1.780330	0.02763	N	0.118769	T	0.22437	0.0541	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.09022	0.0;0.001;0.002;0.002	B;B;B;B	0.08055	0.002;0.001;0.003;0.001	T	0.12319	-1.0552	10	0.31617	T	0.26	1.5624	3.6011	0.08024	0.2644:0.2677:0.3836:0.0844	.	443;623;664;1238	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	S	1238;664;623;443	ENSP00000290866:P1238S;ENSP00000290863:P664S;ENSP00000392247:P623S;ENSP00000387760:P443S	ENSP00000290863:P664S	P	+	1	0	ACE	58928250	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.635000	0.02018	-0.558000	0.06118	0.550000	0.68814	CCA		0.716	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			7	20	0	0	0	0	7	20				
GH2	2689	broad.mit.edu	37	17	61957743	61957743	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:61957743T>G	ENST00000423893.2	-	5	653	c.592A>C	c.(592-594)Aag>Cag	p.K198Q	GH2_ENST00000332800.7_3'UTR|GH2_ENST00000456543.2_Silent_p.T196T|GH2_ENST00000449787.2_Missense_Mutation_p.K183Q			P01242	SOM2_HUMAN	growth hormone 2	198					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GTCTCGACCTTGTCCATGTCC	0.572																																						uc002jco.1		NA																	0				upper_aerodigestive_tract(2)|pancreas(1)	3						c.(592-594)AAG>CAG		growth hormone 2 isoform 1							160.0	129.0	140.0					17																	61957743		2203	4297	6500	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61957743T>G	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.592A>C	17.37:g.61957743T>G	ENSP00000409294:p.Lys198Gln					GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_3'UTR|GH2_uc002jcm.1_Silent_p.T196T|GH2_uc002jcn.1_Missense_Mutation_p.K183Q	p.K198Q	NM_002059	NP_002050	P01242	SOM2_HUMAN			5	654	-			198					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.592A>C	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	t	12.34	1.908419	0.33721	.	.	ENSG00000136487	ENST00000423893;ENST00000449787	D;D	0.92249	-3.0;-3.0	2.74	2.74	0.32292	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	D	0.95149	0.8428	.	.	.	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.79108	0.924;0.992	D	0.94728	0.7907	8	0.87932	D	0	.	9.9433	0.41593	0.0:0.0:0.0:1.0	.	198;183	P01242;O14643	SOM2_HUMAN;.	Q	198;183	ENSP00000409294:K198Q;ENSP00000410618:K183Q	ENSP00000409294:K198Q	K	-	1	0	GH2	59311475	1.000000	0.71417	0.088000	0.20740	0.051000	0.14879	5.101000	0.64566	1.255000	0.44051	0.254000	0.18369	AAG		0.572	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		29	57	0	0	0	0	29	57				
SCN4A	6329	broad.mit.edu	37	17	62050171	62050171	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:62050171G>A	ENST00000435607.1	-	1	107	c.31C>T	c.(31-33)Cct>Tct	p.P11S	SCN4A_ENST00000578147.1_Missense_Mutation_p.P11S|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	11				VP -> AR (in Ref. 1; AAA60554). {ECO:0000305}.	membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCCCAGAGGCACCAGGGTG	0.677																																						uc002jds.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(31-33)CCT>TCT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						19.0	20.0	19.0					17																	62050171		2109	4226	6335	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62050171G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.31C>T	17.37:g.62050171G>A	ENSP00000396320:p.Pro11Ser						p.P11S	NM_000334	NP_000325	P35499	SCN4A_HUMAN			1	108	-			11	VP -> AR (in Ref. 1; AAA60554).				Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.31C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373406	0.61624	.	.	ENSG00000007314	ENST00000435607	D	0.97598	-4.45	4.49	4.49	0.54785	.	0.165879	0.53938	D	0.000049	D	0.96423	0.8833	L	0.48362	1.52	0.58432	D	0.999996	P	0.51449	0.945	P	0.54312	0.748	D	0.94939	0.8089	10	0.23891	T	0.37	.	14.7156	0.69265	0.0:0.0:1.0:0.0	.	11	P35499	SCN4A_HUMAN	S	11	ENSP00000396320:P11S	ENSP00000396320:P11S	P	-	1	0	SCN4A	59403903	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	3.582000	0.53921	2.342000	0.79632	0.305000	0.20034	CCT		0.677	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		10	18	0	0	0	0	10	18				
POLG2	11232	broad.mit.edu	37	17	62479090	62479090	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:62479090G>A	ENST00000539111.2	-	6	1204	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	POLG2_ENST00000582501.1_5'UTR	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	379					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCTTAATAGGGGCTAAACAAG	0.373																																					Colon(3;18 21 435 17652 48887)	uc002jei.2		NA																	0				central_nervous_system(1)	1						c.(1135-1137)GCC>GCT		DNA polymerase subunit gamma-2, mitochondrial							69.0	68.0	68.0					17																	62479090		2203	4300	6503	SO:0001819	synonymous_variant	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62479090G>A	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.1137C>T	17.37:g.62479090G>A							p.A379A	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		6	1220	-	Breast(5;2.15e-14)		379					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Silent	SNP	ENST00000539111.2	37	c.1137C>T	CCDS32706.1																																																																																				0.373	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		9	62	0	0	0	0	9	62				
SMURF2	64750	broad.mit.edu	37	17	62577101	62577101	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:62577101G>A	ENST00000262435.9	-	8	765	c.578C>T	c.(577-579)tCc>tTc	p.S193F	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	193					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGAATATTCGGATGCCGGTCT	0.383																																						uc002jep.1		NA																	0				skin(3)|lung(1)	4						c.(577-579)TCC>TTC		SMAD specific E3 ubiquitin protein ligase 2							99.0	94.0	96.0					17																	62577101		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62577101G>A	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.578C>T	17.37:g.62577101G>A	ENSP00000262435:p.Ser193Phe					SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	p.S193F	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		8	966	-	Breast(5;1.32e-14)		193					Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.578C>T	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134751	0.37728	.	.	ENSG00000108854	ENST00000262435	T	0.46063	0.88	5.72	4.69	0.59074	WW/Rsp5/WWP (1);	0.185699	0.48767	D	0.000167	T	0.33440	0.0863	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.13019	-1.0525	10	0.56958	D	0.05	.	18.3537	0.90348	0.0:0.1282:0.8718:0.0	.	193	Q9HAU4	SMUF2_HUMAN	F	193	ENSP00000262435:S193F	ENSP00000262435:S193F	S	-	2	0	SMURF2	60007563	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	5.276000	0.65580	2.693000	0.91896	0.650000	0.86243	TCC		0.383	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		13	75	0	0	0	0	13	75				
APOH	350	broad.mit.edu	37	17	64222175	64222175	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:64222175G>A	ENST00000205948.6	-	3	346	c.309C>T	c.(307-309)ccC>ccT	p.P103P		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	103	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGATCGTGTTGGGATATTCAA	0.363																																					Melanoma(155;624 1882 16869 48804 51309)	uc002jfn.3		NA																	0					0						c.(307-309)CCC>CCT		apolipoprotein H precursor							113.0	103.0	106.0					17																	64222175		2203	4300	6503	SO:0001819	synonymous_variant	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64222175G>A		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.309C>T	17.37:g.64222175G>A							p.P103P	NM_000042	NP_000033	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		3	368	-			103			Sushi 2.		B2R9M3|Q9UCN7	Silent	SNP	ENST00000205948.6	37	c.309C>T	CCDS11663.1																																																																																				0.363	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		27	28	0	0	0	0	27	28				
HELZ	9931	broad.mit.edu	37	17	65105256	65105256	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:65105256C>T	ENST00000358691.5	-	29	4631	c.4465G>A	c.(4465-4467)Gga>Aga	p.G1489R	HELZ_ENST00000580168.1_Missense_Mutation_p.G1490R	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1489						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATAGGTAATCCCGAGGGGTTC	0.448																																						uc010wqk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(4468-4470)GGA>AGA		helicase with zinc finger domain							63.0	65.0	64.0					17																	65105256		1847	4094	5941	SO:0001583	missense	9931							g.chr17:65105256C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4465G>A	17.37:g.65105256C>T	ENSP00000351524:p.Gly1489Arg					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.G1489R|HELZ_uc010der.2_Missense_Mutation_p.G33R	p.G1490R	NM_014877	NP_055692					29	4655	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.4468G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	8.284	0.816315	0.16607	.	.	ENSG00000198265	ENST00000358691	D	0.84146	-1.81	5.9	5.9	0.94986	.	0.205304	0.51477	D	0.000094	T	0.81039	0.4740	L	0.32530	0.975	0.32218	N	0.575645	P;P	0.44877	0.845;0.845	B;B	0.43658	0.426;0.426	D	0.85706	0.1316	10	0.72032	D	0.01	-9.5281	13.475	0.61303	0.0:0.9288:0.0:0.0712	.	1490;1489	B7ZLW2;P42694	.;HELZ_HUMAN	R	1489	ENSP00000351524:G1489R	ENSP00000351524:G1489R	G	-	1	0	HELZ	62535718	0.955000	0.32602	0.025000	0.17156	0.373000	0.29922	3.682000	0.54656	2.804000	0.96469	0.549000	0.68633	GGA		0.448	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		15	102	0	0	0	0	15	102				
HELZ	9931	broad.mit.edu	37	17	65190132	65190132	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:65190132G>A	ENST00000358691.5	-	9	674	c.508C>T	c.(508-510)Cca>Tca	p.P170S	HELZ_ENST00000580662.1_Intron|HELZ_ENST00000580168.1_Missense_Mutation_p.P170S	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	170						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTAGGTGGTGGGCGGAAATGC	0.368																																						uc010wqk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(508-510)CCA>TCA		helicase with zinc finger domain							65.0	63.0	64.0					17																	65190132		1851	4089	5940	SO:0001583	missense	9931							g.chr17:65190132G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.508C>T	17.37:g.65190132G>A	ENSP00000351524:p.Pro170Ser					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.P170S	p.P170S	NM_014877	NP_055692					9	695	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.508C>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845463	0.51164	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.83755	-1.76;1.37	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.88930	0.6571	L	0.53249	1.67	0.80722	D	1	D;B	0.89917	1.0;0.418	D;B	0.71656	0.974;0.222	D	0.88761	0.3257	10	0.46703	T	0.11	-10.8684	18.3351	0.90285	0.0:0.0:1.0:0.0	.	170;170	B7ZLW2;P42694	.;HELZ_HUMAN	S	170	ENSP00000351524:P170S;ENSP00000411144:P170S	ENSP00000351524:P170S	P	-	1	0	HELZ	62620594	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.353000	0.97080	2.411000	0.81874	0.585000	0.79938	CCA		0.368	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		13	23	0	0	0	0	13	23				
NOL11	25926	broad.mit.edu	37	17	65715796	65715796	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:65715796G>A	ENST00000253247.4	+	2	263	c.148G>A	c.(148-150)Gat>Aat	p.D50N	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	50					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTAGGTTTCTGATCAGAAACC	0.323																																						uc002jgd.1		NA																	0					0						c.(148-150)GAT>AAT		nucleolar protein 11							33.0	31.0	32.0					17																	65715796		2202	4300	6502	SO:0001583	missense	25926					nucleolus		g.chr17:65715796G>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.148G>A	17.37:g.65715796G>A	ENSP00000253247:p.Asp50Asn					NOL11_uc010wql.1_5'UTR|NOL11_uc010deu.1_5'Flank	p.D50N	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	151	+	all_cancers(12;1.54e-10)		50					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.148G>A	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668410	0.47677	.	.	ENSG00000130935	ENST00000253247	T	0.54479	0.57	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73984	-0.3810	10	0.87932	D	0	-18.1045	14.4174	0.67160	0.0:0.0:1.0:0.0	.	50	Q9H8H0	NOL11_HUMAN	N	50	ENSP00000253247:D50N	ENSP00000253247:D50N	D	+	1	0	NOL11	63146258	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.119000	0.89579	2.190000	0.69967	0.462000	0.41574	GAT		0.323	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		10	24	0	0	0	0	10	24				
ARSG	22901	broad.mit.edu	37	17	66352844	66352844	+	Silent	SNP	C	C	T	rs115207014	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:66352844C>T	ENST00000448504.2	+	6	1399	c.603C>T	c.(601-603)ctC>ctT	p.L201L	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.L37L	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	201					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACGTGGCCCTCCCTCTTTATG	0.483													C|||	9	0.00179712	0.0068	0.0	5008	,	,		20211	0.0		0.0	False		,,,				2504	0.0					uc002jhc.2		NA																	0				ovary(1)	1						c.(601-603)CTC>CTT		Arylsulfatase G precursor		C		17,4389	23.3+/-48.9	0,17,2186	103.0	80.0	87.0		603	3.0	1.0	17	dbSNP_132	87	0,8600		0,0,4300	no	coding-synonymous	ARSG	NM_014960.3		0,17,6486	TT,TC,CC		0.0,0.3858,0.1307		201/526	66352844	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66352844C>T	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.603C>T	17.37:g.66352844C>T						ARSG_uc002jhb.1_Silent_p.L37L	p.L201L	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1399	+			201					Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	c.603C>T	CCDS11676.1																																																																																				0.483	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		12	40	0	0	0	0	12	40				
ABCA6	23460	broad.mit.edu	37	17	67124789	67124789	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:67124789G>A	ENST00000284425.2	-	8	1264	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	364					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGGCAAAAGGGCTACAAATA	0.373																																						uc002jhw.1		NA																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(1090-1092)CCT>TCT		ATP-binding cassette, sub-family A, member 6							89.0	88.0	88.0					17																	67124789		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67124789G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1090C>T	17.37:g.67124789G>A	ENSP00000284425:p.Pro364Ser						p.P364S	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			8	1265	-	Breast(10;5.65e-12)		364			Helical; (Potential).		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1090C>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166003	0.57476	.	.	ENSG00000154262	ENST00000284425	D	0.85955	-2.05	5.49	5.49	0.81192	.	0.152547	0.30227	N	0.010110	D	0.92721	0.7686	M	0.85197	2.74	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.93118	0.6522	10	0.62326	D	0.03	.	15.2287	0.73369	0.0:0.0:1.0:0.0	.	364	Q8N139	ABCA6_HUMAN	S	364	ENSP00000284425:P364S	ENSP00000284425:P364S	P	-	1	0	ABCA6	64636384	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	5.145000	0.64839	2.742000	0.94016	0.655000	0.94253	CCT		0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		15	107	0	0	0	0	15	107				
DNAI2	64446	broad.mit.edu	37	17	72310278	72310278	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72310278G>A	ENST00000311014.6	+	13	1808	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	DNAI2_ENST00000307504.5_Missense_Mutation_p.R386K|DNAI2_ENST00000446837.2_Missense_Mutation_p.E581K|DNAI2_ENST00000579490.1_Missense_Mutation_p.E638K|DNAI2_ENST00000582036.1_Missense_Mutation_p.E569K			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	581					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGTCCagaagaagaccaggt	0.587									Kartagener syndrome																													uc002jkf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1741-1743)GAA>AAA		dynein, axonemal, intermediate polypeptide 2							160.0	123.0	135.0					17																	72310278		2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72310278G>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1741G>A	17.37:g.72310278G>A	ENSP00000308312:p.Glu581Lys					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|DNAI2_uc002jki.2_RNA	p.E581K	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			13	1840	+			581					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1741G>A	CCDS11697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.425|0.425	-0.906117|-0.906117	0.02453|0.02453	.|.	.|.	ENSG00000171595|ENSG00000171595	ENST00000311014;ENST00000446837|ENST00000307504	T;T|T	0.65364|0.69685	-0.15;-0.15|-0.42	3.48|3.48	-3.53|-3.53	0.04667|0.04667	.|.	2.702300|.	0.01532|.	N|.	0.018873|.	T|T	0.45716|0.45716	0.1356|0.1356	L|L	0.31294|0.31294	0.92|0.92	0.09310|0.09310	N|N	1|1	B|.	0.17038|.	0.02|.	B|.	0.10450|.	0.005|.	T|T	0.36261|0.36261	-0.9755|-0.9755	9|7	.|0.13853	.|T	.|0.58	-0.9642|-0.9642	4.8814|4.8814	0.13681|0.13681	0.2851:0.0:0.5425:0.1723|0.2851:0.0:0.5425:0.1723	.|.	581|.	Q9GZS0|.	DNAI2_HUMAN|.	K|K	581|386	ENSP00000308312:E581K;ENSP00000400252:E581K|ENSP00000302929:R386K	.|ENSP00000302929:R386K	E|R	+|+	1|2	0|0	DNAI2|DNAI2	69821873|69821873	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-2.015000|-2.015000	0.01447|0.01447	-0.684000|-0.684000	0.05183|0.05183	0.556000|0.556000	0.70494|0.70494	GAA|AGA		0.587	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		11	45	0	0	0	0	11	45				
GRIN2C	2905	broad.mit.edu	37	17	72843643	72843643	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72843643G>A	ENST00000293190.5	-	9	1951	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	GRIN2C_ENST00000347612.4_Missense_Mutation_p.S602F	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	602					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|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)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGCCACACGGACTTGCCGAT	0.632																																						uc002jlt.1		NA																	0				ovary(2)|breast(2)	4						c.(1804-1806)TCC>TTC		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						27.0	29.0	28.0					17																	72843643		2202	4300	6502	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72843643G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1805C>T	17.37:g.72843643G>A	ENSP00000293190:p.Ser602Phe					GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.S602F	p.S602F	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			9	1961	-	all_lung(278;0.172)|Lung NSC(278;0.207)		602			Cytoplasmic (Potential).		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1805C>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607716	0.28623	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.58060	0.36	4.29	4.29	0.51040	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.71702	0.3371	M	0.72479	2.2	0.58432	D	0.999994	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.986	T	0.76377	-0.2981	10	0.87932	D	0	.	16.89	0.86084	0.0:0.0:1.0:0.0	.	636;602	Q8IW23;Q14957	.;NMDE3_HUMAN	F	602;636	ENSP00000293190:S602F	ENSP00000293190:S602F	S	-	2	0	GRIN2C	70355238	1.000000	0.71417	0.972000	0.41901	0.604000	0.37047	9.588000	0.98232	2.357000	0.79964	0.561000	0.74099	TCC		0.632	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			11	36	0	0	0	0	11	36				
USH1G	124590	broad.mit.edu	37	17	72916606	72916606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72916606C>T	ENST00000319642.1	-	2	507	c.325G>A	c.(325-327)Ggc>Agc	p.G109S		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	109					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TCCATGTGGCCCTTCATGGCA	0.607																																						uc002jme.1		NA																	0				skin(2)	2						c.(325-327)GGC>AGC		Usher syndrome 1G protein							125.0	95.0	105.0					17																	72916606		2203	4300	6503	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916606C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.325G>A	17.37:g.72916606C>T	ENSP00000320076:p.Gly109Ser					USH1G_uc010wro.1_Missense_Mutation_p.G6S	p.G109S	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			2	508	-	all_lung(278;0.172)|Lung NSC(278;0.207)		109			ANK 3.		Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.325G>A	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692853	0.30052	.	.	ENSG00000182040	ENST00000319642	T	0.41758	0.99	3.8	3.8	0.43715	Ankyrin repeat-containing domain (4);	0.253550	0.39759	N	0.001273	T	0.49474	0.1559	M	0.81112	2.525	0.58432	D	0.999995	B	0.19445	0.036	B	0.26310	0.068	T	0.58160	-0.7685	10	0.59425	D	0.04	-25.1369	16.2003	0.82067	0.0:1.0:0.0:0.0	.	109	Q495M9	USH1G_HUMAN	S	109	ENSP00000320076:G109S	ENSP00000320076:G109S	G	-	1	0	USH1G	70428201	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.123000	0.57917	2.118000	0.64928	0.313000	0.20887	GGC		0.607	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		48	50	0	0	0	0	48	50				
HID1	283987	broad.mit.edu	37	17	72950299	72950299	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72950299C>T	ENST00000425042.2	-	14	1875	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	600					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											CGGGAGCCCTCCATGGAGGTG	0.687																																						uc002jmj.3		NA																	0					0						c.(1798-1800)GAG>AAG		hypothetical protein LOC283987							26.0	29.0	28.0					17																	72950299		2202	4298	6500	SO:0001583	missense	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72950299C>T		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1798G>A	17.37:g.72950299C>T	ENSP00000413520:p.Glu600Lys					C17orf28_uc002jmi.2_Missense_Mutation_p.E2K|C17orf28_uc010wrs.1_Missense_Mutation_p.E399K	p.E600K	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN			14	1947	-	all_lung(278;0.151)|Lung NSC(278;0.185)		600					Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.1798G>A	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075254	0.94000	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.73962	2.25	0.80722	D	1	B	0.29212	0.237	B	0.35114	0.196	T	0.70461	-0.4865	9	0.35671	T	0.21	-25.451	17.1283	0.86720	0.0:1.0:0.0:0.0	.	600	Q8IV36	CQ028_HUMAN	K	372;600;372	.	ENSP00000317795:E372K	E	-	1	0	C17orf28	70461894	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.246000	0.78247	2.026000	0.59711	0.561000	0.74099	GAG		0.687	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		4	17	0	0	0	0	4	17				
RNF157	114804	broad.mit.edu	37	17	74151749	74151749	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74151749G>A	ENST00000269391.6	-	15	1724	c.1592C>T	c.(1591-1593)aCc>aTc	p.T531I	RNF157-AS1_ENST00000586661.1_RNA|RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000592748.1_RNA|RNF157-AS1_ENST00000586627.1_RNA|RNF157_ENST00000319945.6_Missense_Mutation_p.T531I	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	531	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGAGGAGACGGTGTCAGTGCT	0.622																																					GBM(186;507 2120 27388 27773 52994)	uc002jqz.2		NA																	0				ovary(1)	1						c.(1591-1593)ACC>ATC		ring finger protein 157							47.0	36.0	40.0					17																	74151749		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74151749G>A	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1592C>T	17.37:g.74151749G>A	ENSP00000269391:p.Thr531Ile					RNF157_uc002jra.2_Missense_Mutation_p.T531I|uc002jrb.1_RNA	p.T531I	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		15	1661	-			531			Ser-rich.		Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.1592C>T	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427243	0.83667	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.32753	1.44;1.64	5.43	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.996;0.997	T	0.55921	-0.8064	10	0.52906	T	0.07	-7.549	16.2196	0.82251	0.0:0.1332:0.8667:0.0	.	531;531	Q96PX1-2;Q96PX1	.;RN157_HUMAN	I	531	ENSP00000269391:T531I;ENSP00000321837:T531I	ENSP00000269391:T531I	T	-	2	0	RNF157	71663344	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	9.099000	0.94207	1.255000	0.44051	0.557000	0.71058	ACC		0.622	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		18	11	0	0	0	0	18	11				
QRICH2	84074	broad.mit.edu	37	17	74276160	74276160	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74276160C>T	ENST00000262765.5	-	12	4383	c.4204G>A	c.(4204-4206)Gag>Aag	p.E1402K		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1402										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGGGGGCGCTCCCTGAGCTGC	0.687																																						uc002jrd.1		NA																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(4204-4206)GAG>AAG		glutamine rich 2							32.0	38.0	36.0					17																	74276160		2197	4294	6491	SO:0001583	missense	84074						protein binding	g.chr17:74276160C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4204G>A	17.37:g.74276160C>T	ENSP00000262765:p.Glu1402Lys					QRICH2_uc010wsz.1_Intron|QRICH2_uc010dgw.1_Missense_Mutation_p.E246K	p.E1402K	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			12	4384	-			1402					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.4204G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420031	0.42918	.	.	ENSG00000129646	ENST00000262765	T	0.09073	3.02	5.59	5.59	0.84812	.	.	.	.	.	T	0.20981	0.0505	L	0.54908	1.71	0.30337	N	0.786076	D	0.63880	0.993	P	0.60789	0.879	T	0.02026	-1.1227	9	0.25106	T	0.35	-34.3983	15.5608	0.76244	0.0:0.8618:0.1382:0.0	.	1402	Q9H0J4	QRIC2_HUMAN	K	1402	ENSP00000262765:E1402K	ENSP00000262765:E1402K	E	-	1	0	QRICH2	71787755	0.717000	0.27966	0.895000	0.35142	0.012000	0.07955	1.374000	0.34283	2.635000	0.89317	0.655000	0.94253	GAG		0.687	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		11	61	0	0	0	0	11	61				
RHBDF2	79651	broad.mit.edu	37	17	74475253	74475253	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74475253C>T	ENST00000313080.4	-	5	739	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	RHBDF2_ENST00000591885.1_Missense_Mutation_p.A127T|RHBDF2_ENST00000389760.4_Missense_Mutation_p.A127T|RHBDF2_ENST00000592378.1_5'UTR	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	156					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGGCACGAGGCCTTCAGGCGG	0.677																																						uc002jrq.1		NA																	0					0						c.(466-468)GCC>ACC		rhomboid, veinlet-like 6 isoform 1							39.0	47.0	44.0					17																	74475253		2203	4299	6502	SO:0001583	missense	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74475253C>T	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.466G>A	17.37:g.74475253C>T	ENSP00000322775:p.Ala156Thr					RHBDF2_uc002jrp.1_Missense_Mutation_p.A127T|RHBDF2_uc002jrr.1_Missense_Mutation_p.A8T|RHBDF2_uc010wtf.1_Missense_Mutation_p.A127T|RHBDF2_uc002jrs.1_Missense_Mutation_p.A127T	p.A156T	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			5	759	-			156			Cytoplasmic (Potential).		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	c.466G>A	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259917	0.59321	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.65549	-0.16;-0.16	5.58	3.56	0.40772	.	0.242091	0.41194	D	0.000930	T	0.68329	0.2989	L	0.53249	1.67	0.29986	N	0.817306	D;B;B;B	0.62365	0.991;0.201;0.299;0.254	P;B;B;B	0.58660	0.843;0.14;0.256;0.166	T	0.67011	-0.5778	10	0.56958	D	0.05	-32.8165	10.3256	0.43792	0.2492:0.5109:0.2399:0.0	.	127;102;156;127	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	T	156;127;102	ENSP00000322775:A156T;ENSP00000374410:A127T	ENSP00000322775:A156T	A	-	1	0	RHBDF2	71986848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.251000	0.32862	0.693000	0.31634	0.563000	0.77884	GCC		0.677	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		14	42	0	0	0	0	14	42				
ST6GALNAC1	55808	broad.mit.edu	37	17	74621571	74621571	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74621571G>A	ENST00000156626.7	-	9	1843	c.1644C>T	c.(1642-1644)cgC>cgT	p.R548R	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	548					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GATCAGAAAAGCGCTCATGGC	0.488																																						uc002jsh.2		NA																	0					0						c.(1642-1644)CGC>CGT		sialyltransferase 7A							71.0	67.0	68.0					17																	74621571		2203	4300	6503	SO:0001819	synonymous_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74621571G>A	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1644C>T	17.37:g.74621571G>A						ST6GALNAC1_uc002jsi.2_Silent_p.R416R|ST6GALNAC1_uc002jsj.2_RNA	p.R548R	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN			9	1818	-			548			Lumenal (Potential).		Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	c.1644C>T	CCDS11748.1																																																																																				0.488	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		40	33	0	0	0	0	40	33				
MFSD11	79157	broad.mit.edu	37	17	74732409	74732409	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74732409C>A	ENST00000586622.1	+	0	302				SRSF2_ENST00000392485.2_Missense_Mutation_p.R167L|SRSF2_ENST00000359995.5_Missense_Mutation_p.R167L|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_De_novo_Start_InFrame|SRSF2_ENST00000508921.3_Missense_Mutation_p.R155L|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank			O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CTTGGACCTTCGTGCGGATCT	0.622																																						uc002jsv.2		NA																	0					0						c.(499-501)CGA>CTA		splicing factor, arginine/serine-rich 2							116.0	91.0	100.0					17																	74732409		2203	4300	6503			6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732409C>A	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000586622.1:c.-836C>A	17.37:g.74732409C>A						SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R167L|SFRS2_uc010wtg.1_Missense_Mutation_p.R155L|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	p.R167L	NM_003016	NP_003007	Q01130	SRSF2_HUMAN			2	670	-			167			Arg/Ser-rich (RS domain).		O43442|Q9NXI5	Missense_Mutation	SNP	ENST00000586622.1	37	c.500G>T	CCDS11750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.15|17.15	3.315241|3.315241	0.60524|0.60524	.|.	.|.	ENSG00000161547|ENSG00000161547	ENST00000452355|ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	.|T	.|0.11063	.|2.81	5.31|5.31	4.34|4.34	0.51931|0.51931	.|.	.|0.225109	.|0.23323	.|N	.|0.049421	.|T	.|0.11793	.|0.0287	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|B;B	.|0.33777	.|0.425;0.425	.|B;B	.|0.32393	.|0.145;0.145	.|T	.|0.07139	.|-1.0788	.|10	0.06625|0.30854	T|T	0.88|0.27	.|.	13.8534|13.8534	0.63510|0.63510	0.0:0.9259:0.0:0.0741|0.0:0.9259:0.0:0.0741	.|.	.|155;167	.|B4DN89;Q01130	.|.;SRSF2_HUMAN	X|L	117|167;194;155;147	.|ENSP00000376276:R167L	ENSP00000391278:E117X|ENSP00000350877:R155L	E|R	-|-	1|2	0|0	SRSF2|SRSF2	72244004|72244004	0.998000|0.998000	0.40836|0.40836	0.169000|0.169000	0.22859|0.22859	0.955000|0.955000	0.61496|0.61496	4.805000|4.805000	0.62561|0.62561	1.211000|1.211000	0.43351|0.43351	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.622	MFSD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451515.1	NM_024311		21	92	1	0	2.28e-05	2.32e-05	21	92				
DNAH17	8632	broad.mit.edu	37	17	76447632	76447632	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:76447632G>A	ENST00000585328.1	-	66	10762	c.10638C>T	c.(10636-10638)ttC>ttT	p.F3546F	DNAH17_ENST00000389840.5_Silent_p.F3537F|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3537	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGTGACCAGGAAGTTGATGA	0.557																																						uc010dhp.1		NA																	0				ovary(6)|breast(2)|skin(1)	9						c.(1651-1653)TTC>TTT		SubName: Full=DNAH17 variant protein; Flags: Fragment;							333.0	269.0	291.0					17																	76447632		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76447632G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10638C>T	17.37:g.76447632G>A						DNAH17_uc002jvq.2_5'Flank|DNAH17_uc002jvs.2_RNA	p.F551F					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		11	1875	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.1653C>T																																																																																					0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		58	143	0	0	0	0	58	143				
RNF213	57674	broad.mit.edu	37	17	78319833	78319833	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:78319833C>T	ENST00000582970.1	+	29	7841	c.7698C>T	c.(7696-7698)taC>taT	p.Y2566Y	RNF213_ENST00000336301.6_Silent_p.Y639Y|RNF213_ENST00000508628.2_Silent_p.Y2615Y	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2566					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCTGGTATACCGGGTCCATG	0.557																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(1915-1917)TAC>TAT		ring finger protein 213							52.0	48.0	49.0					17																	78319833		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78319833C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7698C>T	17.37:g.78319833C>T							p.Y639Y	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	2140	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.1917C>T	CCDS58606.1																																																																																				0.557	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		11	42	0	0	0	0	11	42				
RNF213	57674	broad.mit.edu	37	17	78332094	78332094	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:78332094C>T	ENST00000582970.1	+	37	11012	c.10869C>T	c.(10867-10869)acC>acT	p.T3623T	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.T1696T|RNF213_ENST00000508628.2_Silent_p.T3672T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3623					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGGCACACCCTCTGGAAGC	0.542																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(5086-5088)ACC>ACT		ring finger protein 213							58.0	51.0	54.0					17																	78332094		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78332094C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10869C>T	17.37:g.78332094C>T						uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.T78T	p.T1696T	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		12	5311	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.5088C>T	CCDS58606.1																																																																																				0.542	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		12	41	0	0	0	0	12	41				
SLC38A10	124565	broad.mit.edu	37	17	79234188	79234188	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79234188G>A	ENST00000374759.3	-	11	1521	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Silent_p.L380L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	380					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGACCCACAGCACCACCTGA	0.677																																						uc002jzz.1		NA																	0				pancreas(1)|skin(1)	2						c.(1138-1140)CTG>TTG		solute carrier family 38, member 10 isoform a							24.0	27.0	26.0					17																	79234188		2195	4296	6491	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79234188G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1138C>T	17.37:g.79234188G>A						SLC38A10_uc002jzy.1_Silent_p.L298L|SLC38A10_uc002kab.2_Silent_p.L380L	p.L380L	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		11	1513	-	all_neural(118;0.0804)|Melanoma(429;0.242)		380			Helical; (Potential).		Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.1138C>T	CCDS42397.1																																																																																				0.677	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		6	13	0	0	0	0	6	13				
ACTG1	71	broad.mit.edu	37	17	79477846	79477847	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79477846_79477847GG>AA	ENST00000575842.1	-	5	1423_1424	c.997_998CC>TT	c.(997-999)CCa>TTa	p.P333L	ACTG1_ENST00000331925.2_Missense_Mutation_p.P333L|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.P333L|ACTG1_ENST00000573283.1_Missense_Mutation_p.P333L			P63261	ACTG_HUMAN	actin, gamma 1	333					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTTGCGCTCTGGGGGTGCGATG	0.629																																						uc002kaj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(997-999)CCA>TTA		actin, gamma 1 propeptide																																				SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79477846_79477847GG>AA		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.997_998delinsAA	17.37:g.79477846_79477847delinsAA	ENSP00000458162:p.Pro333Leu					ACTG1_uc002kah.1_Missense_Mutation_p.P211L|ACTG1_uc002kai.1_Missense_Mutation_p.P290L|ACTG1_uc002kak.1_Missense_Mutation_p.P333L|ACTG1_uc010wun.1_Missense_Mutation_p.P333L|ACTG1_uc002kal.1_Missense_Mutation_p.P333L|ACTG1_uc002kag.2_RNA	p.P333L	NM_001614	NP_001605	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		5	1022_1023	-	all_neural(118;0.0878)|Melanoma(429;0.242)		333					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	DNP	ENST00000575842.1	37	c.997_998CC>TT	CCDS11782.1																																																																																				0.629	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		47	49	0	0	0	0	47	49				
NPLOC4	55666	broad.mit.edu	37	17	79536083	79536083	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79536083G>A	ENST00000331134.6	-	14	1623	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	NPLOC4_ENST00000539314.1_Missense_Mutation_p.P309S|NPLOC4_ENST00000572760.1_5'Flank|NPLOC4_ENST00000374747.5_Missense_Mutation_p.P470S|NPLOC4_ENST00000573876.1_5'Flank	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	470					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATAGGAAATGGATTTTGCGAA	0.368																																						uc002kat.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1408-1410)CCA>TCA		nuclear protein localization 4							99.0	98.0	98.0					17																	79536083		1865	4106	5971	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79536083G>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1408C>T	17.37:g.79536083G>A	ENSP00000331487:p.Pro470Ser					NPLOC4_uc002kau.3_Missense_Mutation_p.P470S|NPLOC4_uc010wur.1_Missense_Mutation_p.P309S|NPLOC4_uc010dic.2_5'Flank|NPLOC4_uc002kas.2_5'UTR	p.P470S	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		14	1590	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		470					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1408C>T	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442416	0.63067	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.63	5.63	0.86233	Nuclear pore localisation protein NPL4 (1);	0.190713	0.37095	N	0.002254	T	0.35770	0.0943	L	0.39898	1.24	0.43480	D	0.995704	B;P;B	0.44195	0.014;0.828;0.174	B;B;B	0.36845	0.009;0.234;0.086	T	0.36720	-0.9736	9	0.02654	T	1	-15.13	11.8805	0.52574	0.0809:0.0:0.9191:0.0	.	309;470;470	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	S	470;469;309	.	ENSP00000331487:P470S	P	-	1	0	NPLOC4	77146520	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.455000	0.80726	2.665000	0.90641	0.563000	0.77884	CCA		0.368	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			16	79	0	0	0	0	16	79				
TSPAN10	83882	broad.mit.edu	37	17	79612449	79612449	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79612449C>T	ENST00000572675.1	+	0	468				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTCTGGGGGCATCCTTGCCT	0.687																																						uc010die.2		NA																	0				ovary(1)	1						c.(466-468)GGC>GGT		tetraspanin 10							29.0	37.0	34.0					17																	79612449		2062	4184	6246			83882					integral to membrane		g.chr17:79612449C>T	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612449C>T						TSPAN10_uc002kaw.1_Silent_p.G156G|TSPAN10_uc010did.1_RNA	p.G156G	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	558	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		156			Helical; (Potential).		Q8N548	Silent	SNP	ENST00000572675.1	37	c.468C>T																																																																																					0.687	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		12	7	0	0	0	0	12	7				
PYCR1	5831	broad.mit.edu	37	17	79892293	79892293	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79892293C>T	ENST00000329875.8	-	6	770	c.706G>A	c.(706-708)Ggg>Agg	p.G236R	RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000337943.5_Missense_Mutation_p.G236R|PYCR1_ENST00000403172.4_Missense_Mutation_p.G205R|PYCR1_ENST00000402252.2_Missense_Mutation_p.G263R|PYCR1_ENST00000577756.1_Intron	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	236					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	ATGGTGGCCCCACCAGGAGAG	0.642																																						uc002kcr.1		NA																	0					0						c.(706-708)GGG>AGG		pyrroline-5-carboxylate reductase 1 isoform 1	L-Proline(DB00172)|NADH(DB00157)						55.0	42.0	47.0					17																	79892293		2202	4298	6500	SO:0001583	missense	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79892293C>T		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.706G>A	17.37:g.79892293C>T	ENSP00000328858:p.Gly236Arg					PYCR1_uc002kcq.1_Intron|PYCR1_uc002kcp.2_Missense_Mutation_p.G236R|PYCR1_uc002kcs.1_Intron|PYCR1_uc010wvd.1_Missense_Mutation_p.G263R|PYCR1_uc002kct.1_Missense_Mutation_p.G236R|PYCR1_uc002kcu.1_Missense_Mutation_p.G205R|PYCR1_uc010wve.1_Missense_Mutation_p.G157R	p.G236R	NM_006907	NP_008838	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		6	984	-	all_neural(118;0.0878)|Ovarian(332;0.12)		236					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	c.706G>A	CCDS11795.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.422376|4.422376	0.83559|0.83559	.|.	.|.	ENSG00000183010|ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000402252;ENST00000405481|ENST00000403172	D;D;D;D|.	0.98044|.	-4.68;-4.68;-4.68;-2.44|.	3.47|3.47	3.47|3.47	0.39725|0.39725	6-phosphogluconate dehydrogenase, C-terminal-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.90487|.	0.7020|.	H|H	0.99117|0.99117	4.435|4.435	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.995;0.999;0.999;0.999;0.999|.	D|.	0.94576|.	0.7775|.	10|.	0.87932|0.87932	D|D	0|0	.|.	15.159|15.159	0.72767|0.72767	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	177;263;236;236;236|.	B7Z8T1;B4DMU0;E7D7X9;P32322;A6NFM2|.	.;.;.;P5CR1_HUMAN;.|.	R|X	236;236;263;177|236	ENSP00000336579:G236R;ENSP00000328858:G236R;ENSP00000384949:G263R;ENSP00000386002:G177R|.	ENSP00000328858:G236R|ENSP00000385483:W236X	G|W	-|-	1|2	0|0	PYCR1|PYCR1	77485584|77485584	1.000000|1.000000	0.71417|0.71417	0.858000|0.858000	0.33744|0.33744	0.941000|0.941000	0.58515|0.58515	7.489000|7.489000	0.81451|0.81451	1.780000|1.780000	0.52325|0.52325	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.642	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1			8	32	0	0	0	0	8	32				
RAC3	5881	broad.mit.edu	37	17	79990328	79990328	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79990328C>T	ENST00000306897.4	+	2	239	c.101C>T	c.(100-102)cCc>cTc	p.P34L		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	34					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GAGTACATCCCCACCGTGTGA	0.677																																						uc002kdf.2		NA																	0					0						c.(100-102)CCC>CTC		ras-related C3 botulinum toxin substrate 3 (rho							67.0	61.0	63.0					17																	79990328		2203	4300	6503	SO:0001583	missense	5881				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79990328C>T	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.101C>T	17.37:g.79990328C>T	ENSP00000304283:p.Pro34Leu						p.P34L	NM_005052	NP_005043	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		2	207	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		34			Effector region (Potential).		O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	37	c.101C>T	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854705	0.91355	.	.	ENSG00000169750	ENST00000306897	T	0.73469	-0.75	3.65	3.65	0.41850	Small GTP-binding protein domain (1);	0.065166	0.64402	D	0.000006	D	0.89476	0.6726	H	0.95365	3.66	0.80722	D	1	D	0.52996	0.957	D	0.67900	0.954	D	0.93038	0.6454	9	.	.	.	.	15.5151	0.75818	0.0:1.0:0.0:0.0	.	34	P60763	RAC3_HUMAN	L	34	ENSP00000304283:P34L	.	P	+	2	0	RAC3	77583617	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.312000	0.65792	1.841000	0.53522	0.561000	0.74099	CCC		0.677	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			24	31	0	0	0	0	24	31				
DUS1L	64118	broad.mit.edu	37	17	80019150	80019150	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80019150G>A	ENST00000354321.7	-	7	1262	c.777C>T	c.(775-777)atC>atT	p.I259I	DUS1L_ENST00000306796.5_Silent_p.I259I			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	259							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCTCCCGCACGATGTCCAGAT	0.672																																						uc002kdq.2		NA																	0				skin(1)	1						c.(775-777)ATC>ATT		PP3111 protein							35.0	33.0	34.0					17																	80019150		2199	4297	6496	SO:0001819	synonymous_variant	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80019150G>A		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.777C>T	17.37:g.80019150G>A						DUS1L_uc002kdp.2_Silent_p.I128I|DUS1L_uc002kdr.2_Silent_p.I259I|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Silent_p.I242I	p.I259I	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		7	1196	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		259					A6NHV4|Q96AI3	Silent	SNP	ENST00000354321.7	37	c.777C>T	CCDS32775.1																																																																																				0.672	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		8	23	0	0	0	0	8	23				
FASN	2194	broad.mit.edu	37	17	80046905	80046905	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80046905G>A	ENST00000306749.2	-	14	2462	c.2244C>T	c.(2242-2244)gcC>gcT	p.A748A		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	748	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CGTGCCACAGGGCCTCCTGGA	0.697																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2		NA																	0				central_nervous_system(1)	1						c.(2242-2244)GCC>GCT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						70.0	52.0	58.0					17																	80046905		2188	4292	6480	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80046905G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2244C>T	17.37:g.80046905G>A						FASN_uc002kdw.1_5'Flank	p.A748A	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		14	2361	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		748			Acyl and malonyl transferases (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.2244C>T	CCDS11801.1																																																																																				0.697	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		9	9	0	0	0	0	9	9				
FASN	2194	broad.mit.edu	37	17	80049491	80049491	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80049491G>A	ENST00000306749.2	-	9	1317	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	367	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AACAGCGCTGGGATCTCAGGG	0.682																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2		NA																	0				central_nervous_system(1)	1						c.(1099-1101)CCA>TCA		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						15.0	15.0	15.0					17																	80049491		2177	4281	6458	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80049491G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1099C>T	17.37:g.80049491G>A	ENSP00000304592:p.Pro367Ser					FASN_uc002kdw.1_5'Flank	p.P367S	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		9	1216	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		367			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.1099C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544011	0.45280	.	.	ENSG00000169710	ENST00000306749	T	0.28666	1.6	5.11	4.13	0.48395	Thiolase-like, subgroup (1);Thiolase-like (1);	0.185437	0.47455	D	0.000224	T	0.46541	0.1398	M	0.81682	2.555	0.58432	D	0.999998	D	0.54207	0.965	P	0.50378	0.639	T	0.52366	-0.8585	10	0.42905	T	0.14	-7.4816	14.8599	0.70372	0.0:0.0:0.8549:0.1451	.	367	P49327	FAS_HUMAN	S	367	ENSP00000304592:P367S	ENSP00000304592:P367S	P	-	1	0	FASN	77642780	1.000000	0.71417	0.024000	0.17045	0.101000	0.19017	4.642000	0.61383	1.122000	0.41944	0.491000	0.48974	CCA		0.682	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		3	13	0	0	0	0	3	13				
RAB40B	10966	broad.mit.edu	37	17	80622390	80622390	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80622390C>T	ENST00000571995.1	-	2	316	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Missense_Mutation_p.R62Q	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	62					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGCTTCACCCGCCGCCCGTC	0.642																																						uc002kft.2		NA																	0				central_nervous_system(1)	1						c.(184-186)CGG>CAG		RAB40B, member RAS oncogene family							108.0	98.0	101.0					17																	80622390		2203	4300	6503	SO:0001583	missense	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80622390C>T	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.185G>A	17.37:g.80622390C>T	ENSP00000461785:p.Arg62Gln					RAB40B_uc002kfs.2_RNA	p.R62Q	NM_006822	NP_006813	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		2	311	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	62					Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	37	c.185G>A	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871265	0.91587	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	3.97	2.99	0.34606	Small GTP-binding protein domain (1);	0.000000	0.51477	U	0.000098	T	0.63546	0.2520	L	0.33710	1.025	0.49213	D	0.999767	D	0.89917	1.0	D	0.74674	0.984	T	0.65849	-0.6068	9	0.72032	D	0.01	.	11.9244	0.52810	0.0:0.9103:0.0:0.0897	.	62	Q12829	RB40B_HUMAN	Q	62;96	.	ENSP00000269347:R62Q	R	-	2	0	RAB40B	78215679	0.675000	0.27558	0.985000	0.45067	0.985000	0.73830	5.363000	0.66104	0.974000	0.38366	0.555000	0.69702	CGG		0.642	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			31	111	0	0	0	0	31	111				
FN3K	64122	broad.mit.edu	37	17	80708411	80708411	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80708411C>T	ENST00000300784.7	+	6	772	c.710C>T	c.(709-711)tCc>tTc	p.S237F	TBCD_ENST00000539345.2_5'Flank|TBCD_ENST00000355528.4_5'Flank|TBCD_ENST00000397466.2_5'Flank	NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	237					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GACCCGGCTTCCTTCTATGGC	0.572																																					Melanoma(10;391 597 14592 32548 32749)	uc010wvs.1		NA																	0					0						c.(709-711)TCC>TTC		fructosamine 3 kinase							161.0	157.0	159.0					17																	80708411		2203	4300	6503	SO:0001583	missense	64122				fructoselysine metabolic process		fructosamine-3-kinase activity	g.chr17:80708411C>T	AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.710C>T	17.37:g.80708411C>T	ENSP00000300784:p.Ser237Phe					TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	p.S237F	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	771	+	Breast(20;0.000523)|all_neural(118;0.0952)		237						Missense_Mutation	SNP	ENST00000300784.7	37	c.710C>T	CCDS11818.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355773	0.82243	.	.	ENSG00000167363	ENST00000300784	T	0.54279	0.58	4.47	3.46	0.39613	Protein kinase-like domain (1);	0.110783	0.64402	D	0.000005	T	0.73032	0.3535	M	0.85462	2.755	0.80722	D	1	D	0.65815	0.995	D	0.71184	0.972	T	0.76958	-0.2766	9	.	.	.	-17.4841	13.6491	0.62299	0.0:0.7056:0.2944:0.0	.	237	Q9H479	FN3K_HUMAN	F	237	ENSP00000300784:S237F	.	S	+	2	0	FN3K	78301700	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	3.817000	0.55668	0.963000	0.38082	0.585000	0.79938	TCC		0.572	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1	NM_022158		39	201	0	0	0	0	39	201				
MYOM1	8736	broad.mit.edu	37	18	3187612	3187612	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:3187612A>C	ENST00000356443.4	-	5	1128	c.795T>G	c.(793-795)caT>caG	p.H265Q	MYOM1_ENST00000400569.3_Missense_Mutation_p.H265Q|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.H265Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	265					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						TCAGCTTGGCATGATATGTCT	0.358																																						uc002klp.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(793-795)CAT>CAG		myomesin 1 isoform a							112.0	102.0	105.0					18																	3187612		1933	4127	6060	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3187612A>C	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.795T>G	18.37:g.3187612A>C	ENSP00000348821:p.His265Gln					MYOM1_uc002klq.2_Missense_Mutation_p.H265Q	p.H265Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN			5	1129	-			265					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.795T>G	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.372796	0.24857	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.47177	0.98;0.99;0.85	5.4	0.373	0.16178	.	0.237561	0.43579	D	0.000549	T	0.22627	0.0546	N	0.20986	0.625	0.32249	N	0.57174	B;B	0.33103	0.12;0.397	B;B	0.28709	0.069;0.093	T	0.29761	-1.0001	10	0.10636	T	0.68	.	5.4416	0.16511	0.5191:0.0:0.3523:0.1286	.	265;265	P52179-2;P52179	.;MYOM1_HUMAN	Q	265	ENSP00000348821:H265Q;ENSP00000383413:H265Q;ENSP00000261606:H265Q	ENSP00000261606:H265Q	H	-	3	2	MYOM1	3177612	0.994000	0.37717	0.301000	0.25044	0.710000	0.40934	0.350000	0.20079	0.111000	0.17947	0.455000	0.32223	CAT		0.358	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		13	48	0	0	0	0	13	48				
DLGAP1	9229	broad.mit.edu	37	18	3534553	3534553	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:3534553G>A	ENST00000315677.3	-	10	2713	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	DLGAP1_ENST00000534970.1_Silent_p.F390F|DLGAP1_ENST00000400155.1_Silent_p.F412F|DLGAP1_ENST00000584874.1_Silent_p.F706F|DLGAP1_ENST00000581699.1_Silent_p.F412F|DLGAP1_ENST00000581527.1_Silent_p.F706F|DLGAP1_ENST00000400147.2_Silent_p.F404F|DLGAP1_ENST00000400149.3_Silent_p.F396F|DLGAP1_ENST00000400150.3_Silent_p.F422F|DLGAP1_ENST00000539435.1_Silent_p.F414F|DLGAP1_ENST00000400145.2_Silent_p.F404F|DLGAP1_ENST00000515196.2_Silent_p.F706F	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	706					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GATTATCATGGAAGTCCAGGT	0.483																																						uc002kmf.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2116-2118)TTC>TTT		discs large homolog-associated protein 1 isoform							50.0	50.0	50.0					18																	3534553		2203	4300	6503	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3534553G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2118C>T	18.37:g.3534553G>A						DLGAP1_uc010wyz.1_Silent_p.F706F|DLGAP1_uc002kme.1_Silent_p.F404F|DLGAP1_uc010dkn.2_Silent_p.F414F|DLGAP1_uc010wyw.1_Silent_p.F412F|DLGAP1_uc010wyx.1_Silent_p.F428F|DLGAP1_uc010wyy.1_Silent_p.F390F|DLGAP1_uc002kmg.2_Silent_p.F404F	p.F706F	NM_004746	NP_004737	O14490	DLGP1_HUMAN			7	2185	-		Colorectal(8;0.0257)	706					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.2118C>T	CCDS11836.1																																																																																				0.483	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			11	34	0	0	0	0	11	34				
L3MBTL4	91133	broad.mit.edu	37	18	6239847	6239847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:6239847G>A	ENST00000284898.6	-	9	777	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000400104.3_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000535782.1_Nonsense_Mutation_p.Q6*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.Q193*	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	193					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ATTCCAACCTGAAATTCTTTA	0.468																																					Esophageal Squamous(41;748 902 17366 28959 43175)	uc002kmz.3		NA																	0				skin(2)|pancreas(1)	3						c.(577-579)CAG>TAG		l(3)mbt-like 4							91.0	77.0	82.0					18																	6239847		2203	4300	6503	SO:0001587	stop_gained	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6239847G>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.577C>T	18.37:g.6239847G>A	ENSP00000284898:p.Gln193*					L3MBTL4_uc010dkt.2_Nonsense_Mutation_p.Q193*|L3MBTL4_uc002kmy.3_Nonsense_Mutation_p.Q31*	p.Q193*	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN			9	737	-		Colorectal(10;0.0249)	193			MBT 2.		A8MTL8|Q8IXS3	Nonsense_Mutation	SNP	ENST00000284898.6	37	c.577C>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	36	5.817321	0.96982	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	.	.	.	5.31	2.44	0.29823	.	0.190871	0.34750	N	0.003719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.5729	0.68224	0.0:0.4209:0.5791:0.0	.	.	.	.	X	193;193;193;6;193	.	ENSP00000284898:Q193X	Q	-	1	0	L3MBTL4	6229847	0.611000	0.26992	0.497000	0.27552	0.989000	0.77384	1.704000	0.37857	0.215000	0.20761	0.586000	0.80456	CAG		0.468	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		8	46	0	0	0	0	8	46				
PTPRM	5797	broad.mit.edu	37	18	8376134	8376135	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:8376134_8376135GG>AA	ENST00000332175.8	+	23	4260_4261	c.3223_3224GG>AA	c.(3223-3225)GGa>AAa	p.G1075K	PTPRM_ENST00000444013.1_Missense_Mutation_p.G862K|PTPRM_ENST00000400060.4_Missense_Mutation_p.G1089K|PTPRM_ENST00000580170.1_Missense_Mutation_p.G1088K|PTPRM_ENST00000400053.4_Missense_Mutation_p.G1013K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1075	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CGGCCTGCTGGGATTCGTGCGG	0.589																																						uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3223-3225)GGA>AAA		protein tyrosine phosphatase, receptor type, M																																				SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8376134_8376135GG>AA	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	Exception_encountered	18.37:g.8376134_8376135delinsAA	ENSP00000331418:p.Gly1075Lys					PTPRM_uc010dkv.2_Missense_Mutation_p.G1088K|PTPRM_uc010wzl.1_Missense_Mutation_p.G862K	p.G1075K	NM_002845	NP_002836	P28827	PTPRM_HUMAN			23	3726_3727	+		Colorectal(10;0.234)	1075			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	DNP	ENST00000332175.8	37	c.3223_3224GG>AA	CCDS11840.1																																																																																				0.589	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			9	54	0	0	0	0	9	54				
ANKRD12	23253	broad.mit.edu	37	18	9211708	9211708	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9211708C>T	ENST00000262126.4	+	6	818	c.578C>T	c.(577-579)gCt>gTt	p.A193V	ANKRD12_ENST00000383440.2_Missense_Mutation_p.A170V|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Missense_Mutation_p.A170V	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	193						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CACATGGCTGCTATTCGAGGA	0.363																																						uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(577-579)GCT>GTT		ankyrin repeat domain 12 isoform 1							94.0	92.0	93.0					18																	9211708		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9211708C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.578C>T	18.37:g.9211708C>T	ENSP00000262126:p.Ala193Val					ANKRD12_uc010wzn.1_Missense_Mutation_p.A193V|ANKRD12_uc002knw.2_Missense_Mutation_p.A170V|ANKRD12_uc002knx.2_Missense_Mutation_p.A170V	p.A193V	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			6	835	+			193			ANK 1.		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.578C>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518249	0.64634	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000540578	T;T	0.70516	-0.49;-0.49	5.97	5.97	0.96955	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	N	0.26042	0.785	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	T	0.79878	-0.1617	10	0.87932	D	0	-26.2272	20.4388	0.99107	0.0:1.0:0.0:0.0	.	193;170;193	Q6PG48;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	V	170;170;193;193	ENSP00000372932:A170V;ENSP00000262126:A193V	ENSP00000262126:A193V	A	+	2	0	ANKRD12	9201708	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.487000	0.81328	2.836000	0.97738	0.655000	0.94253	GCT		0.363	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		10	43	0	0	0	0	10	43				
ANKRD12	23253	broad.mit.edu	37	18	9258557	9258557	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9258557C>T	ENST00000262126.4	+	9	5532	c.5292C>T	c.(5290-5292)tcC>tcT	p.S1764S	RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Silent_p.S1741S|ANKRD12_ENST00000400020.3_Silent_p.S1741S	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1764						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACAGTGAATCCTCATCTCCTA	0.398																																						uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(5290-5292)TCC>TCT		ankyrin repeat domain 12 isoform 1							90.0	84.0	86.0					18																	9258557		2203	4300	6503	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9258557C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5292C>T	18.37:g.9258557C>T						ANKRD12_uc002knw.2_Silent_p.S1741S|ANKRD12_uc002knx.2_Silent_p.S1741S|ANKRD12_uc010dkx.1_Silent_p.S1471S	p.S1764S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	5549	+			1764					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.5292C>T	CCDS11843.1																																																																																				0.398	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		8	27	0	0	0	0	8	27				
PPP4R1	9989	broad.mit.edu	37	18	9570373	9570373	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9570373A>T	ENST00000400556.3	-	11	1428	c.1355T>A	c.(1354-1356)tTg>tAg	p.L452*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.L435*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	452					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						GGAGTTATACAATTCCTGATC	0.433																																					Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1		NA																	0				skin(1)	1						c.(1354-1356)TTG>TAG		protein phosphatase 4, regulatory subunit 1							92.0	87.0	89.0					18																	9570373		1841	4083	5924	SO:0001587	stop_gained	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9570373A>T	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1355T>A	18.37:g.9570373A>T	ENSP00000383402:p.Leu452*					PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.L298*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.L435*|PPP4R1_uc010wzp.1_RNA	p.L452*	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN			11	1473	-			452					Q99774|Q9UNQ7	Nonsense_Mutation	SNP	ENST00000400556.3	37	c.1355T>A	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	A	40	8.005770	0.98605	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	.	.	.	5.32	5.32	0.75619	.	0.106801	0.41001	D	0.000974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.2467	15.5594	0.76229	1.0:0.0:0.0:0.0	.	.	.	.	X	452;435;363	.	.	L	-	2	0	PPP4R1	9560373	0.853000	0.29707	0.996000	0.52242	0.989000	0.77384	4.230000	0.58632	2.124000	0.65301	0.482000	0.46254	TTG		0.433	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		21	80	0	0	0	0	21	80				
TXNDC2	84203	broad.mit.edu	37	18	9887690	9887690	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9887690C>T	ENST00000306084.6	+	2	1413	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.P338L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	405	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						ATTGACATCCCCAAGTCCCCA	0.547																																						uc002koi.3		NA																	0				ovary(1)|pancreas(1)	2						c.(1213-1215)CCC>CTC		thioredoxin domain-containing 2 isoform 2							110.0	99.0	103.0					18																	9887690		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887690C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1214C>T	18.37:g.9887690C>T	ENSP00000304908:p.Pro405Leu					TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.P338L	p.P405L	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	1663	+			405			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|20.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.1214C>T	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489621	0.44249	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.05513	3.5;3.43	3.98	0.56	0.17279	.	1.842080	0.03418	N	0.205909	T	0.09555	0.0235	N	0.10916	0.065	0.09310	N	1	D	0.76494	0.999	D	0.70935	0.971	T	0.29822	-0.9999	9	.	.	.	-4.4688	4.2417	0.10650	0.1719:0.567:0.0:0.2611	.	405	Q86VQ3	TXND2_HUMAN	L	203;338;405;390	ENSP00000350419:P338L;ENSP00000304908:P405L	.	P	+	2	0	TXNDC2	9877690	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.681000	0.05191	0.081000	0.16988	0.603000	0.83216	CCC		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			11	75	0	0	0	0	11	75				
MC2R	4158	broad.mit.edu	37	18	13884843	13884843	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:13884843G>A	ENST00000327606.3	-	2	855	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	225					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGAAGACCCCGAGCAGGATGG	0.552																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5						c.(673-675)CTC>CTT		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						78.0	68.0	71.0					18																	13884843		2203	4300	6503	SO:0001819	synonymous_variant	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884843G>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.675C>T	18.37:g.13884843G>A							p.L225L	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	852	-			225			Helical; Name=6; (By similarity).		A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.675C>T	CCDS11869.1																																																																																				0.552	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			20	33	0	0	0	0	20	33				
CTAGE1	64693	broad.mit.edu	37	18	19995654	19995654	+	5'Flank	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:19995654C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.R707R			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTGGGACATCCCTTGGAGAAA	0.507																																						uc002ktv.1		NA																	0				ovary(1)	1						c.(2119-2121)AGG>AGA		cutaneous T-cell lymphoma-associated antigen 1							53.0	59.0	57.0					18																	19995654		2120	4238	6358	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995654C>T	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995654C>T	Exception_encountered						p.R707R	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	2225	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		707			Pro-rich.		B0YIZ3	Silent	SNP	ENST00000525417.1	37	c.2121G>A																																																																																					0.507	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		18	74	0	0	0	0	18	74				
TMEM241	85019	broad.mit.edu	37	18	21001409	21001409	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:21001409C>T	ENST00000383233.3	-	3	172		c.e3-1		TMEM241_ENST00000542162.1_Splice_Site|TMEM241_ENST00000399707.1_Intron|TMEM241_ENST00000450466.2_Splice_Site	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241							integral component of membrane (GO:0016021)											CGTCTGCCACCTGGAAAGGAC	0.493																																						uc002kuf.2		NA																	0					0						c.e3-1		hypothetical protein LOC85019							96.0	73.0	81.0					18																	21001409		2203	4300	6503	SO:0001630	splice_region_variant	85019					integral to membrane		g.chr18:21001409C>T	BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"""chromosome 18 open reading frame 45"""	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.120-1G>A	18.37:g.21001409C>T						C18orf45_uc010xaq.1_Splice_Site|C18orf45_uc010xar.1_Splice_Site|C18orf45_uc002kug.2_Splice_Site|C18orf45_uc002kuh.2_Intron	p.G40_splice	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN			3	229	-	all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127)							I0J130|Q6ZTS7|Q6ZW41	Splice_Site	SNP	ENST00000383233.3	37	c.120_splice	CCDS11876.2	.	.	.	.	.	.	.	.	.	.	c	20.7	4.029284	0.75504	.	.	ENSG00000134490	ENST00000383233;ENST00000542162;ENST00000497608	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.551	0.91065	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C18orf45	19255407	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	5.497000	0.66924	2.674000	0.91012	0.639000	0.83563	.		0.493	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933	Intron	8	31	0	0	0	0	8	31				
LAMA3	3909	broad.mit.edu	37	18	21395193	21395193	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:21395193G>A	ENST00000313654.9	+	16	2171	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E644K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	644	Domain V.|Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGGAACTGGAGAGTGTAGGCA	0.493																																						uc002kuq.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1930-1932)GAG>AAG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						138.0	136.0	136.0					18																	21395193		2000	4192	6192	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21395193G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1930G>A	18.37:g.21395193G>A	ENSP00000324532:p.Glu644Lys					LAMA3_uc002kur.2_Missense_Mutation_p.E644K	p.E644K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			16	2016	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		644			Domain V.|Laminin EGF-like 7.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1930G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716097	0.89205	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.61274	0.12;0.12	5.09	5.09	0.68999	EGF-like, laminin (3);	.	.	.	.	T	0.68604	0.3019	M	0.81112	2.525	0.80722	D	1	D;P	0.61697	0.99;0.913	P;P	0.59288	0.855;0.784	T	0.66575	-0.5889	9	0.09590	T	0.72	.	11.9289	0.52835	0.0803:0.0:0.9197:0.0	.	644;644	Q6VU67;Q16787	.;LAMA3_HUMAN	K	644;644;642	ENSP00000324532:E644K;ENSP00000382432:E644K	ENSP00000324532:E644K	E	+	1	0	LAMA3	19649191	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.890000	0.75633	2.537000	0.85549	0.655000	0.94253	GAG		0.493	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		5	13	0	0	0	0	5	13				
CDH2	1000	broad.mit.edu	37	18	25570168	25570168	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:25570168A>G	ENST00000269141.3	-	10	1914	c.1491T>C	c.(1489-1491)ttT>ttC	p.F497F	CDH2_ENST00000399380.3_Silent_p.F466F	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	497	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATTGGGGGCAAAATAAGGGT	0.458																																						uc002kwg.2		NA																	0				ovary(3)|lung(1)	4						c.(1489-1491)TTT>TTC		cadherin 2, type 1 preproprotein							140.0	129.0	133.0					18																	25570168		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25570168A>G	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1491T>C	18.37:g.25570168A>G						CDH2_uc010xbn.1_Silent_p.F466F	p.F497F	NM_001792	NP_001783	P19022	CADH2_HUMAN			10	1950	-			497			Extracellular (Potential).|Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.1491T>C	CCDS11891.1																																																																																				0.458	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		18	59	0	0	0	0	18	59				
RNF138	51444	broad.mit.edu	37	18	29706662	29706662	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:29706662C>T	ENST00000261593.3	+	7	1026	c.568C>T	c.(568-570)Cct>Tct	p.P190S	RP11-53I6.4_ENST00000583138.1_RNA|RNF138_ENST00000257190.5_Missense_Mutation_p.P96S	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	190					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						ATAGACATGTCCTATTTGTGT	0.299																																						uc002kxg.2		NA																	0					0						c.(568-570)CCT>TCT		ring finger protein 138 isoform 1							70.0	68.0	69.0					18																	29706662		2203	4298	6501	SO:0001583	missense	51444				Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	g.chr18:29706662C>T	AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"""RING-type (C3HC4) zinc fingers"""	17765	protein-coding gene	gene with protein product	"""nemo-like kinase associated ring finger protein"""		"""ring finger protein 138"""			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.568C>T	18.37:g.29706662C>T	ENSP00000261593:p.Pro190Ser					RNF138_uc002kxh.2_Missense_Mutation_p.P96S	p.P190S	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN			7	1007	+			190					B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	c.568C>T	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179537	0.78564	.	.	ENSG00000134758	ENST00000261593;ENST00000257190	D	0.98437	-4.93	4.84	4.84	0.62591	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.99843	1.1063	10	0.87932	D	0	-5.4305	18.3324	0.90274	0.0:1.0:0.0:0.0	.	96;190	Q8WVD3-2;Q8WVD3	.;RN138_HUMAN	S	190;96	ENSP00000261593:P190S	ENSP00000257190:P96S	P	+	1	0	RNF138	27960660	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.898000	0.63238	2.392000	0.81423	0.561000	0.74099	CCT		0.299	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271		15	50	0	0	0	0	15	50				
ASXL3	80816	broad.mit.edu	37	18	31319226	31319226	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:31319226G>A	ENST00000269197.5	+	11	1858	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	620	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGCCCAGAGGGAGCCTGTAC	0.483																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1858-1860)GGA>AGA		additional sex combs like 3							48.0	49.0	49.0					18																	31319226		1891	4102	5993	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319226G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1858G>A	18.37:g.31319226G>A	ENSP00000269197:p.Gly620Arg					ASXL3_uc002kxq.2_Missense_Mutation_p.G327R	p.G620R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	1913	+			620			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.1858G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066736	0.76301	.	.	ENSG00000141431	ENST00000269197	T	0.15487	2.42	5.46	5.46	0.80206	.	0.393107	0.26780	N	0.022523	T	0.31389	0.0795	L	0.54323	1.7	0.34437	D	0.699151	D	0.59767	0.986	P	0.54060	0.741	T	0.15464	-1.0436	10	0.34782	T	0.22	.	19.2713	0.94011	0.0:0.0:1.0:0.0	.	620	Q9C0F0	ASXL3_HUMAN	R	620	ENSP00000269197:G620R	ENSP00000269197:G620R	G	+	1	0	ASXL3	29573224	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.799000	0.62517	2.725000	0.93324	0.460000	0.39030	GGA		0.483	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			6	13	0	0	0	0	6	13				
NOL4	8715	broad.mit.edu	37	18	31432930	31432930	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:31432930C>T	ENST00000261592.5	-	11	2090	c.1793G>A	c.(1792-1794)aGa>aAa	p.R598K	NOL4_ENST00000269185.4_Missense_Mutation_p.R382K|NOL4_ENST00000589544.1_Missense_Mutation_p.R496K|NOL4_ENST00000535384.1_Missense_Mutation_p.R313K|NOL4_ENST00000535475.1_Missense_Mutation_p.R379K|NOL4_ENST00000538587.1_Missense_Mutation_p.R524K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	598						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CAGCTGGGGTCTGGAGTTTGA	0.453																																						uc010dmi.2		NA																	0				ovary(3)	3						c.(1792-1794)AGA>AAA		nucleolar protein 4							103.0	92.0	96.0					18																	31432930		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31432930C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1793G>A	18.37:g.31432930C>T	ENSP00000261592:p.Arg598Lys					NOL4_uc010xbs.1_Missense_Mutation_p.R313K|NOL4_uc002kxr.3_Missense_Mutation_p.R370K|NOL4_uc010xbt.1_Missense_Mutation_p.R524K|NOL4_uc010dmh.2_Missense_Mutation_p.R460K|NOL4_uc010xbu.1_Missense_Mutation_p.R534K|NOL4_uc002kxt.3_Missense_Mutation_p.R496K	p.R598K	NM_003787	NP_003778	O94818	NOL4_HUMAN			11	2022	-			598					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1793G>A	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	10.45	1.355037	0.24512	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	L	0.40543	1.245	0.46564	D	0.999103	P;P;P;P;P;B	0.49253	0.792;0.874;0.921;0.792;0.679;0.041	B;B;P;B;P;B	0.50791	0.254;0.443;0.524;0.254;0.65;0.078	T	0.50048	-0.8873	9	0.12430	T	0.62	-16.2227	19.9507	0.97198	0.0:1.0:0.0:0.0	.	313;524;598;313;496;379	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	K	598;382;313;379;524	.	ENSP00000261592:R598K	R	-	2	0	NOL4	29686928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.740000	0.62087	2.705000	0.92388	0.655000	0.94253	AGA		0.453	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		13	44	0	0	0	0	13	44				
SLC39A6	25800	broad.mit.edu	37	18	33704511	33704511	+	Silent	SNP	G	G	A	rs200351774	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:33704511G>A	ENST00000590986.1	-	3	1231	c.942C>T	c.(940-942)atC>atT	p.I314I	SLC39A6_ENST00000440549.2_Silent_p.I39I|SLC39A6_ENST00000269187.5_Silent_p.I314I			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	314					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCTTTGGAGGGATTTCAGCCT	0.343													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20274	0.0		0.0	False		,,,				2504	0.0					uc010dmy.2		NA																	0				ovary(1)|pancreas(1)	2						c.(940-942)ATC>ATT		solute carrier family 39 (zinc transporter),		G	,	10,3710		0,10,1850	147.0	132.0	136.0		117,942	2.5	1.0	18		136	0,8202		0,0,4101	no	coding-synonymous,coding-synonymous	SLC39A6	NM_001099406.1,NM_012319.3	,	0,10,5951	AA,AG,GG		0.0,0.2688,0.0839	,	39/434,314/756	33704511	10,11912	1860	4101	5961	SO:0001819	synonymous_variant	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33704511G>A	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.942C>T	18.37:g.33704511G>A						SLC39A6_uc002kzj.2_Silent_p.I39I	p.I314I	NM_012319	NP_036451	Q13433	S39A6_HUMAN			3	1232	-			314			Extracellular (Potential).		B4DR49|B4E224|Q8IXR3|Q96HP5	Silent	SNP	ENST00000590986.1	37	c.942C>T	CCDS42428.1																																																																																				0.343	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			15	62	0	0	0	0	15	62				
EPG5	57724	broad.mit.edu	37	18	43460176	43460176	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:43460176T>A	ENST00000282041.5	-	32	5565	c.5531A>T	c.(5530-5532)cAg>cTg	p.Q1844L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1844					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GCTCAGAAGCTGCTCCGCGGA	0.587											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lbm.2		NA																	0					0						c.(5530-5532)CAG>CTG		hypothetical protein LOC57724							11.0	12.0	12.0					18																	43460176		1860	4066	5926	SO:0001583	missense	57724				autophagy			g.chr18:43460176T>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5531A>T	18.37:g.43460176T>A	ENSP00000282041:p.Gln1844Leu		OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	916	KIAA1632_uc010xcq.1_Missense_Mutation_p.Q398L|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.Q719L	p.Q1844L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			32	5631	-			1844					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.5531A>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118728	0.56505	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.13420	2.59	5.8	4.62	0.57501	.	.	.	.	.	T	0.29684	0.0741	M	0.65498	2.005	0.80722	D	1	D	0.60575	0.988	P	0.57960	0.83	T	0.02251	-1.1188	9	0.87932	D	0	-10.0237	12.2691	0.54695	0.1274:0.0:0.0:0.8726	.	1844	Q9HCE0	EPG5_HUMAN	L	1844;719	ENSP00000282041:Q1844L	ENSP00000282041:Q1844L	Q	-	2	0	EPG5	41714174	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	7.247000	0.78257	0.992000	0.38840	-0.490000	0.04691	CAG		0.587	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		3	14	0	0	0	0	3	14				
EPG5	57724	broad.mit.edu	37	18	43464702	43464703	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:43464702_43464703GG>AA	ENST00000282041.5	-	30	5217_5218	c.5183_5184CC>TT	c.(5182-5184)tCC>tTT	p.S1728F	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1728					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GAGACAGCAGGGAGCAGAGCCT	0.416																																						uc002lbm.2		NA																	0					0						c.(5182-5184)TCC>TTT		hypothetical protein LOC57724																																				SO:0001583	missense	57724				autophagy			g.chr18:43464702_43464703GG>AA	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5183_5184delinsAA	18.37:g.43464702_43464703delinsAA	ENSP00000282041:p.Ser1728Phe					KIAA1632_uc010xcq.1_Missense_Mutation_p.S282F|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.S603F	p.S1728F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			30	5283_5284	-			1728					A2BDF3|Q9H8C8	Missense_Mutation	DNP	ENST00000282041.5	37	c.5183_5184CC>TT	CCDS11926.2																																																																																				0.416	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		15	29	0	0	0	0	15	29				
TCEB3B	51224	broad.mit.edu	37	18	44561204	44561204	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:44561204C>T	ENST00000332567.4	-	1	784	c.432G>A	c.(430-432)ccG>ccA	p.P144P	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	144					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGTGAGACCTCGGGTGAGGTC	0.647																																						uc002lcr.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(430-432)CCG>CCA		elongin A2							52.0	60.0	58.0					18																	44561204		2203	4300	6503	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561204C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.432G>A	18.37:g.44561204C>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.P144P	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	785	-			144					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.432G>A	CCDS11932.1																																																																																				0.647	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		15	75	0	0	0	0	15	75				
KATNAL2	83473	broad.mit.edu	37	18	44595966	44595966	+	Missense_Mutation	SNP	G	G	A	rs200886050		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:44595966G>A	ENST00000245121.5	+	10	981	c.787G>A	c.(787-789)Gtt>Att	p.V263I	KATNAL2_ENST00000356157.7_Missense_Mutation_p.V335I|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AGAAAAACTCGTTCGGGTAGG	0.358																																						uc002lco.2		NA																	0				ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(787-789)GTT>ATT		katanin p60 subunit A-like 2		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	67.0	64.0	65.0		787	4.9	1.0	18		65	0,8600		0,0,4300	no	missense	KATNAL2	NM_031303.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	263/467	44595966	1,13005	2203	4300	6503	SO:0001583	missense	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44595966G>A	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.787G>A	18.37:g.44595966G>A	ENSP00000245121:p.Val263Ile					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Missense_Mutation_p.V190I	p.V263I	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN			10	981	+			335						Missense_Mutation	SNP	ENST00000245121.5	37	c.787G>A	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110542	0.56398	2.27E-4	0.0	ENSG00000167216	ENST00000356157;ENST00000245121;ENST00000454462	D;D	0.92199	-2.99;-2.99	5.78	4.91	0.64330	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	N	0.17800	0.525	0.58432	D	0.999998	P	0.49090	0.919	B	0.43445	0.42	D	0.86566	0.1844	10	0.37606	T	0.19	-7.0084	15.1377	0.72583	0.0678:0.0:0.9322:0.0	.	335	Q8IYT4	KATL2_HUMAN	I	335;263;103	ENSP00000348478:V335I;ENSP00000245121:V263I	ENSP00000245121:V263I	V	+	1	0	KATNAL2	42849964	1.000000	0.71417	0.995000	0.50966	0.463000	0.32649	6.736000	0.74811	1.468000	0.48064	-0.123000	0.14984	GTT		0.358	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		11	38	0	0	0	0	11	38				
DCC	1630	broad.mit.edu	37	18	50866165	50866165	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:50866165G>A	ENST00000442544.2	+	15	2863	c.2247G>A	c.(2245-2247)ttG>ttA	p.L749L	DCC_ENST00000581580.1_Silent_p.L404L|DCC_ENST00000412726.1_Silent_p.L597L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	749	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCCTCCCTTGAACCCAAACA	0.483																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(2245-2247)TTG>TTA		netrin receptor DCC precursor							226.0	187.0	200.0					18																	50866165		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50866165G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2247G>A	18.37:g.50866165G>A						DCC_uc010xdr.1_Silent_p.L597L|DCC_uc010dpf.1_Silent_p.L404L	p.L749L	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	15	2834	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	749			Extracellular (Potential).|Fibronectin type-III 4.			Silent	SNP	ENST00000442544.2	37	c.2247G>A	CCDS11952.1																																																																																				0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		21	62	0	0	0	0	21	62				
ALPK2	115701	broad.mit.edu	37	18	56246869	56246869	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:56246869C>T	ENST00000361673.3	-	4	1352	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	380						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACAACCCATTCCACTGAGGAA	0.537											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(1138-1140)GGA>GAA		heart alpha-kinase							113.0	103.0	106.0					18																	56246869		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246869C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1139G>A	18.37:g.56246869C>T	ENSP00000354991:p.Gly380Glu		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.G380E	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	1353	-			380					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1139G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	3.424	-0.117471	0.06838	.	.	ENSG00000198796	ENST00000361673	T	0.24151	1.87	5.83	2.13	0.27403	.	0.260739	0.20256	N	0.095975	T	0.05868	0.0153	N	0.01209	-0.955	0.23435	N	0.997683	B	0.02656	0.0	B	0.01281	0.0	T	0.38478	-0.9659	10	0.02654	T	1	-3.2261	3.9898	0.09532	0.143:0.2437:0.0:0.6133	.	380	Q86TB3	ALPK2_HUMAN	E	380	ENSP00000354991:G380E	ENSP00000354991:G380E	G	-	2	0	ALPK2	54397849	1.000000	0.71417	0.878000	0.34440	0.962000	0.63368	0.939000	0.28978	0.119000	0.18210	0.561000	0.74099	GGA		0.537	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		11	16	0	0	0	0	11	16				
CPLX4	339302	broad.mit.edu	37	18	56985658	56985659	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:56985658_56985659CC>TT	ENST00000299721.3	-	1	222_223	c.36_37GG>AA	c.(34-39)caGGta>caAAta	p.V13I	CPLX4_ENST00000587244.1_Missense_Mutation_p.V13I	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	13					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AAATTCTTTACCTGGTTACTTA	0.371																																						uc002lhy.2		NA																	0				ovary(1)	1						c.(34-39)CAGGTA>CAAATA		complexin 4 precursor																																				SO:0001583	missense	339302				exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	g.chr18:56985658_56985659CC>TT	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.36_37delinsTT	18.37:g.56985658_56985659delinsTT	ENSP00000299721:p.Val13Ile						p.V13I	NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN			1	223_224	-		Colorectal(73;0.175)	13					F1T0L6	Missense_Mutation	DNP	ENST00000299721.3	37	c.36_37GG>AA	CCDS11973.1																																																																																				0.371	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		13	50	0	0	0	0	13	50				
KIAA1468	57614	broad.mit.edu	37	18	59912005	59912005	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:59912005C>T	ENST00000398130.2	+	11	1861	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	KIAA1468_ENST00000256858.6_Silent_p.I543I|RP11-173A16.2_ENST00000588561.1_RNA	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	543										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGGAGTTGATCCCCCTCATAT	0.373																																						uc002lil.2		NA																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(1627-1629)ATC>ATT		hypothetical protein LOC57614							90.0	88.0	89.0					18																	59912005		2203	4300	6503	SO:0001819	synonymous_variant	57614						binding	g.chr18:59912005C>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1629C>T	18.37:g.59912005C>T						KIAA1468_uc002lik.1_Silent_p.I543I|KIAA1468_uc010xel.1_Silent_p.I543I|KIAA1468_uc002lim.2_Silent_p.I187I	p.I543I	NM_020854	NP_065905	Q9P260	K1468_HUMAN			11	1844	+		Colorectal(73;0.186)	543						Silent	SNP	ENST00000398130.2	37	c.1629C>T	CCDS11979.2																																																																																				0.373	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		16	41	0	0	0	0	16	41				
BCL2	596	broad.mit.edu	37	18	60795881	60795881	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:60795881C>T	ENST00000398117.1	-	2	2158	c.697G>A	c.(697-699)Ggt>Agt	p.G233S	BCL2_ENST00000590515.1_5'UTR|BCL2_ENST00000333681.4_Missense_Mutation_p.G233S	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	233					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	AGATAGGCACCCAGGGTGATG	0.502			T	IGH@	"""NHL, CLL"""																																	uc002lit.1		NA		Dom	yes		18	18q21.3	596	T	B-cell CLL/lymphoma 2			L	IGH@		NHL|CLL		0				central_nervous_system(1)	1						c.(697-699)GGT>AGT		B-cell lymphoma protein 2 alpha isoform	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)						68.0	67.0	67.0					18																	60795881		2203	4300	6503	SO:0001583	missense	596				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	g.chr18:60795881C>T	M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	990	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 50"""	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.697G>A	18.37:g.60795881C>T	ENSP00000381185:p.Gly233Ser					BCL2_uc002liu.1_Missense_Mutation_p.G233S	p.G233S	NM_000633	NP_000624	P10415	BCL2_HUMAN		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	3	1190	-		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)	233			Helical; (Potential).		C9JHD5|P10416|Q13842|Q16197	Missense_Mutation	SNP	ENST00000398117.1	37	c.697G>A	CCDS11981.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753811	0.89753	.	.	ENSG00000171791	ENST00000398117;ENST00000333681	T;T	0.33438	1.41;1.41	5.15	5.15	0.70609	.	0.305848	0.29579	N	0.011756	T	0.44138	0.1279	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47032	-0.9148	10	0.87932	D	0	-6.8397	17.999	0.89193	0.0:1.0:0.0:0.0	.	233	P10415	BCL2_HUMAN	S	233	ENSP00000381185:G233S;ENSP00000329623:G233S	ENSP00000329623:G233S	G	-	1	0	BCL2	58946861	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.072000	0.64389	2.550000	0.86006	0.655000	0.94253	GGT		0.502	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256199.1	NM_000633, NM_000657		10	33	0	0	0	0	10	33				
ZNF516	9658	broad.mit.edu	37	18	74154069	74154069	+	Silent	SNP	G	G	A	rs541624835		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:74154069G>A	ENST00000443185.2	-	3	1259	c.942C>T	c.(940-942)ccC>ccT	p.P314P	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGGTGGCGATGGGGTCCAGCT	0.617																																						uc010dqx.1		NA																	0				ovary(1)	1						c.(940-942)CCC>CCT		zinc finger protein 516							65.0	74.0	71.0					18																	74154069		2188	4272	6460	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154069G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.942C>T	18.37:g.74154069G>A						ZNF516_uc002lme.2_RNA	p.P314P	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	1177	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	314						Silent	SNP	ENST00000443185.2	37	c.942C>T																																																																																					0.617	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		7	41	0	0	0	0	7	41				
CTDP1	9150	broad.mit.edu	37	18	77464883	77464883	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:77464883C>T	ENST00000299543.7	+	5	885	c.738C>T	c.(736-738)acC>acT	p.T246T	CTDP1_ENST00000075430.7_Silent_p.T246T|RP11-567M16.5_ENST00000587315.1_RNA	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	246	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACGTCTTCACCTTCGGCAGCC	0.607																																						uc002lnh.1		NA																	0					0						c.(736-738)ACC>ACT		CTD (carboxy-terminal domain, RNA polymerase II,							73.0	59.0	64.0					18																	77464883		2203	4300	6503	SO:0001819	synonymous_variant	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77464883C>T	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.738C>T	18.37:g.77464883C>T						CTDP1_uc002lni.1_Silent_p.T246T|CTDP1_uc010drd.1_Silent_p.T246T	p.T246T	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	5	885	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	246			FCP1 homology.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	c.738C>T	CCDS12017.1																																																																																				0.607	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		10	35	0	0	0	0	10	35				
SHC2	25759	broad.mit.edu	37	19	419011	419011	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:419011C>T	ENST00000264554.6	-	12	1665	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	556	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGTGGTCGATCAGGTGG	0.672																																						uc002loq.3		NA																	0					0						c.(1666-1668)GAC>AAC		SHC (Src homology 2 domain containing)							23.0	29.0	27.0					19																	419011		2127	4234	6361	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:419011C>T	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1666G>A	19.37:g.419011C>T	ENSP00000264554:p.Asp556Asn					SHC2_uc002lop.3_Missense_Mutation_p.D297N	p.D556N	NM_012435	NP_036567	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1666	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	556			SH2.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.1666G>A	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244633	0.22796	.	.	ENSG00000129946	ENST00000264554	D	0.88277	-2.36	4.53	4.53	0.55603	SH2 motif (5);	0.492647	0.22606	N	0.057882	T	0.67116	0.2859	N	0.02225	-0.63	0.32287	N	0.566859	B	0.17852	0.024	B	0.17433	0.018	T	0.64253	-0.6451	10	0.02654	T	1	-37.2725	5.948	0.19229	0.191:0.7095:0.0:0.0995	.	556	P98077	SHC2_HUMAN	N	556	ENSP00000264554:D556N	ENSP00000264554:D556N	D	-	1	0	SHC2	370011	0.959000	0.32827	1.000000	0.80357	0.826000	0.46750	1.462000	0.35266	2.091000	0.63221	0.598000	0.82781	GAC		0.672	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			4	2	0	0	0	0	4	2				
PTBP1	5725	broad.mit.edu	37	19	806556	806556	+	Splice_Site	SNP	G	G	A	rs150400507	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:806556G>A	ENST00000349038.4	+	9	1114	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	PTBP1_ENST00000356948.6_Splice_Site_p.E373E|PTBP1_ENST00000394601.4_Splice_Site_p.E366E|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	347	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAACCCAGAGGTACGTGGGC	0.701													G|||	2	0.000399361	0.0	0.0	5008	,	,		12302	0.0		0.002	False		,,,				2504	0.0					uc002lpr.2		NA																	0				kidney(1)|skin(1)	2						c.(1039-1041)GAG>GAA		polypyrimidine tract-binding protein 1 isoform		G	,,,	3,4399	6.2+/-15.9	0,3,2198	53.0	39.0	44.0		1119,1098,1041,	4.0	1.0	19	dbSNP_134	44	12,8588	8.4+/-32.0	0,12,4288	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,intron	PTBP1	NM_002819.4,NM_031990.3,NM_031991.3,NM_175847.2	,,,	0,15,6486	AA,AG,GG		0.1395,0.0682,0.1154	,,,	373/558,366/551,347/532,	806556	15,12987	2201	4300	6501	SO:0001630	splice_region_variant	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:806556G>A	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1041+1G>A	19.37:g.806556G>A						PTBP1_uc002lpp.2_Silent_p.E373E|PTBP1_uc002lpq.2_Silent_p.E366E|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Silent_p.E343E	p.E347E	NM_031991	NP_114368	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1147	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	347			RRM 3.		Q9BUQ0	Silent	SNP	ENST00000349038.4	37	c.1041G>A	CCDS32859.1																																																																																				0.701	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1		Silent	4	8	0	0	0	0	4	8				
ABCA7	10347	broad.mit.edu	37	19	1049288	1049288	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1049288G>A	ENST00000263094.6	+	18	2635	c.2404G>A	c.(2404-2406)Ggc>Agc	p.G802S	ABCA7_ENST00000433129.1_Missense_Mutation_p.G802S|ABCA7_ENST00000435683.2_Missense_Mutation_p.G664S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	802					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCACCGCCCGGCCTGAGTCC	0.667																																						uc002lqw.3		NA																	0				pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(2404-2406)GGC>AGC		ATP-binding cassette, sub-family A, member 7							54.0	63.0	60.0					19																	1049288		2202	4298	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1049288G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2404G>A	19.37:g.1049288G>A	ENSP00000263094:p.Gly802Ser					ABCA7_uc010dsb.1_Missense_Mutation_p.G664S	p.G802S	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2635	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	802					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.2404G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	8.969	0.972471	0.18736	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86769	-2.17;-2.17	4.0	4.0	0.46444	.	.	.	.	.	T	0.80248	0.4588	L	0.54965	1.715	0.21290	N	0.999737	B;P	0.35908	0.214;0.527	B;B	0.23716	0.036;0.048	T	0.67799	-0.5577	9	0.19147	T	0.46	.	10.8792	0.46929	0.0:0.3228:0.6772:0.0	.	664;802	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	S	802	ENSP00000263094:G802S;ENSP00000414062:G802S	ENSP00000263094:G802S	G	+	1	0	ABCA7	1000288	0.001000	0.12720	0.085000	0.20634	0.133000	0.20885	0.102000	0.15272	1.959000	0.56917	0.462000	0.41574	GGC		0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		21	44	0	0	0	0	21	44				
ABCA7	10347	broad.mit.edu	37	19	1056930	1056930	+	Silent	SNP	C	C	T	rs146414455		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1056930C>T	ENST00000263094.6	+	34	4842	c.4611C>T	c.(4609-4611)ctC>ctT	p.L1537L	ABCA7_ENST00000433129.1_Silent_p.L1537L|ABCA7_ENST00000435683.2_Silent_p.L1399L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1537					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACGTCCTCGTCTCCATCT	0.577																																						uc002lqw.3		NA																	0				pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(4609-4611)CTC>CTT		ATP-binding cassette, sub-family A, member 7		C		1,4405	2.1+/-5.4	0,1,2202	297.0	227.0	251.0		4611	-7.8	0.5	19	dbSNP_134	251	0,8600		0,0,4300	no	coding-synonymous	ABCA7	NM_019112.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1537/2147	1056930	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1056930C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4611C>T	19.37:g.1056930C>T						ABCA7_uc002lqy.2_Silent_p.L8L|ABCA7_uc010dsc.2_5'Flank	p.L1537L	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	34	4842	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1537			Extracellular (By similarity).		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.4611C>T	CCDS12055.1																																																																																				0.577	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		25	58	0	0	0	0	25	58				
BTBD2	55643	broad.mit.edu	37	19	1987221	1987221	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1987221C>T	ENST00000255608.4	-	7	1229	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	405						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCAAATCCCACCACGAAG	0.612																																						uc002lup.1		NA																	0				ovary(1)|skin(1)	2						c.(1213-1215)GGA>AGA		BTB (POZ) domain containing 2							205.0	174.0	184.0					19																	1987221		2203	4300	6503	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1987221C>T	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1213G>A	19.37:g.1987221C>T	ENSP00000255608:p.Gly405Arg					BTBD2_uc002luo.1_Missense_Mutation_p.G84R	p.G405R	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1213	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	405					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.1213G>A	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	c	28.6	4.931291	0.92389	.	.	ENSG00000133243	ENST00000255608	D	0.86769	-2.17	4.44	4.44	0.53790	PHR (1);	0.000000	0.85682	D	0.000000	D	0.94341	0.8181	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.95467	0.8548	10	0.72032	D	0.01	-46.4415	16.2167	0.82231	0.0:1.0:0.0:0.0	.	405	Q9BX70	BTBD2_HUMAN	R	405	ENSP00000255608:G405R	ENSP00000255608:G405R	G	-	1	0	BTBD2	1938221	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.454000	0.80714	2.293000	0.77203	0.556000	0.70494	GGA		0.612	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			6	36	0	0	0	0	6	36				
IZUMO4	113177	broad.mit.edu	37	19	2096977	2096977	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:2096977G>T	ENST00000395301.3	+	1	97	c.33G>T	c.(31-33)acG>acT	p.T11T	IZUMO4_ENST00000395296.1_Silent_p.T11T|IZUMO4_ENST00000395307.2_Silent_p.T11T|MOB3A_ENST00000357066.3_5'Flank	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	11						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						TGTGCCTGACGGCGGCGCTGG	0.672											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002luw.1		NA																	0					0						c.(31-33)ACG>ACT		hypothetical protein LOC113177 isoform 3							41.0	46.0	45.0					19																	2096977		2202	4299	6501	SO:0001819	synonymous_variant	113177					extracellular region		g.chr19:2096977G>T	BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"""-"""	26950	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 36"""	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.33G>T	19.37:g.2096977G>T			OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	C19orf36_uc002lux.1_Silent_p.T11T|C19orf36_uc010xgw.1_Silent_p.T11T|MOBKL2A_uc002luv.2_5'Flank	p.T11T	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	110	+		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	11					A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Silent	SNP	ENST00000395301.3	37	c.33G>T	CCDS42458.1																																																																																				0.672	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280536.3	NM_052878		16	50	1	0	5.39e-06	5.49e-06	16	50				
APBA3	9546	broad.mit.edu	37	19	3760025	3760025	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:3760025G>A	ENST00000316757.3	-	2	438	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	80					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGACAGGGGGCTCCACCT	0.627																																						uc002lyp.1		NA																	0					0						c.(238-240)CCC>TCC		amyloid beta (A4) precursor protein-binding,							39.0	42.0	41.0					19																	3760025		2203	4300	6503	SO:0001583	missense	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3760025G>A	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.238C>T	19.37:g.3760025G>A	ENSP00000315136:p.Pro80Ser					MRPL54_uc002lyq.3_5'Flank	p.P80S	NM_004886	NP_004877	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	2	415	-		Hepatocellular(1079;0.137)	80					O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	c.238C>T	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377604	0.42105	.	.	ENSG00000011132	ENST00000316757	T	0.38401	1.14	4.73	4.73	0.59995	.	0.263750	0.27143	N	0.020735	T	0.28067	0.0692	L	0.34521	1.04	0.36176	D	0.849082	P	0.43094	0.799	B	0.36845	0.234	T	0.44065	-0.9352	10	0.66056	D	0.02	.	14.4235	0.67200	0.0:0.0:1.0:0.0	.	80	O96018	APBA3_HUMAN	S	80	ENSP00000315136:P80S	ENSP00000315136:P80S	P	-	1	0	APBA3	3711025	1.000000	0.71417	0.711000	0.30485	0.133000	0.20885	5.687000	0.68219	2.171000	0.68590	0.561000	0.74099	CCC		0.627	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			10	34	0	0	0	0	10	34				
DAPK3	1613	broad.mit.edu	37	19	3964694	3964694	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:3964694G>A	ENST00000545797.2	-	3	601	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	DAPK3_ENST00000301264.3_Missense_Mutation_p.L120F			O43293	DAPK3_HUMAN	death-associated protein kinase 3	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTGCTTGAGGAACTGGGTG	0.632																																						uc002lzc.1		NA																	0				central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7						c.(358-360)CTC>TTC		death-associated protein kinase 3							123.0	121.0	122.0					19																	3964694		2203	4300	6503	SO:0001583	missense	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964694G>A	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.358C>T	19.37:g.3964694G>A	ENSP00000442973:p.Leu120Phe					DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Missense_Mutation_p.L120F	p.L120F	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	451	-		Hepatocellular(1079;0.137)	120			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	c.358C>T	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238209	0.79800	.	.	ENSG00000167657	ENST00000301264;ENST00000545797	T;T	0.65178	-0.14;-0.14	5.82	3.65	0.41850	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	0.000002	T	0.62913	0.2467	N	0.17594	0.5	0.52501	D	0.999958	D	0.61697	0.99	P	0.61874	0.895	T	0.67745	-0.5591	10	0.72032	D	0.01	.	14.4633	0.67467	0.0:0.0:0.7316:0.2684	.	120	O43293	DAPK3_HUMAN	F	120	ENSP00000301264:L120F;ENSP00000442973:L120F	ENSP00000301264:L120F	L	-	1	0	DAPK3	3915694	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.106000	0.50322	0.770000	0.33336	0.561000	0.74099	CTC		0.632	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		13	93	0	0	0	0	13	93				
EEF2	1938	broad.mit.edu	37	19	3977901	3977901	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:3977901G>A	ENST00000309311.6	-	12	2071	c.1983C>T	c.(1981-1983)atC>atT	p.I661I		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	661					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCGGTGAGGATGTTGGGGC	0.642																																					Colon(165;1804 1908 4071 6587 18799)	uc002lze.2		NA																	0					0						c.(1981-1983)ATC>ATT		eukaryotic translation elongation factor 2							99.0	91.0	94.0					19																	3977901		2203	4300	6503	SO:0001819	synonymous_variant	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3977901G>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1983C>T	19.37:g.3977901G>A							p.I661I	NM_001961	NP_001952	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2066	-		Hepatocellular(1079;0.137)	661					B2RMP5|D6W618|Q58J86	Silent	SNP	ENST00000309311.6	37	c.1983C>T	CCDS12117.1																																																																																				0.642	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		16	63	0	0	0	0	16	63				
PIAS4	51588	broad.mit.edu	37	19	4037787	4037787	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4037787G>A	ENST00000262971.2	+	11	1562	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	483	Asp/Glu-rich (acidic).				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ggaggaggaggaagaggagga	0.701																																						uc002lzg.2		NA																	0				pancreas(1)	1						c.(1447-1449)GAA>AAA		protein inhibitor of activated STAT, 4							16.0	15.0	16.0					19																	4037787		2183	4268	6451	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4037787G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1447G>A	19.37:g.4037787G>A	ENSP00000262971:p.Glu483Lys						p.E483K	NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1457	+			483			Asp/Glu-rich (acidic).		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.1447G>A	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	g	6.039	0.375600	0.11409	.	.	ENSG00000105229	ENST00000262971	T	0.32515	1.45	4.02	4.02	0.46733	.	0.157745	0.39759	U	0.001267	T	0.27349	0.0671	L	0.44542	1.39	0.29401	N	0.861958	B	0.17667	0.023	B	0.14023	0.01	T	0.23797	-1.0178	10	0.59425	D	0.04	.	12.923	0.58243	0.0:0.0:1.0:0.0	.	483	Q8N2W9	PIAS4_HUMAN	K	483	ENSP00000262971:E483K	ENSP00000262971:E483K	E	+	1	0	PIAS4	3988787	1.000000	0.71417	0.081000	0.20488	0.171000	0.22731	6.723000	0.74742	1.808000	0.52836	0.466000	0.42574	GAA		0.701	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		5	10	0	0	0	0	5	10				
CREB3L3	84699	broad.mit.edu	37	19	4155015	4155015	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4155015C>T	ENST00000078445.2	+	2	294	c.147C>T	c.(145-147)gtC>gtT	p.V49V	CREB3L3_ENST00000595923.1_Silent_p.V49V|CREB3L3_ENST00000602257.1_Silent_p.V49V|CREB3L3_ENST00000252587.3_Silent_p.V40V|CREB3L3_ENST00000602147.1_Silent_p.V49V	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	49					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTCACGTCAAGGACCAGG	0.652																																						uc002lzl.2		NA																	0				ovary(1)|skin(1)	2						c.(145-147)GTC>GTT		cAMP responsive element binding protein 3-like							73.0	66.0	69.0					19																	4155015		2203	4300	6503	SO:0001819	synonymous_variant	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4155015C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.147C>T	19.37:g.4155015C>T						CREB3L3_uc002lzm.2_Silent_p.V40V|CREB3L3_uc010xib.1_Silent_p.V40V|CREB3L3_uc010xic.1_Silent_p.V40V	p.V49V	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	2	263	+			49			Cytoplasmic (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Silent	SNP	ENST00000078445.2	37	c.147C>T	CCDS12121.1																																																																																				0.652	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		15	65	0	0	0	0	15	65				
LRG1	116844	broad.mit.edu	37	19	4538433	4538433	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4538433G>A	ENST00000306390.6	-	2	1023	c.563C>T	c.(562-564)aCc>aTc	p.T188I	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	188					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		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)		GCGCAGGAGGGTGAAGTTGGC	0.622																																						uc002mau.2		NA																	0				ovary(1)	1						c.(562-564)ACC>ATC		leucine-rich alpha-2-glycoprotein 1 precursor							111.0	124.0	120.0					19																	4538433		2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538433G>A		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.563C>T	19.37:g.4538433G>A	ENSP00000302621:p.Thr188Ile					PLIN5_uc002mat.1_Intron	p.T188I	NM_052972	NP_443204	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	574	-		Hepatocellular(1079;0.137)	188					Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.563C>T	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	11.38	1.621619	0.28889	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02682	4.2	4.93	0.892	0.19230	.	0.656262	0.12571	N	0.457346	T	0.11153	0.0272	M	0.72353	2.195	0.09310	N	1	D	0.55800	0.973	P	0.61275	0.886	T	0.10870	-1.0611	10	0.38643	T	0.18	-7.3672	13.3377	0.60526	0.0:0.5295:0.4705:0.0	.	188	P02750	A2GL_HUMAN	I	188;171	ENSP00000302621:T188I	ENSP00000302621:T188I	T	-	2	0	LRG1	4489433	0.000000	0.05858	0.000000	0.03702	0.374000	0.29953	0.096000	0.15147	0.082000	0.17018	0.655000	0.94253	ACC		0.622	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		46	149	0	0	0	0	46	149				
DPP9	91039	broad.mit.edu	37	19	4697574	4697574	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4697574C>T	ENST00000598800.1	-	12	1582	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R	DPP9_ENST00000594671.1_Silent_p.R359R|DPP9_ENST00000597849.1_Silent_p.R388R|DPP9_ENST00000262960.9_Silent_p.R388R			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	359						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ATTTGCCATCCCGGGTCCACC	0.632																																						uc002mba.2		NA																	0				skin(1)	1						c.(1162-1164)CGG>CGA		dipeptidylpeptidase 9							44.0	48.0	47.0					19																	4697574		1965	4133	6098	SO:0001819	synonymous_variant	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4697574C>T	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1077G>A	19.37:g.4697574C>T						DPP9_uc002mbb.2_Silent_p.R388R|DPP9_uc002mbc.2_Silent_p.R388R	p.R388R	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	11	1422	-		Hepatocellular(1079;0.137)	359					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	ENST00000598800.1	37	c.1164G>A																																																																																					0.632	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			6	24	0	0	0	0	6	24				
PTPRS	5802	broad.mit.edu	37	19	5220306	5220306	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:5220306G>A	ENST00000587303.1	-	20	3613	c.3514C>T	c.(3514-3516)Ccg>Tcg	p.P1172S	PTPRS_ENST00000588012.1_Missense_Mutation_p.P1150S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1150S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P741S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P741S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1172S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1168S|PTPRS_ENST00000372412.4_Missense_Mutation_p.P1173S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1172					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CTACCCAGCGGGGTCAGGAAT	0.587																																						uc002mbv.2		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(3514-3516)CCG>TCG		protein tyrosine phosphatase, receptor type,							52.0	50.0	50.0					19																	5220306		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5220306G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3514C>T	19.37:g.5220306G>A	ENSP00000467537:p.Pro1172Ser					PTPRS_uc002mbu.1_Missense_Mutation_p.P741S|PTPRS_uc010xin.1_Missense_Mutation_p.P741S|PTPRS_uc002mbw.2_Missense_Mutation_p.P1150S|PTPRS_uc002mbx.2_Missense_Mutation_p.P745S|PTPRS_uc002mby.2_Missense_Mutation_p.P741S	p.P1172S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	21	3748	-			1172			Extracellular (Potential).		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3514C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939465	0.34189	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.53857	0.77;0.76;0.72;0.6;0.68	3.92	3.92	0.45320	.	0.178842	0.37178	U	0.002219	T	0.43233	0.1238	L	0.55481	1.735	0.09310	N	0.999998	B;B;B;B;B;P	0.37423	0.142;0.001;0.068;0.007;0.087;0.594	B;B;B;B;B;B	0.33454	0.138;0.009;0.138;0.022;0.04;0.164	T	0.41124	-0.9526	10	0.39692	T	0.17	.	9.8881	0.41274	0.0939:0.0:0.9061:0.0	.	754;741;745;1150;1172;767	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	767;1173;1172;1172;1163;1168;1150;754;745;741	ENSP00000361489:P1173S;ENSP00000349932:P1172S;ENSP00000262963:P1168S;ENSP00000269907:P1150S;ENSP00000327313:P741S	ENSP00000262963:P1168S	P	-	1	0	PTPRS	5171306	1.000000	0.71417	0.949000	0.38748	0.688000	0.40055	4.440000	0.59975	2.027000	0.59764	0.655000	0.94253	CCG		0.587	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			5	21	0	0	0	0	5	21				
CLEC4M	10332	broad.mit.edu	37	19	7830111	7830111	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:7830111C>T	ENST00000327325.5	+	3	289	c.171C>T	c.(169-171)tcC>tcT	p.S57S	CLEC4M_ENST00000596363.1_Silent_p.S29S|CLEC4M_ENST00000334806.5_Silent_p.S29S|CLEC4M_ENST00000394122.2_Silent_p.S49S|CLEC4M_ENST00000597522.1_Silent_p.S57S|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000357361.2_Silent_p.S57S|CLEC4M_ENST00000248228.4_Silent_p.S57S|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000596707.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	57					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AACTCCTCTCCTTCATGCTCT	0.622																																						uc002mih.2		NA																	0				pancreas(1)	1						c.(169-171)TCC>TCT		C-type lectin domain family 4, member M isoform							176.0	151.0	159.0					19																	7830111		2203	4300	6503	SO:0001819	synonymous_variant	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7830111C>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.171C>T	19.37:g.7830111C>T						CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Silent_p.S57S|CLEC4M_uc010dvs.2_Silent_p.S56S|CLEC4M_uc010xjx.1_Silent_p.S29S|CLEC4M_uc002mhz.2_Silent_p.S57S|CLEC4M_uc002mic.2_Silent_p.S29S|CLEC4M_uc002mia.2_Intron	p.S57S	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN			3	289	+			57			Helical; Signal-anchor for type II membrane protein; (Probable).		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	c.171C>T	CCDS12187.1																																																																																				0.622	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		22	53	0	0	0	0	22	53				
HNRNPM	4670	broad.mit.edu	37	19	8550506	8550507	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:8550506_8550507CC>TT	ENST00000325495.4	+	14	1235_1236	c.1194_1195CC>TT	c.(1192-1197)gtCCct>gtTTct	p.P399S	HNRNPM_ENST00000348943.3_Missense_Mutation_p.P360S	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	399					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGGAAGCGTCCCTGGGATCGA	0.634																																						uc010dwe.2		NA																	0					0						c.(1192-1197)GTCCCT>GTTTCT		heterogeneous nuclear ribonucleoprotein M																																				SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550506_8550507CC>TT	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	Exception_encountered	19.37:g.8550506_8550507delinsTT	ENSP00000325376:p.Pro399Ser					HNRNPM_uc010xke.1_Missense_Mutation_p.P345S|HNRNPM_uc010dwd.2_Missense_Mutation_p.P360S|HNRNPM_uc002mka.2_Missense_Mutation_p.P264S|HNRNPM_uc002mkb.1_5'Flank	p.P399S	NM_005968	NP_005959	P52272	HNRPM_HUMAN			14	1274_1275	+			399					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	DNP	ENST00000325495.4	37	c.1194_1195CC>TT	CCDS12203.1																																																																																				0.634	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			23	95	0	0	0	0	23	95				
MUC16	94025	broad.mit.edu	37	19	9068060	9068060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9068060C>T	ENST00000397910.4	-	3	19589	c.19386G>A	c.(19384-19386)tgG>tgA	p.W6462*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6464	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGATGTGTCCCAGGTAAGGG	0.483																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19384-19386)TGG>TGA		mucin 16							254.0	248.0	250.0					19																	9068060		2001	4185	6186	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068060C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19386G>A	19.37:g.9068060C>T	ENSP00000381008:p.Trp6462*						p.W6462*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19590	-			6464			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.19386G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	58	30.562030	0.99977	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.15	-3.39	0.04868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.369	0.07213	0.0:0.3037:0.2199:0.4763	.	.	.	.	X	6462	.	ENSP00000381008:W6462X	W	-	3	0	MUC16	8929060	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.227000	0.09126	-0.736000	0.04831	0.177000	0.17058	TGG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		39	119	0	0	0	0	39	119				
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9072091G>A	ENST00000397910.4	-	3	15558	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5121	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTATAGAAGGAAAAATTTCC	0.453																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15355-15357)CCT>TCT		mucin 16							133.0	125.0	128.0					19																	9072091		1938	4136	6074	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072091G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15355C>T	19.37:g.9072091G>A	ENSP00000381008:p.Pro5119Ser						p.P5119S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15559	-			5121			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15355C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.095	-0.407554	0.04832	.	.	ENSG00000181143	ENST00000397910	T	0.26957	1.7	1.56	-1.36	0.09085	.	.	.	.	.	T	0.21186	0.0510	L	0.46157	1.445	.	.	.	P	0.52061	0.95	P	0.45138	0.471	T	0.24261	-1.0165	8	0.87932	D	0	.	3.5828	0.07959	0.0:0.2809:0.4341:0.285	.	5119	B5ME49	.	S	5119	ENSP00000381008:P5119S	ENSP00000381008:P5119S	P	-	1	0	MUC16	8933091	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	-0.581000	0.05820	-0.202000	0.10268	0.109000	0.15622	CCT		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	74	0	0	0	0	28	74				
MUC16	94025	broad.mit.edu	37	19	9090942	9090942	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9090942G>T	ENST00000397910.4	-	1	1076	c.873C>A	c.(871-873)ctC>ctA	p.L291L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	291	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTTATTATCGAGAACTGAAG	0.517																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(871-873)CTC>CTA		mucin 16							128.0	127.0	128.0					19																	9090942		1978	4177	6155	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090942G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.873C>A	19.37:g.9090942G>T							p.L291L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	1077	-			291			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.873C>A	CCDS54212.1																																																																																				0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		51	72	1	0	8.79e-14	9.08e-14	51	72				
ZNF559	84527	broad.mit.edu	37	19	9453078	9453078	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9453078G>A	ENST00000393883.2	+	6	1599	c.951G>A	c.(949-951)agG>agA	p.R317R	ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Silent_p.R237R|ZNF559_ENST00000603380.1_Silent_p.R317R|ZNF559_ENST00000587557.1_Silent_p.R381R|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|CTC-325H20.2_ENST00000592371.1_lincRNA	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	317					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(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTCACATAAGGGTTCACACTG	0.368																																						uc002mlg.2		NA																	0				ovary(1)	1						c.(949-951)AGG>AGA		zinc finger protein 559							71.0	72.0	71.0					19																	9453078		2203	4300	6503	SO:0001819	synonymous_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453078G>A	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.951G>A	19.37:g.9453078G>A						ZNF559_uc002mlf.2_Silent_p.R86R|ZNF559_uc010dwl.1_Silent_p.R86R|ZNF559_uc010xkn.1_Silent_p.R309R|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.R381R|ZNF559_uc010dwk.1_Silent_p.R86R|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	p.R317R	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN			7	1598	+			317			C2H2-type 6.		K7EMG6	Silent	SNP	ENST00000393883.2	37	c.951G>A	CCDS12211.1																																																																																				0.368	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		6	53	0	0	0	0	6	53				
ZNF177	7730	broad.mit.edu	37	19	9489658	9489658	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9489658A>G	ENST00000589262.1	+	3	120	c.54A>G	c.(52-54)gaA>gaG	p.E18E	ZNF177_ENST00000446085.4_Silent_p.E18E|ZNF177_ENST00000602738.1_Silent_p.E18E|ZNF177_ENST00000541595.2_Silent_p.E18E|ZNF177_ENST00000602856.1_Silent_p.E18E|ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000590616.1_Silent_p.E18E|ZNF177_ENST00000343499.4_Silent_p.E18E|ZNF177_ENST00000434737.2_Silent_p.E18E	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	18	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CCTTCCAGGAAGTGGCAGTGG	0.463																																						uc002mli.2		NA																	0				ovary(1)	1						c.(52-54)GAA>GAG		zinc finger protein 177							128.0	117.0	120.0					19																	9489658		2203	4300	6503	SO:0001819	synonymous_variant	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9489658A>G	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.54A>G	19.37:g.9489658A>G						ZNF177_uc002mlj.2_5'UTR|ZNF177_uc002mlk.2_Silent_p.E18E	p.E18E	NM_003451	NP_003442	Q13360	ZN177_HUMAN			9	717	+			18			KRAB.		B4DY57|E9PDG0|I3L0I4|Q96ER2	Silent	SNP	ENST00000589262.1	37	c.54A>G	CCDS54214.1																																																																																				0.463	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		20	99	0	0	0	0	20	99				
COL5A3	50509	broad.mit.edu	37	19	10106788	10106788	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:10106788G>A	ENST00000264828.3	-	15	1572	c.1487C>T	c.(1486-1488)cCc>cTc	p.P496L	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	496	Collagen-like 2.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGGATGCCCGGGGAGACCCTT	0.592																																						uc002mmq.1		NA																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(1486-1488)CCC>CTC		collagen, type V, alpha 3 preproprotein							164.0	157.0	159.0					19																	10106788		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10106788G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1487C>T	19.37:g.10106788G>A	ENSP00000264828:p.Pro496Leu						p.P496L	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		15	1573	-			496			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1487C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291674	0.59976	.	.	ENSG00000080573	ENST00000264828	D	0.95622	-3.76	5.56	5.56	0.83823	.	0.000000	0.64402	U	0.000001	D	0.97904	0.9311	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98450	1.0591	10	0.72032	D	0.01	.	15.0352	0.71741	0.0:0.0:1.0:0.0	.	496	P25940	CO5A3_HUMAN	L	496	ENSP00000264828:P496L	ENSP00000264828:P496L	P	-	2	0	COL5A3	9967788	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	7.694000	0.84235	2.640000	0.89533	0.655000	0.94253	CCC		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		30	108	0	0	0	0	30	108				
FDX1L	112812	broad.mit.edu	37	19	10428229	10428229	+	5'Flank	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:10428229C>T	ENST00000393708.3	-	0	0				FDX1L_ENST00000492239.1_5'Flank|CTD-2369P2.10_ENST00000452032.2_5'Flank|RAVER1_ENST00000293677.6_Silent_p.S724S|FDX1L_ENST00000494368.1_5'Flank|CTD-2369P2.12_ENST00000586529.1_Silent_p.S125S|FDX1L_ENST00000541276.1_5'Flank	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like						oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			TGGGCTCGGGCGAGGGCAGCA	0.701																																						uc002moa.2		NA																	0				ovary(1)	1						c.(2170-2172)TCG>TCA		RAVER1							31.0	33.0	33.0					19																	10428229		2002	4163	6165	SO:0001631	upstream_gene_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10428229C>T	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299		19.37:g.10428229C>T	Exception_encountered					FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc002mnz.2_Missense_Mutation_p.R122H	p.S724S	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		13	2252	-			Error:Variant_position_missing_in_Q8IY67_after_alignment					Q8N8B8	Silent	SNP	ENST00000393708.3	37	c.2172G>A	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	C	6.949	0.544861	0.13312	.	.	ENSG00000161847	ENST00000331131	.	.	.	5.15	-10.3	0.00346	.	.	.	.	.	T	0.37183	0.0994	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13361	-1.0512	7	0.54805	T	0.06	-0.625	5.394	0.16259	0.0732:0.1836:0.2306:0.5125	.	581	Q8IY67	RAVR1_HUMAN	H	581	.	ENSP00000327543:R581H	R	-	2	0	RAVER1	10289229	0.000000	0.05858	0.057000	0.19452	0.729000	0.41735	-5.027000	0.00158	-2.789000	0.00357	-2.358000	0.00240	CGC		0.701	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			14	28	0	0	0	0	14	28				
PDE4A	5141	broad.mit.edu	37	19	10578238	10578238	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:10578238G>A	ENST00000352831.6	+	15	2712	c.2602G>A	c.(2602-2604)Gag>Aag	p.E868K	PDE4A_ENST00000440014.2_Missense_Mutation_p.E807K|PDE4A_ENST00000293683.5_Missense_Mutation_p.E842K|PDE4A_ENST00000344979.3_Missense_Mutation_p.E629K|PDE4A_ENST00000380702.2_Missense_Mutation_p.E846K|PDE4A_ENST00000592685.1_Missense_Mutation_p.E846K	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	868					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GACATTTGGGGAGGACACATC	0.692																																						uc002moj.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(2602-2604)GAG>AAG		phosphodiesterase 4A isoform 1	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						44.0	46.0	45.0					19																	10578238		2157	4227	6384	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10578238G>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2602G>A	19.37:g.10578238G>A	ENSP00000270474:p.Glu868Lys					PDE4A_uc002mok.2_Missense_Mutation_p.E842K|PDE4A_uc002mol.2_Missense_Mutation_p.E807K|PDE4A_uc002mom.2_Missense_Mutation_p.E629K|PDE4A_uc002mon.2_Missense_Mutation_p.E323K|PDE4A_uc002moo.2_3'UTR	p.E868K	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		15	2710	+			868					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.2602G>A	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.223340	0.39300	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.71934	-0.58;-0.59;-0.61;-0.59;-0.32	3.28	1.03	0.20045	.	2.220440	0.01844	N	0.035484	T	0.62024	0.2394	N	0.19112	0.55	0.09310	N	1	P;P;P;B	0.49559	0.873;0.925;0.571;0.172	B;P;B;B	0.47162	0.291;0.54;0.229;0.058	T	0.54377	-0.8303	10	0.72032	D	0.01	.	4.4214	0.11482	0.1363:0.2628:0.6009:0.0	.	629;807;842;868	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	K	846;868;842;807;629	ENSP00000370078:E846K;ENSP00000270474:E868K;ENSP00000293683:E842K;ENSP00000394754:E807K;ENSP00000341007:E629K	ENSP00000293683:E842K	E	+	1	0	PDE4A	10439238	0.082000	0.21442	0.001000	0.08648	0.065000	0.16274	1.439000	0.35013	0.380000	0.24823	0.298000	0.19748	GAG		0.692	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			32	42	0	0	0	0	32	42				
RGL3	57139	broad.mit.edu	37	19	11526779	11526779	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:11526779C>T	ENST00000380456.3	-	5	534	c.471G>A	c.(469-471)caG>caA	p.Q157Q	RGL3_ENST00000393423.3_Silent_p.Q157Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	157	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTCGGAAATCCTGAGGGTGGT	0.627																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2		NA																	0				ovary(1)	1						c.(469-471)CAG>CAA		ral guanine nucleotide dissociation																																				SO:0001819	synonymous_variant	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11526779C>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.471G>A	19.37:g.11526779C>T						RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Silent_p.Q157Q	p.Q157Q	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			5	535	-			157			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	c.471G>A	CCDS32910.1																																																																																				0.627	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		10	30	0	0	0	0	10	30				
ZNF627	199692	broad.mit.edu	37	19	11728614	11728614	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:11728614T>C	ENST00000361113.5	+	4	1504	c.1296T>C	c.(1294-1296)acT>acC	p.T432T	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GTCGATCCACTTACTTTCGAG	0.433																																					Melanoma(112;173 1614 10731 17751 23322)	uc002msk.2		NA																	0				skin(1)	1						c.(1294-1296)ACT>ACC		zinc finger protein 627							54.0	58.0	57.0					19																	11728614		2200	4299	6499	SO:0001819	synonymous_variant	199692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11728614T>C	AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.1296T>C	19.37:g.11728614T>C						ZNF627_uc010dyf.2_Silent_p.T322T	p.T432T	NM_145295	NP_660338	Q7L945	ZN627_HUMAN			4	1504	+			432			C2H2-type 11.		O14846|Q4KMP9|Q6NT81|Q9BRG4	Silent	SNP	ENST00000361113.5	37	c.1296T>C	CCDS42502.1																																																																																				0.433	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		20	31	0	0	0	0	20	31				
ZNF799	90576	broad.mit.edu	37	19	12502624	12502624	+	Silent	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:12502624A>C	ENST00000430385.3	-	4	788	c.588T>G	c.(586-588)ccT>ccG	p.P196P	ZNF799_ENST00000419318.1_Silent_p.P164P|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TACATTTATAAGGTCCATCTC	0.408																																						uc010dyt.2		NA																	0		p.Q196*(1)		breast(3)|ovary(2)|skin(1)	6						c.(586-588)CCT>CCG		zinc finger protein 799							67.0	69.0	68.0					19																	12502624		2203	4296	6499	SO:0001819	synonymous_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502624A>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.588T>G	19.37:g.12502624A>C						ZNF799_uc002mts.3_Intron	p.P196P	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN			4	738	-			196						Silent	SNP	ENST00000430385.3	37	c.588T>G	CCDS45989.1																																																																																				0.408	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		27	90	0	0	0	0	27	90				
JUNB	3726	broad.mit.edu	37	19	12902926	12902926	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:12902926G>A	ENST00000302754.4	+	1	617	c.341G>A	c.(340-342)gGg>gAg	p.G114E		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	114					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						TACCCCCGCGGGGGTGGCAGC	0.667																																						uc002mvc.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(340-342)GGG>GAG		jun B proto-oncogene							6.0	8.0	7.0					19																	12902926		2033	4049	6082	SO:0001583	missense	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12902926G>A	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.341G>A	19.37:g.12902926G>A	ENSP00000303315:p.Gly114Glu					JUNB_uc002mvb.2_RNA	p.G114E	NM_002229	NP_002220	P17275	JUNB_HUMAN			1	617	+			114					Q96GH3	Missense_Mutation	SNP	ENST00000302754.4	37	c.341G>A	CCDS12280.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113954	0.77210	.	.	ENSG00000171223	ENST00000302754	T	0.28454	1.61	4.68	4.68	0.58851	Jun-like transcription factor (1);	.	.	.	.	T	0.27278	0.0669	N	0.08118	0	0.44227	D	0.997063	D	0.58620	0.983	P	0.52646	0.705	T	0.18461	-1.0336	9	0.41790	T	0.15	-8.7243	16.3833	0.83489	0.0:0.0:1.0:0.0	.	114	P17275	JUNB_HUMAN	E	114	ENSP00000303315:G114E	ENSP00000303315:G114E	G	+	2	0	JUNB	12763926	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.432000	0.34936	2.147000	0.66899	0.549000	0.68633	GGG		0.667	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		4	11	0	0	0	0	4	11				
TRMT1	55621	broad.mit.edu	37	19	13223747	13223747	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:13223747G>A	ENST00000592062.1	-	7	1290	c.720C>T	c.(718-720)acC>acT	p.T240T	TRMT1_ENST00000221504.8_Silent_p.T240T|TRMT1_ENST00000592892.1_5'Flank|TRMT1_ENST00000357720.4_Silent_p.T240T|TRMT1_ENST00000437766.1_Silent_p.T240T			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	240	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CATCCAGGAAGGTGGCTGGGC	0.617																																						uc002mwj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(718-720)ACC>ACT		tRNA methyltransferase 1 isoform 1							86.0	76.0	80.0					19																	13223747		2203	4300	6503	SO:0001819	synonymous_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13223747G>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.720C>T	19.37:g.13223747G>A						TRMT1_uc002mwk.2_Silent_p.T240T|TRMT1_uc002mwl.3_Silent_p.T240T|TRMT1_uc010xmz.1_Silent_p.T26T	p.T240T	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	5	970	-			240					O76103|Q548Y5|Q8WVA6	Silent	SNP	ENST00000592062.1	37	c.720C>T	CCDS12293.1																																																																																				0.617	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		5	30	0	0	0	0	5	30				
DCAF15	90379	broad.mit.edu	37	19	14070848	14070849	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:14070848_14070849CC>TT	ENST00000254337.6	+	10	1514_1515	c.1493_1494CC>TT	c.(1492-1494)gCC>gTT	p.A498V		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	498					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CTGCTCCTGGCCTTCCCGTCCC	0.653											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mxt.2		NA																	0				central_nervous_system(1)	1						c.(1492-1494)GCC>GTT		DDB1 and CUL4 associated factor 15																																				SO:0001583	missense	90379							g.chr19:14070848_14070849CC>TT	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		Exception_encountered	19.37:g.14070848_14070849delinsTT	ENSP00000254337:p.Ala498Val		OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692	DCAF15_uc002mxu.2_RNA	p.A498V	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			10	1499_1500	+			498					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	DNP	ENST00000254337.6	37	c.1493_1494CC>TT	CCDS32926.1																																																																																				0.653	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		7	28	0	0	0	0	7	28				
PKN1	5585	broad.mit.edu	37	19	14554311	14554311	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:14554311C>T	ENST00000242783.6	+	3	517	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	PKN1_ENST00000342216.4_Missense_Mutation_p.P124S|PKN1_ENST00000587429.1_3'UTR	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	118					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGCGGGTGGCCCCACCTGCTC	0.662																																					NSCLC(185;2539 2965 10733 52867)	uc002myp.2		NA																	0				ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(352-354)CCC>TCC		protein kinase N1 isoform 2							41.0	52.0	48.0					19																	14554311		2172	4280	6452	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14554311C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.352C>T	19.37:g.14554311C>T	ENSP00000242783:p.Pro118Ser					PKN1_uc002myq.2_Missense_Mutation_p.P124S	p.P118S	NM_002741	NP_002732	Q16512	PKN1_HUMAN			3	520	+			118					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.352C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	6.428	0.447185	0.12223	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.64085	-0.07;-0.08	3.28	-0.286	0.12862	.	0.527164	0.17911	N	0.157851	T	0.40862	0.1134	L	0.32530	0.975	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22487	-1.0215	10	0.09338	T	0.73	-39.2429	6.6098	0.22745	0.0:0.5233:0.0:0.4767	.	124;118	Q16512-2;Q16512	.;PKN1_HUMAN	S	118;124	ENSP00000242783:P118S;ENSP00000343325:P124S	ENSP00000242783:P118S	P	+	1	0	PKN1	14415311	0.000000	0.05858	0.001000	0.08648	0.114000	0.19823	0.021000	0.13489	-0.074000	0.12820	0.491000	0.48974	CCC		0.662	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		6	11	0	0	0	0	6	11				
C19orf44	84167	broad.mit.edu	37	19	16611992	16611992	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:16611992G>A	ENST00000221671.3	+	2	545	c.389G>A	c.(388-390)aGa>aAa	p.R130K	C19orf44_ENST00000594035.1_Missense_Mutation_p.R130K|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	130										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTTCCAAAGAGAGCTGACAGA	0.527																																						uc002neh.1		NA																	0					0						c.(388-390)AGA>AAA		hypothetical protein LOC84167							56.0	62.0	60.0					19																	16611992		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16611992G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.389G>A	19.37:g.16611992G>A	ENSP00000221671:p.Arg130Lys					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.R130K|C19orf44_uc002neg.2_Missense_Mutation_p.R130K|C19orf44_uc010eai.1_RNA	p.R130K	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			2	462	+			130					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.389G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291466	0.23564	.	.	ENSG00000105072	ENST00000221671	.	.	.	3.74	-4.45	0.03546	.	1.691970	0.03480	N	0.214973	T	0.32285	0.0824	L	0.50333	1.59	0.09310	N	1	P;P	0.50819	0.884;0.939	B;P	0.50934	0.426;0.654	T	0.40961	-0.9535	9	0.07325	T	0.83	0.0094	2.4079	0.04417	0.1902:0.4147:0.2543:0.1407	.	130;130	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	K	130	.	ENSP00000221671:R130K	R	+	2	0	C19orf44	16472992	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.511000	0.22739	-0.680000	0.05211	-1.710000	0.00715	AGA		0.527	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		10	30	0	0	0	0	10	30				
C19orf44	84167	broad.mit.edu	37	19	16612055	16612055	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:16612055C>T	ENST00000221671.3	+	2	608	c.452C>T	c.(451-453)tCc>tTc	p.S151F	C19orf44_ENST00000594035.1_Missense_Mutation_p.S151F|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	151										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GACAAAACTTCCCAGAATCAA	0.483																																						uc002neh.1		NA																	0					0						c.(451-453)TCC>TTC		hypothetical protein LOC84167							72.0	75.0	74.0					19																	16612055		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16612055C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.452C>T	19.37:g.16612055C>T	ENSP00000221671:p.Ser151Phe					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S151F|C19orf44_uc002neg.2_Missense_Mutation_p.S151F|C19orf44_uc010eai.1_RNA	p.S151F	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			2	525	+			151					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.452C>T	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	9.350	1.065270	0.20067	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.5	2.34	0.29019	.	1.014750	0.07920	N	0.975723	T	0.33876	0.0878	L	0.42245	1.32	0.09310	N	1	B;B	0.23128	0.005;0.08	B;B	0.23716	0.011;0.048	T	0.31530	-0.9940	9	0.40728	T	0.16	-3.2881	4.8642	0.13600	0.0:0.6322:0.0:0.3678	.	151;151	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	F	151	.	ENSP00000221671:S151F	S	+	2	0	C19orf44	16473055	0.007000	0.16637	0.037000	0.18230	0.059000	0.15707	0.910000	0.28571	0.375000	0.24679	0.561000	0.74099	TCC		0.483	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		24	21	0	0	0	0	24	21				
CPAMD8	27151	broad.mit.edu	37	19	17104264	17104264	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:17104264G>A	ENST00000443236.1	-	12	1400	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	CPAMD8_ENST00000388925.4_Missense_Mutation_p.P410S	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	410						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGATGGAGGGGATTTCAAAC	0.577																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(1369-1371)CCC>TCC		C3 and PZP-like, alpha-2-macroglobulin domain							62.0	62.0	62.0					19																	17104264		2003	4169	6172	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17104264G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1369C>T	19.37:g.17104264G>A	ENSP00000402505:p.Pro457Ser						p.P457S	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			12	1401	-			410					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.1369C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598692	0.66332	.	.	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.53857	0.6;0.63	2.86	2.86	0.33363	.	0.000000	0.64402	D	0.000003	T	0.66528	0.2798	M	0.62723	1.935	0.48341	D	0.999634	D	0.89917	1.0	D	0.87578	0.998	T	0.64984	-0.6278	10	0.27785	T	0.31	.	13.9911	0.64367	0.0:0.0:1.0:0.0	.	410	Q8IZJ3	CPMD8_HUMAN	S	457;410	ENSP00000291440:P457S;ENSP00000373577:P410S	ENSP00000291440:P457S	P	-	1	0	CPAMD8	16965264	1.000000	0.71417	0.991000	0.47740	0.650000	0.38633	7.958000	0.87877	1.330000	0.45394	0.655000	0.94253	CCC		0.577	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		8	19	0	0	0	0	8	19				
PLVAP	83483	broad.mit.edu	37	19	17476205	17476205	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:17476205C>T	ENST00000252590.4	-	3	1130	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	357					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGTCTCGTTCCTTCCGCAGC	0.622																																						uc002ngk.1		NA																	0					0						c.(1069-1071)GAA>AAA		plasmalemma vesicle associated protein							98.0	84.0	89.0					19																	17476205		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476205C>T	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1069G>A	19.37:g.17476205C>T	ENSP00000252590:p.Glu357Lys						p.E357K	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	1119	-			357			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.1069G>A	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014166	0.54468	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.31	4.25	0.50352	.	0.453160	0.23277	N	0.049942	T	0.43722	0.1260	L	0.29908	0.895	0.22947	N	0.998523	D	0.53312	0.959	P	0.55999	0.789	T	0.23583	-1.0184	9	0.35671	T	0.21	-31.626	11.6233	0.51130	0.0:0.8118:0.1882:0.0	.	357	Q9BX97	PLVAP_HUMAN	K	357	.	ENSP00000252590:E357K	E	-	1	0	PLVAP	17337205	0.866000	0.29940	0.635000	0.29338	0.122000	0.20287	2.242000	0.43106	1.199000	0.43173	0.462000	0.41574	GAA		0.622	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		38	38	0	0	0	0	38	38				
MAP1S	55201	broad.mit.edu	37	19	17838435	17838435	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:17838435C>T	ENST00000324096.4	+	5	2393	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C	MAP1S_ENST00000544059.2_Missense_Mutation_p.R722C|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	748	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ATTTGAGCATCGCAAGGCGGT	0.701																																						uc002nhe.1		NA																	0				central_nervous_system(1)	1						c.(2242-2244)CGC>TGC		BPY2 interacting protein 1							24.0	21.0	22.0					19																	17838435		2199	4297	6496	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17838435C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2242C>T	19.37:g.17838435C>T	ENSP00000325313:p.Arg748Cys					MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_5'UTR|MAP1S_uc010xpv.1_Missense_Mutation_p.R722C	p.R748C	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			5	2251	+			748			Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.2242C>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117025	0.56505	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.18338	2.22;2.22	4.66	4.66	0.58398	.	0.133103	0.34046	N	0.004305	T	0.30634	0.0771	L	0.51422	1.61	0.51233	D	0.999916	D;D	0.76494	0.999;0.999	P;P	0.57960	0.83;0.83	T	0.01848	-1.1261	10	0.46703	T	0.11	-29.9385	15.0414	0.71793	0.0:1.0:0.0:0.0	.	722;748	B4DH53;Q66K74	.;MAP1S_HUMAN	C	748;722	ENSP00000325313:R748C;ENSP00000439243:R722C	ENSP00000325313:R748C	R	+	1	0	MAP1S	17699435	0.997000	0.39634	0.113000	0.21522	0.013000	0.08279	3.571000	0.53841	2.119000	0.64992	0.655000	0.94253	CGC		0.701	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		5	12	0	0	0	0	5	12				
IL12RB1	3594	broad.mit.edu	37	19	18182998	18182998	+	Silent	SNP	G	G	A	rs568768292		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:18182998G>A	ENST00000600835.2	-	10	1243	c.945C>T	c.(943-945)aaC>aaT	p.N315N	IL12RB1_ENST00000322153.7_Silent_p.N315N|IL12RB1_ENST00000593993.2_Silent_p.N315N			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	315	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TGACAGCCACGTTGTAGGCAG	0.617																																						uc002nhw.1		NA																	0				pancreas(1)	1						c.(943-945)AAC>AAT		interleukin 12 receptor, beta 1 isoform 1							111.0	78.0	89.0					19																	18182998		2203	4300	6503	SO:0001819	synonymous_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18182998G>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.945C>T	19.37:g.18182998G>A						IL12RB1_uc010xqb.1_Silent_p.N315N|IL12RB1_uc002nhx.1_Silent_p.N355N|IL12RB1_uc002nhy.2_Silent_p.N315N	p.N315N	NM_005535	NP_005526	P42701	I12R1_HUMAN			9	1009	-			315			Extracellular (Potential).|Fibronectin type-III 3.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.945C>T	CCDS54232.1																																																																																				0.617	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			12	21	0	0	0	0	12	21				
ISYNA1	51477	broad.mit.edu	37	19	18548556	18548556	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:18548556G>A	ENST00000338128.8	-	3	352	c.135C>T	c.(133-135)tcC>tcT	p.S45S	ISYNA1_ENST00000317018.6_5'UTR|ISYNA1_ENST00000457269.4_Intron|ISYNA1_ENST00000545187.1_Intron|ISYNA1_ENST00000578963.1_5'Flank	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	45					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TGAAGCGCGTGGACGTGGGGT	0.721																																						uc002njd.1		NA																	0				ovary(1)|pancreas(1)	2						c.(133-135)TCC>TCT		inositol-3-phosphate synthase 1							13.0	18.0	16.0					19																	18548556		2181	4282	6463	SO:0001819	synonymous_variant	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18548556G>A		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.135C>T	19.37:g.18548556G>A						ISYNA1_uc002nja.1_5'Flank|ISYNA1_uc002njb.1_5'UTR|ISYNA1_uc002njc.1_Intron|ISYNA1_uc010xqh.1_5'UTR|ISYNA1_uc002nje.1_Intron|ISYNA1_uc002njf.1_Intron	p.S45S	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN			3	185	-			45					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Silent	SNP	ENST00000338128.8	37	c.135C>T	CCDS12379.1																																																																																				0.721	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		3	4	0	0	0	0	3	4				
NCAN	1463	broad.mit.edu	37	19	19337547	19337547	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:19337547C>T	ENST00000252575.6	+	7	1424	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	442					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCCTCATGGCCCACTGGGGAA	0.622																																						uc002nlz.2		NA																	0				ovary(4)	4						c.(1324-1326)CCC>CTC		chondroitin sulfate proteoglycan 3 precursor							33.0	35.0	34.0					19																	19337547		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337547C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1325C>T	19.37:g.19337547C>T	ENSP00000252575:p.Pro442Leu					NCAN_uc010ecc.1_Missense_Mutation_p.P6L	p.P442L	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		7	1424	+			442					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1325C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435968	0.25813	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.83506	-1.73	5.11	3.0	0.34707	.	0.396270	0.18740	N	0.132497	T	0.68174	0.2972	L	0.29908	0.895	0.18873	N	0.999987	P;B	0.38148	0.62;0.01	B;B	0.32211	0.142;0.008	T	0.59616	-0.7421	10	0.41790	T	0.15	.	6.6126	0.22759	0.0:0.7904:0.0:0.2096	.	456;442	Q4LE67;O14594	.;NCAN_HUMAN	L	456;442	ENSP00000252575:P442L	ENSP00000252575:P442L	P	+	2	0	NCAN	19198547	0.000000	0.05858	0.038000	0.18304	0.310000	0.27922	0.145000	0.16157	1.160000	0.42584	0.561000	0.74099	CCC		0.622	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		4	17	0	0	0	0	4	17				
ZNF676	163223	broad.mit.edu	37	19	22363931	22363931	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:22363931G>A	ENST00000397121.2	-	3	905	c.588C>T	c.(586-588)ccC>ccT	p.P196P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	196					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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAGGGTTTCTCTC	0.348																																						uc002nqs.1		NA																	0					0						c.(586-588)CCC>CCT		zinc finger protein 676							51.0	55.0	54.0					19																	22363931		2066	4232	6298	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363931G>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.588C>T	19.37:g.22363931G>A							p.P196P	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	906	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	196					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.588C>T	CCDS42539.1																																																																																				0.348	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		33	43	0	0	0	0	33	43				
ZNF99	7652	broad.mit.edu	37	19	22940685	22940685	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:22940685G>A	ENST00000596209.1	-	4	2116	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S	ZNF99_ENST00000397104.3_Missense_Mutation_p.P585S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	676					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)				CATTTGTAGGGTTTCTCTTCA	0.368																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(1753-1755)CCC>TCC		zinc finger protein 99							48.0	51.0	50.0					19																	22940685		2133	4256	6389	SO:0001583	missense	7652							g.chr19:22940685G>A	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.2026C>T	19.37:g.22940685G>A	ENSP00000472969:p.Pro676Ser						p.P585S	NM_001080409	NP_001073878					5	1753	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1753C>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	12.22	1.872397	0.33069	.	.	ENSG00000213973	ENST00000397104	T	0.16743	2.32	1.29	1.29	0.21616	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25754	0.0627	L	0.48935	1.535	0.36759	D	0.883186	P	0.49253	0.921	P	0.57371	0.819	T	0.15665	-1.0429	9	0.45353	T	0.12	.	9.5079	0.39058	0.0:0.0:1.0:0.0	.	585	A8MXY4	ZNF99_HUMAN	S	585	ENSP00000380293:P585S	ENSP00000380293:P585S	P	-	1	0	ZNF99	22732525	0.222000	0.23652	0.097000	0.21041	0.040000	0.13550	1.360000	0.34125	0.680000	0.31366	0.400000	0.26472	CCC		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		21	22	0	0	0	0	21	22				
ZNF99	7652	broad.mit.edu	37	19	22941815	22941815	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:22941815T>G	ENST00000596209.1	-	4	986	c.896A>C	c.(895-897)cAc>cCc	p.H299P	ZNF99_ENST00000397104.3_Missense_Mutation_p.H208P	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	299					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)				TCTAGTAAGGTGTGAGGATTG	0.358																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(622-624)CAC>CCC		zinc finger protein 99							37.0	40.0	39.0					19																	22941815		2130	4254	6384	SO:0001583	missense	7652							g.chr19:22941815T>G	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.896A>C	19.37:g.22941815T>G	ENSP00000472969:p.His299Pro						p.H208P	NM_001080409	NP_001073878					5	623	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.623A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	3.784	-0.045025	0.07452	.	.	ENSG00000213973	ENST00000397104	T	0.13420	2.59	1.34	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15912	0.0383	L	0.60455	1.87	0.09310	N	1	P	0.43287	0.802	P	0.50490	0.642	T	0.17167	-1.0378	9	0.29301	T	0.29	.	0.4114	0.00441	0.2056:0.1655:0.2071:0.4219	.	208	A8MXY4	ZNF99_HUMAN	P	208	ENSP00000380293:H208P	ENSP00000380293:H208P	H	-	2	0	ZNF99	22733655	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.013000	0.01450	-0.253000	0.09514	0.370000	0.22315	CAC		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		16	40	0	0	0	0	16	40				
UQCRFS1	7386	broad.mit.edu	37	19	29698650	29698650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:29698650C>T	ENST00000304863.4	-	2	1052	c.630G>A	c.(628-630)tgG>tgA	p.W210*		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	210	Rieske. {ECO:0000255|PROSITE- ProRule:PRU00628}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TCAGGATAACCCATTCAGGTT	0.453																																						uc002nsd.2		NA																	0					0						c.(628-630)TGG>TGA		ubiquinol-cytochrome c reductase, Rieske							86.0	91.0	90.0					19																	29698650		2203	4299	6502	SO:0001587	stop_gained	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698650C>T	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.630G>A	19.37:g.29698650C>T	ENSP00000306397:p.Trp210*						p.W210*	NM_006003	NP_005994	P47985	UCRI_HUMAN	Lung(7;0.092)		2	741	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		210			Rieske.		A8K519|Q6NVX5|Q9UPH2	Nonsense_Mutation	SNP	ENST00000304863.4	37	c.630G>A	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423647	0.43020	.	.	ENSG00000169021	ENST00000304863	.	.	.	5.42	3.28	0.37604	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3868	0.38347	0.1443:0.7807:0.0:0.075	.	.	.	.	X	210	.	ENSP00000306397:W210X	W	-	3	0	UQCRFS1	34390490	1.000000	0.71417	0.087000	0.20705	0.010000	0.07245	4.619000	0.61218	0.643000	0.30638	0.462000	0.41574	TGG		0.453	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		45	146	0	0	0	0	45	146				
URI1	8725	broad.mit.edu	37	19	30503326	30503326	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:30503326T>G	ENST00000542441.2	+	10	1610	c.1313T>G	c.(1312-1314)tTg>tGg	p.L438W	URI1_ENST00000392271.1_Missense_Mutation_p.L362W|URI1_ENST00000312051.6_Missense_Mutation_p.L398W|URI1_ENST00000360605.4_Missense_Mutation_p.L420W			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	438					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										CGGGGAGTTTTGAGGAGTATC	0.453																																						uc002nsr.2		NA																	0				ovary(1)|kidney(1)	2						c.(1312-1314)TTG>TGG		RPB5-mediating protein isoform a							108.0	102.0	104.0					19																	30503326		2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30503326T>G	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1313T>G	19.37:g.30503326T>G	ENSP00000442436:p.Leu438Trp					C19orf2_uc002nsq.2_Missense_Mutation_p.L420W|C19orf2_uc002nss.2_Missense_Mutation_p.L398W|C19orf2_uc002nst.2_Missense_Mutation_p.L362W	p.L438W	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	10	1343	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	438					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.1313T>G	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179590	0.57800	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T	0.51071	0.72	5.64	4.63	0.57726	.	0.381504	0.26166	N	0.025945	T	0.53834	0.1821	L	0.50333	1.59	0.28464	N	0.915735	D;D;D	0.71674	0.997;0.995;0.998	P;P;P	0.58660	0.843;0.701;0.804	T	0.52185	-0.8609	10	0.62326	D	0.03	-3.608	7.4256	0.27096	0.1348:0.0716:0.0:0.7937	.	398;438;435	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	W	436;362;438;398	ENSP00000442436:L438W	ENSP00000312530:L398W	L	+	2	0	C19orf2	35195166	1.000000	0.71417	0.077000	0.20336	0.019000	0.09904	4.069000	0.57541	0.967000	0.38186	0.477000	0.44152	TTG		0.453	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		17	54	0	0	0	0	17	54				
RHPN2	85415	broad.mit.edu	37	19	33493156	33493156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:33493156G>A	ENST00000254260.3	-	9	1137	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	RHPN2_ENST00000400226.4_Nonsense_Mutation_p.Q217*	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	368	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCCTTACCCTGGTGGTCGATG	0.632																																						uc002nuf.2		NA																	0				central_nervous_system(5)|ovary(1)	6						c.(1102-1104)CAG>TAG		rhophilin, Rho GTPase binding protein 2							32.0	29.0	30.0					19																	33493156		2203	4300	6503	SO:0001587	stop_gained	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33493156G>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1102C>T	19.37:g.33493156G>A	ENSP00000254260:p.Gln368*					RHPN2_uc010xro.1_Nonsense_Mutation_p.Q217*|RHPN2_uc002nue.2_Nonsense_Mutation_p.Q98*	p.Q368*	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN			9	1168	-	Esophageal squamous(110;0.137)		368			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Nonsense_Mutation	SNP	ENST00000254260.3	37	c.1102C>T	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	G	39	7.895651	0.98548	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	.	.	.	4.61	3.54	0.40534	.	0.107759	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	13.3461	0.60573	0.0:0.3236:0.6764:0.0	.	.	.	.	X	368;98;217	.	ENSP00000254260:Q368X	Q	-	1	0	RHPN2	38184996	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	2.589000	0.46145	1.005000	0.39183	0.455000	0.32223	CAG		0.632	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		8	17	0	0	0	0	8	17				
CHST8	64377	broad.mit.edu	37	19	34262944	34262944	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:34262944C>T	ENST00000262622.4	+	4	1009	c.251C>T	c.(250-252)cCg>cTg	p.P84L	CHST8_ENST00000438847.3_Missense_Mutation_p.P84L|CHST8_ENST00000434302.1_Missense_Mutation_p.P84L	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	84					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGTGGGGCCCCGAGGGGCCGC	0.672																																						uc002nus.3		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(250-252)CCG>CTG		carbohydrate (N-acetylgalactosamine 4-0)							21.0	29.0	27.0					19																	34262944		2201	4295	6496	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34262944C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.251C>T	19.37:g.34262944C>T	ENSP00000262622:p.Pro84Leu					CHST8_uc002nut.3_Missense_Mutation_p.P84L|CHST8_uc002nuu.2_Missense_Mutation_p.P84L	p.P84L	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			5	756	+	Esophageal squamous(110;0.162)		84			Lumenal (Potential).		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.251C>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616409	0.46736	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.77877	-1.13;-1.13;-1.13	4.93	3.82	0.43975	.	0.790406	0.11425	N	0.565367	T	0.63224	0.2493	L	0.29908	0.895	0.09310	N	0.999997	D	0.58268	0.982	B	0.41571	0.36	T	0.52953	-0.8506	10	0.06757	T	0.87	-19.0545	11.6975	0.51553	0.1777:0.8223:0.0:0.0	.	84	Q9H2A9	CHST8_HUMAN	L	84	ENSP00000392604:P84L;ENSP00000393879:P84L;ENSP00000262622:P84L	ENSP00000262622:P84L	P	+	2	0	CHST8	38954784	0.011000	0.17503	0.029000	0.17559	0.014000	0.08584	2.021000	0.41020	2.272000	0.75746	0.478000	0.44815	CCG		0.672	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		7	38	0	0	0	0	7	38				
LSM14A	26065	broad.mit.edu	37	19	34710646	34710646	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:34710646G>A	ENST00000433627.5	+	8	1075	c.1000G>A	c.(1000-1002)Ggt>Agt	p.G334S	LSM14A_ENST00000540746.2_Missense_Mutation_p.G293S|LSM14A_ENST00000544216.3_Missense_Mutation_p.G334S	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	334					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GCCTGTAAATGGTGAAGATAA	0.358																																						uc002nvb.3		NA																	0				skin(1)	1						c.(1000-1002)GGT>AGT		LSM14 homolog A isoform a							55.0	53.0	54.0					19																	34710646		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710646G>A	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1000G>A	19.37:g.34710646G>A	ENSP00000413964:p.Gly334Ser					LSM14A_uc002nva.3_Missense_Mutation_p.G334S|LSM14A_uc010xru.1_Missense_Mutation_p.G293S|LSM14A_uc002nvc.3_Missense_Mutation_p.G140S	p.G334S	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN			8	1196	+	Esophageal squamous(110;0.162)		334					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.1000G>A	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	g	31	5.103948	0.94245	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.35236	1.32;1.32;1.34	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	P;D;D	0.97110	0.893;1.0;0.99	T	0.51926	-0.8643	10	0.33141	T	0.24	-15.186	20.4777	0.99188	0.0:0.0:1.0:0.0	.	293;334;334	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	S	334;334;293	ENSP00000446271:G334S;ENSP00000413964:G334S;ENSP00000446451:G293S	ENSP00000314768:G334S	G	+	1	0	LSM14A	39402486	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.285000	0.95894	2.840000	0.97914	0.655000	0.94253	GGT		0.358	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		9	20	0	0	0	0	9	20				
ZNF302	55900	broad.mit.edu	37	19	35175542	35175542	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35175542C>T	ENST00000446502.2	+	6	940	c.732C>T	c.(730-732)atC>atT	p.I244I	ZNF302_ENST00000505242.1_Silent_p.I200I|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Silent_p.I200I|ZNF302_ENST00000423823.2_Silent_p.I200I			Q9NR11	ZN302_HUMAN	zinc finger protein 302	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAGAAAATCTATACATGCA	0.413																																						uc002nvr.1		NA																	0					0						c.(730-732)ATC>ATT		zinc finger protein 302							92.0	100.0	97.0					19																	35175542		2142	4268	6410	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175542C>T	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.732C>T	19.37:g.35175542C>T						ZNF302_uc002nvp.1_Silent_p.I200I|ZNF302_uc002nvq.1_Silent_p.I200I|ZNF302_uc002nvs.1_Silent_p.I200I	p.I244I	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		6	995	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		279					Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.732C>T																																																																																					0.413	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			36	149	0	0	0	0	36	149				
ZNF792	126375	broad.mit.edu	37	19	35449808	35449808	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35449808T>C	ENST00000404801.1	-	4	1337	c.951A>G	c.(949-951)aaA>aaG	p.K317K	ZNF792_ENST00000605484.1_Silent_p.K250K	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCTGAAGAATTTTCCACATT	0.488																																					GBM(1;7 183 21053 22581 22847)	uc002nxh.1		NA																	0					0						c.(949-951)AAA>AAG		zinc finger protein 792							78.0	74.0	75.0					19																	35449808		2203	4300	6503	SO:0001819	synonymous_variant	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449808T>C	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.951A>G	19.37:g.35449808T>C							p.K317K	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1338	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		317			C2H2-type 4.		B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	c.951A>G	CCDS12440.2																																																																																				0.488	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		5	18	0	0	0	0	5	18				
FAM187B	148109	broad.mit.edu	37	19	35715962	35715962	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35715962G>A	ENST00000324675.3	-	2	924	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	292						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						ACTGGGCCACGAGCTCCTGCT	0.662																																						uc002nyk.1		NA																	0				ovary(2)	2						c.(874-876)CTC>CTT		family with sequence similarity 187, member B							24.0	27.0	26.0					19																	35715962		2203	4300	6503	SO:0001819	synonymous_variant	148109					integral to membrane		g.chr19:35715962G>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.876C>T	19.37:g.35715962G>A							p.L292L	NM_152481	NP_689694	Q17R55	F187B_HUMAN			2	921	-			292			Extracellular (Potential).		Q8N7G6	Silent	SNP	ENST00000324675.3	37	c.876C>T	CCDS12448.1																																																																																				0.662	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		8	33	0	0	0	0	8	33				
FFAR2	2867	broad.mit.edu	37	19	35941446	35941446	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35941446C>G	ENST00000599180.2	+	2	910	c.830C>G	c.(829-831)tCt>tGt	p.S277C	FFAR2_ENST00000246549.2_Missense_Mutation_p.S277C|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	277					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TATTTCTCTTCTTCAGTGGTG	0.582																																					GBM(40;139 809 9833 23358 48736)	uc002nzg.2		NA																	0				central_nervous_system(1)	1						c.(829-831)TCT>TGT		free fatty acid receptor 2							96.0	95.0	95.0					19																	35941446		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941446C>G	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.830C>G	19.37:g.35941446C>G	ENSP00000473159:p.Ser277Cys					FFAR2_uc010eea.2_Missense_Mutation_p.S277C	p.S277C	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	910	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		277			Cytoplasmic (Potential).		B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.830C>G	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587281	0.66105	.	.	ENSG00000126262	ENST00000246549	T	0.43688	0.94	5.65	5.65	0.86999	.	0.060249	0.64402	D	0.000002	T	0.64583	0.2611	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.65578	-0.6134	10	0.87932	D	0	-29.8584	17.5713	0.87935	0.0:1.0:0.0:0.0	.	277	O15552	FFAR2_HUMAN	C	277	ENSP00000246549:S277C	ENSP00000246549:S277C	S	+	2	0	FFAR2	40633286	1.000000	0.71417	0.554000	0.28268	0.176000	0.22953	7.401000	0.79962	2.826000	0.97356	0.563000	0.77884	TCT		0.582	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		32	107	0	0	0	0	32	107				
HSPB6	126393	broad.mit.edu	37	19	36250286	36250286	+	5'Flank	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36250286T>G	ENST00000592984.1	-	0	0				C19orf55_ENST00000421853.2_Intron|C19orf55_ENST00000544099.1_Missense_Mutation_p.F8C|HSPB6_ENST00000587965.1_5'Flank|C19orf55_ENST00000537459.1_Missense_Mutation_p.F8C|C19orf55_ENST00000536950.1_Missense_Mutation_p.F8C|C19orf55_ENST00000396908.4_Missense_Mutation_p.F8C|HSPB6_ENST00000004982.3_5'Flank			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCCAGTTTTCTCCATTCAA	0.592																																						uc002obq.1		NA																	0				ovary(1)	1						c.(22-24)TTC>TGC		hypothetical protein LOC148137							43.0	47.0	45.0					19																	36250286		1942	4140	6082	SO:0001631	upstream_gene_variant	148137							g.chr19:36250286T>G	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36250286T>G	Exception_encountered					HSPB6_uc002obn.1_5'Flank|C19orf55_uc002obp.2_Missense_Mutation_p.F8C|C19orf55_uc002obo.1_Missense_Mutation_p.F8C	p.F8C	NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	96	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		8					O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.23T>G	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.452749	0.43531	.	.	ENSG00000167595	ENST00000396908;ENST00000301165	T	0.38240	1.15	3.53	1.42	0.22433	.	0.910975	0.09053	N	0.855590	T	0.38427	0.1040	L	0.40543	1.245	0.09310	N	1	D;D;D	0.69078	0.997;0.99;0.99	P;P;P	0.53450	0.726;0.634;0.634	T	0.21930	-1.0231	10	0.87932	D	0	-2.0301	5.1714	0.15112	0.0:0.2506:0.0:0.7494	.	8;8;8	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	C	8	ENSP00000380116:F8C	ENSP00000301165:F8C	F	+	2	0	C19orf55	40942126	0.019000	0.18553	0.014000	0.15608	0.040000	0.13550	0.106000	0.15354	0.240000	0.21263	0.383000	0.25322	TTC		0.592	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		3	19	0	0	0	0	3	19				
KIRREL2	84063	broad.mit.edu	37	19	36351440	36351440	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36351440C>T	ENST00000360202.5	+	7	997	c.799C>T	c.(799-801)Ccg>Tcg	p.P267S	KIRREL2_ENST00000262625.7_Missense_Mutation_p.P267S|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P267S|KIRREL2_ENST00000347900.6_Missense_Mutation_p.P217S|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	267	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGGGGCTCTCCGGTGCTCGG	0.647																																						uc002ocb.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(799-801)CCG>TCG		kin of IRRE-like 2 isoform c							45.0	50.0	49.0					19																	36351440		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351440C>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.799C>T	19.37:g.36351440C>T	ENSP00000353331:p.Pro267Ser					KIRREL2_uc002obz.3_Missense_Mutation_p.P267S|KIRREL2_uc002oca.3_Missense_Mutation_p.P217S|KIRREL2_uc002occ.3_Missense_Mutation_p.P214S|KIRREL2_uc002ocd.3_Missense_Mutation_p.P264S	p.P267S	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1011	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		267			Ig-like C2-type 3.|Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.799C>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	c	14.78	2.636968	0.47049	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.12672	2.66;2.66;2.66	3.99	1.64	0.23874	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.592354	0.14191	N	0.335344	T	0.11665	0.0284	L	0.47016	1.485	0.30235	N	0.795568	B;B;B;B;B	0.18310	0.001;0.001;0.003;0.027;0.027	B;B;B;B;B	0.19666	0.011;0.007;0.026;0.025;0.025	T	0.10567	-1.0624	10	0.62326	D	0.03	-15.863	5.1458	0.14983	0.0:0.6713:0.2118:0.1168	.	267;247;267;217;267	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	S	267;217;267;247	ENSP00000262625:P267S;ENSP00000345067:P217S;ENSP00000353331:P267S	ENSP00000262625:P267S	P	+	1	0	KIRREL2	41043280	0.956000	0.32656	1.000000	0.80357	0.979000	0.70002	1.263000	0.33004	1.050000	0.40346	0.444000	0.29173	CCG		0.647	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		19	45	0	0	0	0	19	45				
KIRREL2	84063	broad.mit.edu	37	19	36353414	36353414	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36353414G>A	ENST00000360202.5	+	12	1728	c.1530G>A	c.(1528-1530)cgG>cgA	p.R510R	KIRREL2_ENST00000262625.7_Silent_p.R510R|KIRREL2_ENST00000592409.1_Intron|KIRREL2_ENST00000347900.6_Silent_p.R460R|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	510					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACTGTGCGGATAGTGGCCG	0.627																																						uc002ocb.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1528-1530)CGG>CGA		kin of IRRE-like 2 isoform c							114.0	116.0	115.0					19																	36353414		2203	4300	6503	SO:0001819	synonymous_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36353414G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1530G>A	19.37:g.36353414G>A						KIRREL2_uc002obz.3_Silent_p.R510R|KIRREL2_uc002oca.3_Silent_p.R460R|KIRREL2_uc002occ.3_Silent_p.R457R|KIRREL2_uc002ocd.3_Intron	p.R510R	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		12	1742	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		510			Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	c.1530G>A	CCDS12481.1																																																																																				0.627	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		30	131	0	0	0	0	30	131				
WDR62	284403	broad.mit.edu	37	19	36573968	36573968	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36573968C>T	ENST00000270301.7	+	11	1375	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	WDR62_ENST00000401500.2_Silent_p.L459L			O43379	WDR62_HUMAN	WD repeat domain 62	459					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCTGCAGACCCTGCTGAAGGT	0.552																																						uc002odc.2		NA																	0					0						c.(1375-1377)CTG>TTG		WD repeat domain 62 isoform 2							46.0	35.0	38.0					19																	36573968		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36573968C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1375C>T	19.37:g.36573968C>T						WDR62_uc002odd.2_Silent_p.L459L	p.L459L	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		11	1466	+	Esophageal squamous(110;0.162)		459					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.1375C>T	CCDS33001.1																																																																																				0.552	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		4	15	0	0	0	0	4	15				
ZNF420	147923	broad.mit.edu	37	19	37618342	37618342	+	Missense_Mutation	SNP	G	G	A	rs369789525		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:37618342G>A	ENST00000337995.3	+	5	664	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	ZNF420_ENST00000304239.7_Missense_Mutation_p.R150Q|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTTCAGACGAGCCTCACAC	0.398																																						uc002ofl.2		NA																	0					0						c.(448-450)CGA>CAA		zinc finger protein 420		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	70.0	71.0		449	2.4	1.0	19		71	0,8600		0,0,4300	no	missense	ZNF420	NM_144689.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	150/689	37618342	1,13005	2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618342G>A	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.449G>A	19.37:g.37618342G>A	ENSP00000338770:p.Arg150Gln						p.R150Q	NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	664	+			150			C2H2-type 1.		B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.449G>A	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	0.240	-1.014257	0.02095	2.27E-4	0.0	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.07444	3.19;3.19	3.54	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03053	0.0090	N	0.10664	0.02	0.23798	N	0.996819	B	0.14805	0.011	B	0.01281	0.0	T	0.46803	-0.9165	9	0.06365	T	0.9	.	3.7482	0.08556	0.1526:0.2612:0.5862:0.0	.	150	Q8TAQ5	ZN420_HUMAN	Q	150	ENSP00000306102:R150Q;ENSP00000338770:R150Q	ENSP00000306102:R150Q	R	+	2	0	ZNF420	42310182	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.761000	0.04751	1.797000	0.52628	0.655000	0.94253	CGA		0.398	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		12	45	0	0	0	0	12	45				
ZNF527	84503	broad.mit.edu	37	19	37880348	37880348	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:37880348G>A	ENST00000436120.2	+	5	1504	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	466					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)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCATACCGGAGAAAAGCCC	0.408																																						uc010efk.1		NA																	0				ovary(2)	2						c.(1396-1398)GGA>GAA		zinc finger protein 527							68.0	76.0	73.0					19																	37880348		2176	4283	6459	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880348G>A	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1397G>A	19.37:g.37880348G>A	ENSP00000390179:p.Gly466Glu					ZNF527_uc002ogf.3_Missense_Mutation_p.G434E|ZNF527_uc010xtq.1_RNA	p.G466E	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1508	+			466					B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1397G>A	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456497	0.63401	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.84	3.84	0.44239	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33572	N	0.004775	T	0.62816	0.2459	N	0.21324	0.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.68322	-0.5439	9	0.66056	D	0.02	.	14.6945	0.69110	0.0:0.0:1.0:0.0	.	466;434	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	E	466;434;414	.	ENSP00000325231:G434E	G	+	2	0	ZNF527	42572188	0.998000	0.40836	0.395000	0.26283	0.987000	0.75469	2.726000	0.47302	1.997000	0.58415	0.655000	0.94253	GGA		0.408	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		9	55	0	0	0	0	9	55				
ZNF607	84775	broad.mit.edu	37	19	38189304	38189304	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38189304G>A	ENST00000355202.4	-	5	2323	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.L575L	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CATGATATATGAGGCTTGTGG	0.403																																						uc002ohc.1		NA																	0					0						c.(1726-1728)CTC>CTT		zinc finger protein 607							45.0	42.0	43.0					19																	38189304		2203	4300	6503	SO:0001819	synonymous_variant	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189304G>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1728C>T	19.37:g.38189304G>A						ZNF607_uc002ohb.1_Silent_p.L575L	p.L576L	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	2324	-			576			C2H2-type 16.		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	c.1728C>T	CCDS33006.1																																																																																				0.403	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		10	36	0	0	0	0	10	36				
SIPA1L3	23094	broad.mit.edu	37	19	38655373	38655373	+	Silent	SNP	C	C	G	rs386352360		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38655373C>G	ENST00000222345.6	+	15	4544	c.4035C>G	c.(4033-4035)ggC>ggG	p.G1345G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1345					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTTTGTGGCGGGGGTCGCG	0.692																																						uc002ohk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(4033-4035)GGC>GGG		signal-induced proliferation-associated 1 like							30.0	27.0	28.0					19																	38655373		2201	4298	6499	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38655373C>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4035C>G	19.37:g.38655373C>G							p.G1345G	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		15	4544	+			1345					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.4035C>G	CCDS33007.1																																																																																				0.692	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		5	15	0	0	0	0	5	15				
CATSPERG	57828	broad.mit.edu	37	19	38847129	38847129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38847129C>T	ENST00000409235.3	+	10	1256	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	CATSPERG_ENST00000410018.1_Nonsense_Mutation_p.Q381*|CATSPERG_ENST00000215069.4_Intron	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	381					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGCAGATGGCCAGGTGTCCTT	0.607																																						uc002oih.3		NA																	0				ovary(1)|skin(1)	2						c.(1141-1143)CAG>TAG		cation channel, sperm-associated, gamma							159.0	122.0	135.0					19																	38847129		2203	4300	6503	SO:0001587	stop_gained	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38847129C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1141C>T	19.37:g.38847129C>T	ENSP00000386962:p.Gln381*					CATSPERG_uc002oig.3_Nonsense_Mutation_p.Q381*|CATSPERG_uc002oif.3_Nonsense_Mutation_p.Q21*|CATSPERG_uc010efw.2_RNA	p.Q381*	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			10	1228	+			381			Extracellular (Potential).		A6NEG6|Q659E1	Nonsense_Mutation	SNP	ENST00000409235.3	37	c.1141C>T	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	32	5.113381	0.94339	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	.	.	.	4.87	-0.286	0.12862	.	2.709810	0.00953	N	0.002991	.	.	.	.	.	.	0.25812	N	0.984382	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0735	7.2	0.25874	0.3212:0.3657:0.3131:0.0	.	.	.	.	X	381	.	ENSP00000386962:Q381X	Q	+	1	0	CATSPERG	43538969	0.045000	0.20229	0.277000	0.24703	0.344000	0.29017	0.032000	0.13732	0.293000	0.22520	-0.314000	0.08810	CAG		0.607	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		11	63	0	0	0	0	11	63				
CATSPERG	57828	broad.mit.edu	37	19	38858334	38858334	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38858334G>A	ENST00000409235.3	+	25	2963	c.2848G>A	c.(2848-2850)Gtg>Atg	p.V950M	CATSPERG_ENST00000410018.1_Missense_Mutation_p.V910M|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	950					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGTTCTGCTGGTGGTGGGTGG	0.607																																						uc002oih.3		NA																	0				ovary(1)|skin(1)	2						c.(2848-2850)GTG>ATG		cation channel, sperm-associated, gamma							262.0	283.0	276.0					19																	38858334		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858334G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2848G>A	19.37:g.38858334G>A	ENSP00000386962:p.Val950Met					CATSPERG_uc002oig.3_Missense_Mutation_p.V910M|CATSPERG_uc002oif.3_Missense_Mutation_p.V590M|CATSPERG_uc010efw.2_RNA	p.V950M	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			25	2935	+			950			Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2848G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328516	0.41197	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.40476	1.03;1.03	3.99	3.99	0.46301	.	0.000000	0.36972	N	0.002301	T	0.52025	0.1709	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.911	T	0.55075	-0.8197	10	0.87932	D	0	-23.5277	11.4605	0.50208	0.0:0.0:1.0:0.0	.	950;910	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	M	910;950;950	ENSP00000387057:V910M;ENSP00000386962:V950M	ENSP00000386962:V950M	V	+	1	0	CATSPERG	43550174	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	2.973000	0.49264	2.039000	0.60335	0.484000	0.47621	GTG		0.607	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		68	251	0	0	0	0	68	251				
PSMD8	5714	broad.mit.edu	37	19	38871607	38871607	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38871607C>T	ENST00000215071.4	+	5	837	c.771C>T	c.(769-771)acC>acT	p.T257T	PSMD8_ENST00000592035.1_Silent_p.T90T|PSMD8_ENST00000602911.1_Silent_p.T194T	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	257					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of 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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGAGCTACACCTTCTTCATTG	0.572																																						uc002oii.3		NA																	0				central_nervous_system(1)	1						c.(769-771)ACC>ACT		proteasome 26S non-ATPase subunit 8							49.0	36.0	40.0					19																	38871607		2203	4299	6502	SO:0001819	synonymous_variant	5714				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding	g.chr19:38871607C>T	D38047	CCDS12515.2	19q13.2	2009-05-07			ENSG00000099341	ENSG00000099341		"""Proteasome (prosome, macropain) subunits"""	9566	protein-coding gene	gene with protein product						7621825	Standard	NM_002812		Approved	S14, Nin1p, p31, HIP6, HYPF, Rpn12	uc002oii.4	P48556	OTTHUMG00000150691	ENST00000215071.4:c.771C>T	19.37:g.38871607C>T						PSMD8_uc010efx.1_Silent_p.T90T	p.T257T	NM_002812	NP_002803	P48556	PSMD8_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	823	+	all_cancers(60;3.4e-06)		257					B4DX18|Q6P1L7	Silent	SNP	ENST00000215071.4	37	c.771C>T	CCDS12515.2																																																																																				0.572	PSMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319627.1	NM_002812		3	7	0	0	0	0	3	7				
GGN	199720	broad.mit.edu	37	19	38877078	38877078	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38877078C>T	ENST00000334928.6	-	3	956	c.824G>A	c.(823-825)gGc>gAc	p.G275D	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	275	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCAAAGAGGCCGCCGCCTCC	0.647																																						uc002oij.1		NA																	0					0						c.(823-825)GGC>GAC		gametogenetin							15.0	19.0	17.0					19																	38877078		2116	4156	6272	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38877078C>T	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.824G>A	19.37:g.38877078C>T	ENSP00000334940:p.Gly275Asp					GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.G192D	p.G275D	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	959	-	all_cancers(60;3.4e-06)		275			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.824G>A	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977346	0.34848	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.09	3.09	0.35607	.	.	.	.	.	T	0.46776	0.1410	L	0.27053	0.805	0.23620	N	0.997275	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.24941	-1.0146	8	0.25751	T	0.34	-1.0531	9.4575	0.38764	0.0:1.0:0.0:0.0	.	192;275	Q86UU5-2;Q86UU5	.;GGN_HUMAN	D	275	.	ENSP00000334940:G275D	G	-	2	0	GGN	43568918	0.050000	0.20438	0.833000	0.33012	0.687000	0.40016	1.423000	0.34837	1.532000	0.49169	0.462000	0.41574	GGC		0.647	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		11	35	0	0	0	0	11	35				
SIRT2	22933	broad.mit.edu	37	19	39369801	39369801	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39369801G>A	ENST00000249396.7	-	16	1465	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	SIRT2_ENST00000358931.5_3'UTR|RINL_ENST00000591812.1_5'Flank|SIRT2_ENST00000392081.2_Silent_p.P351P|RINL_ENST00000598904.1_5'Flank|RINL_ENST00000340740.3_5'Flank	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	388					autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GCTGTCACTGGGGTTTCTCCC	0.657																																						uc002ojt.1		NA																	0					0						c.(1162-1164)CCC>CCT		sirtuin 2 isoform 1							70.0	64.0	66.0					19																	39369801		2203	4300	6503	SO:0001819	synonymous_variant	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39369801G>A	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.1164C>T	19.37:g.39369801G>A						RINL_uc002ojq.2_5'Flank|RINL_uc010xuo.1_5'Flank|SIRT2_uc010egh.1_3'UTR|SIRT2_uc010egi.1_Silent_p.P351P|SIRT2_uc002ojs.1_Silent_p.P368P|SIRT2_uc002oju.1_Silent_p.P351P|SIRT2_uc010egj.1_Silent_p.P351P|SIRT2_uc002ojv.1_Silent_p.P386P	p.P388P	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		16	1364	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		388					A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Silent	SNP	ENST00000249396.7	37	c.1164C>T	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	G	1.731	-0.494228	0.04322	.	.	ENSG00000068903	ENST00000456703	.	.	.	4.52	1.03	0.20045	.	1.066140	0.07399	N	0.890498	T	0.52208	0.1720	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35351	-0.9792	6	0.29301	T	0.29	-19.1967	6.5686	0.22525	0.0846:0.0:0.4567:0.4587	.	.	.	.	S	373	.	ENSP00000400725:P373S	P	-	1	0	SIRT2	44061641	0.998000	0.40836	0.785000	0.31869	0.107000	0.19398	1.190000	0.32126	0.105000	0.17753	-0.435000	0.05868	CCA		0.657	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			17	32	0	0	0	0	17	32				
PAK4	10298	broad.mit.edu	37	19	39664427	39664427	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39664427C>T	ENST00000593690.1	+	6	1302	c.875C>T	c.(874-876)cCa>cTa	p.P292L	PAK4_ENST00000599470.1_Missense_Mutation_p.P139L|PAK4_ENST00000321944.4_Missense_Mutation_p.P202L|PAK4_ENST00000599386.1_Missense_Mutation_p.P139L|PAK4_ENST00000358301.3_Missense_Mutation_p.P292L|PAK4_ENST00000435673.2_Missense_Mutation_p.P292L|PAK4_ENST00000360442.3_Missense_Mutation_p.P292L	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	292	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCCCGCTCACCACAGCGGGAG	0.711																																						uc002okj.1		NA																	0				lung(3)|ovary(1)	4						c.(874-876)CCA>CTA		p21-activated kinase 4 isoform 1							10.0	11.0	11.0					19																	39664427		2187	4279	6466	SO:0001583	missense	10298				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39664427C>T	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.875C>T	19.37:g.39664427C>T	ENSP00000469413:p.Pro292Leu					PAK4_uc002okl.1_Missense_Mutation_p.P292L|PAK4_uc002okn.1_Missense_Mutation_p.P292L|PAK4_uc002okm.1_Missense_Mutation_p.P139L|PAK4_uc002oko.1_Missense_Mutation_p.P139L|PAK4_uc002okp.1_Missense_Mutation_p.P202L	p.P292L	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		6	1336	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		292			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	c.875C>T	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	c	6.853	0.526605	0.13066	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	T;T;T;T	0.72942	-0.7;-0.69;-0.7;-0.7	4.26	2.1	0.27182	.	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	L	0.60455	1.87	0.80722	D	1	P;B;B	0.47253	0.892;0.009;0.028	B;B;B	0.40375	0.327;0.009;0.009	T	0.58853	-0.7563	10	0.49607	T	0.09	.	7.2453	0.26119	0.0:0.7293:0.1729:0.0978	.	202;139;292	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	L	292;139;96;48;292;292	ENSP00000351049:P292L;ENSP00000326864:P139L;ENSP00000392753:P292L;ENSP00000353625:P292L	ENSP00000326864:P139L	P	+	2	0	PAK4	44356267	0.081000	0.21417	0.370000	0.25965	0.000000	0.00434	1.999000	0.40806	0.433000	0.26313	-0.315000	0.08773	CCA		0.711	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			6	10	0	0	0	0	6	10				
NCCRP1	342897	broad.mit.edu	37	19	39691262	39691262	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39691262C>T	ENST00000339852.4	+	6	716	c.694C>T	c.(694-696)Cac>Tac	p.H232Y		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	232	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						ACAGGTGTCCCACGTATTCCG	0.602																																					Melanoma(107;1207 1556 14956 29427 52130)	uc002okq.1		NA																	0				ovary(1)	1						c.(694-696)CAC>TAC		non-specific cytotoxic cell receptor protein 1							153.0	129.0	137.0					19																	39691262		2203	4300	6503	SO:0001583	missense	342897				protein catabolic process			g.chr19:39691262C>T	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.694C>T	19.37:g.39691262C>T	ENSP00000342137:p.His232Tyr						p.H232Y	NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN			6	713	+			232			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.694C>T	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151601	0.78001	.	.	ENSG00000188505	ENST00000339852	T	0.37915	1.17	5.13	5.13	0.70059	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	M	0.66297	2.02	0.58432	D	0.999995	D	0.76494	0.999	D	0.87578	0.998	T	0.60449	-0.7261	10	0.54805	T	0.06	-32.5789	16.0604	0.80836	0.0:1.0:0.0:0.0	.	232	Q6ZVX7	NCRP1_HUMAN	Y	232	ENSP00000342137:H232Y	ENSP00000342137:H232Y	H	+	1	0	NCCRP1	44383102	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.858000	0.69532	2.402000	0.81655	0.484000	0.47621	CAC		0.602	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		34	102	0	0	0	0	34	102				
LRFN1	57622	broad.mit.edu	37	19	39804666	39804666	+	Silent	SNP	G	G	A	rs571879520		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39804666G>A	ENST00000248668.4	-	1	1310	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	437	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGATGAGCACGGAGTTCGAGG	0.642																																						uc002okw.2		NA																	0				ovary(2)	2						c.(1309-1311)TCC>TCT		leucine rich repeat and fibronectin type III							31.0	37.0	35.0					19																	39804666		2063	4201	6264	SO:0001819	synonymous_variant	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39804666G>A	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1311C>T	19.37:g.39804666G>A							p.S437S	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	1311	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		437			Fibronectin type-III.|Extracellular (Potential).		Q8TBS9	Silent	SNP	ENST00000248668.4	37	c.1311C>T	CCDS46071.1																																																																																				0.642	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		11	28	0	0	0	0	11	28				
MED29	55588	broad.mit.edu	37	19	39880374	39880374	+	5'Flank	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39880374C>T	ENST00000599213.2	+	0	0				PAF1_ENST00000221266.7_Silent_p.L56L|MED29_ENST00000594368.1_5'Flank|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221265.3_Silent_p.L66L|PAF1_ENST00000595564.1_Silent_p.L56L			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCTGTTTCTCCAAGGAAGTGG	0.552																																						uc002old.2		NA																	0				pancreas(1)	1						c.(196-198)TTG>TTA		Paf1, RNA polymerase II associated factor,							198.0	173.0	182.0					19																	39880374		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39880374C>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880374C>T	Exception_encountered					PAF1_uc002ole.1_Silent_p.L56L|PAF1_uc010xuv.1_Intron|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	p.L66L	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		4	373	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		66					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37	c.198G>A																																																																																					0.552	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		29	158	0	0	0	0	29	158				
PLEKHG2	64857	broad.mit.edu	37	19	39915563	39915564	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39915563_39915564CC>TT	ENST00000409794.3	+	19	4640_4641	c.3790_3791CC>TT	c.(3790-3792)CCt>TTt	p.P1264F	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.P1235F|PLEKHG2_ENST00000458508.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1264					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TAGTCCCCCACCTTCCAGCCGT	0.604																																						uc010xuz.1		NA																	0				skin(2)|pancreas(1)|breast(1)	4						c.(3790-3792)CCT>TTT		common-site lymphoma/leukemia guanine nucleotide																																				SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39915563_39915564CC>TT	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	Exception_encountered	19.37:g.39915563_39915564delinsTT	ENSP00000386733:p.Pro1264Phe					PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.P1042F	p.P1264F	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		19	4115_4116	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		1264					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	DNP	ENST00000409794.3	37	c.3790_3791CC>TT	CCDS33022.2																																																																																				0.604	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		17	90	0	0	0	0	17	90				
LGALS13	29124	broad.mit.edu	37	19	40097949	40097949	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40097949C>A	ENST00000221797.4	+	4	435	c.390C>A	c.(388-390)atC>atA	p.I130I		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	130	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)	p.I130I(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CGAGAGATATCTCCCTGACCT	0.468																																						uc002omb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(388-390)ATC>ATA		galectin-13							185.0	139.0	154.0					19																	40097949		2203	4300	6503	SO:0001819	synonymous_variant	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40097949C>A	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.390C>A	19.37:g.40097949C>A							p.I130I	NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		4	430	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		130			Galectin.		C5HZ15	Silent	SNP	ENST00000221797.4	37	c.390C>A	CCDS33024.1																																																																																				0.468	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		32	50	1	0	8.17e-17	8.47e-17	32	50				
DYRK1B	9149	broad.mit.edu	37	19	40318203	40318203	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40318203A>C	ENST00000593685.1	-	7	1369	c.901T>G	c.(901-903)Tgc>Ggc	p.C301G	DYRK1B_ENST00000430012.2_Missense_Mutation_p.C301G|DYRK1B_ENST00000348817.3_Missense_Mutation_p.C301G|DYRK1B_ENST00000597639.1_Missense_Mutation_p.C301G|DYRK1B_ENST00000323039.5_Missense_Mutation_p.C301G			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ACAAGGATGCAGCCCAGGGAC	0.612																																						uc002omj.2		NA																	0				ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7						c.(901-903)TGC>GGC		dual-specificity tyrosine-(Y)-phosphorylation							65.0	58.0	61.0					19																	40318203		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40318203A>C	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.901T>G	19.37:g.40318203A>C	ENSP00000469863:p.Cys301Gly					DYRK1B_uc002omi.2_Missense_Mutation_p.C301G|DYRK1B_uc002omk.2_Missense_Mutation_p.C301G	p.C301G	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		7	1181	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		301			Protein kinase.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.901T>G	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080800	0.76528	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.23754	1.89;1.89;1.89	4.69	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053766	0.85682	D	0.000000	T	0.63651	0.2529	H	0.96805	3.885	0.80722	D	1	D;D;D	0.62365	0.99;0.991;0.99	D;D;D	0.87578	0.976;0.998;0.959	T	0.75569	-0.3272	10	0.87932	D	0	.	12.0923	0.53733	1.0:0.0:0.0:0.0	.	301;301;301	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	G	301	ENSP00000312789:C301G;ENSP00000221803:C301G;ENSP00000403182:C301G	ENSP00000312789:C301G	C	-	1	0	DYRK1B	45010043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.470000	0.80973	1.747000	0.51819	0.374000	0.22700	TGC		0.612	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		4	45	0	0	0	0	4	45				
ZNF546	339327	broad.mit.edu	37	19	40520411	40520412	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40520411_40520412CC>TT	ENST00000347077.4	+	7	1450_1451	c.1234_1235CC>TT	c.(1234-1236)CCc>TTc	p.P412F	ZNF546_ENST00000600094.1_Missense_Mutation_p.P386F|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTGAAAAACCCTACGAATGT	0.381																																						uc002oms.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1234-1236)CCC>TTC		zinc finger protein 546																																				SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520411_40520412CC>TT	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		Exception_encountered	19.37:g.40520411_40520412delinsTT	ENSP00000339823:p.Pro412Phe					ZNF546_uc002omt.2_Missense_Mutation_p.P386F	p.P412F	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN			7	1490_1491	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		412					A8K913	Missense_Mutation	DNP	ENST00000347077.4	37	c.1234_1235CC>TT	CCDS12548.1																																																																																				0.381	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		19	27	0	0	0	0	19	27				
AKT2	208	broad.mit.edu	37	19	40762855	40762855	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40762855G>A	ENST00000392038.2	-	3	451	c.153C>T	c.(151-153)ccC>ccT	p.P51P	AKT2_ENST00000311278.6_Silent_p.P51P|AKT2_ENST00000424901.1_Silent_p.P51P|AKT2_ENST00000579047.1_5'UTR	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	51	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			AGTTGTTTAAGGGGGGTAGAG	0.572			A		"""ovarian, pancreatic """																																	uc002onf.2		NA		Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			ovarian|pancreatic 		0				lung(2)	2						c.(151-153)CCC>CCT		AKT2 kinase							99.0	93.0	95.0					19																	40762855		2203	4300	6503	SO:0001819	synonymous_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40762855G>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.153C>T	19.37:g.40762855G>A						AKT2_uc010egs.2_Silent_p.P51P|AKT2_uc010egt.2_5'UTR|AKT2_uc010xvj.1_5'UTR|AKT2_uc010egu.1_5'UTR|AKT2_uc010xvk.1_Silent_p.P51P	p.P51P	NM_001626	NP_001617	P31751	AKT2_HUMAN	Lung(22;0.000499)		3	415	-			51			PH.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	ENST00000392038.2	37	c.153C>T	CCDS12552.1																																																																																				0.572	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		11	49	0	0	0	0	11	49				
PRX	57716	broad.mit.edu	37	19	40900834	40900834	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40900834C>T	ENST00000324001.7	-	7	3695	c.3425G>A	c.(3424-3426)gGg>gAg	p.G1142E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1142	Glu-rich (acidic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATCCTCAGCCCCGCGTCATG	0.667																																						uc002onr.2		NA																	0				ovary(2)	2						c.(3424-3426)GGG>GAG		periaxin isoform 2							48.0	44.0	45.0					19																	40900834		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900834C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3425G>A	19.37:g.40900834C>T	ENSP00000326018:p.Gly1142Glu					PRX_uc002onq.2_Missense_Mutation_p.G1003E|PRX_uc002ons.2_3'UTR	p.G1142E	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3694	-			1142			Glu-rich (acidic).		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.3425G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.246979	0.00271	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01025	5.43	4.9	-9.81	0.00487	.	1.265160	0.05473	N	0.553350	T	0.00440	0.0014	N	0.12182	0.205	0.09310	N	1	B	0.14438	0.01	B	0.15484	0.013	T	0.49485	-0.8935	10	0.05351	T	0.99	-0.7997	2.4	0.04399	0.3236:0.0982:0.3852:0.193	.	1142	Q9BXM0	PRAX_HUMAN	E	1142;1077	ENSP00000326018:G1142E	ENSP00000326018:G1142E	G	-	2	0	PRX	45592674	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-3.661000	0.00400	-1.888000	0.01113	-0.500000	0.04577	GGG		0.667	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		10	39	0	0	0	0	10	39				
CYP2F1	1572	broad.mit.edu	37	19	41622463	41622463	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:41622463G>A	ENST00000331105.2	+	3	347	c.275G>A	c.(274-276)gGa>gAa	p.G92E		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	92					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GTGGACCAGGGAGAGGAGTTT	0.587																																						uc002opu.1		NA																	0					0						c.(274-276)GGA>GAA		cytochrome P450, family 2, subfamily F,							98.0	96.0	97.0					19																	41622463		2203	4300	6503	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622463G>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.275G>A	19.37:g.41622463G>A	ENSP00000333534:p.Gly92Glu					CYP2F1_uc010xvw.1_5'UTR|CYP2F1_uc010xvv.1_Missense_Mutation_p.G92E|CYP2F1_uc002opv.1_RNA	p.G92E	NM_000774	NP_000765	P24903	CP2F1_HUMAN			3	331	+			92					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.275G>A	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917352	0.52546	.	.	ENSG00000197446	ENST00000331105	T	0.70749	-0.51	3.91	-7.39	0.01402	.	0.360561	0.26983	N	0.021504	T	0.72708	0.3494	M	0.79343	2.45	0.22842	N	0.998665	P;P	0.51147	0.942;0.942	P;P	0.51777	0.679;0.658	T	0.74127	-0.3765	10	0.87932	D	0	.	14.1986	0.65686	0.0895:0.7457:0.1648:0.0	.	92;92	Q32MN5;P24903	.;CP2F1_HUMAN	E	92	ENSP00000333534:G92E	ENSP00000333534:G92E	G	+	2	0	CYP2F1	46314303	0.000000	0.05858	0.020000	0.16555	0.407000	0.30961	-0.451000	0.06795	-0.717000	0.04955	-0.282000	0.10007	GGA		0.587	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			16	50	0	0	0	0	16	50				
HNRNPUL1	11100	broad.mit.edu	37	19	41809897	41809897	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:41809897G>T	ENST00000392006.3	+	13	2166	c.1993G>T	c.(1993-1995)Ggt>Tgt	p.G665C	HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.G565C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.G565C|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.G665C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.G576C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.G565C|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.G551C	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	665	Gly-rich.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CAGCGGAGGTGGTGGCTATAG	0.557																																						uc002oqb.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1993-1995)GGT>TGT		heterogeneous nuclear ribonucleoprotein U-like 1							95.0	96.0	96.0					19																	41809897		2203	4300	6503	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41809897G>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1993G>T	19.37:g.41809897G>T	ENSP00000375863:p.Gly665Cys					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.G565C|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.G565C|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.G665C|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.G551C|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.G565C|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.G565C|HNRNPUL1_uc010eho.2_Missense_Mutation_p.G565C|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.G565C|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.G521C|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.G189C	p.G665C	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			13	2282	+			665			Gly-rich.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.1993G>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786799	0.49997	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	4.73	4.73	0.59995	.	0.206118	0.40640	N	0.001043	D	0.85500	0.5711	N	0.14661	0.345	0.46416	D	0.999033	D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;1.0;0.999;0.999	P;P;D;D;D;D;D	0.80764	0.829;0.894;0.964;0.994;0.983;0.962;0.951	D	0.87471	0.2414	10	0.62326	D	0.03	-9.206	15.142	0.72618	0.0:0.0:1.0:0.0	.	576;565;665;189;551;665;565	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-5;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;.;HNRL1_HUMAN;.	C	565;665;551;576	ENSP00000340857:G565C;ENSP00000375863:G665C;ENSP00000367460:G551C;ENSP00000263367:G576C	ENSP00000263367:G576C	G	+	1	0	HNRNPUL1	46501737	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.409000	0.80053	2.649000	0.89929	0.555000	0.69702	GGT		0.557	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		33	54	1	0	2.87e-16	2.97e-16	33	54				
ARHGEF1	9138	broad.mit.edu	37	19	42399446	42399446	+	Missense_Mutation	SNP	G	G	A	rs200700112		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:42399446G>A	ENST00000354532.3	+	12	1050	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R268Q|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R283Q|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R301Q|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R316Q	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	301					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTACAGACCGGAAGGGAGGC	0.607																																						uc002orx.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(901-903)CGG>CAG		Rho guanine nucleotide exchange factor 1 isoform							74.0	79.0	77.0					19																	42399446		2203	4300	6503	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42399446G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.902G>A	19.37:g.42399446G>A	ENSP00000346532:p.Arg301Gln					ARHGEF1_uc002orw.1_Missense_Mutation_p.R301Q|ARHGEF1_uc002ory.2_Missense_Mutation_p.R268Q|ARHGEF1_uc002orz.2_Missense_Mutation_p.R139Q|ARHGEF1_uc002osa.2_Missense_Mutation_p.R316Q|ARHGEF1_uc002osb.2_Missense_Mutation_p.R283Q|ARHGEF1_uc002osc.2_5'UTR|ARHGEF1_uc002osd.2_5'Flank	p.R301Q	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	12	1011	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	301					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.902G>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752901	0.49362	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	T;T;T;T	0.70869	-0.32;-0.24;-0.33;-0.52	4.88	4.88	0.63580	.	0.075170	0.53938	D	0.000053	T	0.73814	0.3635	L	0.32530	0.975	0.30719	N	0.748432	D;P;P;B;D	0.89917	0.957;0.733;0.697;0.217;1.0	B;B;B;B;P	0.61275	0.223;0.123;0.213;0.038;0.886	T	0.74515	-0.3640	10	0.56958	D	0.05	-24.5612	13.9514	0.64118	0.0:0.0:1.0:0.0	.	283;316;268;301;361	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	Q	301;268;337;316;283	ENSP00000346532:R301Q;ENSP00000344429:R268Q;ENSP00000337261:R316Q;ENSP00000367394:R283Q	ENSP00000323044:R337Q	R	+	2	0	ARHGEF1	47091286	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	2.617000	0.46385	2.434000	0.82447	0.555000	0.69702	CGG		0.607	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		16	69	0	0	0	0	16	69				
POU2F2	5452	broad.mit.edu	37	19	42598031	42598031	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:42598031C>T	ENST00000526816.2	-	12	1163	c.1148G>A	c.(1147-1149)gGc>gAc	p.G383D	POU2F2_ENST00000342301.4_Missense_Mutation_p.G383D|POU2F2_ENST00000389341.5_Missense_Mutation_p.G367D|POU2F2_ENST00000529067.1_Missense_Mutation_p.G367D|POU2F2_ENST00000529952.1_Missense_Mutation_p.G383D|POU2F2_ENST00000533720.1_Missense_Mutation_p.G367D|POU2F2_ENST00000560398.1_Missense_Mutation_p.G389D|POU2F2_ENST00000560558.1_Missense_Mutation_p.G328D			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	383					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GGTCCCCGCGCCCCCTTGGGG	0.617																																						uc002osp.2		NA																	0				ovary(1)|skin(1)	2						c.(1147-1149)GGC>GAC		POU domain, class 2, transcription factor 2							118.0	106.0	110.0					19																	42598031		2203	4300	6503	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42598031C>T		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1148G>A	19.37:g.42598031C>T	ENSP00000431603:p.Gly383Asp					POU2F2_uc002osn.2_Missense_Mutation_p.G367D|POU2F2_uc002oso.2_Missense_Mutation_p.G156D|POU2F2_uc002osq.2_Missense_Mutation_p.G367D|POU2F2_uc002osr.1_Missense_Mutation_p.G383D	p.G383D	NM_002698	NP_002689	P09086	PO2F2_HUMAN			12	1215	-		Prostate(69;0.059)	383					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.1148G>A	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278334	0.40294	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;T;D	0.82893	-1.58;-1.66;-1.65;-1.6;-1.38;-1.58	3.98	1.62	0.23740	.	2.670970	0.00997	N	0.003600	T	0.74741	0.3756	N	0.14661	0.345	0.32040	N	0.598301	B;P;B	0.45348	0.048;0.856;0.048	B;B;B	0.39805	0.034;0.31;0.034	T	0.71265	-0.4644	10	0.62326	D	0.03	.	13.0817	0.59117	0.0:0.596:0.404:0.0	.	367;383;367	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	D	367;383;383;367;382;367;383	ENSP00000373992:G367D;ENSP00000339369:G383D;ENSP00000437221:G367D;ENSP00000431603:G382D;ENSP00000437224:G367D;ENSP00000436988:G383D	ENSP00000292077:G383D	G	-	2	0	POU2F2	47289871	0.991000	0.36638	0.996000	0.52242	0.983000	0.72400	1.327000	0.33746	1.013000	0.39391	0.561000	0.74099	GGC		0.617	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			17	88	0	0	0	0	17	88				
CIC	23152	broad.mit.edu	37	19	42794462	42794462	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:42794462C>T	ENST00000575354.2	+	10	1582	c.1542C>T	c.(1540-1542)ccC>ccT	p.P514P	CIC_ENST00000572681.2_Silent_p.P1423P|CIC_ENST00000160740.3_Silent_p.P514P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	514	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCTGAGCCCCCAGGGCCCC	0.627			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1		NA		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		0				ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(1540-1542)CCC>CCT		capicua homolog							65.0	65.0	65.0					19																	42794462		2203	4300	6503	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794462C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1542C>T	19.37:g.42794462C>T							p.P514P	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			10	1582	+		Prostate(69;0.00682)	514			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.1542C>T	CCDS12601.1																																																																																				0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			20	65	0	0	0	0	20	65				
CEACAM1	634	broad.mit.edu	37	19	43026182	43026182	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:43026182G>A	ENST00000161559.6	-	3	731	c.597C>T	c.(595-597)acC>acT	p.T199T	CEACAM1_ENST00000352591.5_Silent_p.T199T|CEACAM1_ENST00000599389.1_Silent_p.T199T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Silent_p.T159T|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403444.3_Silent_p.T199T|CEACAM1_ENST00000358394.3_Silent_p.T199T|CEACAM1_ENST00000403461.1_Silent_p.T199T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	199	Ig-like C2-type 1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTAGAGTGAGGGTCCTGTTGC	0.532																																						uc002otv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(595-597)ACC>ACT		carcinoembryonic antigen-related cell adhesion	Arcitumomab(DB00113)						240.0	214.0	223.0					19																	43026182		2203	4300	6503	SO:0001819	synonymous_variant	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43026182G>A	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.597C>T	19.37:g.43026182G>A						uc010eif.1_Intron|uc002ott.1_RNA|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Silent_p.T199T|CEACAM1_uc010eij.2_Silent_p.T199T|CEACAM1_uc002otx.2_Silent_p.T199T|CEACAM1_uc002oty.2_Silent_p.T199T|CEACAM1_uc002otz.2_Silent_p.T199T|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Silent_p.T199T|CEACAM1_uc002oub.2_Silent_p.T199T|CEACAM1_uc002ouc.2_Silent_p.T199T	p.T199T	NM_001712	NP_001703	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	3	710	-		Prostate(69;0.00682)	199			Ig-like C2-type 1.|Extracellular (Potential).		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	ENST00000161559.6	37	c.597C>T	CCDS12609.1																																																																																				0.532	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		35	203	0	0	0	0	35	203				
PSG4	5672	broad.mit.edu	37	19	43709670	43709670	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:43709670G>A	ENST00000405312.3	-	1	256	c.19C>T	c.(19-21)Cct>Tct	p.P7S	PSG4_ENST00000244295.9_Missense_Mutation_p.P7S|PSG4_ENST00000433626.2_Missense_Mutation_p.P7S	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	7					female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTGCAGGGAGGGGCTGAGAGG	0.587																																						uc002ovy.2		NA																	0				ovary(1)	1						c.(19-21)CCT>TCT		pregnancy specific beta-1-glycoprotein 4 isoform							69.0	69.0	69.0					19																	43709670		2185	4270	6455	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43709670G>A		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.19C>T	19.37:g.43709670G>A	ENSP00000384770:p.Pro7Ser					PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Missense_Mutation_p.P7S|PSG4_uc002ovz.2_Missense_Mutation_p.P7S	p.P7S	NM_002780	NP_002771	Q00888	PSG4_HUMAN			1	121	-		Prostate(69;0.00682)	7					E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.19C>T	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	-	8.594	0.885372	0.17540	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.52754	1.11;0.65;1.81	2.55	-5.11	0.02901	.	.	.	.	.	T	0.46964	0.1420	L	0.41027	1.25	0.09310	N	1	D;P;D	0.89917	1.0;0.828;1.0	D;P;D	0.87578	0.998;0.612;0.98	T	0.36768	-0.9734	9	0.38643	T	0.18	.	0.4752	0.00538	0.2684:0.1294:0.2132:0.389	.	7;7;7	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	S	7	ENSP00000244295:P7S;ENSP00000384770:P7S;ENSP00000387864:P7S	ENSP00000244295:P7S	P	-	1	0	PSG4	48401510	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.569000	0.05902	-2.085000	0.00864	-1.216000	0.01612	CCT		0.587	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		6	33	0	0	0	0	6	33				
IRGC	56269	broad.mit.edu	37	19	44223319	44223319	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44223319G>A	ENST00000244314.5	+	2	808	c.609G>A	c.(607-609)cgG>cgA	p.R203R		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	203	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGCGGCTGCGGGAGGCCGGCG	0.701																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(607-609)CGG>CGA		immunity-related GTPase family, cinema							26.0	29.0	28.0					19																	44223319		2143	4217	6360	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223319G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.609G>A	19.37:g.44223319G>A							p.R203R	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	756	+		Prostate(69;0.0435)	203					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.609G>A	CCDS12629.1																																																																																				0.701	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		8	52	0	0	0	0	8	52				
ZNF221	7638	broad.mit.edu	37	19	44466927	44466927	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44466927C>T	ENST00000251269.5	+	3	377	c.49C>T	c.(49-51)Cct>Tct	p.P17S	ZNF221_ENST00000592350.1_Missense_Mutation_p.P17S|ZNF221_ENST00000587682.1_Missense_Mutation_p.P17S	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTGCAAATTCCCTGAAGTAGA	0.403																																						uc002oxx.2		NA																	0				skin(1)	1						c.(49-51)CCT>TCT		zinc finger protein 221							138.0	121.0	127.0					19																	44466927		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44466927C>T	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.49C>T	19.37:g.44466927C>T	ENSP00000251269:p.Pro17Ser					ZNF221_uc010ejb.1_Missense_Mutation_p.P17S|ZNF221_uc010xws.1_Missense_Mutation_p.P17S	p.P17S	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			3	377	+		Prostate(69;0.0352)	17					B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.49C>T	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730241	0.48939	.	.	ENSG00000159905	ENST00000251269	T	0.05513	3.43	2.04	2.04	0.26737	.	.	.	.	.	T	0.10165	0.0249	N	0.20483	0.58	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.34304	-0.9834	9	0.33141	T	0.24	.	7.5948	0.28041	0.0:1.0:0.0:0.0	.	17	Q9UK13	ZN221_HUMAN	S	17	ENSP00000251269:P17S	ENSP00000251269:P17S	P	+	1	0	ZNF221	49158767	0.001000	0.12720	0.008000	0.14137	0.375000	0.29983	0.698000	0.25571	1.422000	0.47177	0.462000	0.41574	CCT		0.403	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			22	53	0	0	0	0	22	53				
ZNF233	353355	broad.mit.edu	37	19	44777200	44777200	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44777200G>A	ENST00000391958.2	+	5	514	c.387G>A	c.(385-387)aaG>aaA	p.K129K	ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TTCAAGGCAAGAGGTCCAAGT	0.378																																						uc002oyz.1		NA																	0				skin(2)	2						c.(385-387)AAG>AAA		zinc finger protein 233							70.0	71.0	71.0					19																	44777200		2203	4300	6503	SO:0001819	synonymous_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777200G>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.387G>A	19.37:g.44777200G>A						ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_5'UTR	p.K129K	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	514	+		Prostate(69;0.0435)|all_neural(266;0.226)	129					B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.387G>A	CCDS33047.1																																																																																				0.378	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		9	62	0	0	0	0	9	62				
ZNF285	26974	broad.mit.edu	37	19	44891169	44891169	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44891169G>A	ENST00000330997.4	-	4	1302	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	ZNF285_ENST00000591679.1_Missense_Mutation_p.S420F|ZNF285_ENST00000544719.2_Missense_Mutation_p.S413F|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTGAAGAACGGAGCTTGAACT	0.493																																						uc002ozd.3		NA																	0				ovary(2)|skin(2)	4						c.(1237-1239)TCC>TTC		zinc finger protein 285							50.0	48.0	49.0					19																	44891169		2202	4297	6499	SO:0001583	missense	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891169G>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1238C>T	19.37:g.44891169G>A	ENSP00000333595:p.Ser413Phe					ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.S420F	p.S413F	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	1325	-			413			C2H2-type 6.		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1238C>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	8.813	0.935630	0.18206	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.18657	2.2	3.36	2.3	0.28687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34308	0.0893	M	0.82716	2.605	0.09310	N	1	B;D	0.55385	0.099;0.971	B;P	0.50440	0.027;0.641	T	0.15665	-1.0429	9	0.56958	D	0.05	.	7.2321	0.26049	0.2321:0.0:0.7679:0.0	.	437;413	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	F	436;413	ENSP00000333595:S413F	ENSP00000333595:S413F	S	-	2	0	ZNF285	49583009	0.056000	0.20664	0.018000	0.16275	0.879000	0.50718	0.857000	0.27831	0.520000	0.28426	0.298000	0.19748	TCC		0.493	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		11	56	0	0	0	0	11	56				
ZNF285	26974	broad.mit.edu	37	19	44891417	44891417	+	Silent	SNP	G	G	A	rs528234569		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44891417G>A	ENST00000330997.4	-	4	1054	c.990C>T	c.(988-990)tcC>tcT	p.S330S	ZNF285_ENST00000591679.1_Silent_p.S337S|ZNF285_ENST00000544719.2_Silent_p.S330S|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	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)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGTTGTGAAGGGAAGAGCTGC	0.478																																						uc002ozd.3		NA																	0				ovary(2)|skin(2)	4						c.(988-990)TCC>TCT		zinc finger protein 285							96.0	96.0	96.0					19																	44891417		2203	4300	6503	SO:0001819	synonymous_variant	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891417G>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.990C>T	19.37:g.44891417G>A						ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.S337S	p.S330S	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	1077	-			330			C2H2-type 3.		Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	c.990C>T	CCDS12638.1																																																																																				0.478	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		29	93	0	0	0	0	29	93				
ZNF180	7733	broad.mit.edu	37	19	44981195	44981195	+	Silent	SNP	G	G	A	rs373315647		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44981195G>A	ENST00000221327.4	-	5	1784	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Silent_p.S476S|ZNF180_ENST00000592529.1_Silent_p.S474S|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	501					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)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTGACTAAAGGATTTCCCAC	0.383																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.3		NA																	0				ovary(2)	2						c.(1501-1503)TCC>TCT		zinc finger protein 180							68.0	68.0	68.0					19																	44981195		2203	4300	6503	SO:0001819	synonymous_variant	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981195G>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1503C>T	19.37:g.44981195G>A						ZNF180_uc002ozh.3_Silent_p.S158S|ZNF180_uc002ozi.3_Silent_p.S474S|ZNF180_uc002ozg.3_Silent_p.S500S|ZNF180_uc010ejm.2_Silent_p.S476S	p.S501S	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			5	1785	-		Prostate(69;0.0435)	501			C2H2-type 6.		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	c.1503C>T	CCDS12639.1																																																																																				0.383	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		23	69	0	0	0	0	23	69				
CEACAM19	56971	broad.mit.edu	37	19	45179627	45179627	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45179627G>C	ENST00000403660.3	+	3	719	c.509G>C	c.(508-510)gGg>gCg	p.G170A	CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000358777.4_Missense_Mutation_p.G170A			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	170						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CTTGCTGCCGGGGCCCTTCTC	0.587																																						uc002ozo.3		NA																	0					0						c.(508-510)GGG>GCG		carcinoembryonic antigen-related cell adhesion							83.0	78.0	80.0					19																	45179627		2203	4300	6503	SO:0001583	missense	56971					integral to membrane		g.chr19:45179627G>C	AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"""Immunoglobulin superfamily / V-set domain containing"""	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.509G>C	19.37:g.45179627G>C	ENSP00000384887:p.Gly170Ala					CEACAM19_uc002ozp.3_Missense_Mutation_p.G170A	p.G170A	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN			3	989	+	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)	170			Helical; (Potential).		Q5XJ15|Q7Z693	Missense_Mutation	SNP	ENST00000403660.3	37	c.509G>C	CCDS12641.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779533	0.49891	.	.	ENSG00000186567	ENST00000358777;ENST00000403660	T;T	0.03181	4.02;4.03	3.53	2.44	0.29823	.	0.000000	0.35436	U	0.003219	T	0.08582	0.0213	L	0.36672	1.1	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.15435	-1.0437	10	0.34782	T	0.22	-20.4544	8.0464	0.30551	0.0:0.0:0.7576:0.2424	.	170;170	Q5XJ15;Q7Z692	.;CEA19_HUMAN	A	170	ENSP00000351627:G170A;ENSP00000384887:G170A	ENSP00000351627:G170A	G	+	2	0	CEACAM19	49871467	0.236000	0.23804	0.023000	0.16930	0.861000	0.49209	1.536000	0.36072	0.776000	0.33473	0.313000	0.20887	GGG		0.587	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323022.1	NM_020219		27	49	0	0	0	0	27	49				
CEACAM16	388551	broad.mit.edu	37	19	45209024	45209024	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45209024G>A	ENST00000405314.2	+	4	923	c.826G>A	c.(826-828)Gac>Aac	p.D276N	CEACAM16_ENST00000587331.1_Missense_Mutation_p.D276N|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	276	Ig-like C2-type 2.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GAACGGCCAAGACCACCTCAA	0.577																																						uc010xxd.1		NA																	0				ovary(1)	1						c.(826-828)GAC>AAC		carcinoembryonic antigen-related cell adhesion							107.0	119.0	115.0					19																	45209024		2145	4254	6399	SO:0001583	missense	388551							g.chr19:45209024G>A		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.826G>A	19.37:g.45209024G>A	ENSP00000385576:p.Asp276Asn					CEACAM16_uc002ozq.2_Missense_Mutation_p.D335N	p.D276N	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN			5	1032	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	276					A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	c.826G>A	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882896	0.51908	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.40756	1.02	5.11	3.85	0.44370	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.516231	0.14325	U	0.326746	T	0.35393	0.0930	N	0.12746	0.255	0.09310	N	1	D	0.53619	0.961	P	0.53450	0.726	T	0.08911	-1.0699	10	0.51188	T	0.08	-36.1373	9.4427	0.38679	0.1138:0.0:0.8862:0.0	.	335	Q2WEN9	CEA16_HUMAN	N	341;276	ENSP00000385576:D276N	ENSP00000379974:D341N	D	+	1	0	CEACAM16	49900864	0.996000	0.38824	0.859000	0.33776	0.661000	0.39034	3.154000	0.50693	2.388000	0.81334	0.555000	0.69702	GAC		0.577	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		19	43	0	0	0	0	19	43				
CLPTM1	1209	broad.mit.edu	37	19	45495560	45495560	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45495560G>A	ENST00000337392.5	+	13	1775	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	CLPTM1_ENST00000546079.1_Missense_Mutation_p.R440H|CLPTM1_ENST00000541297.2_Missense_Mutation_p.R528H	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	542					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTTCCCTGGCGCATGCTCACC	0.567																																						uc002pai.2		NA																	0				ovary(1)	1						c.(1624-1626)CGC>CAC		cleft lip and palate associated transmembrane							240.0	188.0	205.0					19																	45495560		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45495560G>A	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1625G>A	19.37:g.45495560G>A	ENSP00000336994:p.Arg542His					CLPTM1_uc010xxf.1_Missense_Mutation_p.R440H|CLPTM1_uc010xxg.1_Missense_Mutation_p.R528H	p.R542H	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	13	1640	+		all_neural(266;0.224)|Ovarian(192;0.231)	542			Cytoplasmic (Potential).		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1625G>A	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129728	0.94473	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.64	5.64	0.86602	.	0.108661	0.64402	D	0.000012	T	0.78201	0.4246	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79974	-0.1577	9	0.87932	D	0	-27.0299	15.2513	0.73549	0.0:0.0:1.0:0.0	.	528;542	F5H8J3;O96005	.;CLPT1_HUMAN	H	440;528;542;542	.	ENSP00000336994:R542H	R	+	2	0	CLPTM1	50187400	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.414000	0.80117	2.671000	0.90904	0.650000	0.86243	CGC		0.567	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		4	107	0	0	0	0	4	107				
CLPTM1	1209	broad.mit.edu	37	19	45496109	45496109	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45496109C>T	ENST00000337392.5	+	14	2114	c.1964C>T	c.(1963-1965)cCc>cTc	p.P655L	CLPTM1_ENST00000546079.1_Missense_Mutation_p.P553L|CLPTM1_ENST00000541297.2_Missense_Mutation_p.P641L	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	655					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCCAGCGAGCCCCAGGAAGCC	0.672																																						uc002pai.2		NA																	0				ovary(1)	1						c.(1963-1965)CCC>CTC		cleft lip and palate associated transmembrane							40.0	46.0	44.0					19																	45496109		2202	4300	6502	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45496109C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1964C>T	19.37:g.45496109C>T	ENSP00000336994:p.Pro655Leu					CLPTM1_uc010xxf.1_Missense_Mutation_p.P553L|CLPTM1_uc010xxg.1_Missense_Mutation_p.P641L	p.P655L	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	14	1979	+		all_neural(266;0.224)|Ovarian(192;0.231)	655			Cytoplasmic (Potential).		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1964C>T	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921395	0.52653	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.14	4.14	0.48551	.	0.204155	0.30118	N	0.010366	T	0.42720	0.1215	N	0.08118	0	0.45250	D	0.998258	D;P	0.54964	0.969;0.948	P;P	0.54431	0.752;0.57	T	0.28618	-1.0038	9	0.30854	T	0.27	-11.2276	12.2537	0.54611	0.0:1.0:0.0:0.0	.	641;655	F5H8J3;O96005	.;CLPT1_HUMAN	L	553;641;655;655	.	ENSP00000336994:P655L	P	+	2	0	CLPTM1	50187949	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	1.767000	0.38501	2.606000	0.88127	0.650000	0.86243	CCC		0.672	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		8	33	0	0	0	0	8	33				
ERCC2	2068	broad.mit.edu	37	19	45856009	45856009	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45856009G>A	ENST00000391945.4	-	20	1974	c.1897C>T	c.(1897-1899)Ctc>Ttc	p.L633F	ERCC2_ENST00000391944.3_Missense_Mutation_p.L555F	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	633	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCTTGAGAATGCGGCTC	0.612			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NA	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(1897-1899)CTC>TTC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							75.0	70.0	72.0					19																	45856009		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45856009G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1897C>T	19.37:g.45856009G>A	ENSP00000375809:p.Leu633Phe					ERCC2_uc002pbh.2_Missense_Mutation_p.L196F|ERCC2_uc002pbi.2_Missense_Mutation_p.L326F|ERCC2_uc010ejz.2_Missense_Mutation_p.L555F|ERCC2_uc002pbk.2_Missense_Mutation_p.L609F	p.L633F	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	20	1944	-		Ovarian(192;0.0728)|all_neural(266;0.112)	633			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1897C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676593	0.88445	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.92397	-3.03;-3.03	5.13	5.13	0.70059	Helicase, ATP-dependent, c2 type (1);	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	H	0.94385	3.53	0.80722	D	1	P;P;P	0.45672	0.848;0.761;0.864	P;P;P	0.55345	0.774;0.766;0.729	D	0.97282	0.9918	10	0.72032	D	0.01	-40.2338	16.1093	0.81247	0.0:0.0:1.0:0.0	.	555;633;326	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	F	583;609;633;555	ENSP00000375809:L633F;ENSP00000375808:L555F	ENSP00000375805:L583F	L	-	1	0	ERCC2	50547849	1.000000	0.71417	0.994000	0.49952	0.830000	0.47004	6.541000	0.73865	2.667000	0.90743	0.561000	0.74099	CTC		0.612	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		27	32	0	0	0	0	27	32				
PPP1R13L	10848	broad.mit.edu	37	19	45885876	45885876	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45885876G>A	ENST00000418234.2	-	12	2435	c.2357C>T	c.(2356-2358)aCc>aTc	p.T786I	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.T786I	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	786	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCGCAGCACGGTGACCGACTC	0.687																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2		NA																	0				skin(1)	1						c.(2356-2358)ACC>ATC		protein phosphatase 1, regulatory subunit 13							50.0	44.0	46.0					19																	45885876		2203	4300	6503	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45885876G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2357C>T	19.37:g.45885876G>A	ENSP00000403902:p.Thr786Ile					PPP1R13L_uc002pbm.2_Missense_Mutation_p.T365I|PPP1R13L_uc002pbo.2_Missense_Mutation_p.T786I	p.T786I	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	12	2434	-		all_neural(266;0.224)|Ovarian(192;0.231)	786			SH3.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.2357C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428200	0.62844	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.53423	0.62;0.62	4.61	4.61	0.57282	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	L	0.31120	0.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.58008	-0.7712	10	0.46703	T	0.11	.	14.9426	0.71006	0.0:0.0:1.0:0.0	.	786;365	Q8WUF5;A7YME7	IASPP_HUMAN;.	I	786;786;360	ENSP00000403902:T786I;ENSP00000354218:T786I	ENSP00000221478:T360I	T	-	2	0	PPP1R13L	50577716	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.309000	0.78937	2.100000	0.63781	0.462000	0.41574	ACC		0.687	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		6	26	0	0	0	0	6	26				
EML2	24139	broad.mit.edu	37	19	46137675	46137675	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:46137675C>T	ENST00000245925.3	-	4	284	c.234G>A	c.(232-234)ggG>ggA	p.G78G	EML2_ENST00000589876.1_Silent_p.G78G|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000536630.1_Silent_p.G225G|EML2_ENST00000587152.1_Silent_p.G279G	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	78	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACACTATCTCCCCGGTGGGCA	0.557																																						uc002pcn.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(232-234)GGG>GGA		echinoderm microtubule associated protein like							74.0	52.0	60.0					19																	46137675		2203	4300	6503	SO:0001819	synonymous_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46137675C>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.234G>A	19.37:g.46137675C>T						EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Intron|EML2_uc010xxl.1_Silent_p.G225G|EML2_uc010xxm.1_Silent_p.G279G|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.G78G|EML2_uc010ekj.2_Silent_p.G78G	p.G78G	NM_012155	NP_036287	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	4	269	-		Ovarian(192;0.179)|all_neural(266;0.224)	78					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	c.234G>A	CCDS12670.1																																																																																				0.557	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		9	23	0	0	0	0	9	23				
RSPH6A	81492	broad.mit.edu	37	19	46318152	46318152	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:46318152G>A	ENST00000221538.3	-	1	425	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	SYMPK_ENST00000598155.1_5'Flank|RSPH6A_ENST00000597055.1_Missense_Mutation_p.P95S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	95						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AACTCTGAGGGAAAGCCCGTG	0.602																																						uc002pdm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(283-285)CCC>TCC		radial spokehead-like 1							53.0	49.0	51.0					19																	46318152		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46318152G>A	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.283C>T	19.37:g.46318152G>A	ENSP00000221538:p.Pro95Ser						p.P95S	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			1	426	-			95					Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.283C>T	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840189	0.32513	.	.	ENSG00000104941	ENST00000221538	T	0.14516	2.5	4.25	-4.01	0.04045	.	0.857624	0.09825	N	0.751036	T	0.06188	0.0160	N	0.24115	0.695	0.09310	N	1	B	0.17038	0.02	B	0.09377	0.004	T	0.38628	-0.9652	10	0.31617	T	0.26	-14.9401	1.1286	0.01740	0.4417:0.158:0.2397:0.1606	.	95	Q9H0K4	RSH6A_HUMAN	S	95	ENSP00000221538:P95S	ENSP00000221538:P95S	P	-	1	0	RSPH6A	51009992	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.591000	0.02100	-0.478000	0.06823	-0.334000	0.08254	CCC		0.602	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			8	37	0	0	0	0	8	37				
STRN4	29888	broad.mit.edu	37	19	47231181	47231181	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47231181G>A	ENST00000263280.6	-	8	1172	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	STRN4_ENST00000391910.3_Missense_Mutation_p.P375S|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.P256S|STRN4_ENST00000594357.2_5'UTR	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	375						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGTGTGCCAGGAGGCGGGCCA	0.662																																						uc002pfl.2		NA																	0					0						c.(1123-1125)CCT>TCT		zinedin isoform 1							41.0	43.0	42.0					19																	47231181		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47231181G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1123C>T	19.37:g.47231181G>A	ENSP00000263280:p.Pro375Ser					STRN4_uc002pfm.2_Missense_Mutation_p.P375S|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	p.P375S	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	8	1156	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	375					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1123C>T	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669427	0.29693	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.63417	0.01;-0.04;0.09	4.41	4.41	0.53225	.	0.069064	0.64402	D	0.000012	T	0.63414	0.2509	N	0.17474	0.49	0.80722	D	1	B;D	0.89917	0.128;1.0	B;D	0.79108	0.041;0.992	T	0.61907	-0.6966	10	0.27082	T	0.32	-8.2987	13.9449	0.64077	0.0:0.0:1.0:0.0	.	375;375	F8VYA6;Q9NRL3	.;STRN4_HUMAN	S	375;375;256	ENSP00000375777:P375S;ENSP00000263280:P375S;ENSP00000440901:P256S	ENSP00000263280:P375S	P	-	1	0	STRN4	51923021	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	5.251000	0.65438	2.003000	0.58678	0.561000	0.74099	CCT		0.662	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			12	39	0	0	0	0	12	39				
ARHGAP35	2909	broad.mit.edu	37	19	47503696	47503696	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47503696C>A	ENST00000404338.3	+	6	4251	c.4251C>A	c.(4249-4251)gcC>gcA	p.A1417A		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1417	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CCCTCACAGCCACGCGCACCT	0.557																																						uc010ekv.2		NA																	0				central_nervous_system(1)	1						c.(4249-4251)GCC>GCA		glucocorticoid receptor DNA binding factor 1							237.0	252.0	247.0					19																	47503696		2172	4250	6422	SO:0001819	synonymous_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47503696C>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4251C>A	19.37:g.47503696C>A							p.A1417A	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	6	4251	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1417			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Silent	SNP	ENST00000404338.3	37	c.4251C>A	CCDS46127.1																																																																																				0.557	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		49	176	1	0	6.15e-18	6.37e-18	49	176				
ARHGAP35	2909	broad.mit.edu	37	19	47503753	47503753	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47503753C>T	ENST00000404338.3	+	6	4308	c.4308C>T	c.(4306-4308)ttC>ttT	p.F1436F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1436	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CCTTCTTCTTCTACAATCGGC	0.597																																						uc010ekv.2		NA																	0				central_nervous_system(1)	1						c.(4306-4308)TTC>TTT		glucocorticoid receptor DNA binding factor 1							143.0	150.0	148.0					19																	47503753		2081	4197	6278	SO:0001819	synonymous_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47503753C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4308C>T	19.37:g.47503753C>T							p.F1436F	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	6	4308	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1436			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Silent	SNP	ENST00000404338.3	37	c.4308C>T	CCDS46127.1																																																																																				0.597	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		22	101	0	0	0	0	22	101				
ZC3H4	23211	broad.mit.edu	37	19	47570606	47570606	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47570606G>A	ENST00000253048.5	-	15	2956	c.2919C>T	c.(2917-2919)ttC>ttT	p.F973F	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	973							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGGTGCGGGCGAAGCTGGGCT	0.677																																						uc002pga.3		NA																	0				skin(4)|ovary(2)	6						c.(2917-2919)TTC>TTT		zinc finger CCCH-type containing 4							72.0	86.0	81.0					19																	47570606		2141	4237	6378	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47570606G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2919C>T	19.37:g.47570606G>A						ZC3H4_uc002pgb.1_Intron	p.F973F	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	2957	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	973					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.2919C>T	CCDS42582.1																																																																																				0.677	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			29	122	0	0	0	0	29	122				
ZC3H4	23211	broad.mit.edu	37	19	47597293	47597293	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47597293G>A	ENST00000253048.5	-	4	463	c.426C>T	c.(424-426)gaC>gaT	p.D142D	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	142							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGAAATCCGAGTCATCTGAGA	0.572																																						uc002pga.3		NA																	0				skin(4)|ovary(2)	6						c.(424-426)GAC>GAT		zinc finger CCCH-type containing 4							98.0	100.0	100.0					19																	47597293		2018	4181	6199	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47597293G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.426C>T	19.37:g.47597293G>A						ZC3H4_uc002pgb.1_RNA	p.D142D	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	4	464	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	142					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.426C>T	CCDS42582.1																																																																																				0.572	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			47	53	0	0	0	0	47	53				
GLTSCR2	29997	broad.mit.edu	37	19	48255849	48255849	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:48255849C>T	ENST00000246802.5	+	6	788	c.750C>T	c.(748-750)tcC>tcT	p.S250S	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	250						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACAATCCATCCTTTGAAGACC	0.647																																					Colon(58;613 1041 9473 10089 15241)	uc002phm.2		NA																	0				central_nervous_system(1)	1						c.(748-750)TCC>TCT		glioma tumor suppressor candidate region gene 2							96.0	82.0	87.0					19																	48255849		2203	4300	6503	SO:0001819	synonymous_variant	29997					nucleolus		g.chr19:48255849C>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.750C>T	19.37:g.48255849C>T						GLTSCR2_uc002phk.2_Silent_p.S250S|GLTSCR2_uc002phl.2_Silent_p.S250S|GLTSCR2_uc010elj.2_Silent_p.S250S|GLTSCR2_uc010elk.1_RNA	p.S250S	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	6	774	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	250					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	c.750C>T	CCDS12705.1																																																																																				0.647	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		12	34	0	0	0	0	12	34				
BCAT2	587	broad.mit.edu	37	19	49310269	49310270	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49310269_49310270GG>AA	ENST00000316273.6	-	2	98_99	c.86_87CC>TT	c.(85-87)tCC>tTT	p.S29F	BCAT2_ENST00000598162.1_Missense_Mutation_p.S29F|BCAT2_ENST00000599246.1_Intron|BCAT2_ENST00000601496.1_5'UTR|BCAT2_ENST00000402551.1_5'UTR|BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000597011.1_5'UTR	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	29					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TGAAACTGGAGGAGGCATATCT	0.564																																						uc002pkr.2		NA																	0				ovary(1)	1						c.(85-87)TCC>TTT		branched chain aminotransferase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)																																			SO:0001583	missense	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49310269_49310270GG>AA	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.86_87delinsAA	19.37:g.49310269_49310270delinsAA	ENSP00000322991:p.Ser29Phe					BCAT2_uc002pkp.2_5'UTR|BCAT2_uc002pkq.3_5'UTR|BCAT2_uc002pks.2_5'UTR|BCAT2_uc002pkt.2_Intron|BCAT2_uc010emh.1_Missense_Mutation_p.S29F|BCAT2_uc010emi.1_Intron|BCAT2_uc002pku.1_5'UTR|BCAT2_uc010emj.1_RNA	p.S29F	NM_001190	NP_001181	O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	2	123_124	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	29					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	DNP	ENST00000316273.6	37	c.86_87CC>TT	CCDS12735.1																																																																																				0.564	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			6	48	0	0	0	0	6	48				
TULP2	7288	broad.mit.edu	37	19	49387077	49387077	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49387077C>T	ENST00000221399.3	-	11	1353	c.1209G>A	c.(1207-1209)cgG>cgA	p.R403R		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	403					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CAGTCATTTTCCGAGGCCCCA	0.512																																						uc002pkz.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1207-1209)CGG>CGA		tubby like protein 2							113.0	108.0	110.0					19																	49387077		2203	4300	6503	SO:0001819	synonymous_variant	7288				visual perception	cytoplasm|extracellular region		g.chr19:49387077C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1209G>A	19.37:g.49387077C>T							p.R403R	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	11	1360	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	403					Q8TC50	Silent	SNP	ENST00000221399.3	37	c.1209G>A	CCDS12739.1																																																																																				0.512	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		26	87	0	0	0	0	26	87				
RUVBL2	10856	broad.mit.edu	37	19	49514284	49514284	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49514284C>T	ENST00000595090.1	+	10	1280	c.816C>T	c.(814-816)gtC>gtT	p.V272V	RUVBL2_ENST00000601968.1_Silent_p.V227V|RUVBL2_ENST00000413176.2_Silent_p.V227V	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	272					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AGTCAGAAGTCCGTGAGCAGA	0.622																																						uc002plr.1		NA																	0					0						c.(814-816)GTC>GTT		RuvB-like 2							39.0	45.0	43.0					19																	49514284		2123	4253	6376	SO:0001819	synonymous_variant	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49514284C>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.816C>T	19.37:g.49514284C>T						RUVBL2_uc002plq.1_Silent_p.V227V|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Silent_p.V227V|RUVBL2_uc010yac.1_Silent_p.V227V	p.V272V	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	10	829	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	272					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	ENST00000595090.1	37	c.816C>T	CCDS42588.1																																																																																				0.622	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			6	37	0	0	0	0	6	37				
CGB1	114335	broad.mit.edu	37	19	49539417	49539417	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49539417G>A	ENST00000301407.7	-	2	257	c.153C>T	c.(151-153)atC>atT	p.I51I	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Silent_p.I51I	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	83						extracellular region (GO:0005576)				liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AGCCGGCACAGATGGTGGTGT	0.687																																						uc002plx.2		NA																	0					0						c.(151-153)ATC>ATT		chorionic gonadotropin, beta polypeptide 1							30.0	25.0	27.0					19																	49539417		1477	2650	4127	SO:0001819	synonymous_variant	114335					extracellular region	hormone activity	g.chr19:49539417G>A	S80935	CCDS12751.2	19q13.32	2012-10-03				ENSG00000267631			16721	protein-coding gene	gene with protein product		608823				6194155	Standard	NM_033377		Approved		uc002plx.3	A6NKQ9	OTTHUMG00000150186	ENST00000301407.7:c.153C>T	19.37:g.49539417G>A						CGB_uc010yad.1_Intron|SNAR-G1_uc010emp.1_5'Flank	p.I51I	NM_033377	NP_203695	A6NKQ9	CGB1_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	376	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	83					A4FVC8|A8MUK6	Silent	SNP	ENST00000301407.7	37	c.153C>T	CCDS12751.2																																																																																				0.687	CGB1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316746.4	NM_033377		23	141	0	0	0	0	23	141				
SLC6A16	28968	broad.mit.edu	37	19	49812599	49812599	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49812599C>T	ENST00000335875.4	-	6	1187	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Missense_Mutation_p.E316K	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	316					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TTTGCCCCTTCCAGGAGTAGA	0.507																																						uc002pmz.2		NA																	0				skin(2)|ovary(1)|kidney(1)	4						c.(946-948)GAA>AAA		solute carrier family 6, member 16							69.0	70.0	70.0					19																	49812599		1924	4126	6050	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49812599C>T	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.946G>A	19.37:g.49812599C>T	ENSP00000338627:p.Glu316Lys					SLC6A16_uc002pna.2_Missense_Mutation_p.E316K|hsa-mir-4324|MI0015854_5'Flank	p.E316K	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	6	1180	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	316					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.946G>A	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972054	0.34754	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.74947	-0.89;-0.89	4.37	2.08	0.27032	.	0.528659	0.20205	N	0.097008	T	0.47801	0.1465	N	0.13043	0.29	0.26417	N	0.976166	B;B	0.32324	0.364;0.364	B;B	0.27170	0.077;0.077	T	0.34304	-0.9834	10	0.09590	T	0.72	.	6.5134	0.22234	0.1738:0.7179:0.0:0.1083	.	316;316	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	K	316	ENSP00000338627:E316K;ENSP00000404022:E316K	ENSP00000338627:E316K	E	-	1	0	SLC6A16	54504411	0.013000	0.17824	0.097000	0.21041	0.153000	0.21895	-0.109000	0.10840	0.667000	0.31107	0.561000	0.74099	GAA		0.507	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		6	37	0	0	0	0	6	37				
SLC6A16	28968	broad.mit.edu	37	19	49814231	49814231	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49814231C>A	ENST00000335875.4	-	2	615	c.374G>T	c.(373-375)tGt>tTt	p.C125F	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Missense_Mutation_p.C125F	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	125					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GCGCCAGAGACAAGATGGCTT	0.537																																						uc002pmz.2		NA																	0				skin(2)|ovary(1)|kidney(1)	4						c.(373-375)TGT>TTT		solute carrier family 6, member 16							79.0	76.0	77.0					19																	49814231		1915	4115	6030	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49814231C>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.374G>T	19.37:g.49814231C>A	ENSP00000338627:p.Cys125Phe					SLC6A16_uc002pna.2_Missense_Mutation_p.C125F|hsa-mir-4324|MI0015854_5'Flank	p.C125F	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	2	608	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	125			Cytoplasmic (Potential).		Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.374G>T	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675743	0.29783	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.74002	-0.8;-0.8	5.27	-10.5	0.00291	.	1.363460	0.05532	N	0.564051	T	0.48484	0.1502	N	0.08118	0	0.09310	N	1	B;B	0.26002	0.139;0.139	B;B	0.18871	0.023;0.023	T	0.54364	-0.8305	10	0.87932	D	0	.	9.5535	0.39324	0.0:0.3764:0.3717:0.2519	.	125;125	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	F	125	ENSP00000338627:C125F;ENSP00000404022:C125F	ENSP00000338627:C125F	C	-	2	0	SLC6A16	54506043	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.392000	0.20801	-2.728000	0.00385	-1.813000	0.00610	TGT		0.537	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		23	67	1	0	2.22e-12	2.28e-12	23	67				
PRR12	57479	broad.mit.edu	37	19	50099247	50099247	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50099247C>T	ENST00000418929.2	+	4	1667	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGACCCAGCTCCCTGGGAGGC	0.711																																						uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1654-1656)TCC>TTC		proline rich 12							20.0	23.0	22.0					19																	50099247		1909	4059	5968	SO:0001583	missense	57479						DNA binding	g.chr19:50099247C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1655C>T	19.37:g.50099247C>T	ENSP00000394510:p.Ser552Phe						p.S552F	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1655	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1655C>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	6.000	0.368451	0.11352	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.89	1.74	0.24563	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.31656	N	0.646203	P	0.51351	0.944	P	0.47981	0.563	T	0.50866	-0.8777	7	0.56958	D	0.05	.	7.9961	0.30269	0.0:0.7833:0.0:0.2167	.	552	Q9ULL5-3	.	F	552	.	ENSP00000394510:S552F	S	+	2	0	PRR12	54791059	0.002000	0.14202	0.987000	0.45799	0.363000	0.29612	1.203000	0.32284	0.996000	0.38943	0.455000	0.32223	TCC		0.711	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		5	57	0	0	0	0	5	57				
TBC1D17	79735	broad.mit.edu	37	19	50390808	50390808	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50390808C>T	ENST00000221543.5	+	14	1819	c.1520C>T	c.(1519-1521)cCg>cTg	p.P507L	MIR4750_ENST00000584564.1_RNA|TBC1D17_ENST00000535102.2_Missense_Mutation_p.P474L	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	507	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TTCCCCTTCCCGGATGTCCTT	0.632																																						uc002pqo.2		NA																	0					0						c.(1519-1521)CCG>CTG		TBC1 domain family, member 17							73.0	68.0	70.0					19																	50390808		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50390808C>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1520C>T	19.37:g.50390808C>T	ENSP00000221543:p.Pro507Leu					TBC1D17_uc010ybg.1_Missense_Mutation_p.P474L|TBC1D17_uc002pqp.2_Missense_Mutation_p.P158L|TBC1D17_uc002pqr.2_Missense_Mutation_p.P158L|TBC1D17_uc002pqs.2_RNA|IL4I1_uc002pqv.1_3'UTR|IL4I1_uc010eno.1_3'UTR|IL4I1_uc002pqw.1_3'UTR	p.P507L	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	14	1672	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	507			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1520C>T	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854844	0.32791	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.23147	1.92;1.92	4.94	2.83	0.33086	Rab-GAP/TBC domain (4);	0.274636	0.36303	N	0.002667	T	0.14700	0.0355	L	0.28400	0.85	0.47153	D	0.999333	B;B	0.17465	0.022;0.004	B;B	0.13407	0.009;0.007	T	0.09684	-1.0663	10	0.27082	T	0.32	-12.9697	4.3494	0.11148	0.1789:0.6345:0.0:0.1866	.	474;507	F5H1W7;Q9HA65	.;TBC17_HUMAN	L	507;474	ENSP00000221543:P507L;ENSP00000446323:P474L	ENSP00000221543:P507L	P	+	2	0	TBC1D17	55082620	0.234000	0.23783	0.975000	0.42487	0.984000	0.73092	1.326000	0.33735	0.682000	0.31407	-0.409000	0.06214	CCG		0.632	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		13	30	0	0	0	0	13	30				
ATF5	22809	broad.mit.edu	37	19	50434207	50434207	+	Missense_Mutation	SNP	C	C	T	rs568862131		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50434207C>T	ENST00000423777.2	+	2	477	c.100C>T	c.(100-102)Cct>Tct	p.P34S	MIR4751_ENST00000578027.1_RNA|ATF5_ENST00000600336.1_Missense_Mutation_p.P34S|IL4I1_ENST00000341114.3_5'Flank|CTC-326K19.6_ENST00000451973.1_Intron|NUP62_ENST00000596217.1_5'Flank|NUP62_ENST00000352066.3_5'Flank|ATF5_ENST00000595125.1_Missense_Mutation_p.P34S|NUP62_ENST00000413454.1_5'Flank|IL4I1_ENST00000595948.1_5'Flank|NUP62_ENST00000597723.1_5'Flank|NUP62_ENST00000597029.1_5'Flank|NUP62_ENST00000422090.2_5'Flank|NUP62_ENST00000600583.1_5'Flank	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	34					multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	CCCCCCGGCCCCTGCCCCCCT	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		13347	0.0		0.001	False		,,,				2504	0.0				GBM(48;768 989 9196 9511 26329)	uc010enq.1		NA																	0				skin(2)	2						c.(100-102)CCT>TCT		activating transcription factor 5							11.0	12.0	12.0					19																	50434207		2199	4285	6484	SO:0001583	missense	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50434207C>T	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.100C>T	19.37:g.50434207C>T	ENSP00000396954:p.Pro34Ser					IL4I1_uc002pqv.1_5'Flank|IL4I1_uc010eno.1_5'Flank|IL4I1_uc002pqw.1_5'Flank|IL4I1_uc002pqu.1_5'Flank|NUP62_uc002pqx.2_5'Flank|NUP62_uc002pqy.2_5'Flank|NUP62_uc002pqz.2_5'Flank|NUP62_uc002pra.2_5'Flank|NUP62_uc002prb.2_5'Flank|NUP62_uc002prc.2_5'Flank|ATF5_uc002prd.2_Missense_Mutation_p.P34S	p.P34S	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	667	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	34					B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	c.100C>T	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447014	0.43429	.	.	ENSG00000169136	ENST00000423777	T	0.25579	1.79	4.65	4.65	0.58169	.	0.440036	0.17674	N	0.165878	T	0.41328	0.1154	L	0.40543	1.245	0.41855	D	0.990199	D	0.89917	1.0	D	0.79108	0.992	T	0.08086	-1.0739	10	0.30854	T	0.27	-4.6834	15.3916	0.74747	0.0:1.0:0.0:0.0	.	34	Q9Y2D1	ATF5_HUMAN	S	34	ENSP00000396954:P34S	ENSP00000396954:P34S	P	+	1	0	ATF5	55126019	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	2.461000	0.45040	2.308000	0.77769	0.462000	0.41574	CCT		0.687	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			3	14	0	0	0	0	3	14				
MYH14	79784	broad.mit.edu	37	19	50780155	50780155	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50780155G>A	ENST00000596571.1	+	26	3699	c.3699G>A	c.(3697-3699)cgG>cgA	p.R1233R	MYH14_ENST00000598205.1_Silent_p.R1241R|MYH14_ENST00000376970.2_Silent_p.R1266R|MYH14_ENST00000440075.2_Silent_p.R1274R|MYH14_ENST00000262269.8_Silent_p.R1274R|MYH14_ENST00000425460.1_Silent_p.R1241R|MYH14_ENST00000601313.1_Silent_p.R1274R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1233					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCAGGCCCGGagggtgggtt	0.726																																						uc002prr.1		NA																	0				central_nervous_system(1)	1						c.(3697-3699)CGG>CGA		myosin, heavy chain 14 isoform 2							10.0	11.0	11.0					19																	50780155		1943	4105	6048	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50780155G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3699G>A	19.37:g.50780155G>A						MYH14_uc010enu.1_Silent_p.R1274R|MYH14_uc002prq.1_Silent_p.R1241R	p.R1233R	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	27	3746	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1233			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.3699G>A	CCDS59411.1																																																																																				0.726	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		5	28	0	0	0	0	5	28				
SPIB	6689	broad.mit.edu	37	19	50926874	50926874	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50926874C>T	ENST00000595883.1	+	5	377	c.352C>T	c.(352-354)Ccg>Tcg	p.P118S	SPIB_ENST00000597855.1_Intron|SPIB_ENST00000439922.2_Missense_Mutation_p.P27S|SPIB_ENST00000596074.1_Missense_Mutation_p.P46L|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.P252L|SPIB_ENST00000270632.7_Missense_Mutation_p.P118S	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	118					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTGGTTCCCCCGGCATATGC	0.647																																						uc002psd.2		NA																	0				lung(1)|kidney(1)	2						c.(352-354)CCG>TCG		Spi-B transcription factor (Spi-1/PU.1 related)							59.0	49.0	52.0					19																	50926874		2203	4300	6503	SO:0001583	missense	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50926874C>T		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.352C>T	19.37:g.50926874C>T	ENSP00000471921:p.Pro118Ser					SPIB_uc002pse.2_Missense_Mutation_p.P118S|SPIB_uc010ycc.1_Missense_Mutation_p.P27S	p.P118S	NM_003121	NP_003112	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	377	+		all_neural(266;0.131)	118					A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	c.352C>T	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	1.099	-0.661563	0.03454	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T;T	0.40756	1.02;1.97	4.13	3.08	0.35506	.	0.692619	0.12248	N	0.485846	T	0.28101	0.0693	N	0.25647	0.755	0.09310	N	1	B;P;B	0.41313	0.046;0.745;0.308	B;B;B	0.40602	0.039;0.334;0.064	T	0.06463	-1.0825	10	0.20519	T	0.43	.	7.1403	0.25552	0.0:0.8715:0.0:0.1285	.	27;118;118	B4DUG6;Q01892-2;Q01892	.;.;SPIB_HUMAN	S	118;27	ENSP00000270632:P118S;ENSP00000391877:P27S	ENSP00000270632:P118S	P	+	1	0	SPIB	55618686	0.087000	0.21565	0.016000	0.15963	0.130000	0.20726	0.457000	0.21875	1.056000	0.40484	0.462000	0.41574	CCG		0.647	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		6	23	0	0	0	0	6	23				
MYBPC2	4606	broad.mit.edu	37	19	50957535	50957535	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50957535C>T	ENST00000357701.5	+	18	1974	c.1923C>T	c.(1921-1923)ccC>ccT	p.P641P		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	641	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCCCAGACCCCCCGGAGGCTG	0.652																																						uc002psf.2		NA																	0				breast(1)	1						c.(1921-1923)CCC>CCT		myosin binding protein C, fast type							36.0	39.0	38.0					19																	50957535		1981	4150	6131	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50957535C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1923C>T	19.37:g.50957535C>T							p.P641P	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	18	1974	+		all_neural(266;0.057)	641			Fibronectin type-III 1.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.1923C>T	CCDS46152.1																																																																																				0.652	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		4	61	0	0	0	0	4	61				
LRRC4B	94030	broad.mit.edu	37	19	51051874	51051874	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51051874C>T	ENST00000599957.1	-	2	419	c.222G>A	c.(220-222)cgG>cgA	p.R74R	LRRC4B_ENST00000389201.3_Silent_p.R74R			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	74	LRRNT.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGGTCTCTCCGTGTGCAGA	0.706																																						uc002pss.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(220-222)CGG>CGA		leucine rich repeat containing 4B precursor							14.0	15.0	15.0					19																	51051874		2041	4183	6224	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51051874C>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.222G>A	19.37:g.51051874C>T							p.R74R	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	2	359	-		all_neural(266;0.131)	74			Extracellular (Potential).|LRRNT.		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.222G>A	CCDS42595.1																																																																																				0.706	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		3	12	0	0	0	0	3	12				
SYT3	84258	broad.mit.edu	37	19	51133093	51133094	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51133093_51133094GG>AA	ENST00000338916.4	-	3	1642_1643	c.1009_1010CC>TT	c.(1009-1011)CCc>TTc	p.P337F	SYT3_ENST00000600079.1_Missense_Mutation_p.P337F|SYT3_ENST00000593901.1_Missense_Mutation_p.P337F|SYT3_ENST00000544769.1_Missense_Mutation_p.P337F	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	337	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTTGACGTAGGGGTCTGAGAAG	0.614																																						uc002pst.2		NA																	0				ovary(2)|breast(1)	3						c.(1009-1011)CCC>TTC		synaptotagmin III																																				SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51133093_51133094GG>AA	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1009_1010delinsAA	19.37:g.51133093_51133094delinsAA	ENSP00000340914:p.Pro337Phe					SYT3_uc002psv.2_Missense_Mutation_p.P337F|SYT3_uc010ycd.1_Missense_Mutation_p.P337F	p.P337F	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	3	1643_1644	-		all_neural(266;0.131)	337			C2 1.|Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Missense_Mutation	DNP	ENST00000338916.4	37	c.1009_1010CC>TT	CCDS12798.1																																																																																				0.614	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		14	110	0	0	0	0	14	110				
SYT3	84258	broad.mit.edu	37	19	51133335	51133335	+	Silent	SNP	G	G	A	rs144661464	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51133335G>A	ENST00000338916.4	-	3	1401	c.768C>T	c.(766-768)ccC>ccT	p.P256P	SYT3_ENST00000600079.1_Silent_p.P256P|SYT3_ENST00000593901.1_Silent_p.P256P|SYT3_ENST00000544769.1_Silent_p.P256P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	256					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTCCAGGCAGGGGTAAGGGCA	0.677																																						uc002pst.2		NA																	0				ovary(2)|breast(1)	3						c.(766-768)CCC>CCT		synaptotagmin III							43.0	43.0	43.0					19																	51133335		2203	4300	6503	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51133335G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.768C>T	19.37:g.51133335G>A						SYT3_uc002psv.2_Silent_p.P256P|SYT3_uc010ycd.1_Silent_p.P256P	p.P256P	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	3	1402	-		all_neural(266;0.131)	256			Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.768C>T	CCDS12798.1																																																																																				0.677	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		10	53	0	0	0	0	10	53				
KLK1	3816	broad.mit.edu	37	19	51322539	51322539	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51322539G>C	ENST00000301420.2	-	5	735	c.700C>G	c.(700-702)Cct>Gct	p.P234A	KLK1_ENST00000448701.2_Missense_Mutation_p.P132A|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	234	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTGCCACAAGGGACGTAGCCC	0.582																																						uc002ptk.1		NA																	0					0						c.(700-702)CCT>GCT		kallikrein 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122.0	104.0	110.0					19																	51322539		2203	4300	6503	SO:0001583	missense	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51322539G>C	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.700C>G	19.37:g.51322539G>C	ENSP00000301420:p.Pro234Ala					KLK1_uc010ycg.1_RNA	p.P234A	NM_002257	NP_002248	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	5	739	-		all_neural(266;0.0199)	234			Peptidase S1.		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	ENST00000301420.2	37	c.700C>G	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	g	15.95	2.984412	0.53934	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	D;D	0.88201	-2.35;-2.35	3.66	3.66	0.41972	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90865	0.7130	L	0.51422	1.61	0.09310	N	1	D	0.71674	0.998	D	0.65987	0.94	T	0.81609	-0.0855	9	0.26408	T	0.33	.	11.1408	0.48402	0.0:0.0:1.0:0.0	.	234	P06870	KLK1_HUMAN	A	234;132	ENSP00000301420:P234A;ENSP00000400994:P132A	ENSP00000301420:P234A	P	-	1	0	KLK1	56014351	0.561000	0.26578	0.019000	0.16419	0.024000	0.10985	1.471000	0.35365	2.334000	0.79466	0.561000	0.74099	CCT		0.582	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		19	96	0	0	0	0	19	96				
KLK3	354	broad.mit.edu	37	19	51361525	51361525	+	Silent	SNP	G	G	A	rs147547638	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51361525G>A	ENST00000326003.2	+	3	488	c.447G>A	c.(445-447)ggG>ggA	p.G149G	KLK3_ENST00000593997.1_Silent_p.G149G|KLK3_ENST00000360617.3_Silent_p.G149G|KLK3_ENST00000597483.1_Silent_p.G106G|KLK3_ENST00000595952.1_Silent_p.G106G	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	149	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CAGCACTGGGGACCACCTGCT	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		18943	0.0		0.002	False		,,,				2504	0.0				Colon(185;1767 2023 13025 30120 37630)	uc002pts.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(445-447)GGG>GGA		prostate specific antigen isoform 3		G	,,	2,4404	4.2+/-10.8	0,2,2201	57.0	54.0	55.0		447,318,447	0.1	0.0	19	dbSNP_134	55	28,8572	20.4+/-63.3	1,26,4273	no	coding-synonymous,coding-synonymous,coding-synonymous	KLK3	NM_001030047.1,NM_001030048.1,NM_001648.2	,,	1,28,6474	AA,AG,GG		0.3256,0.0454,0.2307	,,	149/239,106/219,149/262	51361525	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361525G>A	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.447G>A	19.37:g.51361525G>A						KLK3_uc010ycj.1_Intron|KLK3_uc002ptr.1_Silent_p.G106G|KLK3_uc010eof.1_RNA	p.G149G	NM_001030047	NP_001025218	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	488	+		all_neural(266;0.057)	149			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	ENST00000326003.2	37	c.447G>A	CCDS12807.1																																																																																				0.652	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		29	37	0	0	0	0	29	37				
KLK13	26085	broad.mit.edu	37	19	51563854	51563854	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51563854C>T	ENST00000595793.1	-	2	117	c.75G>A	c.(73-75)aaG>aaA	p.K25K	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Silent_p.K25K|KLK13_ENST00000595547.1_Silent_p.K25K	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	25					protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGTTGAGAACCTTGGAAGACT	0.577																																						uc002pvn.2		NA																	0					0						c.(73-75)AAG>AAA		kallikrein 13 precursor							101.0	105.0	104.0					19																	51563854		2203	4300	6503	SO:0001819	synonymous_variant	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563854C>T		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.75G>A	19.37:g.51563854C>T						KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Silent_p.K25K|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Silent_p.K25K	p.K25K	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	2	118	-		all_neural(266;0.026)	25					A7UNK6|Q86VI8|Q9Y433	Silent	SNP	ENST00000595793.1	37	c.75G>A	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	c	10.45	1.353067	0.24512	.	.	ENSG00000167759	ENST00000376799	.	.	.	4.18	4.18	0.49190	.	.	.	.	.	T	0.65606	0.2707	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68872	-0.5294	5	0.87932	D	0	.	9.2819	0.37733	0.2151:0.7849:0.0:0.0	.	.	.	.	S	27	.	ENSP00000365995:G27S	G	-	1	0	KLK13	56255666	1.000000	0.71417	0.999000	0.59377	0.119000	0.20118	1.066000	0.30604	2.166000	0.68216	0.609000	0.83330	GGT		0.577	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		64	109	0	0	0	0	64	109				
SIGLEC10	89790	broad.mit.edu	37	19	51918579	51918579	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51918579C>T	ENST00000339313.5	-	7	1302	c.1186G>A	c.(1186-1188)Gga>Aga	p.G396R	CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G338R|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G248R|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G306R|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.G396R|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G396R|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G338R|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G313R|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G348R			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	396	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGAACCTGTCCCCTCTGGGTC	0.657																																						uc002pwo.2		NA																	0				skin(1)	1						c.(1186-1188)GGA>AGA		sialic acid binding Ig-like lectin 10 precursor							34.0	37.0	36.0					19																	51918579		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918579C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1186G>A	19.37:g.51918579C>T	ENSP00000345243:p.Gly396Arg					SIGLEC10_uc002pwp.2_Missense_Mutation_p.G338R|SIGLEC10_uc002pwq.2_Missense_Mutation_p.G338R|SIGLEC10_uc002pwr.2_Missense_Mutation_p.G396R|SIGLEC10_uc010ycy.1_Missense_Mutation_p.G306R|SIGLEC10_uc010ycz.1_Missense_Mutation_p.G348R|SIGLEC10_uc010eow.2_Missense_Mutation_p.G208R|SIGLEC10_uc002pws.1_Missense_Mutation_p.G232R	p.G396R	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	7	1802	-		all_neural(266;0.0199)	396			Ig-like C2-type 3.|Extracellular (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1186G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	6.659	0.490158	0.12702	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;2.39;1.81;1.81;2.39;1.81;2.39	4.61	-4.01	0.04045	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	3.276290	0.00567	N	0.000300	T	0.42539	0.1207	M	0.68593	2.085	0.09310	N	1	P;D;D;D;D;D;B;P	0.76494	0.885;0.999;0.985;0.996;0.981;0.996;0.168;0.912	P;D;D;D;P;D;B;P	0.72625	0.665;0.978;0.925;0.969;0.876;0.965;0.041;0.582	T	0.49542	-0.8929	10	0.62326	D	0.03	.	1.7109	0.02891	0.1441:0.379:0.146:0.3309	.	348;306;396;248;396;338;338;396	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	R	396;313;248;396;338;306;338;348;396	ENSP00000342389:G396R;ENSP00000396742:G313R;ENSP00000395475:G248R;ENSP00000348646:G396R;ENSP00000408387:G338R;ENSP00000431444:G306R;ENSP00000389132:G338R;ENSP00000414324:G348R;ENSP00000345243:G396R	ENSP00000345243:G396R	G	-	1	0	SIGLEC10	56610391	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.258000	0.02863	-0.939000	0.03709	-0.379000	0.06801	GGA		0.657	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		19	42	0	0	0	0	19	42				
SIGLEC10	89790	broad.mit.edu	37	19	51919992	51919992	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51919992C>T	ENST00000339313.5	-	3	750	c.634G>A	c.(634-636)Gac>Aac	p.D212N	CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.D154N|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.D154N|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.D212N|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.D212N|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.D212N|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.D154N|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.D164N			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	212	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGGTGAGGTCGGTGTTGTGG	0.632																																						uc002pwo.2		NA																	0				skin(1)	1						c.(634-636)GAC>AAC		sialic acid binding Ig-like lectin 10 precursor							123.0	97.0	106.0					19																	51919992		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51919992C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.634G>A	19.37:g.51919992C>T	ENSP00000345243:p.Asp212Asn					SIGLEC10_uc002pwp.2_Missense_Mutation_p.D154N|SIGLEC10_uc002pwq.2_Missense_Mutation_p.D154N|SIGLEC10_uc002pwr.2_Missense_Mutation_p.D212N|SIGLEC10_uc010ycy.1_Missense_Mutation_p.D212N|SIGLEC10_uc010ycz.1_Missense_Mutation_p.D164N|SIGLEC10_uc010eow.2_5'UTR|SIGLEC10_uc002pws.1_Missense_Mutation_p.D138N	p.D212N	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	3	1250	-		all_neural(266;0.0199)	212			Extracellular (Potential).|Ig-like C2-type 1.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.634G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	4.365	0.067182	0.08388	.	.	ENSG00000142512	ENST00000353836;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627;ENST00000530476	T;D;T;D;T;D;D;T;D;T	0.85339	-0.86;-1.97;-0.86;-1.97;-0.86;-1.97;-1.97;-0.86;-1.97;-0.86	4.69	-4.54	0.03452	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.142890	0.06442	N	0.726048	T	0.54983	0.1892	N	0.01624	-0.795	0.09310	N	1	B;B;B;B;B;B;B	0.29162	0.038;0.235;0.167;0.017;0.209;0.002;0.005	B;B;B;B;B;B;B	0.21708	0.007;0.032;0.011;0.012;0.036;0.001;0.012	T	0.52909	-0.8512	10	0.10636	T	0.68	.	4.9306	0.13916	0.0:0.2304:0.3227:0.4469	.	164;212;154;212;154;154;212	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	N	212;154;212;154;212;154;164;212;26;179	ENSP00000342389:D212N;ENSP00000395475:D154N;ENSP00000348646:D212N;ENSP00000408387:D154N;ENSP00000431444:D212N;ENSP00000389132:D154N;ENSP00000414324:D164N;ENSP00000345243:D212N;ENSP00000435281:D26N;ENSP00000433838:D179N	ENSP00000345243:D212N	D	-	1	0	SIGLEC10	56611804	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-0.725000	0.04942	-0.489000	0.06716	-1.745000	0.00682	GAC		0.632	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		26	32	0	0	0	0	26	32				
FPR2	2358	broad.mit.edu	37	19	52272633	52272633	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52272633G>A	ENST00000598776.1	+	2	1494	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	FPR2_ENST00000340023.6_Missense_Mutation_p.R241Q|FPR2_ENST00000598953.1_Missense_Mutation_p.R241Q	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	241					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CGTCCCTTACGGGTCCTCACT	0.493																																						uc002pxr.2		NA																	0				lung(3)|ovary(1)	4						c.(721-723)CGG>CAG		formyl peptide receptor-like 1							161.0	128.0	139.0					19																	52272633		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272633G>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.722G>A	19.37:g.52272633G>A	ENSP00000468897:p.Arg241Gln					FPR2_uc002pxs.3_Missense_Mutation_p.R241Q|FPR2_uc010epf.2_Missense_Mutation_p.R241Q	p.R241Q	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	767	+			241			Cytoplasmic (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.722G>A	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	19.13	3.768060	0.69878	.	.	ENSG00000171049	ENST00000340023	T	0.39592	1.07	3.79	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.081350	0.48286	U	0.000198	T	0.57666	0.2069	M	0.85777	2.775	0.19300	N	0.999978	D	0.61697	0.99	P	0.57057	0.812	T	0.50693	-0.8798	10	0.62326	D	0.03	.	9.065	0.36458	0.116:0.0:0.884:0.0	.	241	P25090	FPR2_HUMAN	Q	241	ENSP00000340191:R241Q	ENSP00000340191:R241Q	R	+	2	0	FPR2	56964445	0.010000	0.17322	0.238000	0.24106	0.947000	0.59692	1.003000	0.29809	2.142000	0.66516	0.484000	0.47621	CGG		0.493	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		11	64	0	0	0	0	11	64				
FPR3	2359	broad.mit.edu	37	19	52327767	52327767	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52327767C>T	ENST00000339223.4	+	2	945	c.766C>T	c.(766-768)Cct>Tct	p.P256S	FPR3_ENST00000595991.1_Missense_Mutation_p.P256S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	256					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTGTTGGTTCCCTTATGAACT	0.423																																						uc002pxt.1		NA																	0				lung(4)|breast(1)|skin(1)	6						c.(766-768)CCT>TCT		formyl peptide receptor-like 2							155.0	136.0	143.0					19																	52327767		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327767C>T		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.766C>T	19.37:g.52327767C>T	ENSP00000341821:p.Pro256Ser						p.P256S	NM_002030	NP_002021	P25089	FPR3_HUMAN			2	950	+			256			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000339223.4	37	c.766C>T	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.234543	0.39498	.	.	ENSG00000187474	ENST00000339223	T	0.80304	-1.36	2.2	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.91965	0.7455	H	0.98883	4.36	0.30020	N	0.814423	D	0.67145	0.996	D	0.74023	0.982	D	0.86160	0.1593	10	0.87932	D	0	.	6.646	0.22934	0.0:0.8375:0.0:0.1625	.	256	P25089	FPR3_HUMAN	S	256	ENSP00000341821:P256S	ENSP00000341821:P256S	P	+	1	0	FPR3	57019579	1.000000	0.71417	0.655000	0.29622	0.452000	0.32318	4.876000	0.63079	0.273000	0.22049	0.313000	0.20887	CCT		0.423	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		16	95	0	0	0	0	16	95				
ZNF577	84765	broad.mit.edu	37	19	52376138	52376138	+	Missense_Mutation	SNP	G	G	A	rs139133866		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52376138G>A	ENST00000301399.5	-	7	1470	c.1105C>T	c.(1105-1107)Ctc>Ttc	p.L369F	ZNF577_ENST00000451628.2_Missense_Mutation_p.L310F|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.L310F|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTTTAATGAGGACTGACATG	0.448																																						uc010yde.1		NA																	0				ovary(1)	1						c.(1105-1107)CTC>TTC		zinc finger protein 577 isoform a		G	PHE/LEU,PHE/LEU	1,4405		0,1,2202	85.0	88.0	87.0		928,1105	3.1	0.1	19	dbSNP_134	87	0,8600		0,0,4300	no	missense,missense	ZNF577	NM_001135590.1,NM_032679.2	22,22	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	310/427,369/486	52376138	1,13005	2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376138G>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1105C>T	19.37:g.52376138G>A	ENSP00000301399:p.Leu369Phe					ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Missense_Mutation_p.L310F|ZNF577_uc002pxv.2_Missense_Mutation_p.L362F|ZNF577_uc002pxw.2_Missense_Mutation_p.L303F	p.L369F	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	7	1496	-		all_neural(266;0.0602)	369			C2H2-type 8.		A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.1105C>T	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	8.403	0.842415	0.16963	2.27E-4	0.0	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	3.06	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30230	0.0758	L	0.52573	1.65	0.09310	N	0.999994	D;D	0.89917	1.0;0.981	D;P	0.71414	0.973;0.746	T	0.04781	-1.0927	9	0.72032	D	0.01	.	13.359	0.60644	0.0:0.0:1.0:0.0	.	369;310	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	F	369;310;310;369	ENSP00000301399:L369F;ENSP00000413476:L310F;ENSP00000389652:L310F;ENSP00000404509:L369F	ENSP00000301399:L369F	L	-	1	0	ZNF577	57067950	0.858000	0.29795	0.050000	0.19076	0.028000	0.11728	1.845000	0.39279	1.678000	0.50952	0.655000	0.94253	CTC		0.448	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		35	99	0	0	0	0	35	99				
ZNF615	284370	broad.mit.edu	37	19	52496734	52496734	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52496734C>T	ENST00000602063.1	-	6	1944	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	ZNF615_ENST00000598071.1_Missense_Mutation_p.R543Q|ZNF615_ENST00000376716.5_Missense_Mutation_p.R532Q|ZNF615_ENST00000391795.3_Missense_Mutation_p.R537Q|ZNF615_ENST00000594083.1_Missense_Mutation_p.R543Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R543Q(2)|p.R532Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTATGAGTTCGTTGATGTCC	0.443																																						uc002pye.1		NA																	4	Substitution - Missense(4)		large_intestine(2)|endometrium(2)	ovary(4)|skin(1)	5						c.(1594-1596)CGA>CAA		zinc finger protein 615							122.0	109.0	113.0					19																	52496734		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496734C>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1595G>A	19.37:g.52496734C>T	ENSP00000473089:p.Arg532Gln					ZNF615_uc002pyf.1_Missense_Mutation_p.R543Q|ZNF615_uc002pyg.1_Missense_Mutation_p.R424Q|ZNF615_uc002pyh.1_Missense_Mutation_p.R543Q|ZNF615_uc010epi.1_Missense_Mutation_p.R539Q|ZNF615_uc010ydg.1_Missense_Mutation_p.R537Q	p.R532Q	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1887	-		all_neural(266;0.117)	532			C2H2-type 12.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1595G>A	CCDS12846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.252389|3.252389	0.59212|0.59212	.|.	.|.	ENSG00000197619|ENSG00000197619	ENST00000391793|ENST00000376716;ENST00000354939;ENST00000391795	.|T;T	.|0.24723	.|1.84;1.84	3.08|3.08	3.08|3.08	0.35506|0.35506	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.43809	.|0.1264	L|L	0.56340|0.56340	1.77|1.77	0.09310|0.09310	N|N	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.66497	.|0.944;0.936;0.936;0.944	.|T	.|0.20739	.|-1.0266	.|9	.|0.66056	.|D	.|0.02	.|.	13.3885|13.3885	0.60809|0.60809	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|537;539;543;532	.|B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.|.;.;.;ZN615_HUMAN	.|Q	-1|532;542;537	.|ENSP00000365906:R532Q;ENSP00000375672:R537Q	.|ENSP00000347019:R542Q	.|R	-|-	.|2	.|0	ZNF615|ZNF615	57188546|57188546	0.000000|0.000000	0.05858|0.05858	0.807000|0.807000	0.32361|0.32361	0.994000|0.994000	0.84299|0.84299	-0.493000|-0.493000	0.06459|0.06459	1.703000|1.703000	0.51240|0.51240	0.591000|0.591000	0.81541|0.81541	.|CGA		0.443	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		25	160	0	0	0	0	25	160				
ZNF578	147660	broad.mit.edu	37	19	53015077	53015077	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53015077A>G	ENST00000421239.2	+	6	1687	c.1443A>G	c.(1441-1443)aaA>aaG	p.K481K	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CTGGAGAGAAACCTTACAAGT	0.388																																						uc002pzp.3		NA																	0					0						c.(1441-1443)AAA>AAG		zinc finger protein 578							68.0	71.0	70.0					19																	53015077		2203	4300	6503	SO:0001819	synonymous_variant	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53015077A>G	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1443A>G	19.37:g.53015077A>G							p.K481K	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1687	+			256					B4DR51|I3L1Y6	Silent	SNP	ENST00000421239.2	37	c.1443A>G	CCDS54310.1																																																																																				0.388	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		30	90	0	0	0	0	30	90				
ZNF808	388558	broad.mit.edu	37	19	53050850	53050850	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53050850G>T	ENST00000359798.4	+	4	329	c.149G>T	c.(148-150)aGg>aTg	p.R50M		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GCTTTGTACAGGGAAGTGATG	0.483																																						uc010epq.1		NA																	0					0						c.(148-150)AGG>ATG		zinc finger protein 808							111.0	115.0	113.0					19																	53050850		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53050850G>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.149G>T	19.37:g.53050850G>T	ENSP00000352846:p.Arg50Met					ZNF808_uc002pzq.2_Intron	p.R50M	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	4	326	+			50			KRAB.		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.149G>T	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	8.109	0.778471	0.16120	.	.	ENSG00000198482	ENST00000359798;ENST00000465448;ENST00000461779;ENST00000461321	T;T;T;T	0.02787	4.16;4.16;4.16;4.16	2.36	0.0459	0.14231	Krueppel-associated box (4);	.	.	.	.	T	0.13372	0.0324	M	0.91561	3.22	0.09310	N	1	D	0.58620	0.983	P	0.61800	0.894	T	0.04565	-1.0942	9	0.54805	T	0.06	.	5.7835	0.18320	0.5858:0.0:0.4142:0.0	.	50	Q8N4W9	ZN808_HUMAN	M	50	ENSP00000352846:R50M;ENSP00000419291:R50M;ENSP00000417727:R50M;ENSP00000418696:R50M	ENSP00000352846:R50M	R	+	2	0	ZNF808	57742662	0.113000	0.22115	0.553000	0.28255	0.234000	0.25298	-0.190000	0.09615	-0.173000	0.10761	0.289000	0.19496	AGG		0.483	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		27	240	1	0	1.77e-15	1.83e-15	27	240				
ZNF320	162967	broad.mit.edu	37	19	53383907	53383907	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53383907G>A	ENST00000595635.1	-	8	1973	c.1472C>T	c.(1471-1473)cCt>cTt	p.P491L	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.P491L	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GTCTCCAAAAGGAATTTTCTG	0.393																																						uc002qag.2		NA																	0					0						c.(1471-1473)CCT>CTT		zinc finger protein 320							85.0	78.0	80.0					19																	53383907		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53383907G>A	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1472C>T	19.37:g.53383907G>A	ENSP00000473091:p.Pro491Leu					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.P437L|ZNF320_uc002qai.2_Missense_Mutation_p.P491L	p.P491L	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1663	-			491			C2H2-type 12; degenerate.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1472C>T	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	11.84	1.759665	0.31137	.	.	ENSG00000182986	ENST00000391781	T	0.26810	1.71	1.64	0.458	0.16670	Zinc finger, C2H2 (1);	.	.	.	.	T	0.11793	0.0287	N	0.08118	0	0.24777	N	0.992837	B	0.28636	0.218	B	0.24006	0.05	T	0.22521	-1.0214	9	0.87932	D	0	.	6.4159	0.21715	0.0:0.0:0.2597:0.7403	.	491	A2RRD8	ZN320_HUMAN	L	491	ENSP00000375660:P491L	ENSP00000375660:P491L	P	-	2	0	ZNF320	58075719	0.589000	0.26807	0.007000	0.13788	0.492000	0.33523	1.126000	0.31344	-0.087000	0.12528	0.194000	0.17425	CCT		0.393	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		9	87	0	0	0	0	9	87				
ZNF665	79788	broad.mit.edu	37	19	53668984	53668984	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53668984C>T	ENST00000600412.1	-	2	679	c.564G>A	c.(562-564)caG>caA	p.Q188Q	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Silent_p.Q253Q			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TATGAATTCTCTGATGACCTG	0.403																																						uc010eqm.1		NA																	0				ovary(2)	2						c.(757-759)CAG>CAA		zinc finger protein 665							101.0	111.0	107.0					19																	53668984		2203	4300	6503	SO:0001819	synonymous_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668984C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.564G>A	19.37:g.53668984C>T							p.Q253Q	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	859	-			188			C2H2-type 3.		A8K5T8	Silent	SNP	ENST00000600412.1	37	c.759G>A																																																																																					0.403	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		26	172	0	0	0	0	26	172				
ZNF765	91661	broad.mit.edu	37	19	53911563	53911563	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53911563T>A	ENST00000396408.3	+	4	872	c.755T>A	c.(754-756)tTt>tAt	p.F252Y	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	252					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(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GGCAAGGTCTTTAATTCGAAG	0.403																																						uc010ydx.1		NA																	0					0						c.(754-756)TTT>TAT		zinc finger protein 765							109.0	106.0	107.0					19																	53911563		2201	4300	6501	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911563T>A	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.755T>A	19.37:g.53911563T>A	ENSP00000379689:p.Phe252Tyr					ZNF765_uc002qbm.2_Missense_Mutation_p.F252Y|ZNF765_uc002qbn.2_Intron	p.F252Y	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	6	1082	+			252			C2H2-type 2.		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.755T>A	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.134956	0.56828	.	.	ENSG00000196417	ENST00000396408	T	0.40476	1.03	0.998	0.998	0.19857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56775	0.2008	M	0.66378	2.025	0.24389	N	0.99476	D	0.89917	1.0	D	0.91635	0.999	T	0.40515	-0.9559	8	.	.	.	.	6.9157	0.24359	0.0:0.0:0.0:1.0	.	252	Q7L2R6	ZN765_HUMAN	Y	252	ENSP00000379689:F252Y	.	F	+	2	0	ZNF765	58603375	0.998000	0.40836	0.008000	0.14137	0.055000	0.15305	5.109000	0.64615	0.376000	0.24707	0.147000	0.16070	TTT		0.403	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		16	137	0	0	0	0	16	137				
NLRP12	91662	broad.mit.edu	37	19	54327227	54327227	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54327227C>T	ENST00000324134.6	-	1	370	c.202G>A	c.(202-204)Gag>Aag	p.E68K	NLRP12_ENST00000391775.3_Missense_Mutation_p.E68K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E68K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E68K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E68K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E68K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E68K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E68K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	68	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTCCAGGCCTCCTCTGGCCCG	0.617																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(202-204)GAG>AAG		NLR family, pyrin domain containing 12 isoform							89.0	88.0	88.0					19																	54327227		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54327227C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.202G>A	19.37:g.54327227C>T	ENSP00000319377:p.Glu68Lys					NLRP12_uc002qci.3_Missense_Mutation_p.E68K|NLRP12_uc002qcj.3_Missense_Mutation_p.E68K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.E68K	p.E68K	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	1	422	-	Ovarian(34;0.19)		68			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.202G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	4.845	0.156999	0.09236	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.7	-0.324	0.12706	Pyrin (2);DEATH-like (2);	1.021600	0.07858	N	0.965798	T	0.35682	0.0940	L	0.40543	1.245	0.09310	N	1	P;P;P;B	0.43578	0.454;0.698;0.811;0.309	B;B;B;B	0.43838	0.266;0.341;0.433;0.126	T	0.12451	-1.0547	10	0.02654	T	1	.	8.1507	0.31139	0.0:0.4457:0.4636:0.0908	.	68;68;68;68	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	K	68	ENSP00000319377:E68K;ENSP00000438030:E68K;ENSP00000340473:E68K;ENSP00000346231:E68K;ENSP00000375655:E68K;ENSP00000375653:E68K;ENSP00000375652:E68K	ENSP00000319377:E68K	E	-	1	0	NLRP12	59019039	0.004000	0.15560	0.009000	0.14445	0.080000	0.17528	0.435000	0.21510	-0.109000	0.12044	0.305000	0.20034	GAG		0.617	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		26	156	0	0	0	0	26	156				
PRKCG	5582	broad.mit.edu	37	19	54394978	54394978	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54394978C>T	ENST00000263431.3	+	6	862	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	PRKCG_ENST00000542049.1_Missense_Mutation_p.P81S|PRKCG_ENST00000536044.1_Missense_Mutation_p.P194S|PRKCG_ENST00000540413.1_Missense_Mutation_p.P194S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	194	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TCTCTCTGATCCCTATGTGAA	0.532																																						uc002qcq.1		NA																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(580-582)CCC>TCC		protein kinase C, gamma							149.0	134.0	139.0					19																	54394978		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54394978C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.580C>T	19.37:g.54394978C>T	ENSP00000263431:p.Pro194Ser					PRKCG_uc010eqz.1_Missense_Mutation_p.P194S|PRKCG_uc010yef.1_Missense_Mutation_p.P194S|PRKCG_uc010yeg.1_Missense_Mutation_p.P194S|PRKCG_uc010yeh.1_Missense_Mutation_p.P81S	p.P194S	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	6	862	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		194			C2.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.580C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008587	0.93346	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.25	5.25	0.73442	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.90435	0.7005	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;1.0;0.999;1.0	D	0.92093	0.5682	9	0.66056	D	0.02	.	16.7114	0.85386	0.0:1.0:0.0:0.0	.	81;194;194;194;194	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	S	194;194;194;81	ENSP00000440541:P194S;ENSP00000443493:P194S;ENSP00000263431:P194S;ENSP00000438090:P81S	ENSP00000263431:P194S	P	+	1	0	PRKCG	59086790	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.232000	0.78116	2.628000	0.89032	0.561000	0.74099	CCC		0.532	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		74	164	0	0	0	0	74	164				
CACNG7	59284	broad.mit.edu	37	19	54444857	54444857	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54444857C>T	ENST00000391767.1	+	5	770	c.558C>T	c.(556-558)ttC>ttT	p.F186F	CACNG7_ENST00000391766.1_Silent_p.F186F|CACNG7_ENST00000222212.2_Silent_p.F186F			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	186					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTTCCTCCTTCCTACTCAAAG	0.547																																						uc002qcr.1		NA																	0				ovary(1)	1						c.(556-558)TTC>TTT		voltage-dependent calcium channel gamma-7							138.0	124.0	129.0					19																	54444857		2203	4300	6503	SO:0001819	synonymous_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54444857C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.558C>T	19.37:g.54444857C>T						CACNG7_uc010era.1_Silent_p.F186F	p.F186F	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	4	573	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		186			Helical; (Potential).		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	c.558C>T	CCDS12868.1																																																																																				0.547	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			39	108	0	0	0	0	39	108				
LILRB5	10990	broad.mit.edu	37	19	54760510	54760510	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54760510G>A	ENST00000316219.5	-	3	304	c.197C>T	c.(196-198)cCa>cTa	p.P66L	LILRB5_ENST00000345866.6_Missense_Mutation_p.P66L|LILRB5_ENST00000450632.1_Missense_Mutation_p.P66L|LILRB5_ENST00000449561.2_Missense_Mutation_p.P66L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	66	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCGGGCCCATGGGAGTCCCTC	0.617																																						uc002qex.2		NA																	0				ovary(1)|pancreas(1)	2						c.(196-198)CCA>CTA		leukocyte immunoglobulin-like receptor,							167.0	160.0	162.0					19																	54760510		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760510G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.197C>T	19.37:g.54760510G>A	ENSP00000320390:p.Pro66Leu					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.P66L|LILRB5_uc002qey.2_Missense_Mutation_p.P66L|LILRB5_uc002qez.2_Missense_Mutation_p.P66L|LILRB5_uc002qfa.1_Missense_Mutation_p.P56L|LILRB5_uc010yes.1_RNA	p.P66L	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	308	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		66			Ig-like C2-type 1.|Extracellular (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.197C>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305878	0.40795	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	2.87	-2.85	0.05734	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.942260	0.01118	N	0.005736	T	0.11196	0.0273	L	0.35723	1.085	0.09310	N	1	P;P;P;P;B	0.48694	0.914;0.838;0.641;0.641;0.162	P;P;B;B;B	0.48368	0.575;0.532;0.349;0.306;0.109	T	0.13045	-1.0524	10	0.38643	T	0.18	.	1.2729	0.02025	0.1271:0.1847:0.3128:0.3755	.	66;57;66;66;66	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	L	66	ENSP00000320390:P66L;ENSP00000414225:P66L;ENSP00000406478:P66L;ENSP00000263430:P66L	ENSP00000320390:P66L	P	-	2	0	LILRB5	59452322	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.966000	0.03825	-0.619000	0.05648	-1.153000	0.01818	CCA		0.617	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			95	118	0	0	0	0	95	118				
LILRA3	11026	broad.mit.edu	37	19	54802615	54802615	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54802615C>T	ENST00000251390.3	-	5	917	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	LILRA3_ENST00000391744.3_Missense_Mutation_p.G212R|LILRA3_ENST00000391745.1_Missense_Mutation_p.G293R	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	276	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGAGAGCCCAGCCTGGGGC	0.642																																						uc002qfd.2		NA																	0				ovary(1)	1						c.(826-828)GGG>AGG		leukocyte immunoglobulin-like receptor,							41.0	41.0	41.0					19																	54802615		2195	4173	6368	SO:0001583	missense	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54802615C>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.826G>A	19.37:g.54802615C>T	ENSP00000251390:p.Gly276Arg					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.G212R	p.G276R	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	891	-	Ovarian(34;0.19)		276			Ig-like C2-type 3.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.826G>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346107	0.41599	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00824	5.65;5.65;5.65	2.03	-1.22	0.09494	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.474098	0.17555	N	0.170035	T	0.03348	0.0097	M	0.77712	2.385	0.09310	N	1	D;D	0.89917	0.985;1.0	P;D	0.97110	0.81;1.0	T	0.30822	-0.9965	10	0.66056	D	0.02	.	3.9019	0.09166	0.0:0.4825:0.3514:0.1661	.	276;276	E7EU74;Q8N6C8	.;LIRA3_HUMAN	R	276;212;293	ENSP00000251390:G276R;ENSP00000375624:G212R;ENSP00000375625:G293R	ENSP00000251390:G276R	G	-	1	0	LILRA3	59494427	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.220000	0.09215	-0.131000	0.11578	0.586000	0.80456	GGG		0.642	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			15	100	0	0	0	0	15	100				
LILRA4	23547	broad.mit.edu	37	19	54848307	54848307	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54848307G>A	ENST00000291759.4	-	6	1116	c.1060C>T	c.(1060-1062)Ctt>Ttt	p.L354F	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	354	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TTGGTCAGAAGGAAAGTGAAC	0.587																																						uc002qfj.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(1060-1062)CTT>TTT		leukocyte immunoglobulin-like receptor subfamily							127.0	120.0	123.0					19																	54848307		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848307G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1060C>T	19.37:g.54848307G>A	ENSP00000291759:p.Leu354Phe					LILRA4_uc002qfi.2_Missense_Mutation_p.L288F	p.L354F	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	6	1117	-	Ovarian(34;0.19)		354			Ig-like C2-type 4.|Extracellular (Potential).		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.1060C>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	11.92	1.781862	0.31502	.	.	ENSG00000239961	ENST00000291759	T	0.03358	3.96	2.51	0.131	0.14755	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.756797	0.11221	N	0.586645	T	0.05090	0.0136	L	0.43646	1.37	0.09310	N	1	P	0.36027	0.533	P	0.44921	0.464	T	0.41052	-0.9530	10	0.45353	T	0.12	.	2.8788	0.05640	0.1609:0.0:0.5679:0.2712	.	354	P59901	LIRA4_HUMAN	F	354	ENSP00000291759:L354F	ENSP00000291759:L354F	L	-	1	0	LILRA4	59540119	0.000000	0.05858	0.075000	0.20258	0.041000	0.13682	0.050000	0.14120	0.112000	0.17975	0.455000	0.32223	CTT		0.587	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		22	151	0	0	0	0	22	151				
LENG9	94059	broad.mit.edu	37	19	54973853	54973853	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54973853G>A	ENST00000333834.4	-	1	1041	c.923C>T	c.(922-924)gCc>gTc	p.A308V		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	308							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		ACTAAGGCGGGCCCTTTTGTC	0.667																																						uc010yez.1		NA																	0					0						c.(922-924)GCC>GTC		leukocyte receptor cluster (LRC) member 9							39.0	40.0	40.0					19																	54973853		2203	4300	6503	SO:0001583	missense	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973853G>A	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.923C>T	19.37:g.54973853G>A	ENSP00000331647:p.Ala308Val						p.A308V	NM_198988	NP_945339	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	1042	-	Ovarian(34;0.19)		308					B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	c.923C>T	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	G	9.952	1.220386	0.22457	.	.	ENSG00000182909	ENST00000333834	T	0.30182	1.54	2.96	-1.11	0.09840	.	1.766790	0.03647	U	0.240422	T	0.20251	0.0487	N	0.24115	0.695	0.09310	N	1	B	0.27498	0.18	B	0.27170	0.077	T	0.19679	-1.0298	10	0.30854	T	0.27	.	5.6383	0.17548	0.0:0.179:0.3259:0.4952	.	308	Q96B70	LENG9_HUMAN	V	308	ENSP00000331647:A308V	ENSP00000331647:A308V	A	-	2	0	LENG9	59665665	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.960000	0.03849	-0.118000	0.11851	0.555000	0.69702	GCC		0.667	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		9	47	0	0	0	0	9	47				
LILRA2	11027	broad.mit.edu	37	19	55086387	55086388	+	Missense_Mutation	DNP	CC	CC	TT	rs551481305		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55086387_55086388CC>TT	ENST00000251377.3	+	5	675_676	c.542_543CC>TT	c.(541-543)tCC>tTT	p.S181F	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S169F|LILRA2_ENST00000391738.3_Missense_Mutation_p.S181F|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S181F			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	181	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S181S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCCATCTTCTCCGTGGGCCCCG	0.569																																						uc002qgg.3		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)	1						c.(541-543)TCC>TTT		leukocyte immunoglobulin-like receptor,																																				SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086387_55086388CC>TT	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	Exception_encountered	19.37:g.55086387_55086388delinsTT	ENSP00000251377:p.Ser181Phe					LILRA2_uc010ern.2_Missense_Mutation_p.S181F|LILRA2_uc002qgf.2_Missense_Mutation_p.S181F|LILRA2_uc010yfe.1_Missense_Mutation_p.S181F|LILRA2_uc010yff.1_Missense_Mutation_p.S169F|LILRA2_uc010ero.2_Missense_Mutation_p.S169F|LILRA2_uc010yfg.1_Missense_Mutation_p.S181F	p.S181F	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	4	631_632	+			181			Extracellular (Potential).|Ig-like C2-type 2.		O75020	Missense_Mutation	DNP	ENST00000251377.3	37	c.542_543CC>TT	CCDS46179.1																																																																																				0.569	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			66	151	0	0	0	0	66	151				
LILRA1	11024	broad.mit.edu	37	19	55106754	55106754	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55106754C>T	ENST00000251372.3	+	5	730	c.548C>T	c.(547-549)tCt>tTt	p.S183F	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.S183F|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	183	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCATCTTCTCTGTGGGCCCC	0.567																																						uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(547-549)TCT>TTT		leukocyte immunoglobulin-like receptor,							155.0	158.0	157.0					19																	55106754		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106754C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.548C>T	19.37:g.55106754C>T	ENSP00000251372:p.Ser183Phe					LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.S183F	p.S183F	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	730	+			183			Ig-like C2-type 2.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.548C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	9.382	1.073205	0.20147	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.03496	3.91;3.91	2.24	1.13	0.20643	Immunoglobulin-like fold (1);	0.863133	0.09974	N	0.731822	T	0.05318	0.0141	L	0.58583	1.82	0.09310	N	1	B;B	0.32800	0.385;0.056	B;B	0.34722	0.188;0.05	T	0.37314	-0.9711	10	0.66056	D	0.02	.	5.3451	0.16004	0.0:0.8071:0.0:0.1929	.	183;183	O75019-2;O75019	.;LIRA1_HUMAN	F	183	ENSP00000251372:S183F;ENSP00000413715:S183F	ENSP00000251372:S183F	S	+	2	0	LILRA1	59798566	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-1.686000	0.01929	0.226000	0.20979	0.194000	0.17425	TCT		0.567	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		107	144	0	0	0	0	107	144				
KIR3DL1	3811	broad.mit.edu	37	19	55340822	55340822	+	Missense_Mutation	SNP	C	C	T	rs1130462		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55340822C>T	ENST00000391728.4	+	7	1040	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P241L|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P319L|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P319L|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P336L	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	336					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGTAACCCCAGACACCTG	0.433													t|||	1	0.000199681	0.0008	0.0	5008	,	,		15931	0.0		0.0	False		,,,				2504	0.0					uc002qhk.3		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1006-1008)CCC>CTC		killer cell immunoglobulin-like receptor, three		C	LEU/PRO	2,4350		0,2,2174	266.0	205.0	226.0		1007	-1.5	0.0	19	dbSNP_86	226	0,8308		0,0,4154	no	missense	KIR3DL1	NM_013289.2	98	0,2,6328	TT,TC,CC		0.0,0.046,0.0158		336/445	55340822	2,12658	2176	4154	6330	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55340822C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1007C>T	19.37:g.55340822C>T	ENSP00000375608:p.Pro336Leu					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.P261L|KIR3DL1_uc010esf.2_Missense_Mutation_p.P241L|KIR3DL1_uc010yfo.1_Missense_Mutation_p.P278L|KIR3DL1_uc002qhl.3_Intron	p.P336L	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	1070	+			336			Extracellular (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1007C>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	2.646	-0.283135	0.05642	4.6E-4	0.0	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00492	7.14;7.01;7.14;7.01;7.17	0.743	-1.49	0.08718	.	.	.	.	.	T	0.00524	0.0017	M	0.70842	2.15	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.41088	-0.9528	9	0.87932	D	0	.	4.0345	0.09724	0.0:0.4795:0.0:0.5205	rs1130462;rs3189349;rs17412942;rs45491700	319;241;336	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	L	336;319;314;336;319;241	ENSP00000443350:P336L;ENSP00000442355:P319L;ENSP00000375608:P336L;ENSP00000326868:P319L;ENSP00000350901:P241L	ENSP00000326868:P319L	P	+	2	0	KIR3DL1	60032634	0.000000	0.05858	0.005000	0.12908	0.037000	0.13140	-0.934000	0.03955	-0.716000	0.04962	0.184000	0.17185	CCC		0.433	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		102	60	0	0	0	0	102	60				
NLRP2	55655	broad.mit.edu	37	19	55493546	55493547	+	Nonsense_Mutation	DNP	CA	CA	AC			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55493546_55493547CA>AC	ENST00000543010.1	+	6	623_624	c.480_481CA>AC	c.(478-483)tgCAgg>tgACgg	p.C160*	NLRP2_ENST00000391721.4_Nonsense_Mutation_p.C136*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.C157*|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.C138*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.C136*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.C138*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.C137*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.C160*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	160					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACAATAGGTGCAGGTATATATT	0.45																																						uc002qij.2		NA																	0				ovary(1)|skin(1)	2						c.(478-483)TGCAGG>TGACGG		NLR family, pyrin domain containing 2																																				SO:0001587	stop_gained	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493546_55493547CA>AC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	Exception_encountered	19.37:g.55493546_55493547delinsAC	ENSP00000445135:p.Cys160*					NLRP2_uc010yfp.1_Nonsense_Mutation_p.C137*|NLRP2_uc010esn.2_Nonsense_Mutation_p.C136*|NLRP2_uc010eso.2_Nonsense_Mutation_p.C157*|NLRP2_uc010esp.2_Nonsense_Mutation_p.C138*	p.C160*	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	566_567	+			160					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Nonsense_Mutation	DNP	ENST00000543010.1	37	c.480_481CA>AC	CCDS12913.1																																																																																				0.450	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		131	337	0	0	0	0	131	337				
TNNI3	7137	broad.mit.edu	37	19	55667649	55667649	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55667649G>A	ENST00000344887.5	-	5	344	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	TNNI3_ENST00000590463.1_5'UTR|DNAAF3_ENST00000587789.2_5'Flank|CTD-2587H24.4_ENST00000587871.1_3'UTR|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000588882.1_Missense_Mutation_p.R43W	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	68	Involved in binding TNC.				cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCTCCGCGCCGCTCCTCCGCC	0.682																																						uc002qjg.3		NA																	0				lung(1)|pancreas(1)	2						c.(202-204)CGG>TGG		troponin I, cardiac							8.0	10.0	9.0					19																	55667649		1834	3992	5826	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55667649G>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.202C>T	19.37:g.55667649G>A	ENSP00000341838:p.Arg68Trp					TNNI3_uc010yft.1_Missense_Mutation_p.R60W	p.R68W	NM_000363	NP_000354	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	5	202	-			68			Involved in binding TNC.			Missense_Mutation	SNP	ENST00000344887.5	37	c.202C>T	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519420	0.85495	.	.	ENSG00000129991	ENST00000344887	D	0.92699	-3.09	4.42	4.42	0.53409	.	0.000000	0.49916	D	0.000136	D	0.94719	0.8296	M	0.71206	2.165	0.50313	D	0.999867	D	0.89917	1.0	D	0.68353	0.957	D	0.94864	0.8024	10	0.87932	D	0	-25.6736	11.4321	0.50047	0.0:0.0:0.8191:0.1809	.	68	P19429	TNNI3_HUMAN	W	68	ENSP00000341838:R68W	ENSP00000341838:R68W	R	-	1	2	TNNI3	60359461	0.946000	0.32159	1.000000	0.80357	0.996000	0.88848	0.688000	0.25422	2.200000	0.70718	0.555000	0.69702	CGG		0.682	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			4	44	0	0	0	0	4	44				
FIZ1	84922	broad.mit.edu	37	19	56103957	56103957	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56103957G>A	ENST00000221665.3	-	3	1439	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	450					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGTGGCGGAAGAACTTGCCGC	0.662																																						uc002qli.3		NA																	0					0						c.(1348-1350)TTC>TTT		FLT3-interacting zinc finger 1							32.0	32.0	32.0					19																	56103957		2203	4298	6501	SO:0001819	synonymous_variant	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56103957G>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.1350C>T	19.37:g.56103957G>A						FIZ1_uc002qlj.3_Silent_p.F450F	p.F450F	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	3	1440	-			450			C2H2-type 10.		A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	c.1350C>T	CCDS12928.1																																																																																				0.662	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		3	21	0	0	0	0	3	21				
NLRP9	338321	broad.mit.edu	37	19	56244136	56244136	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56244136C>T	ENST00000332836.2	-	2	1088	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	354	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAGGTCTTCTCCCCTCTCTAG	0.413																																						uc002qly.2		NA																	0				skin(4)|ovary(2)|breast(1)	7						c.(1060-1062)GGA>GAA		NLR family, pyrin domain containing 9							108.0	105.0	106.0					19																	56244136		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244136C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1061G>A	19.37:g.56244136C>T	ENSP00000331857:p.Gly354Glu						p.G354E	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1089	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	354			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1061G>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438065	0.25900	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.83755	-1.76	2.56	2.56	0.30785	.	.	.	.	.	D	0.89368	0.6695	M	0.78285	2.405	0.09310	N	1	D	0.64830	0.994	D	0.69142	0.962	T	0.78947	-0.2003	9	0.45353	T	0.12	.	11.3626	0.49653	0.0:1.0:0.0:0.0	.	354	Q7RTR0	NALP9_HUMAN	E	354	ENSP00000331857:G354E	ENSP00000331857:G354E	G	-	2	0	NLRP9	60935948	0.000000	0.05858	0.005000	0.12908	0.010000	0.07245	-0.039000	0.12124	1.792000	0.52537	0.644000	0.83932	GGA		0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		51	83	0	0	0	0	51	83				
NLRP11	204801	broad.mit.edu	37	19	56297047	56297047	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56297047G>A	ENST00000589093.1	-	10	3139	c.3046C>T	c.(3046-3048)Ccc>Tcc	p.P1016S	NLRP11_ENST00000589824.2_Missense_Mutation_p.P962S|NLRP11_ENST00000592953.1_Missense_Mutation_p.P917S|NLRP11_ENST00000360133.3_Missense_Mutation_p.P962S|NLRP11_ENST00000443188.1_Missense_Mutation_p.P1016S			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	1016							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GACATTCTGGGAAATTTGAAA	0.373																																						uc010ygf.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(3046-3048)CCC>TCC		NLR family, pyrin domain containing 11							89.0	88.0	89.0					19																	56297047		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56297047G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.3046C>T	19.37:g.56297047G>A	ENSP00000466285:p.Pro1016Ser					NLRP11_uc002qlz.2_Missense_Mutation_p.P863S|NLRP11_uc002qmb.2_Missense_Mutation_p.P917S|NLRP11_uc002qmc.2_RNA	p.P1016S	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	12	3757	-		Colorectal(82;0.0002)	1016					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.3046C>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	8.325	0.825268	0.16749	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74002	-0.8;-0.74	1.19	1.19	0.21007	.	.	.	.	.	T	0.60011	0.2236	N	0.08118	0	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.55545	0.604;0.778	T	0.51624	-0.8682	9	0.15952	T	0.53	.	5.753	0.18158	0.0:0.0:1.0:0.0	.	1016;962	P59045;P59045-2	NAL11_HUMAN;.	S	1016;962	ENSP00000409898:P1016S;ENSP00000353251:P962S	ENSP00000353251:P962S	P	-	1	0	NLRP11	60988859	0.159000	0.22864	0.004000	0.12327	0.005000	0.04900	1.371000	0.34250	0.954000	0.37851	0.609000	0.83330	CCC		0.373	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		24	99	0	0	0	0	24	99				
NLRP11	204801	broad.mit.edu	37	19	56319270	56319270	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56319270C>T	ENST00000589093.1	-	4	2045	c.1952G>A	c.(1951-1953)aGg>aAg	p.R651K	NLRP11_ENST00000589824.2_Intron|NLRP11_ENST00000592953.1_Missense_Mutation_p.R552K|NLRP11_ENST00000360133.3_Intron|NLRP11_ENST00000443188.1_Missense_Mutation_p.R651K			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	651							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGACAGAATCCTTTCTGAAAT	0.438																																						uc010ygf.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1951-1953)AGG>AAG		NLR family, pyrin domain containing 11							139.0	137.0	137.0					19																	56319270		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56319270C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1952G>A	19.37:g.56319270C>T	ENSP00000466285:p.Arg651Lys					NLRP11_uc002qlz.2_Intron|NLRP11_uc002qmb.2_Missense_Mutation_p.R552K|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.R651K	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	2663	-		Colorectal(82;0.0002)	651			LRR 2.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1952G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652310	0.29336	.	.	ENSG00000179873	ENST00000443188	T	0.51574	0.7	2.08	-2.07	0.07276	.	.	.	.	.	T	0.15825	0.0381	N	0.03154	-0.405	0.09310	N	1	B	0.26445	0.149	B	0.24394	0.053	T	0.26780	-1.0093	9	0.02654	T	1	.	4.4721	0.11717	0.4412:0.3415:0.2172:0.0	.	651	P59045	NAL11_HUMAN	K	651	ENSP00000409898:R651K	ENSP00000409898:R651K	R	-	2	0	NLRP11	61011082	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.216000	0.01221	-0.359000	0.08150	-0.182000	0.12963	AGG		0.438	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		21	170	0	0	0	0	21	170				
NLRP11	204801	broad.mit.edu	37	19	56320316	56320316	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56320316C>T	ENST00000589093.1	-	3	1753	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	NLRP11_ENST00000589824.2_Missense_Mutation_p.E554K|NLRP11_ENST00000592953.1_Missense_Mutation_p.E455K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E554K|NLRP11_ENST00000443188.1_Missense_Mutation_p.E554K			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	554							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATTCTTCTTCCCGATTCTCA	0.423																																						uc010ygf.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1660-1662)GAA>AAA		NLR family, pyrin domain containing 11							142.0	131.0	135.0					19																	56320316		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320316C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1660G>A	19.37:g.56320316C>T	ENSP00000466285:p.Glu554Lys					NLRP11_uc002qlz.2_Missense_Mutation_p.E455K|NLRP11_uc002qmb.2_Missense_Mutation_p.E455K|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.E554K	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2371	-		Colorectal(82;0.0002)	554					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1660G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	9.233	1.036236	0.19669	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.53206	0.63;0.63	2.2	-0.00797	0.14007	.	.	.	.	.	T	0.37544	0.1007	L	0.48642	1.525	0.09310	N	1	B;B	0.25850	0.136;0.089	B;B	0.29663	0.076;0.105	T	0.40040	-0.9584	9	0.72032	D	0.01	.	4.5426	0.12066	0.0:0.6604:0.0:0.3396	.	554;554	P59045;P59045-2	NAL11_HUMAN;.	K	554	ENSP00000409898:E554K;ENSP00000353251:E554K	ENSP00000353251:E554K	E	-	1	0	NLRP11	61012128	0.030000	0.19436	0.004000	0.12327	0.004000	0.04260	0.530000	0.23036	0.071000	0.16664	-0.150000	0.13652	GAA		0.423	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		32	182	0	0	0	0	32	182				
NLRP4	147945	broad.mit.edu	37	19	56363573	56363573	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56363573C>T	ENST00000301295.6	+	2	549	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	NLRP4_ENST00000346986.5_Missense_Mutation_p.P43S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	43	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAAGCAGATTCCCTGGACTGA	0.413																																						uc002qmd.3		NA																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(127-129)CCC>TCC		NLR family, pyrin domain containing 4							85.0	85.0	85.0					19																	56363573		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56363573C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.127C>T	19.37:g.56363573C>T	ENSP00000301295:p.Pro43Ser						p.P43S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	549	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	43			DAPIN.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.127C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	0.654	-0.808473	0.02819	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.63744	-0.06;-0.06	4.46	1.12	0.20585	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.37489	0.1005	N	0.04959	-0.14	0.23869	N	0.996619	P	0.37370	0.592	B	0.39660	0.306	T	0.22208	-1.0223	9	0.20519	T	0.43	.	6.6258	0.22828	0.0:0.6712:0.0:0.3288	.	43	Q96MN2	NALP4_HUMAN	S	43	ENSP00000301295:P43S;ENSP00000344787:P43S	ENSP00000301295:P43S	P	+	1	0	NLRP4	61055385	0.050000	0.20438	0.295000	0.24960	0.035000	0.12851	0.515000	0.22801	0.198000	0.20407	-0.140000	0.14226	CCC		0.413	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		52	86	0	0	0	0	52	86				
NLRP4	147945	broad.mit.edu	37	19	56370046	56370046	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56370046C>T	ENST00000301295.6	+	3	1709	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	NLRP4_ENST00000346986.5_Silent_p.I429I|NLRP4_ENST00000587891.1_Silent_p.I354I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	429	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACGCTGACATCCCTGCGCTGC	0.557																																						uc002qmd.3		NA																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1285-1287)ATC>ATT		NLR family, pyrin domain containing 4							120.0	116.0	118.0					19																	56370046		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56370046C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1287C>T	19.37:g.56370046C>T						NLRP4_uc002qmf.2_Silent_p.I354I|NLRP4_uc010etf.2_Silent_p.I260I	p.I429I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1709	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	429			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1287C>T	CCDS12936.1																																																																																				0.557	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		55	131	0	0	0	0	55	131				
NLRP13	126204	broad.mit.edu	37	19	56423283	56423283	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56423283G>A	ENST00000342929.3	-	5	1899	c.1900C>T	c.(1900-1902)Cac>Tac	p.H634Y	NLRP13_ENST00000588751.1_Missense_Mutation_p.H634Y	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	634							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGTAGAATGTGAAATTGGAGA	0.408																																						uc010ygg.1		NA																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1900-1902)CAC>TAC		NACHT, leucine rich repeat and PYD containing							100.0	94.0	96.0					19																	56423283		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56423283G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1900C>T	19.37:g.56423283G>A	ENSP00000343891:p.His634Tyr						p.H634Y	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1925	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	634					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1900C>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	5.268	0.234851	0.09969	.	.	ENSG00000173572	ENST00000342929	D	0.87966	-2.32	2.48	0.225	0.15325	.	.	.	.	.	T	0.69015	0.3064	N	0.05124	-0.11	0.09310	N	1	B	0.33345	0.409	B	0.32624	0.149	T	0.61860	-0.6976	9	0.54805	T	0.06	.	3.0967	0.06312	0.0:0.5082:0.3082:0.1836	.	634	Q86W25	NAL13_HUMAN	Y	634	ENSP00000343891:H634Y	ENSP00000343891:H634Y	H	-	1	0	NLRP13	61115095	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.457000	0.06745	0.342000	0.23796	-0.419000	0.06015	CAC		0.408	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		47	70	0	0	0	0	47	70				
NLRP5	126206	broad.mit.edu	37	19	56515092	56515092	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56515092C>T	ENST00000390649.3	+	2	73	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	25					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTTGTCACTCTTTCCACAGG	0.408																																						uc002qmj.2		NA																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(73-75)CTT>TTT		NACHT, LRR and PYD containing protein 5							105.0	100.0	102.0					19																	56515092		1857	4104	5961	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515092C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.73C>T	19.37:g.56515092C>T	ENSP00000375063:p.Leu25Phe					NLRP5_uc002qmi.2_Missense_Mutation_p.L25F	p.L25F	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	2	73	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	25					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.73C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143031	0.37825	.	.	ENSG00000171487	ENST00000390649	T	0.75367	-0.93	2.88	-0.673	0.11373	.	.	.	.	.	T	0.49881	0.1583	N	0.08118	0	0.09310	N	1	B	0.25007	0.116	B	0.21151	0.033	T	0.41858	-0.9485	9	0.87932	D	0	.	5.3585	0.16075	0.0:0.5488:0.0:0.4512	.	25	P59047	NALP5_HUMAN	F	25	ENSP00000375063:L25F	ENSP00000375063:L25F	L	+	1	0	NLRP5	61206904	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.056000	0.11787	-0.038000	0.13624	0.558000	0.71614	CTT		0.408	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		38	103	0	0	0	0	38	103				
GALP	85569	broad.mit.edu	37	19	56691959	56691959	+	Missense_Mutation	SNP	G	G	A	rs149853638		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56691959G>A	ENST00000357330.2	+	3	174	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	GALP_ENST00000440823.1_Intron|GALP_ENST00000590002.1_Intron	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	31					behavioral response to starvation (GO:0042595)|defense response to bacterium (GO:0042742)|neuropeptide signaling pathway (GO:0007218)|regulation of appetite (GO:0032098)|response to insulin (GO:0032868)	extracellular region (GO:0005576)				lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		ATCCAGGGACGAGGAGGCTGG	0.607																																						uc002qmo.1		NA																	0					0						c.(91-93)CGA>CAA		galanin-like peptide isoform 1 precursor		G	,GLN/ARG	1,4405		0,1,2202	122.0	95.0	104.0		,92	-1.5	0.1	19	dbSNP_134	104	0,8600		0,0,4300	no	intron,missense	GALP	NM_001145546.1,NM_033106.3	,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,possibly-damaging	,31/117	56691959	1,13005	2203	4300	6503	SO:0001583	missense	85569				neuropeptide signaling pathway	extracellular region	hormone activity	g.chr19:56691959G>A	AF188493	CCDS12940.1, CCDS46202.1	19q13.42	2013-02-26	2007-08-24			ENSG00000197487		"""Endogenous ligands"""	24840	protein-coding gene	gene with protein product		611178				10601261	Standard	NM_033106		Approved		uc002qmo.1	Q9UBC7		ENST00000357330.2:c.92G>A	19.37:g.56691959G>A	ENSP00000349884:p.Arg31Gln					GALP_uc010eti.2_Intron	p.R31Q	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN		GBM - Glioblastoma multiforme(193;0.0507)	3	174	+		Colorectal(82;0.000147)|Ovarian(87;0.243)	31					A1KXL3	Missense_Mutation	SNP	ENST00000357330.2	37	c.92G>A	CCDS12940.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139614	0.37728	2.27E-4	0.0	ENSG00000197487	ENST00000357330	T	0.54479	0.57	2.08	-1.48	0.08745	.	.	.	.	.	T	0.29976	0.0750	L	0.29908	0.895	0.09310	N	0.999997	P	0.37731	0.607	B	0.23419	0.046	T	0.12941	-1.0528	9	0.87932	D	0	-2.5434	5.1126	0.14817	0.5003:0.0:0.4997:0.0	.	31	Q9UBC7	GALP_HUMAN	Q	31	ENSP00000349884:R31Q	ENSP00000349884:R31Q	R	+	2	0	GALP	61383771	0.990000	0.36364	0.096000	0.21009	0.344000	0.29017	0.129000	0.15830	-0.263000	0.09378	-0.225000	0.12378	CGA		0.607	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457832.1	NM_033106		19	44	0	0	0	0	19	44				
ZNF582	147948	broad.mit.edu	37	19	56896527	56896528	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56896527_56896528CC>TT	ENST00000301310.4	-	5	416_417	c.258_259GG>AA	c.(256-261)aaGGaa>aaAAaa	p.E87K	ZNF582_ENST00000586929.1_Missense_Mutation_p.E87K|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	87					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)		GGAAATAATTCCTTGGTATCAT	0.356																																					Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(256-261)AAGGAA>AAAAAA		zinc finger protein 582																																				SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56896527_56896528CC>TT	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.258_259delinsTT	19.37:g.56896527_56896528delinsTT	ENSP00000301310:p.Glu87Lys					ZNF582_uc002qmy.2_Missense_Mutation_p.E118K	p.E87K	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	417_418	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	87					B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	DNP	ENST00000301310.4	37	c.258_259GG>AA	CCDS33121.1																																																																																				0.356	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		18	64	0	0	0	0	18	64				
ZNF583	147949	broad.mit.edu	37	19	56934474	56934475	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56934474_56934475CC>TT	ENST00000333201.9	+	5	657_658	c.447_448CC>TT	c.(445-450)atCCtt>atTTtt	p.L150F	ZNF583_ENST00000291598.7_Missense_Mutation_p.L150F	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATAAAGAAATCCTTCCAGAAGT	0.366																																						uc010ygl.1		NA																	0				ovary(1)	1						c.(445-450)ATCCTT>ATTTTT		zinc finger protein 583																																				SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56934474_56934475CC>TT	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	Exception_encountered	19.37:g.56934474_56934475delinsTT	ENSP00000388502:p.Leu150Phe					ZNF583_uc002qnc.2_Missense_Mutation_p.L150F|ZNF583_uc010ygm.1_Missense_Mutation_p.L150F	p.L150F	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	612_613	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	150					O14850|Q2NKK3	Missense_Mutation	DNP	ENST00000333201.9	37	c.447_448CC>TT	CCDS12943.1																																																																																				0.366	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		16	114	0	0	0	0	16	114				
ZNF667	63934	broad.mit.edu	37	19	56953821	56953821	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56953821G>A	ENST00000504904.3	-	7	1262	c.543C>T	c.(541-543)ttC>ttT	p.F181F	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.F181F|ZNF667_ENST00000342634.3_Silent_p.F309F			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGATCTGTCTGAAAGCTTTTC	0.383																																						uc002qnd.2		NA																	0				pancreas(1)	1						c.(541-543)TTC>TTT		zinc finger protein 667							114.0	117.0	116.0					19																	56953821		2202	4300	6502	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953821G>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.543C>T	19.37:g.56953821G>A						ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Silent_p.F181F|ZNF667_uc010etm.2_Silent_p.F124F	p.F181F	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	705	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	181			C2H2-type 2.		B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.543C>T	CCDS12944.1																																																																																				0.383	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		25	121	0	0	0	0	25	121				
ZNF835	90485	broad.mit.edu	37	19	57176536	57176536	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57176536C>T	ENST00000537055.2	-	2	262	c.31G>A	c.(31-33)Ggc>Agc	p.G11S		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AACTCTGCGCCCTGGAGGGCG	0.547																																						uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(97-99)GGC>AGC		zinc finger protein 835							65.0	67.0	66.0					19																	57176536		1977	4150	6127	SO:0001583	missense	90485							g.chr19:57176536C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.31G>A	19.37:g.57176536C>T	ENSP00000444747:p.Gly11Ser					ZNF835_uc010ygn.1_Missense_Mutation_p.G11S	p.G33S	NM_001005850	NP_001005850					2	97	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.97G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093927	0.36952	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.05996	3.36	2.82	-3.13	0.05266	.	.	.	.	.	T	0.03220	0.0094	N	0.24115	0.695	0.09310	N	1	B	0.27229	0.172	B	0.21917	0.037	T	0.47761	-0.9092	9	0.08837	T	0.75	.	6.4611	0.21956	0.0:0.309:0.5632:0.1278	.	33	Q9Y2P0	ZN835_HUMAN	S	33;11	ENSP00000444747:G11S	ENSP00000341756:G33S	G	-	1	0	ZNF835	61868348	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.666000	0.05280	-0.696000	0.05098	0.561000	0.74099	GGC		0.547	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		27	36	0	0	0	0	27	36				
PEG3	5178	broad.mit.edu	37	19	57325361	57325361	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57325361G>T	ENST00000326441.9	-	10	4812	c.4449C>A	c.(4447-4449)gaC>gaA	p.D1483E	PEG3_ENST00000423103.2_Missense_Mutation_p.D1483E|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D1359E|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D1357E|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1483	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCCCACACCGTCAGGCTCGT	0.493																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4447-4449)GAC>GAA		paternally expressed 3 isoform 1							148.0	135.0	139.0					19																	57325361		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325361G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4449C>A	19.37:g.57325361G>T	ENSP00000326581:p.Asp1483Glu					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D1454E|PEG3_uc002qnv.2_Missense_Mutation_p.D1483E|PEG3_uc002qnw.2_Missense_Mutation_p.D1359E|PEG3_uc002qnx.2_Missense_Mutation_p.D1357E|PEG3_uc010etr.2_Missense_Mutation_p.D1483E	p.D1483E	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4800	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1483			Glu-rich.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4449C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	9.735	1.163437	0.21538	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02525	4.26;4.26	4.18	-8.35	0.00984	.	0.297508	0.24254	N	0.040152	T	0.01940	0.0061	L	0.29908	0.895	.	.	.	B;B;B	0.25667	0.034;0.131;0.131	B;B;B	0.18263	0.021;0.021;0.021	T	0.37079	-0.9721	9	0.20046	T	0.44	-21.7809	13.8463	0.63470	0.7403:0.1629:0.0968:0.0	.	1359;1483;1418	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	E	1483	ENSP00000326581:D1483E;ENSP00000403051:D1483E	ENSP00000326581:D1483E	D	-	3	2	ZIM2	62017173	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-4.131000	0.00289	-3.987000	0.00084	-1.223000	0.01593	GAC		0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			63	154	1	0	2.34e-25	2.44e-25	63	154				
PEG3	5178	broad.mit.edu	37	19	57325830	57325830	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57325830C>T	ENST00000326441.9	-	10	4343	c.3980G>A	c.(3979-3981)gGa>gAa	p.G1327E	PEG3_ENST00000423103.2_Missense_Mutation_p.G1327E|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1203E|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G1201E|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1327					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGTATAGCTCCTTTGAGGGG	0.428																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3979-3981)GGA>GAA		paternally expressed 3 isoform 1							92.0	90.0	91.0					19																	57325830		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325830C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3980G>A	19.37:g.57325830C>T	ENSP00000326581:p.Gly1327Glu					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1298E|PEG3_uc002qnv.2_Missense_Mutation_p.G1327E|PEG3_uc002qnw.2_Missense_Mutation_p.G1203E|PEG3_uc002qnx.2_Missense_Mutation_p.G1201E|PEG3_uc010etr.2_Missense_Mutation_p.G1327E	p.G1327E	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4331	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1327					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3980G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501459	0.26861	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02631	4.22;4.22	4.48	0.542	0.17174	.	1.087510	0.07110	N	0.842049	T	0.03871	0.0109	M	0.82323	2.585	.	.	.	B;P;P	0.38922	0.267;0.651;0.483	B;B;B	0.30495	0.116;0.084;0.057	T	0.48139	-0.9061	9	0.02654	T	1	-1.597	7.186	0.25799	0.0:0.6961:0.1744:0.1295	.	1203;1327;1262	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	E	1327	ENSP00000326581:G1327E;ENSP00000403051:G1327E	ENSP00000326581:G1327E	G	-	2	0	ZIM2	62017642	0.000000	0.05858	0.000000	0.03702	0.996000	0.88848	0.826000	0.27407	0.177000	0.19895	0.655000	0.94253	GGA		0.428	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			18	69	0	0	0	0	18	69				
PEG3	5178	broad.mit.edu	37	19	57326902	57326902	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57326902C>T	ENST00000326441.9	-	10	3271	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K	PEG3_ENST00000423103.2_Missense_Mutation_p.E970K|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E846K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E844K|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	970					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTGACATTCATAGAGCATC	0.458																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2908-2910)GAA>AAA		paternally expressed 3 isoform 1							117.0	110.0	112.0					19																	57326902		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326902C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2908G>A	19.37:g.57326902C>T	ENSP00000326581:p.Glu970Lys					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E941K|PEG3_uc002qnv.2_Missense_Mutation_p.E970K|PEG3_uc002qnw.2_Missense_Mutation_p.E846K|PEG3_uc002qnx.2_Missense_Mutation_p.E844K|PEG3_uc010etr.2_Missense_Mutation_p.E970K	p.E970K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3259	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	970			C2H2-type 5.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2908G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984513	0.35036	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.48522	0.81;0.81	4.55	2.42	0.29668	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.490245	0.17436	N	0.174289	T	0.18425	0.0442	N	0.05012	-0.13	.	.	.	B;P;P	0.36086	0.057;0.476;0.536	B;B;B	0.31686	0.032;0.1;0.134	T	0.24548	-1.0157	9	0.08381	T	0.77	-20.642	6.4057	0.21662	0.0:0.6983:0.0:0.3017	.	846;970;905	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	970	ENSP00000326581:E970K;ENSP00000403051:E970K	ENSP00000326581:E970K	E	-	1	0	ZIM2	62018714	0.000000	0.05858	0.800000	0.32199	0.898000	0.52572	-0.231000	0.09069	0.659000	0.30945	0.655000	0.94253	GAA		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			54	150	0	0	0	0	54	150				
PEG3	5178	broad.mit.edu	37	19	57327572	57327572	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57327572G>A	ENST00000326441.9	-	10	2601	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D	PEG3_ENST00000423103.2_Silent_p.D746D|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.D622D|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.D620D|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	746					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D746E(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACGCCTTTTCGTCCTCATCAC	0.408																																						uc002qnu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2236-2238)GAC>GAT		paternally expressed 3 isoform 1							147.0	142.0	144.0					19																	57327572		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327572G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2238C>T	19.37:g.57327572G>A						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.D717D|PEG3_uc002qnv.2_Silent_p.D746D|PEG3_uc002qnw.2_Silent_p.D622D|PEG3_uc002qnx.2_Silent_p.D620D|PEG3_uc010etr.2_Silent_p.D746D	p.D746D	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2589	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	746					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.2238C>T	CCDS12948.1																																																																																				0.408	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			74	162	0	0	0	0	74	162				
PEG3	5178	broad.mit.edu	37	19	57327611	57327611	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57327611C>G	ENST00000326441.9	-	10	2562	c.2199G>C	c.(2197-2199)aaG>aaC	p.K733N	PEG3_ENST00000423103.2_Missense_Mutation_p.K733N|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.K609N|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K607N|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	733					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAGTATGACTCTTCTGAGATT	0.413																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2197-2199)AAG>AAC		paternally expressed 3 isoform 1							115.0	110.0	111.0					19																	57327611		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327611C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2199G>C	19.37:g.57327611C>G	ENSP00000326581:p.Lys733Asn					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K704N|PEG3_uc002qnv.2_Missense_Mutation_p.K733N|PEG3_uc002qnw.2_Missense_Mutation_p.K609N|PEG3_uc002qnx.2_Missense_Mutation_p.K607N|PEG3_uc010etr.2_Missense_Mutation_p.K733N	p.K733N	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2550	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	733					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2199G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222686	0.58668	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.16457	2.34;2.34	4.05	1.8	0.24995	.	0.000000	0.49305	D	0.000156	T	0.39064	0.1064	M	0.85945	2.785	.	.	.	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.946;0.995;0.997	T	0.51004	-0.8760	9	0.62326	D	0.03	-52.4577	6.0801	0.19936	0.0:0.6743:0.0:0.3257	.	609;733;668	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	N	733	ENSP00000326581:K733N;ENSP00000403051:K733N	ENSP00000326581:K733N	K	-	3	2	ZIM2	62019423	0.000000	0.05858	1.000000	0.80357	0.979000	0.70002	-0.587000	0.05780	0.575000	0.29434	0.585000	0.79938	AAG		0.413	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			63	93	0	0	0	0	63	93				
USP29	57663	broad.mit.edu	37	19	57641804	57641804	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57641804C>T	ENST00000254181.4	+	4	2215	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	USP29_ENST00000598197.1_Silent_p.S587S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	587	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTCAGAATCCAGTGATTCCC	0.488																																						uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(1759-1761)TCC>TCT		ubiquitin specific peptidase 29							72.0	72.0	72.0					19																	57641804		2203	4300	6503	SO:0001819	synonymous_variant	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641804C>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1761C>T	19.37:g.57641804C>T							p.S587S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2117	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	587						Silent	SNP	ENST00000254181.4	37	c.1761C>T	CCDS33124.1																																																																																				0.488	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			13	114	0	0	0	0	13	114				
ZNF548	147694	broad.mit.edu	37	19	57910606	57910606	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57910606C>T	ENST00000366197.5	+	3	1201	c.951C>T	c.(949-951)ttC>ttT	p.F317F	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Silent_p.F329F	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGGAAATTCTTTATGGACA	0.423																																						uc002qom.2		NA																	0				breast(1)	1						c.(949-951)TTC>TTT		zinc finger protein 548							75.0	79.0	78.0					19																	57910606		2197	4300	6497	SO:0001819	synonymous_variant	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910606C>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.951C>T	19.37:g.57910606C>T						ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Silent_p.F320F	p.F317F	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1201	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	317			C2H2-type 5.		Q96M05	Silent	SNP	ENST00000366197.5	37	c.951C>T	CCDS46209.1																																																																																				0.423	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		15	86	0	0	0	0	15	86				
ZNF17	7565	broad.mit.edu	37	19	57931851	57931851	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57931851G>A	ENST00000601808.1	+	3	1204	c.991G>A	c.(991-993)Gga>Aga	p.G331R	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.G333R	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ACGGCCTTATGGATGCAATGA	0.443																																					Melanoma(149;1637 1853 29914 42869 44988)	uc002qoo.1		NA																	0				central_nervous_system(1)	1						c.(991-993)GGA>AGA		zinc finger protein 17							78.0	81.0	80.0					19																	57931851		2201	4300	6501	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57931851G>A	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.991G>A	19.37:g.57931851G>A	ENSP00000471905:p.Gly331Arg					ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.G333R	p.G331R	NM_006959	NP_008890	P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	3	1222	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	331					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.991G>A	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573187	0.28092	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.58	-2.45	0.06481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06781	0.0173	N	0.00327	-1.64	0.09310	N	1	B;B	0.23249	0.082;0.078	B;B	0.20384	0.016;0.029	T	0.27971	-1.0058	8	0.52906	T	0.07	.	3.338	0.07108	0.3999:0.0:0.4149:0.1851	.	333;331	P17021-2;P17021	.;ZNF17_HUMAN	R	331	.	ENSP00000302455:G331R	G	+	1	0	ZNF17	62623663	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-5.275000	0.00135	-0.615000	0.05679	-0.145000	0.13849	GGA		0.443	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		31	74	0	0	0	0	31	74				
ZNF530	348327	broad.mit.edu	37	19	58117311	58117311	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58117311G>A	ENST00000332854.6	+	3	638	c.418G>A	c.(418-420)Gat>Aat	p.D140N	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	140					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCAGAAGCTTGATAATGGAGA	0.473																																						uc002qpk.2		NA																	0					0						c.(418-420)GAT>AAT		zinc finger protein 530							53.0	55.0	54.0					19																	58117311		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58117311G>A	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.418G>A	19.37:g.58117311G>A	ENSP00000332861:p.Asp140Asn					ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	p.D140N	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	638	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	140					O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.418G>A	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931700	0.34096	.	.	ENSG00000183647	ENST00000332854	T	0.05319	3.46	2.01	-4.03	0.04021	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42865	-0.9426	9	0.51188	T	0.08	.	6.0826	0.19950	0.1468:0.5869:0.2663:0.0	.	140	Q6P9A1	ZN530_HUMAN	N	140	ENSP00000332861:D140N	ENSP00000332861:D140N	D	+	1	0	ZNF530	62809123	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.575000	0.02131	-0.883000	0.03982	0.514000	0.50259	GAT		0.473	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		20	96	0	0	0	0	20	96				
ZNF551	90233	broad.mit.edu	37	19	58196721	58196721	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58196721T>G	ENST00000282296.5	+	2	358	c.173T>G	c.(172-174)aTg>aGg	p.M58R	ZNF551_ENST00000596085.1_Missense_Mutation_p.M42R|ZNF551_ENST00000356715.4_Missense_Mutation_p.M42R|ZNF551_ENST00000599402.1_Intron|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCGATGTGATGCTGGAGAAC	0.498																																						uc002qpw.3		NA																	0				ovary(1)	1						c.(124-126)ATG>AGG		zinc finger protein 551							267.0	234.0	245.0					19																	58196721		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58196721T>G	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.173T>G	19.37:g.58196721T>G	ENSP00000282296:p.Met58Arg					ZNF551_uc002qpv.3_Intron|ZNF776_uc002qpx.2_Intron	p.M42R	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	348	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	58			KRAB.		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.125T>G	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	T	14.58	2.579062	0.46006	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	T	0.00745	5.75	2.17	1.14	0.20703	Krueppel-associated box (4);	.	.	.	.	T	0.06508	0.0167	H	0.97340	3.985	0.26566	N	0.973644	D	0.89917	1.0	D	0.87578	0.998	T	0.09862	-1.0655	9	0.87932	D	0	.	5.3851	0.16215	0.0:0.1577:0.0:0.8423	.	58	Q7Z340	ZN551_HUMAN	R	58;42;30	ENSP00000349149:M58R	ENSP00000282296:M42R	M	+	2	0	ZNF551	62888533	1.000000	0.71417	0.943000	0.38184	0.286000	0.27126	2.125000	0.42016	0.285000	0.22329	0.379000	0.24179	ATG		0.498	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		38	257	0	0	0	0	38	257				
ZNF418	147686	broad.mit.edu	37	19	58437850	58437850	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58437850C>T	ENST00000396147.1	-	4	1990	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	ZNF418_ENST00000599852.1_Missense_Mutation_p.E482K|ZNF418_ENST00000595830.1_Missense_Mutation_p.E567K|ZNF418_ENST00000425570.3_Missense_Mutation_p.E588K|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTCTGCACTCATAAGGTCTT	0.438																																						uc002qqs.1		NA																	0					0						c.(1699-1701)GAG>AAG		zinc finger protein 418							74.0	78.0	77.0					19																	58437850		2195	4298	6493	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58437850C>T	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1699G>A	19.37:g.58437850C>T	ENSP00000379451:p.Glu567Lys					ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.E482K	p.E567K	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1991	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	567					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1699G>A	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.400978	0.42613	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.14266	2.52;2.52	2.41	0.756	0.18421	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.04959	-0.14	0.21020	N	0.999803	P	0.43885	0.82	B	0.41088	0.347	T	0.35076	-0.9803	9	0.18710	T	0.47	.	6.6002	0.22697	0.1817:0.3181:0.5001:0.0	.	567	Q8TF45	ZN418_HUMAN	K	567;588;533	ENSP00000379451:E567K;ENSP00000407039:E588K	ENSP00000379451:E567K	E	-	1	0	ZNF418	63129662	0.000000	0.05858	0.761000	0.31378	0.082000	0.17680	-5.179000	0.00144	0.063000	0.16370	0.313000	0.20887	GAG		0.438	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		24	71	0	0	0	0	24	71				
C19orf18	147685	broad.mit.edu	37	19	58472858	58472858	+	Missense_Mutation	SNP	G	G	A	rs35437132	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58472858G>A	ENST00000314391.3	-	5	534	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	145						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CCTAATAACGGTATCCTGAGG	0.458																																						uc002qqv.2		NA																	0				ovary(1)	1						c.(433-435)CCG>TCG		hypothetical protein LOC147685 precursor		G	SER/PRO	2,4404	4.2+/-10.8	0,2,2201	149.0	130.0	137.0		433	3.1	0.1	19	dbSNP_126	137	0,8600		0,0,4300	no	missense	C19orf18	NM_152474.4	74	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	145/216	58472858	2,13004	2203	4300	6503	SO:0001583	missense	147685					integral to membrane		g.chr19:58472858G>A	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.433C>T	19.37:g.58472858G>A	ENSP00000321519:p.Pro145Ser						p.P145S	NM_152474	NP_689687	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	5	537	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	145			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000314391.3	37	c.433C>T	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408375	0.42715	4.54E-4	0.0	ENSG00000177025	ENST00000314391	T	0.58060	0.36	4.14	3.07	0.35406	.	0.162822	0.29587	N	0.011722	T	0.48607	0.1509	L	0.34521	1.04	0.09310	N	1	D	0.60160	0.987	P	0.53518	0.728	T	0.35624	-0.9781	10	0.87932	D	0	-13.2432	6.7349	0.23403	0.1379:0.0:0.8621:0.0	rs35437132	145	Q8NEA5	CS018_HUMAN	S	145	ENSP00000321519:P145S	ENSP00000321519:P145S	P	-	1	0	C19orf18	63164670	0.689000	0.27690	0.092000	0.20876	0.008000	0.06430	2.048000	0.41278	1.248000	0.43934	0.462000	0.41574	CCG		0.458	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		22	109	0	0	0	0	22	109				
ZNF606	80095	broad.mit.edu	37	19	58499607	58499607	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58499607A>C	ENST00000341164.4	-	6	988	c.368T>G	c.(367-369)gTg>gGg	p.V123G	ZNF606_ENST00000552579.1_5'Flank|ZNF606_ENST00000536132.1_Missense_Mutation_p.V33G	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	123	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGCCTGCTCCACTGACCACGG	0.522																																						uc002qqw.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(367-369)GTG>GGG		zinc finger protein 606							114.0	87.0	96.0					19																	58499607		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58499607A>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.368T>G	19.37:g.58499607A>C	ENSP00000343617:p.Val123Gly					ZNF606_uc010yhp.1_Missense_Mutation_p.V33G	p.V123G	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	6	986	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	123			KRAB.		A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.368T>G	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044888	0.36085	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.27256	1.68;2.97;1.68	4.21	4.21	0.49690	Krueppel-associated box (1);	0.406958	0.18080	N	0.152325	T	0.26231	0.0640	M	0.62209	1.925	0.18873	N	0.999984	B	0.19583	0.037	B	0.20955	0.032	T	0.21042	-1.0257	10	0.87932	D	0	.	7.949	0.30003	0.7914:0.2086:0.0:0.0	.	123	Q8WXB4	ZN606_HUMAN	G	123;33;123	ENSP00000343617:V123G;ENSP00000445624:V33G;ENSP00000446972:V123G	ENSP00000343617:V123G	V	-	2	0	ZNF606	63191419	0.428000	0.25522	0.497000	0.27552	0.112000	0.19704	1.174000	0.31932	1.903000	0.55091	0.379000	0.24179	GTG		0.522	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		10	65	0	0	0	0	10	65				
ZNF135	7694	broad.mit.edu	37	19	58578350	58578350	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58578350G>A	ENST00000313434.5	+	5	599	c.498G>A	c.(496-498)ggG>ggA	p.G166G	ZNF135_ENST00000511556.1_Silent_p.G178G|ZNF135_ENST00000506786.1_Silent_p.G124G|ZNF135_ENST00000439855.2_Silent_p.G166G|ZNF135_ENST00000359978.6_Silent_p.G178G|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000401053.4_Silent_p.G190G	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	166				G -> R (in Ref. 5; AAC50254). {ECO:0000305}.	cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATGGGTTTGGGGAAAACATAA	0.542																																						uc010yhq.1		NA																	0				ovary(1)	1						c.(532-534)GGG>GGA		zinc finger protein 135 isoform 2							64.0	59.0	61.0					19																	58578350		2203	4300	6503	SO:0001819	synonymous_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578350G>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.498G>A	19.37:g.58578350G>A						ZNF135_uc002qre.2_Silent_p.G166G|ZNF135_uc002qrd.1_Silent_p.G124G|ZNF135_uc002qrf.2_Silent_p.G124G|ZNF135_uc002qrg.2_Silent_p.G136G|ZNF135_uc010yhr.1_5'UTR	p.G178G	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	630	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	178					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37	c.534G>A		.	.	.	.	.	.	.	.	.	.	G	3.843	-0.033332	0.07543	.	.	ENSG00000176293	ENST00000391699	.	.	.	3.63	-0.082	0.13700	.	.	.	.	.	T	0.22627	0.0546	.	.	.	0.19300	N	0.999972	.	.	.	.	.	.	T	0.23368	-1.0190	5	0.30854	T	0.27	.	2.5206	0.04679	0.278:0.0:0.4915:0.2305	.	.	.	.	E	184	.	ENSP00000375580:G184E	G	+	2	0	ZNF135	63270162	0.029000	0.19370	0.126000	0.21872	0.030000	0.12068	0.740000	0.26188	0.319000	0.23209	-0.252000	0.11476	GGG		0.542	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		19	27	0	0	0	0	19	27				
ZNF135	7694	broad.mit.edu	37	19	58578606	58578606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58578606C>T	ENST00000313434.5	+	5	855	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	ZNF135_ENST00000511556.1_Missense_Mutation_p.R264W|ZNF135_ENST00000506786.1_Missense_Mutation_p.R210W|ZNF135_ENST00000439855.2_Missense_Mutation_p.R252W|ZNF135_ENST00000359978.6_Missense_Mutation_p.R264W|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000401053.4_Missense_Mutation_p.R276W	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	252					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAAAGGCTTCCGGAACAGCTC	0.502																																						uc010yhq.1		NA																	0				ovary(1)	1						c.(790-792)CGG>TGG		zinc finger protein 135 isoform 2							123.0	118.0	120.0					19																	58578606		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578606C>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.754C>T	19.37:g.58578606C>T	ENSP00000321406:p.Arg252Trp					ZNF135_uc002qre.2_Missense_Mutation_p.R252W|ZNF135_uc002qrd.1_Missense_Mutation_p.R210W|ZNF135_uc002qrf.2_Missense_Mutation_p.R210W|ZNF135_uc002qrg.2_Missense_Mutation_p.R222W|ZNF135_uc010yhr.1_Missense_Mutation_p.R73W	p.R264W	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	886	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	264					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.790C>T		.	.	.	.	.	.	.	.	.	.	C	8.972	0.973097	0.18736	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18	3.44	-1.8	0.07907	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	M	0.67397	2.05	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.77557	0.953;0.99;0.875	T	0.12477	-1.0546	9	0.56958	D	0.05	.	3.8276	0.08861	0.1415:0.359:0.3982:0.1014	.	264;252;264	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	W	264;276;264;252;252;264;210	ENSP00000441410:R276W;ENSP00000369437:R264W;ENSP00000444828:R252W;ENSP00000321406:R252W;ENSP00000422074:R264W;ENSP00000427691:R210W	ENSP00000321406:R252W	R	+	1	2	ZNF135	63270418	0.000000	0.05858	0.025000	0.17156	0.003000	0.03518	0.158000	0.16422	0.011000	0.14865	0.563000	0.77884	CGG		0.502	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		21	145	0	0	0	0	21	145				
SLC27A5	10998	broad.mit.edu	37	19	59010014	59010014	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:59010014C>T	ENST00000263093.2	-	10	2050	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R	SLC27A5_ENST00000594786.1_Silent_p.R52R|SLC27A5_ENST00000601355.1_Silent_p.R563R|SLC27A5_ENST00000599700.1_5'UTR	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	647					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CACGCACCAACCGGGTCTTCA	0.592																																						uc002qtc.2		NA																	0					0						c.(1939-1941)CGG>CGA		solute carrier family 27 (fatty acid							148.0	125.0	133.0					19																	59010014		2203	4300	6503	SO:0001819	synonymous_variant	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59010014C>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1941G>A	19.37:g.59010014C>T						SLC27A5_uc002qtb.2_RNA	p.R647R	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	10	2051	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	647			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Silent	SNP	ENST00000263093.2	37	c.1941G>A	CCDS12983.1																																																																																				0.592	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		11	26	0	0	0	0	11	26				
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010864	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:59010864G>A	ENST00000263093.2	-	7	1771	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Silent_p.T470T|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGA	0.657																																						uc002qtc.2		NA																	1	Substitution - Missense(1)		skin(1)		0						c.(1660-1662)ACC>ACT		solute carrier family 27 (fatty acid							38.0	38.0	38.0					19																	59010864		2203	4299	6502	SO:0001819	synonymous_variant	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59010864G>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1662C>T	19.37:g.59010864G>A						SLC27A5_uc002qtb.2_5'Flank	p.T554T	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	7	1772	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	554			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Silent	SNP	ENST00000263093.2	37	c.1662C>T	CCDS12983.1																																																																																				0.657	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		6	71	0	0	0	0	6	71				
TPO	7173	broad.mit.edu	37	2	1457507	1457507	+	Missense_Mutation	SNP	G	G	A	rs571832933		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:1457507G>A	ENST00000345913.4	+	6	615	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.R175Q|TPO_ENST00000346956.3_Missense_Mutation_p.R175Q|TPO_ENST00000329066.4_Missense_Mutation_p.R175Q|TPO_ENST00000349624.3_Missense_Mutation_p.R175Q|TPO_ENST00000382201.3_Missense_Mutation_p.R175Q|TPO_ENST00000337415.3_Missense_Mutation_p.R175Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	175					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCCTGGCACGATGGCTCCCT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		16154	0.0		0.001	False		,,,				2504	0.0					uc002qww.2		NA																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	GRCh37	CM043875	TPO	M		c.(523-525)CGA>CAA		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						67.0	74.0	72.0					2																	1457507		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1457507G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.524G>A	2.37:g.1457507G>A	ENSP00000318820:p.Arg175Gln					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.R175Q|TPO_uc002qwr.2_Missense_Mutation_p.R175Q|TPO_uc002qwx.2_Missense_Mutation_p.R175Q|TPO_uc010yio.1_Missense_Mutation_p.R175Q|TPO_uc010yip.1_Missense_Mutation_p.R175Q	p.R175Q	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	6	615	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	175			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.524G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492727	0.84962	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	D;D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.27	5.27	0.74061	.	0.100474	0.64402	D	0.000003	D	0.95778	0.8626	H	0.95504	3.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.999;0.997;0.996	D	0.97004	0.9731	10	0.87932	D	0	-19.1988	18.8829	0.92364	0.0:0.0:1.0:0.0	.	175;175;175;175	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	Q	175;175;175;175;175;175;175;104	ENSP00000337263:R175Q;ENSP00000318820:R175Q;ENSP00000263886:R175Q;ENSP00000332044:R175Q;ENSP00000329869:R175Q;ENSP00000371636:R175Q;ENSP00000371633:R175Q;ENSP00000405788:R104Q	ENSP00000329869:R175Q	R	+	2	0	TPO	1436514	0.997000	0.39634	0.272000	0.24630	0.200000	0.23975	8.814000	0.91968	2.438000	0.82558	0.557000	0.71058	CGA		0.602	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		38	104	0	0	0	0	38	104				
TPO	7173	broad.mit.edu	37	2	1460007	1460007	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:1460007G>A	ENST00000345913.4	+	7	863	c.772G>A	c.(772-774)Gac>Aac	p.D258N	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.D258N|TPO_ENST00000346956.3_Missense_Mutation_p.D258N|TPO_ENST00000329066.4_Missense_Mutation_p.D258N|TPO_ENST00000349624.3_Missense_Mutation_p.D258N|TPO_ENST00000382201.3_Missense_Mutation_p.D258N|TPO_ENST00000337415.3_Missense_Mutation_p.D258N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	258					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGGGGCTGACTGCCAGAT	0.463																																						uc002qww.2		NA																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(772-774)GAC>AAC		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						80.0	72.0	75.0					2																	1460007		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1460007G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.772G>A	2.37:g.1460007G>A	ENSP00000318820:p.Asp258Asn					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.D258N|TPO_uc002qwr.2_Missense_Mutation_p.D258N|TPO_uc002qwx.2_Missense_Mutation_p.D258N|TPO_uc010yio.1_Missense_Mutation_p.D258N|TPO_uc010yip.1_Missense_Mutation_p.D258N	p.D258N	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	863	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	258			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.772G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078732	0.36662	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	4.81	3.93	0.45458	.	0.093051	0.64402	N	0.000001	T	0.74329	0.3702	L	0.49455	1.56	0.80722	D	1	P;D;P;P	0.56521	0.932;0.976;0.832;0.945	B;P;B;P	0.56398	0.445;0.797;0.332;0.674	T	0.72100	-0.4392	10	0.31617	T	0.26	-20.4229	13.336	0.60518	0.0776:0.0:0.9224:0.0	.	258;258;258;258	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	N	258;258;258;258;258;258;258;187	ENSP00000337263:D258N;ENSP00000318820:D258N;ENSP00000263886:D258N;ENSP00000332044:D258N;ENSP00000329869:D258N;ENSP00000371636:D258N;ENSP00000371633:D258N;ENSP00000405788:D187N	ENSP00000329869:D258N	D	+	1	0	TPO	1439014	1.000000	0.71417	0.267000	0.24556	0.103000	0.19146	5.784000	0.68990	1.143000	0.42306	0.563000	0.77884	GAC		0.463	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		4	44	0	0	0	0	4	44				
TSSC1	7260	broad.mit.edu	37	2	3193185	3193185	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:3193185G>A	ENST00000382125.4	-	9	1276	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	TSSC1_ENST00000398659.4_Silent_p.L389L|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	362										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GAGGCAAACAGCCACGGGTCA	0.622																																					Colon(140;1261 1762 4183 34270 49743)	uc002qxj.2		NA																	0					0						c.(1084-1086)CTG>TTG		tumor suppressing subtransferable candidate 1							48.0	39.0	42.0					2																	3193185		2191	4288	6479	SO:0001819	synonymous_variant	7260						protein binding	g.chr2:3193185G>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.1084C>T	2.37:g.3193185G>A						TSSC1_uc002qxi.2_RNA	p.L362L	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	9	1277	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	362			WD 5.		D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	ENST00000382125.4	37	c.1084C>T	CCDS1651.1																																																																																				0.622	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		4	16	0	0	0	0	4	16				
TRAPPC12	51112	broad.mit.edu	37	2	3392406	3392406	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:3392406C>T	ENST00000324266.5	+	2	1207	c.1012C>T	c.(1012-1014)Ctc>Ttc	p.L338F	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L338F	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	338					vesicle-mediated transport (GO:0016192)												CAAGGAGAACCTCACCATGCC	0.682																																						uc002qxm.1		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1012-1014)CTC>TTC		tetratricopeptide repeat domain 15							20.0	17.0	18.0					2																	3392406		2198	4297	6495	SO:0001583	missense	51112						binding	g.chr2:3392406C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1012C>T	2.37:g.3392406C>T	ENSP00000324318:p.Leu338Phe					TTC15_uc002qxn.1_Missense_Mutation_p.L338F|TTC15_uc010ewm.1_Missense_Mutation_p.L338F|TTC15_uc002qxl.1_Missense_Mutation_p.L338F	p.L338F	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	2	1218	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	338					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.1012C>T	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932859	0.73442	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.57595	0.39;0.39	5.07	4.18	0.49190	.	0.060690	0.64402	D	0.000002	T	0.74015	0.3661	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.972;0.972;0.998	T	0.79388	-0.1824	10	0.72032	D	0.01	.	14.999	0.71455	0.0:0.8568:0.1432:0.0	.	321;338;338	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	F	338;321;338	ENSP00000371544:L338F;ENSP00000324318:L338F	ENSP00000303612:L321F	L	+	1	0	TTC15	3371413	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	3.286000	0.51724	1.465000	0.48006	0.561000	0.74099	CTC		0.682	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		3	12	0	0	0	0	3	12				
COLEC11	78989	broad.mit.edu	37	2	3691452	3691452	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:3691452G>A	ENST00000349077.4	+	7	663	c.560G>A	c.(559-561)gGc>gAc	p.G187D	COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.G201D|COLEC11_ENST00000403096.3_Missense_Mutation_p.G161D|COLEC11_ENST00000402794.1_Missense_Mutation_p.G137D|COLEC11_ENST00000382062.2_Missense_Mutation_p.G163D|COLEC11_ENST00000404205.1_Missense_Mutation_p.G113D|COLEC11_ENST00000236693.7_Missense_Mutation_p.G184D|COLEC11_ENST00000402922.1_Missense_Mutation_p.G137D	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	187	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GCTGCCAATGGCCTGATGGCC	0.662																																						uc002qya.2		NA																	0					0						c.(559-561)GGC>GAC		collectin sub-family member 11 isoform a							36.0	39.0	38.0					2																	3691452		2203	4300	6503	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3691452G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.560G>A	2.37:g.3691452G>A	ENSP00000339168:p.Gly187Asp					COLEC11_uc002qxz.2_Missense_Mutation_p.G184D|COLEC11_uc002qyb.2_Missense_Mutation_p.G163D|COLEC11_uc002qyc.2_Missense_Mutation_p.G163D|COLEC11_uc010ewo.2_Missense_Mutation_p.G139D|COLEC11_uc010ewp.2_Missense_Mutation_p.G161D|COLEC11_uc010ewq.2_Missense_Mutation_p.G137D|COLEC11_uc010ewr.2_Missense_Mutation_p.G137D|COLEC11_uc010ews.2_Missense_Mutation_p.G113D	p.G187D	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	7	708	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		187			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.560G>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	1.387	-0.581961	0.03827	.	.	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.2	4.31	0.51392	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.590642	0.19384	N	0.115596	T	0.07458	0.0188	N	0.03304	-0.355	0.28772	N	0.900339	B;B;B;B;B;B;B;B;B	0.31949	0.196;0.128;0.348;0.05;0.128;0.063;0.026;0.076;0.317	B;B;B;B;B;B;B;B;B	0.33454	0.098;0.1;0.1;0.073;0.1;0.073;0.046;0.16;0.164	T	0.24333	-1.0163	10	0.24483	T	0.36	-13.1752	8.5375	0.33373	0.0894:0.1579:0.7527:0.0	.	113;137;137;161;139;163;163;187;184	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	D	163;184;187;201;161;137;113;137	ENSP00000371494:G163D;ENSP00000236693:G184D;ENSP00000339168:G187D;ENSP00000411770:G201D;ENSP00000385130:G161D;ENSP00000384882:G137D;ENSP00000385827:G113D;ENSP00000385653:G137D	ENSP00000236693:G184D	G	+	2	0	COLEC11	3669327	0.939000	0.31865	0.991000	0.47740	0.059000	0.15707	1.439000	0.35013	1.161000	0.42604	0.467000	0.42956	GGC		0.662	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		4	32	0	0	0	0	4	32				
SOX11	6664	broad.mit.edu	37	2	5833795	5833795	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:5833795C>T	ENST00000322002.3	+	1	997	c.942C>T	c.(940-942)agC>agT	p.S314S	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC010729.1_ENST00000455579.2_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	314					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTACTACAGCTTCAAGAACA	0.736																																						uc002qyj.2		NA																	0				central_nervous_system(3)	3						c.(940-942)AGC>AGT		SRY-box 11							6.0	8.0	7.0					2																	5833795		1788	3707	5495	SO:0001819	synonymous_variant	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833795C>T		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.942C>T	2.37:g.5833795C>T							p.S314S	NM_003108	NP_003099	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	997	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		314					Q4ZFV8	Silent	SNP	ENST00000322002.3	37	c.942C>T	CCDS1654.1																																																																																				0.736	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		8	13	0	0	0	0	8	13				
ROCK2	9475	broad.mit.edu	37	2	11354483	11354483	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:11354483C>T	ENST00000315872.6	-	17	2491	c.2043G>A	c.(2041-2043)aaG>aaA	p.K681K	ROCK2_ENST00000401753.1_Splice_Site_p.K438K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	681	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CATGTTTTACCTTTTCCAAAT	0.328																																						uc002rbd.1		NA																	0				stomach(2)|skin(2)	4						c.(2041-2043)AAG>AAA		Rho-associated, coiled-coil containing protein							92.0	85.0	87.0					2																	11354483		1806	4067	5873	SO:0001630	splice_region_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11354483C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2043+1G>A	2.37:g.11354483C>T							p.K681K	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	17	2492	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		681			Potential.|Interaction with PPP1R12A.		Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	37	c.2043G>A	CCDS42654.1																																																																																				0.328	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		Silent	20	47	0	0	0	0	20	47				
GREB1	9687	broad.mit.edu	37	2	11750976	11750976	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:11750976C>T	ENST00000381486.2	+	18	3129	c.2829C>T	c.(2827-2829)ccC>ccT	p.P943P	GREB1_ENST00000234142.5_Silent_p.P943P|GREB1_ENST00000396123.1_5'Flank	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	943						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGCAGTGCCCCTGCGGCCACG	0.692																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(2827-2829)CCC>CCT		growth regulation by estrogen in breast cancer 1							32.0	36.0	35.0					2																	11750976		2060	4197	6257	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11750976C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2829C>T	2.37:g.11750976C>T						GREB1_uc002rbo.1_Silent_p.P577P|GREB1_uc002rbp.1_5'Flank	p.P943P	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	18	3129	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		943					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.2829C>T	CCDS42655.1																																																																																				0.692	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		11	19	0	0	0	0	11	19				
NTSR2	23620	broad.mit.edu	37	2	11802337	11802337	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:11802337G>A	ENST00000306928.5	-	2	688	c.654C>T	c.(652-654)ccC>ccT	p.P218P		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	218					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TTAGTGCCAAGGGGAGCACGA	0.647																																						uc002rbq.3		NA																	0					0						c.(652-654)CCC>CCT		neurotensin receptor 2	Levocabastine(DB01106)						95.0	104.0	101.0					2																	11802337		2203	4300	6503	SO:0001819	synonymous_variant	23620				sensory perception	integral to plasma membrane		g.chr2:11802337G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.654C>T	2.37:g.11802337G>A							p.P218P	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	2	728	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		218			Helical; Name=5; (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	c.654C>T	CCDS1681.1																																																																																				0.647	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			65	140	0	0	0	0	65	140				
NBAS	51594	broad.mit.edu	37	2	15307441	15307441	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:15307441C>T	ENST00000281513.5	-	52	6872	c.6847G>A	c.(6847-6849)Gat>Aat	p.D2283N	NBAS_ENST00000441750.1_Missense_Mutation_p.D2163N	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2283					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAATTGGAATCATTCACCTTC	0.517																																						uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(6847-6849)GAT>AAT		neuroblastoma-amplified protein							59.0	53.0	55.0					2																	15307441		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15307441C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6847G>A	2.37:g.15307441C>T	ENSP00000281513:p.Asp2283Asn					NBAS_uc002rcb.1_Missense_Mutation_p.D123N|NBAS_uc010exl.1_Missense_Mutation_p.D1355N|NBAS_uc002rcd.1_RNA	p.D2283N	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			52	6873	-			2283					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.6847G>A	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.15|16.15	3.041713|3.041713	0.55003|0.55003	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283|ENST00000442506	T;T|.	0.32753|.	1.44;1.44|.	5.46|5.46	4.58|4.58	0.56647|0.56647	.|.	0.177577|.	0.56097|.	N|.	0.000036|.	T|T	0.69593|0.69593	0.3128|0.3128	M|M	0.63428|0.63428	1.95|1.95	0.42030|0.42030	D|D	0.991022|0.991022	D;P|.	0.62365|.	0.991;0.843|.	P;B|.	0.61800|.	0.894;0.394|.	T|T	0.69281|0.69281	-0.5186|-0.5186	10|5	0.87932|.	D|.	0|.	.|.	13.4101|13.4101	0.60938|0.60938	0.0:0.9244:0.0:0.0756|0.0:0.9244:0.0:0.0756	.|.	2163;2283|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	N|I	2163;2283;96|1330	ENSP00000413201:D2163N;ENSP00000281513:D2283N|.	ENSP00000281513:D2283N|.	D|M	-|-	1|3	0|0	NBAS|NBAS	15224892|15224892	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.079000|0.079000	0.17450|0.17450	3.588000|3.588000	0.53964|0.53964	1.296000|1.296000	0.44742|0.44742	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.517	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		8	36	0	0	0	0	8	36				
WDR35	57539	broad.mit.edu	37	2	20131060	20131060	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:20131060C>A	ENST00000345530.3	-	25	3082	c.2967G>T	c.(2965-2967)caG>caT	p.Q989H	WDR35_ENST00000416055.2_Missense_Mutation_p.Q462H|WDR35_ENST00000281405.4_Missense_Mutation_p.Q978H	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	989					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTCCTCGCTGGGCATTCT	0.338																																						uc002rdi.2		NA																	0				ovary(1)	1						c.(2965-2967)CAG>CAT		WD repeat domain 35 isoform 1							153.0	147.0	149.0					2																	20131060		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20131060C>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2967G>T	2.37:g.20131060C>A	ENSP00000314444:p.Gln989His					WDR35_uc002rdj.2_Missense_Mutation_p.Q978H|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.Q462H	p.Q989H	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			25	3075	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		989					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2967G>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957925	0.34565	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055	T;T;T	0.73575	-0.14;-0.13;-0.76	4.82	-3.78	0.04333	.	0.109676	0.64402	D	0.000006	T	0.79673	0.4486	L	0.59436	1.845	0.29069	N	0.883419	D;P;D	0.76494	0.989;0.939;0.999	P;P;D	0.85130	0.861;0.641;0.997	T	0.76138	-0.3069	10	0.46703	T	0.11	-5.1946	12.8372	0.57780	0.0:0.3881:0.0:0.6119	.	978;989;462	Q9P2L0-2;Q9P2L0;B3KR94	.;WDR35_HUMAN;.	H	989;978;462	ENSP00000314444:Q989H;ENSP00000281405:Q978H;ENSP00000399159:Q462H	ENSP00000281405:Q978H	Q	-	3	2	WDR35	19994541	0.991000	0.36638	0.425000	0.26659	0.123000	0.20343	0.335000	0.19806	-1.100000	0.03030	-0.218000	0.12543	CAG		0.338	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		15	102	1	0	9.17e-09	9.4e-09	15	102				
LAPTM4A	9741	broad.mit.edu	37	2	20234791	20234791	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:20234791G>A	ENST00000175091.4	-	5	972	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	155					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGTCCAAGGCCAGGAGGT	0.428																																					Ovarian(90;1240 1386 7711 14384 46863)	uc002rdm.2		NA																	0				ovary(1)	1						c.(463-465)GCC>GCT		lysosomal protein transmembrane 4 alpha							114.0	99.0	104.0					2																	20234791		2203	4300	6503	SO:0001819	synonymous_variant	9741				transport	endomembrane system|Golgi apparatus|integral to membrane		g.chr2:20234791G>A	D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"""lysosomal-associated protein transmembrane 4 alpha"""	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.465C>T	2.37:g.20234791G>A						LAPTM4A_uc002rdn.2_Silent_p.A113A	p.A155A	NM_014713	NP_055528	Q15012	LAP4A_HUMAN			5	973	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		155					Q6UW22	Silent	SNP	ENST00000175091.4	37	c.465C>T	CCDS1696.1																																																																																				0.428	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1	NM_014713		3	9	0	0	0	0	3	9				
RHOB	388	broad.mit.edu	37	2	20647719	20647719	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:20647719G>A	ENST00000272233.4	+	1	885	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	165					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	CAAGACCAAGGAAGGCGTGCG	0.662																																						uc002rdv.2		NA																	0				ovary(1)|lung(1)	2						c.(493-495)GAA>AAA		ras homolog gene family, member B precursor							65.0	67.0	66.0					2																	20647719		2197	4291	6488	SO:0001583	missense	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647719G>A		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.493G>A	2.37:g.20647719G>A	ENSP00000272233:p.Glu165Lys						p.E165K	NM_004040	NP_004031	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	885	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	165					B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	c.493G>A	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286110	0.40394	.	.	ENSG00000143878	ENST00000272233	T	0.70986	-0.53	5.21	4.33	0.51752	.	0.000000	0.85682	U	0.000000	T	0.60766	0.2294	L	0.35793	1.09	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.55717	-0.8097	10	0.29301	T	0.29	-19.5328	14.1134	0.65137	0.073:0.0:0.927:0.0	.	165	P62745	RHOB_HUMAN	K	165	ENSP00000272233:E165K	ENSP00000272233:E165K	E	+	1	0	RHOB	20511200	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	9.674000	0.98633	1.356000	0.45884	-0.140000	0.14226	GAA		0.662	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1	NM_004040		20	101	0	0	0	0	20	101				
APOB	338	broad.mit.edu	37	2	21265245	21265245	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:21265245C>T	ENST00000233242.1	-	3	352	c.225G>A	c.(223-225)agG>agA	p.R75R	APOB_ENST00000399256.4_Silent_p.R75R	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	75	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGTTGATCCTGGTGGCAC	0.587																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(223-225)AGG>AGA		apolipoprotein B precursor	Atorvastatin(DB01076)						146.0	137.0	140.0					2																	21265245		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21265245C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.225G>A	2.37:g.21265245C>T							p.R75R	NM_000384	NP_000375	P04114	APOB_HUMAN			3	353	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		75			Vitellogenin.|Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.225G>A	CCDS1703.1																																																																																				0.587	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			19	92	0	0	0	0	19	92				
C2orf44	80304	broad.mit.edu	37	2	24261404	24261404	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:24261404G>A	ENST00000295148.4	-	2	1018	c.961C>T	c.(961-963)Ctt>Ttt	p.L321F	C2orf44_ENST00000406895.3_Missense_Mutation_p.L321F	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	321									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGTCACAAGGACCAAATGT	0.388			T	ALK	NSCLC																																	uc002rep.2		NA		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					0				ovary(1)|breast(1)	2						c.(961-963)CTT>TTT		hypothetical protein LOC80304 isoform 1							64.0	61.0	62.0					2																	24261404		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24261404G>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.961C>T	2.37:g.24261404G>A	ENSP00000295148:p.Leu321Phe					C2orf44_uc010eya.2_Missense_Mutation_p.L321F	p.L321F	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			2	1092	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		321					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.961C>T	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621559	0.46736	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.66638	-0.22;-0.22	5.6	4.71	0.59529	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77267	0.4105	M	0.76328	2.33	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78242	-0.2280	10	0.72032	D	0.01	-18.6414	5.6097	0.17398	0.2626:0.0:0.7374:0.0	.	321;321	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	F	321	ENSP00000295148:L321F;ENSP00000385816:L321F	ENSP00000295148:L321F	L	-	1	0	C2orf44	24114908	1.000000	0.71417	0.964000	0.40570	0.032000	0.12392	1.864000	0.39469	2.818000	0.97014	0.655000	0.94253	CTT		0.388	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		11	61	0	0	0	0	11	61				
ITSN2	50618	broad.mit.edu	37	2	24433775	24433775	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:24433775G>A	ENST00000355123.4	-	34	4574	c.4131C>T	c.(4129-4131)tcC>tcT	p.S1377S	ITSN2_ENST00000361999.3_Silent_p.S1350S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1377	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCTTTAGGGAGGAATGGT	0.597																																						uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(4129-4131)TCC>TCT		intersectin 2 isoform 1							83.0	77.0	79.0					2																	24433775		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24433775G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4131C>T	2.37:g.24433775G>A						ITSN2_uc002rff.2_Silent_p.S1350S	p.S1377S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			34	4389	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1377			DH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.4131C>T	CCDS1710.2																																																																																				0.597	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		20	56	0	0	0	0	20	56				
DNMT3A	1788	broad.mit.edu	37	2	25457168	25457169	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:25457168_25457169CC>TT	ENST00000264709.3	-	23	3055_3056	c.2718_2719GG>AA	c.(2716-2721)aaGGag>aaAAag	p.E907K	DNMT3A_ENST00000380746.4_Missense_Mutation_p.E718K|DNMT3A_ENST00000402667.1_Missense_Mutation_p.E684K|DNMT3A_ENST00000321117.5_Missense_Mutation_p.E907K|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	907	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAAATACTCCTTCAGCGGAG	0.495			"""Mis, F, N, S"""		AML																																	uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(2716-2721)AAGGAG>AAAAAG		DNA cytosine methyltransferase 3 alpha isoform																																				SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25457168_25457169CC>TT		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2718_2719delinsTT	2.37:g.25457168_25457169delinsTT	ENSP00000264709:p.Glu907Lys					DNMT3A_uc002rgd.2_Missense_Mutation_p.E907K|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.E718K	p.E907K	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			23	2975_2976	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		907					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	DNP	ENST00000264709.3	37	c.2718_2719GG>AA	CCDS33157.1																																																																																				0.495	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		13	78	0	0	0	0	13	78				
DNMT3A	1788	broad.mit.edu	37	2	25469512	25469512	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:25469512G>A	ENST00000264709.3	-	10	1593	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L	DNMT3A_ENST00000380746.4_Missense_Mutation_p.P230L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.P196L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.P419L|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	419					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCCCTTAGGGCCAGAAGG	0.617			"""Mis, F, N, S"""		AML																																	uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(1255-1257)CCT>CTT		DNA cytosine methyltransferase 3 alpha isoform							41.0	42.0	42.0					2																	25469512		2199	4291	6490	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25469512G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1256C>T	2.37:g.25469512G>A	ENSP00000264709:p.Pro419Leu					DNMT3A_uc002rgd.2_Missense_Mutation_p.P419L|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.P230L	p.P419L	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			10	1513	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		419					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1256C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604071	0.87157	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.95108	0.8415	M	0.61703	1.905	0.80722	D	1	B;P	0.52692	0.413;0.955	B;P	0.44946	0.041;0.465	D	0.93535	0.6873	10	0.19147	T	0.46	-7.8686	16.0693	0.80911	0.0:0.0:1.0:0.0	.	419;230	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	L	230;419;419;196	ENSP00000370122:P230L;ENSP00000324375:P419L;ENSP00000264709:P419L;ENSP00000384237:P196L	ENSP00000264709:P419L	P	-	2	0	DNMT3A	25323016	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.384000	0.73177	2.651000	0.90000	0.655000	0.94253	CCT		0.617	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		8	61	0	0	0	0	8	61				
ASXL2	55252	broad.mit.edu	37	2	26029098	26029098	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:26029098C>T	ENST00000435504.4	-	4	545	c.252G>A	c.(250-252)aaG>aaA	p.K84K	ASXL2_ENST00000336112.4_Splice_Site_p.K56K|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	84					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATATTTACCTTCAAAGTAT	0.393																																						uc002rgs.2		NA																	0				pancreas(1)	1						c.(250-252)AAG>AAA		additional sex combs like 2							45.0	41.0	42.0					2																	26029098		1814	4079	5893	SO:0001630	splice_region_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26029098C>T			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.252+1G>A	2.37:g.26029098C>T							p.K84K	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			3	473	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		84					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37	c.252G>A																																																																																					0.393	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	Silent	9	21	0	0	0	0	9	21				
KIF3C	3797	broad.mit.edu	37	2	26203352	26203352	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:26203352G>C	ENST00000264712.3	-	1	2014	c.1435C>G	c.(1435-1437)Cgc>Ggc	p.R479G	KIF3C_ENST00000405914.1_Missense_Mutation_p.R479G	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	479					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGGCTGCGGTCATCCTGG	0.607																																						uc002rgu.2		NA																	0				ovary(3)|skin(1)	4						c.(1435-1437)CGC>GGC		kinesin family member 3C							77.0	75.0	76.0					2																	26203352		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203352G>C		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1435C>G	2.37:g.26203352G>C	ENSP00000264712:p.Arg479Gly					KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.R479G	p.R479G	NM_002254	NP_002245	O14782	KIF3C_HUMAN			1	2092	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		479			Potential.		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.1435C>G	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	8.532	0.871234	0.17322	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.74002	-0.8;-0.8	5.62	5.62	0.85841	.	0.220985	0.47093	D	0.000258	T	0.65291	0.2677	L	0.27053	0.805	0.34112	D	0.663062	B;B	0.18863	0.008;0.031	B;B	0.18871	0.008;0.023	T	0.66854	-0.5818	10	0.34782	T	0.22	.	18.223	0.89907	0.0:0.0:1.0:0.0	.	479;479	B7ZM25;O14782	.;KIF3C_HUMAN	G	479;285;479	ENSP00000264712:R479G;ENSP00000385030:R479G	ENSP00000264712:R479G	R	-	1	0	KIF3C	26056856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.310000	0.72830	2.653000	0.90120	0.655000	0.94253	CGC		0.607	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			27	71	0	0	0	0	27	71				
DPYSL5	56896	broad.mit.edu	37	2	27147884	27147884	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27147884C>T	ENST00000288699.6	+	3	549	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.H131Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	131					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACGCCCTCCACGTGGGGAT	0.612																																						uc002rhu.3		NA																	0				ovary(2)	2						c.(391-393)CAC>TAC		dihydropyrimidinase-like 5							94.0	83.0	87.0					2																	27147884		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27147884C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.391C>T	2.37:g.27147884C>T	ENSP00000288699:p.His131Tyr					DPYSL5_uc002rhv.3_Missense_Mutation_p.H131Y	p.H131Y	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			3	549	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		131					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.391C>T	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692154	0.88735	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	T;D;D;T;T	0.90261	-1.4;-2.64;-2.64;-1.4;-1.42	5.05	5.05	0.67936	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	H	0.95816	3.725	0.52501	D	0.999952	D	0.89917	1.0	D	0.85130	0.997	D	0.98016	1.0368	10	0.87932	D	0	-20.3682	17.5417	0.87850	0.0:1.0:0.0:0.0	.	131	Q9BPU6	DPYL5_HUMAN	Y	131	ENSP00000407174:H131Y;ENSP00000288699:H131Y;ENSP00000385549:H131Y;ENSP00000399581:H131Y;ENSP00000413075:H131Y	ENSP00000288699:H131Y	H	+	1	0	DPYSL5	27001388	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.336000	0.79245	2.510000	0.84645	0.655000	0.94253	CAC		0.612	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		8	32	0	0	0	0	8	32				
EMILIN1	11117	broad.mit.edu	37	2	27307867	27307868	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27307867_27307868GG>AA	ENST00000380320.4	+	6	3065_3066	c.2566_2567GG>AA	c.(2566-2568)GGt>AAt	p.G856N	KHK_ENST00000260599.6_5'Flank|KHK_ENST00000260598.5_5'Flank	NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	856	Collagen-like.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCCTCAAGGTGAACAGGGT	0.545																																						uc002rii.3		NA																	0				pancreas(1)	1						c.(2566-2568)GGT>AAT		elastin microfibril interfacer 1 precursor																																				SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27307867_27307868GG>AA	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	Exception_encountered	2.37:g.27307867_27307868delinsAA	ENSP00000369677:p.Gly856Asn					EMILIN1_uc002rik.3_Missense_Mutation_p.G91N|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank	p.G856N	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			6	2994_2995	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		856			Collagen-like.|Potential.		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	DNP	ENST00000380320.4	37	c.2566_2567GG>AA	CCDS1733.1																																																																																				0.545	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		36	103	0	0	0	0	36	103				
SLC30A3	7781	broad.mit.edu	37	2	27479726	27479726	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27479726G>A	ENST00000233535.4	-	6	1165	c.813C>T	c.(811-813)ttC>ttT	p.F271F	SLC30A3_ENST00000447008.2_Silent_p.F266F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	271					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGAAGAGGAAGGTGCTGA	0.572																																						uc002rjk.2		NA																	0					0						c.(811-813)TTC>TTT		solute carrier family 30 (zinc transporter),							104.0	111.0	109.0					2																	27479726		2203	4300	6503	SO:0001819	synonymous_variant	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27479726G>A	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.813C>T	2.37:g.27479726G>A						SLC30A3_uc002rjj.2_Missense_Mutation_p.S117F|SLC30A3_uc010ylh.1_Silent_p.F266F	p.F271F	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			6	999	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		271			Helical; (Potential).		Q8TC03	Silent	SNP	ENST00000233535.4	37	c.813C>T	CCDS1743.1																																																																																				0.572	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			10	29	0	0	0	0	10	29				
SLC30A3	7781	broad.mit.edu	37	2	27481075	27481075	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27481075G>A	ENST00000233535.4	-	3	730	c.378C>T	c.(376-378)tcC>tcT	p.S126S	SLC30A3_ENST00000447008.2_Silent_p.S121S	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	126					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGACGGGTGGAGAGCCAGA	0.637																																						uc002rjk.2		NA																	0					0						c.(376-378)TCC>TCT		solute carrier family 30 (zinc transporter),							63.0	66.0	65.0					2																	27481075		2203	4300	6503	SO:0001819	synonymous_variant	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27481075G>A	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.378C>T	2.37:g.27481075G>A						SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Silent_p.S121S	p.S126S	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			3	564	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		126			Helical; (Potential).		Q8TC03	Silent	SNP	ENST00000233535.4	37	c.378C>T	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	g	0.394	-0.921698	0.02396	.	.	ENSG00000115194	ENST00000445870	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.56077	0.1961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75249	-0.3384	4	.	.	.	-18.8824	13.1692	0.59589	0.2683:0.0712:0.5902:0.0703	.	.	.	.	Y	115	.	.	H	-	1	0	SLC30A3	27334579	0.000000	0.05858	0.008000	0.14137	0.245000	0.25701	-2.444000	0.01012	-4.431000	0.00049	-4.323000	0.00007	CAC		0.637	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			23	53	0	0	0	0	23	53				
SNX17	9784	broad.mit.edu	37	2	27599207	27599207	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27599207C>T	ENST00000233575.2	+	13	1432	c.1210C>T	c.(1210-1212)Ctg>Ttg	p.L404L	ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000542478.1_Silent_p.L190L|SNX17_ENST00000543024.1_Silent_p.L190L|SNX17_ENST00000537606.1_Silent_p.L379L	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	404	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGGGTACTCTGAGACGCTC	0.602																																						uc002rkg.1		NA																	0				ovary(1)	1						c.(1210-1212)CTG>TTG		sorting nexin 17							62.0	69.0	67.0					2																	27599207		2203	4300	6503	SO:0001819	synonymous_variant	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27599207C>T	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1210C>T	2.37:g.27599207C>T						SNX17_uc010ylj.1_Silent_p.L384L|SNX17_uc010ylk.1_Silent_p.L190L|SNX17_uc010eza.1_Silent_p.L190L|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Silent_p.L190L|SNX17_uc010yll.1_Silent_p.L190L|SNX17_uc010ylm.1_Silent_p.L190L|SNX17_uc010yln.1_Silent_p.L392L|SNX17_uc010ylo.1_Silent_p.L322L|SNX17_uc010ylp.1_Silent_p.L379L|SNX17_uc010ylq.1_Silent_p.L190L	p.L404L	NM_014748	NP_055563	Q15036	SNX17_HUMAN			13	1432	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		404					B4DQM7|Q53HN7|Q6IAS3	Silent	SNP	ENST00000233575.2	37	c.1210C>T	CCDS1750.1																																																																																				0.602	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		42	99	0	0	0	0	42	99				
FAM179A	165186	broad.mit.edu	37	2	29259474	29259474	+	Missense_Mutation	SNP	C	C	T	rs552831870		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:29259474C>T	ENST00000379558.4	+	18	2837	c.2486C>T	c.(2485-2487)tCc>tTc	p.S829F	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.S774F	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	829										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCGCTGGAGTCCTTCGCCAAG	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19663	0.0		0.0	False		,,,				2504	0.001					uc010ezl.2		NA																	0				ovary(3)|skin(1)	4						c.(2485-2487)TCC>TTC		hypothetical protein LOC165186							127.0	107.0	114.0					2																	29259474		2203	4300	6503	SO:0001583	missense	165186						binding	g.chr2:29259474C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2486C>T	2.37:g.29259474C>T	ENSP00000368876:p.Ser829Phe					FAM179A_uc010ymm.1_Missense_Mutation_p.S774F|FAM179A_uc002rmr.3_Missense_Mutation_p.S356F|FAM179A_uc002rms.1_Missense_Mutation_p.S127F	p.S829F	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			18	2837	+			829					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2486C>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600257	0.66332	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.16597	2.33;2.33	6.04	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.393254	0.24912	N	0.034616	T	0.38054	0.1026	M	0.66939	2.045	0.40854	D	0.983778	D;D;D	0.67145	0.996;0.993;0.989	D;P;P	0.65010	0.931;0.855;0.885	T	0.02991	-1.1085	10	0.45353	T	0.12	.	15.4027	0.74855	0.0:0.9318:0.0:0.0682	.	774;829;127	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	F	829;774	ENSP00000368876:S829F;ENSP00000384699:S774F	ENSP00000368876:S829F	S	+	2	0	FAM179A	29112978	0.981000	0.34729	0.868000	0.34077	0.193000	0.23685	2.875000	0.48491	2.873000	0.98535	0.561000	0.74099	TCC		0.512	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		13	57	0	0	0	0	13	57				
CDKL4	344387	broad.mit.edu	37	2	39406422	39406422	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:39406422G>A	ENST00000395035.3	-	8	832	c.833C>T	c.(832-834)tCc>tTc	p.S278F	CDKL4_ENST00000378803.1_Missense_Mutation_p.S278F			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				CAGGAGTTGGGAACAGGTTAA	0.433																																						uc002rrm.2		NA																	0				ovary(1)	1						c.(832-834)TCC>TTC		cyclin-dependent kinase-like 4							88.0	88.0	88.0					2																	39406422		2203	4300	6503	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39406422G>A		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.833C>T	2.37:g.39406422G>A	ENSP00000378476:p.Ser278Phe					CDKL4_uc010fal.1_Missense_Mutation_p.S278F	p.S278F	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN			8	833	-		all_hematologic(82;0.248)	278			Protein kinase.		Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.833C>T		.	.	.	.	.	.	.	.	.	.	G	12.80	2.045738	0.36085	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	T;T;T	0.66460	2.7;-0.21;-0.21	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114418	0.39341	N	0.001390	T	0.69886	0.3161	L	0.39692	1.235	0.34094	D	0.661084	P;B	0.49358	0.923;0.003	P;B	0.53266	0.722;0.021	T	0.79291	-0.1864	10	0.87932	D	0	-9.168	15.2756	0.73739	0.0:0.0:1.0:0.0	.	278;278	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	F	60;278;278	ENSP00000389833:S60F;ENSP00000368080:S278F;ENSP00000378476:S278F	ENSP00000368080:S278F	S	-	2	0	CDKL4	39259926	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	2.867000	0.48428	2.676000	0.91093	0.655000	0.94253	TCC		0.433	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		16	105	0	0	0	0	16	105				
THADA	63892	broad.mit.edu	37	2	43779473	43779473	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:43779473T>A	ENST00000405006.4	-	18	3031	c.2680A>T	c.(2680-2682)Aaa>Taa	p.K894*	THADA_ENST00000330266.7_Nonsense_Mutation_p.K604*|THADA_ENST00000402360.2_Nonsense_Mutation_p.K894*|THADA_ENST00000405975.2_Nonsense_Mutation_p.K894*|THADA_ENST00000415080.2_Nonsense_Mutation_p.K604*	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	894										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATCAAGCATTTGATAACTAGA	0.368																																						uc002rsw.3		NA																	0				ovary(2)|skin(1)	3						c.(2680-2682)AAA>TAA		thyroid adenoma associated							37.0	35.0	36.0					2																	43779473		1829	4105	5934	SO:0001587	stop_gained	63892						binding	g.chr2:43779473T>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2680A>T	2.37:g.43779473T>A	ENSP00000385995:p.Lys894*					THADA_uc010far.2_Nonsense_Mutation_p.K163*|THADA_uc002rsx.3_Nonsense_Mutation_p.K894*|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Nonsense_Mutation_p.K604*|THADA_uc010fat.1_Nonsense_Mutation_p.K42*|THADA_uc002rta.2_Nonsense_Mutation_p.K604*|THADA_uc002rtb.1_Nonsense_Mutation_p.K894*	p.K894*	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			18	3032	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	894			Potential.		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Nonsense_Mutation	SNP	ENST00000405006.4	37	c.2680A>T	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	T	37	6.171354	0.97343	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360	.	.	.	5.86	4.72	0.59763	.	0.108708	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2708	11.3548	0.49609	0.0:0.0703:0.0:0.9297	.	.	.	.	X	604;894;895;604;894;894	.	ENSP00000331105:K604X	K	-	1	0	THADA	43632977	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.793000	0.47845	2.241000	0.73720	0.482000	0.46254	AAA		0.368	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		10	29	0	0	0	0	10	29				
PLEKHH2	130271	broad.mit.edu	37	2	43992618	43992618	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:43992618C>T	ENST00000282406.4	+	30	4473	c.4363C>T	c.(4363-4365)Cac>Tac	p.H1455Y		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1455					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGCAGCATTTCACCACCTCTC	0.483																																						uc010yny.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(4363-4365)CAC>TAC		pleckstrin homology domain containing, family H							92.0	94.0	93.0					2																	43992618		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43992618C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.4363C>T	2.37:g.43992618C>T	ENSP00000282406:p.His1455Tyr						p.H1455Y	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			30	4446	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1455					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.4363C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808734	0.90707	.	.	ENSG00000152527	ENST00000282406	T	0.73897	-0.79	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	L	0.40543	1.245	0.80722	D	1	D	0.61080	0.989	P	0.61201	0.885	T	0.80183	-0.1488	10	0.48119	T	0.1	-24.523	19.7343	0.96195	0.0:1.0:0.0:0.0	.	1455	Q8IVE3	PKHH2_HUMAN	Y	1455	ENSP00000282406:H1455Y	ENSP00000282406:H1455Y	H	+	1	0	PLEKHH2	43846122	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.346000	0.65992	2.660000	0.90430	0.467000	0.42956	CAC		0.483	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		23	74	0	0	0	0	23	74				
SIX3	6496	broad.mit.edu	37	2	45169459	45169460	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:45169459_45169460CC>TT	ENST00000260653.3	+	1	558_559	c.216_217CC>TT	c.(214-219)gcCCcc>gcTTcc	p.P73S	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	73	Interaction with AES. {ECO:0000250|UniProtKB:Q62233}.				brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				gcTCCAGGGCCCCCCCGGAAGA	0.757																																						uc002run.1		NA																	0					0						c.(214-219)GCCCCC>GCTTCC		SIX homeobox 3																																				SO:0001583	missense	6496				visual perception	nucleus		g.chr2:45169459_45169460CC>TT	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	Exception_encountered	2.37:g.45169459_45169460delinsTT	ENSP00000260653:p.Pro73Ser						p.P73S	NM_005413	NP_005404	O95343	SIX3_HUMAN			1	423_424	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	73					D6W5A5|Q53T42	Missense_Mutation	DNP	ENST00000260653.3	37	c.216_217CC>TT	CCDS1821.1																																																																																				0.757	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		9	9	0	0	0	0	9	9				
PPP1R21	129285	broad.mit.edu	37	2	48734518	48734518	+	Nonsense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48734518T>G	ENST00000294952.8	+	19	2236	c.2079T>G	c.(2077-2079)taT>taG	p.Y693*	PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.Y682*|PPP1R21_ENST00000476199.1_3'UTR|PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.Y651*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	693						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TGCATTTTTATGCCGAGGTGA	0.418																																						uc002rwm.2		NA																	0				ovary(1)	1						c.(2077-2079)TAT>TAG		KLRAQ motif containing 1 isoform 1							161.0	144.0	150.0					2																	48734518		2203	4300	6503	SO:0001587	stop_gained	129285							g.chr2:48734518T>G	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.2079T>G	2.37:g.48734518T>G	ENSP00000294952:p.Tyr693*					KLRAQ1_uc002rwl.2_Nonsense_Mutation_p.Y647*|KLRAQ1_uc002rwk.2_Nonsense_Mutation_p.Y682*|KLRAQ1_uc010yok.1_Nonsense_Mutation_p.Y651*	p.Y693*	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			19	2264	+			693			Potential.		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	ENST00000294952.8	37	c.2079T>G	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	T	39	7.788263	0.98489	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	4.8	1.59	0.23543	.	0.101813	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9792	8.3483	0.32286	0.0:0.2144:0.0:0.7856	.	.	.	.	X	682;693;651	.	ENSP00000281394:Y682X	Y	+	3	2	KLRAQ1	48588022	0.996000	0.38824	0.999000	0.59377	0.991000	0.79684	0.311000	0.19380	0.189000	0.20188	0.533000	0.62120	TAT		0.418	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		15	84	0	0	0	0	15	84				
STON1	11037	broad.mit.edu	37	2	48809495	48809495	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48809495C>T	ENST00000406226.1	+	3	1918	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P575S|STON1_ENST00000404752.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P575S|STON1_ENST00000309835.3_Missense_Mutation_p.P575S	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	575	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTTCCTGTCCCATCGCAGTG	0.498																																						uc010yol.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1723-1725)CCA>TCA		stonin 1							118.0	118.0	118.0					2																	48809495		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48809495C>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1723C>T	2.37:g.48809495C>T	ENSP00000384615:p.Pro575Ser					STON1_uc002rwo.3_Missense_Mutation_p.P575S|STON1_uc010fbm.2_Missense_Mutation_p.P575S|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P575S|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.P575S	p.P575S	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1770	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	575					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1723C>T	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354377	0.82243	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.65	5.65	0.86999	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.99;1.0;1.0	T	0.70296	-0.4911	10	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	575;575;575	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	S	575	ENSP00000385273:P575S;ENSP00000384615:P575S;ENSP00000310969:P575S;ENSP00000385499:P575S;ENSP00000385701:P575S;ENSP00000378236:P575S;ENSP00000311493:P575S;ENSP00000378234:P575S	ENSP00000310969:P575S	P	+	1	0	STON1-GTF2A1L;STON1	48662999	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	7.610000	0.82949	2.941000	0.99782	0.655000	0.94253	CCA		0.498	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		22	141	0	0	0	0	22	141				
GTF2A1L	11036	broad.mit.edu	37	2	48874001	48874001	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48874001T>C	ENST00000403751.3	+	6	835	c.798T>C	c.(796-798)ggT>ggC	p.G266G	STON1-GTF2A1L_ENST00000394754.1_Silent_p.G970G|STON1-GTF2A1L_ENST00000309827.2_Silent_p.G970G|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Silent_p.G970G|STON1-GTF2A1L_ENST00000402114.2_Silent_p.G970G|STON1-GTF2A1L_ENST00000394751.3_Silent_p.G923G|GTF2A1L_ENST00000430487.2_Silent_p.G232G	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	266					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTCAGTGGTTCAGCTAGCA	0.453																																						uc010yol.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2767-2769)GGT>GGC		stonin 1							97.0	95.0	95.0					2																	48874001		2203	4300	6503	SO:0001819	synonymous_variant	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48874001T>C	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.798T>C	2.37:g.48874001T>C						STON1-GTF2A1L_uc002rwp.1_Silent_p.G970G|GTF2A1L_uc002rws.1_Silent_p.G266G|GTF2A1L_uc010yom.1_Silent_p.G232G|GTF2A1L_uc002rwt.2_Silent_p.G266G	p.G923G	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2816	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	923					B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	c.2769T>C	CCDS46281.1																																																																																				0.453	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		20	44	0	0	0	0	20	44				
GTF2A1L	11036	broad.mit.edu	37	2	48906536	48906536	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48906536G>A	ENST00000403751.3	+	9	1429	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	STON1-GTF2A1L_ENST00000394754.1_Silent_p.G1168G|STON1-GTF2A1L_ENST00000309827.2_Silent_p.G1168G|STON1-GTF2A1L_ENST00000405008.1_Silent_p.G1168G|STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Silent_p.G1121G|GTF2A1L_ENST00000430487.2_Silent_p.G430G	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	464					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTTTGGAGGGAGAGACTATG	0.348																																						uc010yol.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(3361-3363)GGG>GGA		stonin 1							181.0	168.0	173.0					2																	48906536		2203	4300	6503	SO:0001819	synonymous_variant	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48906536G>A	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1392G>A	2.37:g.48906536G>A						STON1-GTF2A1L_uc002rwp.1_Silent_p.G1168G|GTF2A1L_uc002rws.1_Silent_p.G464G|GTF2A1L_uc010yom.1_Silent_p.G430G|GTF2A1L_uc002rwt.2_Intron	p.G1121G	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		8	3410	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	1121					B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	c.3363G>A	CCDS46281.1																																																																																				0.348	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		18	74	0	0	0	0	18	74				
FSHR	2492	broad.mit.edu	37	2	49381544	49381544	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:49381544G>A	ENST00000406846.2	-	1	132	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	FSHR_ENST00000346173.3_Silent_p.L5L|FSHR_ENST00000304421.4_Silent_p.L5L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	5					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAAGAGACCAGGAGCAGGGCC	0.493									Gonadal Dysgenesis, 46 XX																													uc002rww.2		NA																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(13-15)CTG>TTG		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						80.0	86.0	84.0					2																	49381544		2203	4300	6503	SO:0001819	synonymous_variant	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49381544G>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.13C>T	2.37:g.49381544G>A						FSHR_uc002rwx.2_Silent_p.L5L|FSHR_uc010fbn.2_Silent_p.L5L|FSHR_uc010fbo.1_RNA	p.L5L	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	87	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	5					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.13C>T	CCDS1843.1																																																																																				0.493	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			14	56	0	0	0	0	14	56				
NRXN1	9378	broad.mit.edu	37	2	51254989	51254989	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:51254989C>T	ENST00000406316.2	-	2	1899	c.423G>A	c.(421-423)aaG>aaA	p.K141K	NRXN1_ENST00000405581.1_Silent_p.K141K|NRXN1_ENST00000401669.2_Silent_p.K141K|NRXN1_ENST00000406859.3_Silent_p.K141K|NRXN1_ENST00000405472.3_Silent_p.K141K|NRXN1_ENST00000402717.3_Silent_p.K141K|NRXN1_ENST00000404971.1_Silent_p.K141K	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	141	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCGCTTGGACTTGACCTCCA	0.677																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(421-423)AAG>AAA		neurexin 1 isoform alpha2 precursor							29.0	35.0	33.0					2																	51254989		2147	4253	6400	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51254989C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.423G>A	2.37:g.51254989C>T						NRXN1_uc002rxe.3_Silent_p.K141K|NRXN1_uc002rxd.1_Silent_p.K141K	p.K141K	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1900	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.423G>A	CCDS54360.1																																																																																				0.677	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	34	0	0	0	0	4	34				
SPTBN1	6711	broad.mit.edu	37	2	54891677	54891677	+	Missense_Mutation	SNP	C	C	T	rs202001000		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:54891677C>T	ENST00000356805.4	+	33	6789	c.6508C>T	c.(6508-6510)Ccg>Tcg	p.P2170S	AC093110.3_ENST00000456363.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2170	Mediates interaction with CAMSAP1.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CATCCCCTCCCCGACCTCTGA	0.592																																						uc002rxu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(6508-6510)CCG>TCG		spectrin, beta, non-erythrocytic 1 isoform 1							146.0	135.0	139.0					2																	54891677		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54891677C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6508C>T	2.37:g.54891677C>T	ENSP00000349259:p.Pro2170Ser					SPTBN1_uc010you.1_Missense_Mutation_p.P160S	p.P2170S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		33	6757	+			2170					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.6508C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461396	0.43736	.	.	ENSG00000115306	ENST00000356805	T	0.69561	-0.41	5.93	5.93	0.95920	.	0.065903	0.64402	D	0.000010	T	0.50582	0.1624	N	0.14661	0.345	0.80722	D	1	P;B	0.36144	0.539;0.004	B;B	0.28011	0.085;0.01	T	0.51140	-0.8743	10	0.36615	T	0.2	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	160;2170	B4DIF8;Q01082	.;SPTB2_HUMAN	S	2170	ENSP00000349259:P2170S	ENSP00000349259:P2170S	P	+	1	0	SPTBN1	54745181	0.984000	0.35163	0.977000	0.42913	0.910000	0.53928	3.855000	0.55957	2.826000	0.97356	0.655000	0.94253	CCG		0.592	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			41	117	0	0	0	0	41	117				
RTN4	57142	broad.mit.edu	37	2	55209756	55209756	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:55209756C>T	ENST00000337526.6	-	5	3498	c.3255G>A	c.(3253-3255)gaG>gaA	p.E1085E	RTN4_ENST00000317610.7_Silent_p.E266E|RTN4_ENST00000402434.2_Silent_p.E238E|RTN4_ENST00000357732.4_Silent_p.E285E|RTN4_ENST00000405240.1_Silent_p.E879E|RTN4_ENST00000354474.6_Silent_p.E853E|RTN4_ENST00000394609.2_Silent_p.E92E|RTN4_ENST00000394611.2_Silent_p.E879E|RTN4_ENST00000357376.3_Silent_p.E879E|RTN4_ENST00000404909.1_Silent_p.E879E|RTN4_ENST00000486085.1_5'UTR	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1085	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GAACCAACTCCTCAGATATAG	0.383																																						uc002rye.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(3253-3255)GAG>GAA		reticulon 4 isoform A							108.0	101.0	103.0					2																	55209756		2203	4300	6503	SO:0001819	synonymous_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55209756C>T	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.3255G>A	2.37:g.55209756C>T						RTN4_uc002ryc.2_Silent_p.E92E|RTN4_uc002ryd.2_Silent_p.E879E|RTN4_uc002ryf.2_Silent_p.E285E|RTN4_uc002ryg.2_Silent_p.E266E	p.E1085E	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			5	3553	-			1085			Lumenal (Potential).|Reticulon.		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Silent	SNP	ENST00000337526.6	37	c.3255G>A	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	9.648	1.140733	0.21205	.	.	ENSG00000115310	ENST00000438462	.	.	.	5.84	4.96	0.65561	.	.	.	.	.	T	0.62841	0.2461	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61382	-0.7074	4	.	.	.	-15.1731	11.2179	0.48838	0.0:0.8089:0.0:0.1911	.	.	.	.	R	109	.	.	G	-	1	0	RTN4	55063260	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	0.431000	0.21444	1.475000	0.48197	0.591000	0.81541	GGA		0.383	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			31	62	0	0	0	0	31	62				
CCDC85A	114800	broad.mit.edu	37	2	56420170	56420171	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:56420170_56420171CC>TT	ENST00000407595.2	+	2	1337_1338	c.835_836CC>TT	c.(835-837)CCg>TTg	p.P279L	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	279	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGACCTAGCCCGGAGCACCAC	0.644																																						uc002rzn.2		NA																	0				breast(3)|ovary(2)	5						c.(835-837)CCG>TTG		coiled-coil domain containing 85A																																				SO:0001583	missense	114800							g.chr2:56420170_56420171CC>TT	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	Exception_encountered	2.37:g.56420170_56420171delinsTT	ENSP00000384040:p.Pro279Leu						p.P279L	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1337_1338	+			279			His-rich.			Missense_Mutation	DNP	ENST00000407595.2	37	c.835_836CC>TT	CCDS46290.1																																																																																				0.644	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			28	71	0	0	0	0	28	71				
BCL11A	53335	broad.mit.edu	37	2	60689546	60689546	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:60689546G>A	ENST00000335712.6	-	4	728	c.501C>T	c.(499-501)ccC>ccT	p.P167P	BCL11A_ENST00000358510.4_Silent_p.P133P|BCL11A_ENST00000359629.5_Silent_p.P167P|BCL11A_ENST00000537768.1_Silent_p.P15P|BCL11A_ENST00000538214.1_Silent_p.P133P|BCL11A_ENST00000356842.4_Silent_p.P167P|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	167	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTAGCTGCTGGGCTCATCTT	0.423			T	IGH@	B-CLL																																	uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(499-501)CCC>CCT		B-cell CLL/lymphoma 11A isoform 1							67.0	68.0	68.0					2																	60689546		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689546G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.501C>T	2.37:g.60689546G>A						BCL11A_uc002sab.2_Silent_p.P167P|BCL11A_uc002sac.2_Silent_p.P167P|BCL11A_uc010ypi.1_Silent_p.P15P|BCL11A_uc010ypj.1_Silent_p.P133P|BCL11A_uc002sad.1_Silent_p.P15P|BCL11A_uc002saf.1_Silent_p.P133P	p.P167P	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	729	-			167			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.501C>T	CCDS1862.1																																																																																				0.423	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		16	90	0	0	0	0	16	90				
AFTPH	54812	broad.mit.edu	37	2	64796332	64796332	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:64796332G>A	ENST00000422803.1	+	4	2508	c.2194G>A	c.(2194-2196)Gga>Aga	p.G732R	AFTPH_ENST00000238855.7_Missense_Mutation_p.G732R|AFTPH_ENST00000409183.1_Missense_Mutation_p.G363R|AFTPH_ENST00000409933.1_Missense_Mutation_p.G732R|AFTPH_ENST00000238856.4_Missense_Mutation_p.G732R|AFTPH_ENST00000487769.1_Intron			Q6ULP2	AFTIN_HUMAN	aftiphilin	732					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GTCCTCCTTGGGAATAGACAC	0.423																																						uc002sdc.2		NA																	0				ovary(2)	2						c.(2194-2196)GGA>AGA		aftiphilin protein isoform a							144.0	135.0	138.0					2																	64796332		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64796332G>A	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2194G>A	2.37:g.64796332G>A	ENSP00000397726:p.Gly732Arg					AFTPH_uc002scz.2_Missense_Mutation_p.G732R|AFTPH_uc002sda.2_Missense_Mutation_p.G732R|AFTPH_uc002sdb.2_Missense_Mutation_p.G732R	p.G732R	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			3	2226	+			732					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.2194G>A		.	.	.	.	.	.	.	.	.	.	G	29.6	5.023776	0.93462	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.58210	1.48;1.41;1.4;1.4;0.35	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.988;0.998	T	0.80246	-0.1462	10	0.87932	D	0	-11.732	18.6823	0.91551	0.0:0.0:1.0:0.0	.	732;732;732;732	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	R	732;732;732;732;363	ENSP00000238856:G732R;ENSP00000397726:G732R;ENSP00000238855:G732R;ENSP00000387071:G732R;ENSP00000386913:G363R	ENSP00000238855:G732R	G	+	1	0	AFTPH	64649836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.770000	0.98971	2.473000	0.83533	0.650000	0.86243	GGA		0.423	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		39	65	0	0	0	0	39	65				
GKN2	200504	broad.mit.edu	37	2	69172545	69172545	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:69172545G>A	ENST00000328895.4	-	6	618	c.510C>T	c.(508-510)ctC>ctT	p.L170L	GKN2_ENST00000481498.1_3'UTR	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	170						extracellular region (GO:0005576)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AGATGCCCAGGAGCCCAGCCT	0.368																																						uc002sfa.2		NA																	0					0						c.(508-510)CTC>CTT		trefoil factor interactions(z) 1 precursor							96.0	109.0	105.0					2																	69172545		2203	4300	6503	SO:0001819	synonymous_variant	200504					extracellular region		g.chr2:69172545G>A	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.510C>T	2.37:g.69172545G>A						GKN2_uc002sfb.3_3'UTR	p.L170L	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN			6	619	-			170					Q6UWS6	Silent	SNP	ENST00000328895.4	37	c.510C>T	CCDS33215.1																																																																																				0.368	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		39	176	0	0	0	0	39	176				
GMCL1	64395	broad.mit.edu	37	2	70076805	70076805	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:70076805C>T	ENST00000282570.3	+	8	1116	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	289					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TCAACTTGTGCCTTCTTGGAA	0.299																																						uc002sfu.2		NA																	0				ovary(3)	3						c.(865-867)CCT>TCT		germ cell-less							79.0	81.0	81.0					2																	70076805		2203	4300	6503	SO:0001583	missense	64395				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		g.chr2:70076805C>T	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.865C>T	2.37:g.70076805C>T	ENSP00000282570:p.Pro289Ser						p.P289S	NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN			8	1072	+			289					Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	c.865C>T	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908343	0.72868	.	.	ENSG00000087338	ENST00000282570	T	0.58210	0.35	5.56	5.56	0.83823	BTB/Kelch-associated (1);	0.052324	0.85682	D	0.000000	T	0.73281	0.3567	M	0.78049	2.395	0.58432	D	0.999997	D	0.65815	0.995	D	0.71414	0.973	T	0.75950	-0.3137	10	0.66056	D	0.02	-22.2669	17.0154	0.86418	0.0:1.0:0.0:0.0	.	289	Q96IK5	GMCL1_HUMAN	S	289	ENSP00000282570:P289S	ENSP00000282570:P289S	P	+	1	0	GMCL1	69930309	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.052000	0.57420	2.605000	0.88082	0.655000	0.94253	CCT		0.299	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		12	71	0	0	0	0	12	71				
DYSF	8291	broad.mit.edu	37	2	71892332	71892332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:71892332C>T	ENST00000258104.3	+	46	5375	c.5098C>T	c.(5098-5100)Cag>Tag	p.Q1700*	DYSF_ENST00000410020.3_Nonsense_Mutation_p.Q1739*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.Q1718*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.Q1731*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.Q1708*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.Q1717*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.Q1721*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Nonsense_Mutation_p.Q1722*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.Q1701*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.Q1738*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.Q1732*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1700					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGCCCCTCCCAGCTCCTCCA	0.532																																						uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(5098-5100)CAG>TAG		dysferlin isoform 8							96.0	96.0	96.0					2																	71892332		2203	4300	6503	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71892332C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5098C>T	2.37:g.71892332C>T	ENSP00000258104:p.Gln1700*					DYSF_uc010feg.2_Nonsense_Mutation_p.Q1731*|DYSF_uc010feh.2_Nonsense_Mutation_p.Q1707*|DYSF_uc002sig.3_Nonsense_Mutation_p.Q1686*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.Q1721*|DYSF_uc010fef.2_Nonsense_Mutation_p.Q1738*|DYSF_uc010fei.2_Nonsense_Mutation_p.Q1717*|DYSF_uc010fek.2_Nonsense_Mutation_p.Q1718*|DYSF_uc010fej.2_Nonsense_Mutation_p.Q1708*|DYSF_uc010fel.2_Nonsense_Mutation_p.Q1687*|DYSF_uc010feo.2_Nonsense_Mutation_p.Q1732*|DYSF_uc010fem.2_Nonsense_Mutation_p.Q1722*|DYSF_uc010fen.2_Nonsense_Mutation_p.Q1739*|DYSF_uc002sif.2_Nonsense_Mutation_p.Q1701*|DYSF_uc010yqy.1_Nonsense_Mutation_p.Q581*|DYSF_uc010yqz.1_Nonsense_Mutation_p.Q461*	p.Q1700*	NM_003494	NP_003485	O75923	DYSF_HUMAN			46	5474	+			1700			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.5098C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	47	13.288063	0.99732	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.41	5.41	0.78517	.	0.191661	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.8257	12.4368	0.55604	0.0:0.8311:0.1689:0.0	.	.	.	.	X	1731;1717;1738;1721;1700;1732;1701;1708;1722;1739;1718	.	ENSP00000258104:Q1700X	Q	+	1	0	DYSF	71745840	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.920000	0.48844	2.532000	0.85374	0.655000	0.94253	CAG		0.532	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		9	96	0	0	0	0	9	96				
ALMS1	7840	broad.mit.edu	37	2	73680577	73680577	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:73680577C>T	ENST00000264448.6	+	8	7031	c.6920C>T	c.(6919-6921)tCc>tTc	p.S2307F	ALMS1_ENST00000377715.1_Missense_Mutation_p.S2307F|ALMS1_ENST00000409009.1_Missense_Mutation_p.S2265F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2307					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						GAACCCTCTTCCACGGGTGTA	0.433																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(6925-6927)TCC>TTC		Alstrom syndrome 1							84.0	80.0	82.0					2																	73680577		1870	4093	5963	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73680577C>T	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.6920C>T	2.37:g.73680577C>T	ENSP00000264448:p.Ser2307Phe					ALMS1_uc002sjf.1_Missense_Mutation_p.S2265F|ALMS1_uc002sjg.2_Missense_Mutation_p.S1695F|ALMS1_uc002sjh.1_Missense_Mutation_p.S1695F	p.S2309F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	7037	+			2307					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.6926C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	7.860	0.725950	0.15439	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14144	3.42;3.42;2.53	5.66	-0.217	0.13149	.	1.114660	0.06789	N	0.786652	T	0.10294	0.0252	L	0.34521	1.04	0.09310	N	1	B;B;B	0.29508	0.246;0.246;0.246	B;B;B	0.29353	0.101;0.101;0.101	T	0.39099	-0.9630	10	0.87932	D	0	.	3.5358	0.07793	0.181:0.3448:0.0:0.4743	.	2307;2265;2307	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	F	2265;2307;2307	ENSP00000386627:S2265F;ENSP00000264448:S2307F;ENSP00000366944:S2307F	ENSP00000264448:S2307F	S	+	2	0	ALMS1	73534085	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	0.247000	0.18179	0.030000	0.15379	-0.793000	0.03317	TCC		0.433	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		24	47	0	0	0	0	24	47				
ALMS1	7840	broad.mit.edu	37	2	73718483	73718483	+	Missense_Mutation	SNP	C	C	T	rs45493191		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:73718483C>T	ENST00000264448.6	+	10	9505	c.9394C>T	c.(9394-9396)Cca>Tca	p.P3132S	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.P3090S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3132					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						GCCTTCTCTTCCAGACAGTAA	0.393																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(9400-9402)CCA>TCA		Alstrom syndrome 1							100.0	93.0	95.0					2																	73718483		1851	4099	5950	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73718483C>T	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.9394C>T	2.37:g.73718483C>T	ENSP00000264448:p.Pro3132Ser					ALMS1_uc002sjf.1_Missense_Mutation_p.P3090S|ALMS1_uc002sjg.2_Missense_Mutation_p.P2520S|ALMS1_uc002sjh.1_Missense_Mutation_p.P2520S	p.P3134S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	9511	+			3132					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.9400C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140513	0.37825	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08634	3.07;3.07	4.25	3.37	0.38596	.	0.169650	0.28595	N	0.014792	T	0.14227	0.0344	L	0.46157	1.445	0.80722	D	1	D;D;D	0.53312	0.959;0.959;0.959	P;P;P	0.54026	0.74;0.74;0.74	T	0.01208	-1.1418	10	0.56958	D	0.05	.	9.8032	0.40777	0.2036:0.7964:0.0:0.0	.	3132;3090;3132	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	3090;3132	ENSP00000386627:P3090S;ENSP00000264448:P3132S	ENSP00000264448:P3132S	P	+	1	0	ALMS1	73571991	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.286000	0.33273	1.379000	0.46325	0.645000	0.84053	CCA		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		20	104	0	0	0	0	20	104				
M1AP	130951	broad.mit.edu	37	2	74834236	74834236	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:74834236C>T	ENST00000290536.5	-	4	657	c.541G>A	c.(541-543)Gga>Aga	p.G181R	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.G181R|M1AP_ENST00000409585.1_Missense_Mutation_p.G181R	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	181					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TCTAGGATTCCCTTTGTGACC	0.433																																						uc002smy.2		NA																	0				ovary(1)|pancreas(1)	2						c.(541-543)GGA>AGA		hypothetical protein LOC130951							144.0	126.0	132.0					2																	74834236		2203	4300	6503	SO:0001583	missense	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74834236C>T		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.541G>A	2.37:g.74834236C>T	ENSP00000290536:p.Gly181Arg					C2orf65_uc010ysa.1_Missense_Mutation_p.G181R|C2orf65_uc002smz.2_Missense_Mutation_p.G181R	p.G181R	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			4	658	-			181					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.541G>A	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365304	0.41902	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	T;T;T	0.26957	1.7;1.7;1.7	5.98	5.11	0.69529	.	0.607939	0.17579	N	0.169211	T	0.37046	0.0989	M	0.64997	1.995	0.80722	D	1	P;B;P	0.49635	0.926;0.208;0.926	P;B;P	0.51806	0.68;0.059;0.68	T	0.07083	-1.0791	10	0.38643	T	0.18	-0.0142	11.051	0.47889	0.0:0.9149:0.0:0.0851	.	181;181;181	E9PGG8;Q8TC57-2;Q8TC57	.;.;CB065_HUMAN	R	181	ENSP00000290536:G181R;ENSP00000386793:G181R;ENSP00000445662:G181R	ENSP00000290536:G181R	G	-	1	0	C2orf65	74687744	0.004000	0.15560	0.502000	0.27614	0.956000	0.61745	1.095000	0.30964	1.535000	0.49220	0.591000	0.81541	GGA		0.433	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		32	68	0	0	0	0	32	68				
REG1B	5968	broad.mit.edu	37	2	79312675	79312675	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:79312675T>G	ENST00000305089.3	-	5	456	c.376A>C	c.(376-378)Act>Cct	p.T126P		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	126	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GGGGATCCAGTGTCCCAGGAC	0.557																																						uc002sny.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(376-378)ACT>CCT		regenerating islet-derived 1 beta precursor							94.0	85.0	88.0					2																	79312675		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79312675T>G		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.376A>C	2.37:g.79312675T>G	ENSP00000303206:p.Thr126Pro					REG1B_uc010ffv.1_3'UTR	p.T126P	NM_006507	NP_006498	P48304	REG1B_HUMAN			5	488	-			126			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.376A>C	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	t	7.845	0.722763	0.15439	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.06687	3.27;3.27	3.78	-0.331	0.12679	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	2.721080	0.01535	N	0.018951	T	0.03564	0.0102	N	0.03999	-0.3	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.33007	-0.9885	10	0.06236	T	0.91	.	4.4987	0.11853	0.0:0.1137:0.399:0.4873	.	126	P48304	REG1B_HUMAN	P	77;126	ENSP00000387410:T77P;ENSP00000303206:T126P	ENSP00000303206:T126P	T	-	1	0	REG1B	79166183	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.142000	0.10311	-0.139000	0.11414	0.402000	0.26972	ACT		0.557	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		11	69	0	0	0	0	11	69				
GGCX	2677	broad.mit.edu	37	2	85782639	85782639	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:85782639A>T	ENST00000233838.4	-	6	773	c.693T>A	c.(691-693)taT>taA	p.Y231*	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Nonsense_Mutation_p.Y174*	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	231					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GCCGGGACAAATATTCCATGG	0.473																																						uc002sps.2		NA																	0				ovary(1)	1						c.(691-693)TAT>TAA		gamma-glutamyl carboxylase isoform 1	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						107.0	100.0	102.0					2																	85782639		2203	4300	6503	SO:0001587	stop_gained	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85782639A>T		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.693T>A	2.37:g.85782639A>T	ENSP00000233838:p.Tyr231*					GGCX_uc010yss.1_Nonsense_Mutation_p.Y70*|GGCX_uc010yst.1_Nonsense_Mutation_p.Y174*	p.Y231*	NM_000821	NP_000812	P38435	VKGC_HUMAN			6	799	-			231			Lumenal (Potential).		B4DMC5|E9PEE1|Q14415|Q6GU45	Nonsense_Mutation	SNP	ENST00000233838.4	37	c.693T>A	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	A	32	5.141020	0.94560	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	.	.	.	5.66	1.79	0.24919	.	0.436796	0.26983	N	0.021505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2624	8.1714	0.31258	0.4151:0.0:0.5849:0.0	.	.	.	.	X	231;174	.	ENSP00000233838:Y231X	Y	-	3	2	GGCX	85636150	0.180000	0.23148	0.045000	0.18777	0.951000	0.60555	-0.063000	0.11655	0.107000	0.17824	-0.242000	0.12053	TAT		0.473	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		20	59	0	0	0	0	20	59				
FAHD2A	51011	broad.mit.edu	37	2	96072818	96072818	+	Silent	SNP	C	C	T	rs575594756	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:96072818C>T	ENST00000233379.4	+	3	528	c.375C>T	c.(373-375)ccC>ccT	p.P125P	FAHD2A_ENST00000447036.1_Silent_p.P125P	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	125							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						AGAACGTGCCCGTGCCCAAGG	0.572													t|||	2	0.000399361	0.0	0.0	5008	,	,		19975	0.0		0.0	False		,,,				2504	0.002					uc002sur.2		NA																	0				ovary(1)	1						c.(373-375)CCC>CCT		fumarylacetoacetate hydrolase domain containing							79.0	62.0	68.0					2																	96072818		2203	4297	6500	SO:0001819	synonymous_variant	51011						hydrolase activity|metal ion binding	g.chr2:96072818C>T	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.375C>T	2.37:g.96072818C>T						FAHD2A_uc002sus.2_Silent_p.P125P	p.P125P	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN			3	554	+			125					Q9Y3B0	Silent	SNP	ENST00000233379.4	37	c.375C>T	CCDS2014.1																																																																																				0.572	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044		11	76	0	0	0	0	11	76				
ASTL	431705	broad.mit.edu	37	2	96789974	96789974	+	Missense_Mutation	SNP	G	G	A	rs565777679		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:96789974G>A	ENST00000342380.2	-	9	910	c.911C>T	c.(910-912)cCg>cTg	p.P304L		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TAGGGAGGCCGGAGCGGGGCT	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17308	0.0		0.0	False		,,,				2504	0.0					uc010yui.1		NA																	0					0						c.(910-912)CCG>CTG		astacin-like metalloendopeptidase precursor							11.0	14.0	13.0					2																	96789974		2171	4225	6396	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96789974G>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.911C>T	2.37:g.96789974G>A	ENSP00000343674:p.Pro304Leu						p.P304L	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			9	911	-			304						Missense_Mutation	SNP	ENST00000342380.2	37	c.911C>T	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149231	0.21288	.	.	ENSG00000188886	ENST00000342380	T	0.67345	-0.26	4.21	1.09	0.20402	.	0.311338	0.22812	N	0.055323	T	0.48370	0.1496	L	0.34521	1.04	0.09310	N	1	B	0.18310	0.027	B	0.10450	0.005	T	0.37934	-0.9684	10	0.51188	T	0.08	-0.4838	4.6169	0.12432	0.2086:0.1773:0.6141:0.0	.	304	Q6HA08	ASTL_HUMAN	L	304	ENSP00000343674:P304L	ENSP00000343674:P304L	P	-	2	0	ASTL	96153701	0.014000	0.17966	0.001000	0.08648	0.001000	0.01503	1.168000	0.31859	0.475000	0.27415	-0.703000	0.03666	CCG		0.632	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			8	13	0	0	0	0	8	13				
NCAPH	23397	broad.mit.edu	37	2	97024782	97024782	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:97024782G>A	ENST00000240423.4	+	10	1251		c.e10-1		NCAPH_ENST00000427946.1_Splice_Site|NCAPH_ENST00000455200.1_Splice_Site	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GTGTGTTACAGGGAAGAAATG	0.398																																						uc002svz.1		NA																	0				urinary_tract(1)|skin(1)	2						c.e10-1		non-SMC condensin I complex, subunit H							103.0	91.0	96.0					2																	97024782		2203	4300	6503	SO:0001630	splice_region_variant	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97024782G>A	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1209-1G>A	2.37:g.97024782G>A						NCAPH_uc010fhu.1_Splice_Site_p.Q379_splice|NCAPH_uc010fhv.1_Splice_Site_p.Q392_splice|NCAPH_uc010yum.1_Splice_Site_p.Q379_splice|NCAPH_uc010fhw.1_Splice_Site_p.Q392_splice|NCAPH_uc010yun.1_Splice_Site_p.Q267_splice|NCAPH_uc002swa.1_Splice_Site	p.Q403_splice	NM_015341	NP_056156	Q15003	CND2_HUMAN			10	1293	+		Ovarian(717;0.0221)						B4E189|Q8TB87	Splice_Site	SNP	ENST00000240423.4	37	c.1209_splice	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516092	0.44763	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5892	0.87991	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPH	96388509	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	8.595000	0.90840	2.767000	0.95098	0.655000	0.94253	.		0.398	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341	Intron	11	29	0	0	0	0	11	29				
SEMA4C	54910	broad.mit.edu	37	2	97526482	97526482	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:97526482C>T	ENST00000305476.5	-	15	2515	c.2383G>A	c.(2383-2385)Gga>Aga	p.G795R	ANKRD39_ENST00000393537.4_5'Flank	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	795					cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TCCTCCCCTCCTAGTTGTAAG	0.642																																						uc002sxh.3		NA																	0				skin(2)	2						c.(2383-2385)GGA>AGA		semaphorin 4C precursor							88.0	93.0	91.0					2																	97526482		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97526482C>T	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.2383G>A	2.37:g.97526482C>T	ENSP00000306844:p.Gly795Arg					ANKRD39_uc002sxd.3_5'Flank|SEMA4C_uc002sxf.3_Missense_Mutation_p.G295R|SEMA4C_uc002sxe.2_Missense_Mutation_p.G336R|SEMA4C_uc002sxg.3_Missense_Mutation_p.G848R	p.G795R	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN			15	2543	-			795			Cytoplasmic (Potential).		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.2383G>A	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581302	0.65992	.	.	ENSG00000168758	ENST00000305476	T	0.19105	2.17	4.91	4.91	0.64330	.	0.634090	0.15882	N	0.239968	T	0.31104	0.0786	N	0.14661	0.345	0.51767	D	0.999939	D;D;D	0.89917	0.976;0.999;1.0	P;D;D	0.91635	0.484;0.96;0.999	T	0.20605	-1.0270	10	0.66056	D	0.02	.	15.6323	0.76920	0.0:1.0:0.0:0.0	.	795;505;336	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	R	795	ENSP00000306844:G795R	ENSP00000306844:G795R	G	-	1	0	SEMA4C	96890209	0.999000	0.42202	0.964000	0.40570	0.959000	0.62525	4.171000	0.58236	2.552000	0.86080	0.555000	0.69702	GGA		0.642	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		21	111	0	0	0	0	21	111				
TMEM131	23505	broad.mit.edu	37	2	98422128	98422128	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:98422128G>A	ENST00000186436.5	-	20	2322	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	698						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCTGTGAGAAGGAATTCATAA	0.333																																						uc002syh.3		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(2092-2094)TCC>TCT		RW1 protein							94.0	95.0	95.0					2																	98422128		1813	4077	5890	SO:0001819	synonymous_variant	23505					integral to membrane		g.chr2:98422128G>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2094C>T	2.37:g.98422128G>A							p.S698S	NM_015348	NP_056163	Q92545	TM131_HUMAN			20	2323	-			698						Silent	SNP	ENST00000186436.5	37	c.2094C>T	CCDS46368.1																																																																																				0.333	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		36	142	0	0	0	0	36	142				
MAP4K4	9448	broad.mit.edu	37	2	102483019	102483019	+	Silent	SNP	C	C	T	rs376560483		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:102483019C>T	ENST00000347699.4	+	18	2100	c.2100C>T	c.(2098-2100)tcC>tcT	p.S700S	MAP4K4_ENST00000350878.4_Silent_p.S673S|MAP4K4_ENST00000302217.5_Silent_p.S500S|MAP4K4_ENST00000425019.1_Silent_p.S669S|MAP4K4_ENST00000324219.4_Silent_p.S778S|MAP4K4_ENST00000350198.4_Silent_p.S616S|MAP4K4_ENST00000413150.2_Silent_p.S615S|MAP4K4_ENST00000456652.1_Silent_p.S499S	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	700					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGAGTGGCTCCGGGGAACGCT	0.542																																						uc002tbg.2		NA																	0				stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2098-2100)TCC>TCT		mitogen-activated protein kinase kinase kinase		C	,,,,	1,3865		0,1,1932	63.0	70.0	68.0		2100,2079,1845,2010,2010	-6.7	0.9	2		68	0,8278		0,0,4139	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAP4K4	NM_001242559.1,NM_001242560.1,NM_004834.4,NM_145686.3,NM_145687.3	,,,,	0,1,6071	TT,TC,CC		0.0,0.0259,0.0082	,,,,	700/1240,693/1236,615/1166,670/1274,670/1213	102483019	1,12143	1933	4139	6072	SO:0001819	synonymous_variant	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102483019C>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2100C>T	2.37:g.102483019C>T						MAP4K4_uc002tbc.2_Silent_p.S778S|MAP4K4_uc002tbd.2_Silent_p.S670S|MAP4K4_uc002tbe.2_Silent_p.S616S|MAP4K4_uc002tbf.2_Silent_p.S670S|MAP4K4_uc010yvy.1_Silent_p.S693S|MAP4K4_uc002tbh.2_Silent_p.S615S|MAP4K4_uc002tbi.2_Silent_p.S500S|MAP4K4_uc010yvz.1_Silent_p.S673S|MAP4K4_uc002tbk.2_Silent_p.S155S|MAP4K4_uc002tbl.2_5'UTR	p.S700S	NM_145687	NP_663720	O95819	M4K4_HUMAN			18	2155	+			700					O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	c.2100C>T	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423246	0.25639	2.59E-4	0.0	ENSG00000071054	ENST00000421882	.	.	.	5.8	-6.68	0.01778	.	.	.	.	.	T	0.64583	0.2611	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68108	-0.5496	4	.	.	.	.	16.79	0.85586	0.0:0.2206:0.0:0.7794	.	.	.	.	W	517	.	.	R	+	1	2	MAP4K4	101849451	0.016000	0.18221	0.854000	0.33618	0.988000	0.76386	-1.352000	0.02619	-1.232000	0.02554	-0.137000	0.14449	CGG		0.542	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		17	37	0	0	0	0	17	37				
SLC9A4	389015	broad.mit.edu	37	2	103124678	103124678	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:103124678C>T	ENST00000295269.4	+	5	1796	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	447					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTCTCTTTTTCCTAGGAAGAA	0.353																																						uc002tbz.3		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1339-1341)CCT>TCT		solute carrier family 9 (sodium/hydrogen							106.0	95.0	99.0					2																	103124678		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103124678C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1339C>T	2.37:g.103124678C>T	ENSP00000295269:p.Pro447Ser						p.P447S	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			5	1796	+			447			Extracellular (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1339C>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784866	0.70222	.	.	ENSG00000180251	ENST00000295269	T	0.17370	2.28	5.44	5.44	0.79542	Cation/H+ exchanger (1);	0.109437	0.64402	D	0.000007	T	0.30166	0.0756	M	0.66939	2.045	0.37116	D	0.900565	P	0.52577	0.954	P	0.47528	0.549	T	0.14980	-1.0453	10	0.51188	T	0.08	.	19.6207	0.95654	0.0:1.0:0.0:0.0	.	447	Q6AI14	SL9A4_HUMAN	S	447	ENSP00000295269:P447S	ENSP00000295269:P447S	P	+	1	0	SLC9A4	102491110	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.467000	0.45093	2.707000	0.92482	0.563000	0.77884	CCT		0.353	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		11	53	0	0	0	0	11	53				
GPR45	11250	broad.mit.edu	37	2	105859166	105859166	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:105859166C>T	ENST00000258456.1	+	1	967	c.851C>T	c.(850-852)tCc>tTc	p.S284F		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CTGCCCCACTCCGTCTACAGC	0.587																																						uc002tco.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(850-852)TCC>TTC		G protein-coupled receptor 45							179.0	172.0	174.0					2																	105859166		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859166C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.851C>T	2.37:g.105859166C>T	ENSP00000258456:p.Ser284Phe						p.S284F	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	967	+			284			Helical; Name=6; (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.851C>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097972	0.20552	.	.	ENSG00000135973	ENST00000258456	T	0.35605	1.3	4.25	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.219310	0.38217	N	0.001761	T	0.16257	0.0391	N	0.01250	-0.93	0.51482	D	0.999923	B	0.29136	0.234	B	0.34093	0.175	T	0.17440	-1.0369	10	0.16420	T	0.52	-12.2882	16.8011	0.85614	0.0:1.0:0.0:0.0	.	284	Q9Y5Y3	GPR45_HUMAN	F	284	ENSP00000258456:S284F	ENSP00000258456:S284F	S	+	2	0	GPR45	105225598	1.000000	0.71417	0.379000	0.26080	0.320000	0.28249	5.515000	0.67049	2.365000	0.80145	0.462000	0.41574	TCC		0.587	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		44	149	0	0	0	0	44	149				
GPR45	11250	broad.mit.edu	37	2	105859281	105859281	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:105859281C>T	ENST00000258456.1	+	1	1082	c.966C>T	c.(964-966)atC>atT	p.I322I		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCAACCCCATCGTCTACTGCT	0.547																																						uc002tco.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(964-966)ATC>ATT		G protein-coupled receptor 45							108.0	109.0	109.0					2																	105859281		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859281C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.966C>T	2.37:g.105859281C>T							p.I322I	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	1082	+			322			Helical; Name=7; (Potential).		Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.966C>T	CCDS2066.1																																																																																				0.547	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		26	83	0	0	0	0	26	83				
RGPD4	285190	broad.mit.edu	37	2	108455287	108455287	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108455287C>T	ENST00000408999.3	+	4	349	c.272C>T	c.(271-273)cCa>cTa	p.P91L	RGPD4_ENST00000354986.4_Missense_Mutation_p.P91L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	91					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAATTAAACCCAACACAAAAA	0.299																																						uc010ywk.1		NA																	0				skin(2)	2						c.(271-273)CCA>CTA		RANBP2-like and GRIP domain containing 4							43.0	56.0	53.0					2																	108455287		214	768	982	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108455287C>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.272C>T	2.37:g.108455287C>T	ENSP00000386810:p.Pro91Leu					RGPD4_uc002tdu.2_5'UTR	p.P91L	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			4	354	+			91			TPR 1.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.272C>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	c	10.85	1.466714	0.26335	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000445751	T;T	0.81163	-1.46;-1.46	2.48	2.48	0.30137	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	D	0.89223	0.6654	M	0.85945	2.785	0.49130	D	0.999751	D	0.76494	0.999	D	0.91635	0.999	D	0.90358	0.4371	9	0.87932	D	0	-16.8723	11.9025	0.52692	0.0:1.0:0.0:0.0	.	91	Q7Z3J3	RGPD4_HUMAN	L	91;91;34	ENSP00000347081:P91L;ENSP00000386810:P91L	ENSP00000347081:P91L	P	+	2	0	RGPD4	107821719	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	5.115000	0.64655	1.379000	0.46325	0.162000	0.16502	CCA		0.299	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		34	31	0	0	0	0	34	31				
SLC5A7	60482	broad.mit.edu	37	2	108614398	108614398	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108614398G>T	ENST00000264047.2	+	5	829	c.553G>T	c.(553-555)Gcc>Tcc	p.A185S	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A185S|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A80S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	185					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTATTCTGTGGCCTACACTGA	0.453																																						uc002tdv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(553-555)GCC>TCC		solute carrier family 5 (choline transporter),	Choline(DB00122)						239.0	210.0	220.0					2																	108614398		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108614398G>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.553G>T	2.37:g.108614398G>T	ENSP00000264047:p.Ala185Ser					SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.A185S|SLC5A7_uc010ywn.1_Missense_Mutation_p.A72S	p.A185S	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			5	829	+			185			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.553G>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135348	0.94517	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.86956	-2.19;-2.19;-2.19	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.93939	0.8060	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92343	0.5883	10	0.15952	T	0.53	-33.9332	18.5601	0.91097	0.0:0.0:1.0:0.0	.	185	Q9GZV3	SC5A7_HUMAN	S	185;80;185	ENSP00000387346:A185S;ENSP00000445351:A80S;ENSP00000264047:A185S	ENSP00000264047:A185S	A	+	1	0	SLC5A7	107980830	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.869000	0.99810	2.390000	0.81377	0.655000	0.94253	GCC		0.453	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			85	125	1	0	6.88e-45	7.17e-45	85	125				
SLC5A7	60482	broad.mit.edu	37	2	108626920	108626920	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108626920G>A	ENST00000264047.2	+	9	1622	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G449E|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G344E	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	449					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AGAATAACTGGAGGGGAGCCA	0.433																																						uc002tdv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1345-1347)GGA>GAA		solute carrier family 5 (choline transporter),	Choline(DB00122)						100.0	100.0	100.0					2																	108626920		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626920G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1346G>A	2.37:g.108626920G>A	ENSP00000264047:p.Gly449Glu					SLC5A7_uc010ywm.1_Missense_Mutation_p.G202E|SLC5A7_uc010fjj.2_Missense_Mutation_p.G449E|SLC5A7_uc010ywn.1_Missense_Mutation_p.G336E	p.G449E	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			9	1622	+			449			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1346G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098469	0.94197	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.93019	-2.88;-3.15;-2.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.96595	0.9440	10	0.51188	T	0.08	-16.3567	20.4024	0.99000	0.0:0.0:1.0:0.0	.	449	Q9GZV3	SC5A7_HUMAN	E	449;344;449	ENSP00000387346:G449E;ENSP00000445351:G344E;ENSP00000264047:G449E	ENSP00000264047:G449E	G	+	2	0	SLC5A7	107993352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.827000	0.97445	0.650000	0.86243	GGA		0.433	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			22	59	0	0	0	0	22	59				
SULT1C2	6819	broad.mit.edu	37	2	108917299	108917299	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108917299G>A	ENST00000437390.2	+	4	502	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000326853.5_Intron|SULT1C2_ENST00000251481.6_Missense_Mutation_p.E95K			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	101					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.E95K(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TAAAGGTGTGGAAAAAGCCAA	0.488																																						uc002tdy.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(1)	1						c.(283-285)GAA>AAA		sulfotransferase family, cytosolic, 1C, member 1							140.0	160.0	153.0					2																	108917299		2203	4300	6503	SO:0001583	missense	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108917299G>A	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.325G>A	2.37:g.108917299G>A	ENSP00000399651:p.Glu109Lys					SULT1C2_uc010ywp.1_Intron|SULT1C2_uc002tdx.2_Intron|SULT1C2_uc010ywq.1_Missense_Mutation_p.E109K	p.E95K	NM_001056	NP_001047	O00338	ST1C2_HUMAN			4	736	+			95					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37	c.283G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.319316|2.319316	0.41096|0.41096	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000251481;ENST00000437390|ENST00000409067	T;T|.	0.01947|.	4.54;4.54|.	4.31|4.31	4.31|4.31	0.51392|0.51392	Sulfotransferase domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.45518|0.45518	0.1346|0.1346	L|L	0.33189|0.33189	0.99|0.99	0.41835|0.41835	D|D	0.990091|0.990091	B;B|.	0.20780|.	0.019;0.048|.	B;B|.	0.21360|.	0.021;0.034|.	T|T	0.34153|0.34153	-0.9840|-0.9840	9|5	0.36615|.	T|.	0.2|.	.|.	7.5811|7.5811	0.27965|0.27965	0.0929:0.1684:0.7387:0.0|0.0929:0.1684:0.7387:0.0	.|.	109;95|.	B4DLP0;O00338|.	.;ST1C2_HUMAN|.	K|E	95;109|91	ENSP00000251481:E95K;ENSP00000399651:E109K|.	ENSP00000251481:E95K|.	E|G	+|+	1|2	0|0	SULT1C2|SULT1C2	108283731|108283731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.146000|3.146000	0.50631|0.50631	2.225000|2.225000	0.72522|0.72522	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.488	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		42	69	0	0	0	0	42	69				
ACOXL	55289	broad.mit.edu	37	2	111851062	111851062	+	Splice_Site	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:111851062A>C	ENST00000389811.4	+	19	1856		c.e19-1		ACOXL_ENST00000439055.1_Intron			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like						fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TCCTTTCTGCAGGAGAGATGC	0.398																																						uc002tgr.3		NA																	0					0						c.e19-2		acyl-Coenzyme A oxidase-like 2							107.0	92.0	97.0					2																	111851062		2203	4300	6503	SO:0001630	splice_region_variant	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111851062A>C		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.1633-1A>C	2.37:g.111851062A>C						ACOXL_uc010fkc.2_Splice_Site_p.E515_splice|ACOXL_uc010yxk.1_Intron	p.E545_splice	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN			19	1857	+								A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Splice_Site	SNP	ENST00000389811.4	37	c.1633_splice		.	.	.	.	.	.	.	.	.	.	A	4.175	0.031036	0.08101	.	.	ENSG00000153093	ENST00000389811;ENST00000417074	.	.	.	3.24	-0.739	0.11120	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3721	0.04333	0.5375:0.0:0.2506:0.2119	.	.	.	.	.	-1	.	.	.	+	.	.	ACOXL	111567533	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.317000	0.19487	-0.129000	0.11620	0.482000	0.46254	.		0.398	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308	Intron	11	21	0	0	0	0	11	21				
MYO7B	4648	broad.mit.edu	37	2	128366402	128366402	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:128366402C>T	ENST00000409816.2	+	21	2795	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	MYO7B_ENST00000389524.4_Silent_p.F921F|MYO7B_ENST00000428314.1_Silent_p.F921F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	921						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGTTCGGCTTCCTCCCTGCCA	0.627																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2761-2763)TTC>TTT		myosin VIIB							33.0	40.0	38.0					2																	128366402		2093	4202	6295	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128366402C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2763C>T	2.37:g.128366402C>T							p.F921F	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	22	2816	+	Colorectal(110;0.1)		921					Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.2763C>T	CCDS46405.1																																																																																				0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		16	11	0	0	0	0	16	11				
AMER3	205147	broad.mit.edu	37	2	131521446	131521446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:131521446C>T	ENST00000423981.1	+	2	1911	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.R601*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	601					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GGATGCCTCTCGAGAGGAAGA	0.597																																						uc002trw.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1801-1803)CGA>TGA		hypothetical protein LOC205147							67.0	72.0	71.0					2																	131521446		2203	4300	6503	SO:0001587	stop_gained	205147							g.chr2:131521446C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1801C>T	2.37:g.131521446C>T	ENSP00000392700:p.Arg601*					FAM123C_uc010fmv.2_Nonsense_Mutation_p.R601*|FAM123C_uc010fms.1_Nonsense_Mutation_p.R601*|FAM123C_uc010fmt.1_Nonsense_Mutation_p.R601*|FAM123C_uc010fmu.1_Nonsense_Mutation_p.R601*	p.R601*	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1991	+	Colorectal(110;0.1)		601					B7ZLH6	Nonsense_Mutation	SNP	ENST00000423981.1	37	c.1801C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	37	6.177453	0.97352	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	.	.	.	4.7	0.621	0.17643	.	1.718310	0.04032	N	0.301704	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	3.3981	0.07313	0.1803:0.5185:0.0:0.3013	.	.	.	.	X	601	.	ENSP00000314914:R601X	R	+	1	2	FAM123C	131237916	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.348000	0.07740	0.118000	0.18165	0.561000	0.74099	CGA		0.597	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		20	65	0	0	0	0	20	65				
ACMSD	130013	broad.mit.edu	37	2	135659396	135659396	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:135659396C>A	ENST00000356140.5	+	10	1113	c.977C>A	c.(976-978)gCa>gAa	p.A326E	AC016725.4_ENST00000537615.1_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.A268E|AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Missense_Mutation_p.A268E|AC016725.4_ENST00000413962.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	326					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AATGCCCTGGCATTTTTGGGT	0.294																																						uc002ttz.2		NA																	0				skin(1)	1						c.(976-978)GCA>GAA		aminocarboxymuconate semialdehyde decarboxylase							44.0	47.0	46.0					2																	135659396		2201	4295	6496	SO:0001583	missense	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135659396C>A	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.977C>A	2.37:g.135659396C>A	ENSP00000348459:p.Ala326Glu					ACMSD_uc002tua.2_Missense_Mutation_p.A268E|uc010zbe.1_Intron	p.A326E	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	10	1044	+			326					Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	ENST00000356140.5	37	c.977C>A	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	C	2.135	-0.398121	0.04865	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.93	3.06	0.35304	.	0.478610	0.25587	N	0.029646	T	0.17959	0.0431	N	0.01640	-0.785	0.26137	N	0.980333	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.003	T	0.12528	-1.0544	9	0.15952	T	0.53	0.0657	15.9817	0.80114	0.626:0.374:0.0:0.0	.	268;326	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	E	326;268;268	.	ENSP00000283054:A268E	A	+	2	0	ACMSD	135375866	0.993000	0.37304	0.934000	0.37439	0.961000	0.63080	0.102000	0.15272	0.338000	0.23692	-0.274000	0.10170	GCA		0.294	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			17	51	1	0	6.33e-15	6.55e-15	17	51				
R3HDM1	23518	broad.mit.edu	37	2	136396634	136396635	+	Silent	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:136396634_136396635CC>TT	ENST00000264160.4	+	14	1531_1532	c.1161_1162CC>TT	c.(1159-1164)gtCCtg>gtTTtg	p.387_388VL>VL	R3HDM1_ENST00000409606.1_Silent_p.387_388VL>VL|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000409478.1_Silent_p.343_344VL>VL|R3HDM1_ENST00000329971.3_Silent_p.343_344VL>VL|R3HDM1_ENST00000410054.1_Silent_p.331_332VL>VL	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	387							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GAATCTCAGTCCTGACAAGAGG	0.455																																						uc002tuo.2		NA																	0				skin(1)	1						c.(1159-1164)GTCCTG>GTTTTG		R3H domain containing 1																																				SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136396634_136396635CC>TT	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	Exception_encountered	2.37:g.136396634_136396635delinsTT						R3HDM1_uc010fni.2_Silent_p.385_386VL>VL|R3HDM1_uc002tup.2_Silent_p.331_332VL>VL|R3HDM1_uc010zbh.1_Silent_p.219_220VL>VL	p.387_388VL>VL	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	14	1531_1532	+			387_388					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	DNP	ENST00000264160.4	37	c.1161_1162CC>TT	CCDS2177.1																																																																																				0.455	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		34	103	0	0	0	0	34	103				
DARS	1615	broad.mit.edu	37	2	136681972	136681972	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:136681972G>A	ENST00000264161.4	-	8	876	c.661C>T	c.(661-663)Cct>Tct	p.P221S	DARS_ENST00000537273.1_Missense_Mutation_p.P121S	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	221					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATAATTTTAGGAGTTTGGATT	0.328																																						uc002tux.1		NA																	0				ovary(1)	1						c.(661-663)CCT>TCT		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						41.0	44.0	43.0					2																	136681972		2195	4297	6492	SO:0001583	missense	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136681972G>A	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.661C>T	2.37:g.136681972G>A	ENSP00000264161:p.Pro221Ser					DARS_uc010fnj.1_Missense_Mutation_p.P121S	p.P221S	NM_001349	NP_001340	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	8	845	-			221					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	c.661C>T	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132586	0.94473	.	.	ENSG00000115866	ENST00000264161;ENST00000537273	D;D	0.84660	-1.88;-1.88	5.84	5.84	0.93424	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.102844	0.64402	D	0.000002	D	0.95392	0.8504	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96174	0.9125	10	0.87932	D	0	-10.5088	20.1454	0.98074	0.0:0.0:1.0:0.0	.	221	P14868	SYDC_HUMAN	S	221;121	ENSP00000264161:P221S;ENSP00000444192:P121S	ENSP00000264161:P221S	P	-	1	0	DARS	136398442	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.748000	0.94277	0.650000	0.86243	CCT		0.328	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		3	31	0	0	0	0	3	31				
THSD7B	80731	broad.mit.edu	37	2	137872796	137872796	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:137872796G>A	ENST00000409968.1	+	5	1480	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.G434G|THSD7B_ENST00000413152.2_Silent_p.G403G			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	434	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGCGGTGGGATCCAGACCC	0.602																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1207-1209)GGG>GGA		thrombospondin, type I, domain containing 7B							44.0	49.0	47.0					2																	137872796		1983	4163	6146	SO:0001819	synonymous_variant	80731							g.chr2:137872796G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1302G>A	2.37:g.137872796G>A						THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.G293G	p.G403G	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	4	1209	+									Silent	SNP	ENST00000409968.1	37	c.1209G>A																																																																																					0.602	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		13	20	0	0	0	0	13	20				
LRP1B	53353	broad.mit.edu	37	2	141274580	141274580	+	Splice_Site	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:141274580A>G	ENST00000389484.3	-	50	8998	c.8027T>C	c.(8026-8028)gTt>gCt	p.V2676A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2676					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)		TTTGTTTTGAACTGTGATAAA	0.299										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.(8026-8028)GTT>GCT		low density lipoprotein-related protein 1B							95.0	90.0	92.0					2																	141274580		2202	4300	6502	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141274580A>G	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.8027-1T>C	2.37:g.141274580A>G		TSP Lung(27;0.18)					p.V2676A	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)	50	8999	-		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)	2676			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8027T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.726873	0.30593	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90197	-2.63	5.25	5.25	0.73442	.	0.000000	0.64402	U	0.000003	T	0.77525	0.4143	N	0.08118	0	0.48087	D	0.999581	B	0.11235	0.004	B	0.12156	0.007	T	0.70894	-0.4748	10	0.08381	T	0.77	.	9.6527	0.39908	0.9217:0.0:0.0783:0.0	.	2676	Q9NZR2	LRP1B_HUMAN	A	2676;2614	ENSP00000374135:V2676A	ENSP00000374135:V2676A	V	-	2	0	LRP1B	140991050	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.374000	0.59543	1.969000	0.57287	0.460000	0.39030	GTT		0.299	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	11	25	0	0	0	0	11	25				
LRP1B	53353	broad.mit.edu	37	2	141294269	141294269	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:141294269G>A	ENST00000389484.3	-	46	8494	c.7523C>T	c.(7522-7524)tCc>tTc	p.S2508F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2508					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)		GTTGCAGGAGGAATTTTTAGC	0.328										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.(7522-7524)TCC>TTC		low density lipoprotein-related protein 1B							62.0	60.0	60.0					2																	141294269		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141294269G>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.7523C>T	2.37:g.141294269G>A	ENSP00000374135:p.Ser2508Phe	TSP Lung(27;0.18)					p.S2508F	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)	46	8495	-		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)	2508			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7523C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862436	0.71949	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90444	-2.67	5.3	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	L	0.61036	1.89	0.58432	D	0.999999	B	0.06786	0.001	B	0.12156	0.007	D	0.84804	0.0786	10	0.51188	T	0.08	.	11.3262	0.49450	0.1472:0.0:0.8528:0.0	.	2508	Q9NZR2	LRP1B_HUMAN	F	2508;2446	ENSP00000374135:S2508F	ENSP00000374135:S2508F	S	-	2	0	LRP1B	141010739	1.000000	0.71417	0.996000	0.52242	0.827000	0.46813	3.983000	0.56916	1.247000	0.43917	0.650000	0.86243	TCC		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		15	15	0	0	0	0	15	15				
LRP1B	53353	broad.mit.edu	37	2	141751606	141751606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:141751606C>T	ENST00000389484.3	-	16	3573	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	868	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGCAGTCATCGTCGCCATCA	0.438										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.(2602-2604)GAT>AAT		low density lipoprotein-related protein 1B							131.0	124.0	126.0					2																	141751606		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141751606C>T	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.2602G>A	2.37:g.141751606C>T	ENSP00000374135:p.Asp868Asn	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.D868N	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)	16	3574	-		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)	868			Extracellular (Potential).|LDL-receptor class A 3.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2602G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431946	0.43122	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95377	-3.69	5.8	5.8	0.92144	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.91603	0.7347	L	0.31120	0.905	0.51012	D	0.999909	B	0.29481	0.245	B	0.30782	0.12	D	0.88425	0.3031	10	0.06625	T	0.88	.	20.062	0.97678	0.0:1.0:0.0:0.0	.	868	Q9NZR2	LRP1B_HUMAN	N	868;806	ENSP00000374135:D868N	ENSP00000374135:D868N	D	-	1	0	LRP1B	141468076	0.983000	0.35010	0.970000	0.41538	0.161000	0.22273	2.618000	0.46393	2.730000	0.93505	0.563000	0.77884	GAT		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		15	89	0	0	0	0	15	89				
LYPD6B	130576	broad.mit.edu	37	2	150071213	150071213	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:150071213C>T	ENST00000409029.1	+	7	743	c.541C>T	c.(541-543)Cca>Tca	p.P181S	LYPD6B_ENST00000409642.3_Missense_Mutation_p.P205S|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.P181S|LYPD6B_ENST00000280115.7_Missense_Mutation_p.P205S			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	181						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CTTTGTGCTTCCATTGCTGTG	0.507																																						uc002twv.1		NA																	0					0						c.(613-615)CCA>TCA		LY6/PLAUR domain containing 6B							172.0	173.0	173.0					2																	150071213		2065	4203	6268	SO:0001583	missense	130576					anchored to membrane|plasma membrane		g.chr2:150071213C>T		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.541C>T	2.37:g.150071213C>T	ENSP00000386650:p.Pro181Ser					LYPD6B_uc002tww.1_Missense_Mutation_p.P167S|LYPD6B_uc002twx.1_Missense_Mutation_p.P167S	p.P205S	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN			7	1014	+			181					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37	c.613C>T		.	.	.	.	.	.	.	.	.	.	C	16.53	3.148825	0.57151	.	.	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.78	5.78	0.91487	.	0.360320	0.24705	N	0.036274	T	0.14184	0.0343	L	0.36672	1.1	0.09310	N	1	B;P	0.35272	0.027;0.493	B;B	0.35971	0.022;0.215	T	0.16748	-1.0392	9	.	.	.	-27.8268	17.5062	0.87746	0.0:1.0:0.0:0.0	.	181;205	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	S	205;181;181;205	ENSP00000387077:P205S;ENSP00000386479:P181S;ENSP00000386650:P181S;ENSP00000280115:P205S	.	P	+	1	0	LYPD6B	149779459	0.000000	0.05858	0.051000	0.19133	0.766000	0.43426	0.885000	0.28227	2.749000	0.94314	0.655000	0.94253	CCA		0.507	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		39	134	0	0	0	0	39	134				
RIF1	55183	broad.mit.edu	37	2	152320883	152320883	+	Missense_Mutation	SNP	C	C	T	rs556995982	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:152320883C>T	ENST00000243326.5	+	29	5332	c.4849C>T	c.(4849-4851)Ccg>Tcg	p.P1617S	RIF1_ENST00000444746.2_Missense_Mutation_p.P1617S|RIF1_ENST00000428287.2_Missense_Mutation_p.P1617S|RIF1_ENST00000453091.2_Missense_Mutation_p.P1617S|RIF1_ENST00000430328.2_Missense_Mutation_p.P1617S			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CATAAAATCTCCGATTTGCGA	0.333																																						uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(4849-4851)CCG>TCG		RAP1 interacting factor 1							50.0	50.0	50.0					2																	152320883		2203	4299	6502	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320883C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4849C>T	2.37:g.152320883C>T	ENSP00000243326:p.Pro1617Ser					RIF1_uc002txl.2_Missense_Mutation_p.P1617S|RIF1_uc002txn.2_Missense_Mutation_p.P1617S|RIF1_uc002txo.2_Missense_Mutation_p.P1617S|RIF1_uc002txp.2_RNA	p.P1617S	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	4979	+			1617					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.4849C>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	0.516	-0.864395	0.02590	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.51	3.59	0.41128	.	1.013680	0.07884	N	0.970045	T	0.04634	0.0126	N	0.08118	0	0.22401	N	0.999135	B;B	0.18461	0.002;0.028	B;B	0.15484	0.003;0.013	T	0.39396	-0.9616	10	0.11182	T	0.66	-0.1693	9.4029	0.38444	0.1419:0.591:0.2671:0.0	.	1617;1617	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	S	1617	ENSP00000390181:P1617S;ENSP00000414615:P1617S;ENSP00000415691:P1617S;ENSP00000243326:P1617S;ENSP00000416123:P1617S	ENSP00000243326:P1617S	P	+	1	0	RIF1	152029129	0.833000	0.29383	0.081000	0.20488	0.046000	0.14306	1.471000	0.35365	1.257000	0.44085	0.557000	0.71058	CCG		0.333	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			6	24	0	0	0	0	6	24				
NEB	4703	broad.mit.edu	37	2	152534436	152534436	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:152534436G>A	ENST00000172853.10	-	33	3668	c.3521C>T	c.(3520-3522)gCc>gTc	p.A1174V	NEB_ENST00000427231.2_Missense_Mutation_p.A1174V|NEB_ENST00000409198.1_Missense_Mutation_p.A1174V|NEB_ENST00000397345.3_Missense_Mutation_p.A1174V|NEB_ENST00000603639.1_Missense_Mutation_p.A1174V|NEB_ENST00000604864.1_Missense_Mutation_p.A1174V			P20929	NEBU_HUMAN	nebulin	1174					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGGTCCATGGCGTCAGGCAA	0.453																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(3520-3522)GCC>GTC		nebulin isoform 3							102.0	102.0	102.0					2																	152534436		2023	4176	6199	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152534436G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3521C>T	2.37:g.152534436G>A	ENSP00000172853:p.Ala1174Val						p.A1174V	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	33	3712	-			1174			Nebulin 29.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.3521C>T		.	.	.	.	.	.	.	.	.	.	G	18.75	3.691348	0.68271	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.29	5.29	0.74685	.	0.185270	0.46758	D	0.000263	T	0.66992	0.2846	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.63125	-0.6707	10	0.21540	T	0.41	.	14.8714	0.70459	0.0:0.0:0.8559:0.1441	.	1174	P20929	NEBU_HUMAN	V	1174	ENSP00000386259:A1174V;ENSP00000380505:A1174V;ENSP00000416578:A1174V;ENSP00000172853:A1174V	ENSP00000172853:A1174V	A	-	2	0	NEB	152242682	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	4.050000	0.57404	2.640000	0.89533	0.655000	0.94253	GCC		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		13	52	0	0	0	0	13	52				
BAZ2B	29994	broad.mit.edu	37	2	160206292	160206292	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:160206292G>A	ENST00000392783.2	-	28	5285	c.4790C>T	c.(4789-4791)cCt>cTt	p.P1597L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1561L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1563L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1497L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1597					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGCTGGGGTAGGTGAAGGTGA	0.458																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(4789-4791)CCT>CTT		bromodomain adjacent to zinc finger domain, 2B							117.0	115.0	116.0					2																	160206292		2048	4202	6250	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160206292G>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4790C>T	2.37:g.160206292G>A	ENSP00000376534:p.Pro1597Leu					BAZ2B_uc002uap.2_Missense_Mutation_p.P1561L	p.P1597L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			28	5142	-			1597					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.4790C>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714562	0.30413	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.58060	0.41;0.42;0.41;0.36	6.06	6.06	0.98353	.	0.000000	0.36854	U	0.002371	T	0.70245	0.3202	M	0.67953	2.075	0.58432	D	0.999995	B;D	0.71674	0.2;0.998	B;P	0.59546	0.051;0.859	T	0.70506	-0.4853	10	0.72032	D	0.01	-11.5792	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1561;1597	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	L	1561;1597;1563;1497	ENSP00000376533:P1561L;ENSP00000376534:P1597L;ENSP00000348087:P1563L;ENSP00000339670:P1497L	ENSP00000339670:P1497L	P	-	2	0	BAZ2B	159914538	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.434000	0.73408	2.882000	0.98803	0.655000	0.94253	CCT		0.458	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			9	41	0	0	0	0	9	41				
FIGN	55137	broad.mit.edu	37	2	164466247	164466247	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:164466247C>T	ENST00000333129.3	-	3	2409	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	699					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACCACTGCTTCCTGACACAAA	0.517																																						uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(2095-2097)GAA>AAA		fidgetin							56.0	59.0	58.0					2																	164466247		2013	4182	6195	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466247C>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.2095G>A	2.37:g.164466247C>T	ENSP00000333836:p.Glu699Lys						p.E699K	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	2406	-			699					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.2095G>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176761	0.57692	.	.	ENSG00000182263	ENST00000333129	D	0.98602	-5.02	5.89	5.89	0.94794	.	0.049671	0.85682	D	0.000000	D	0.98950	0.9643	M	0.92026	3.265	0.80722	D	1	P	0.38800	0.648	P	0.50082	0.63	D	0.99445	1.0939	10	0.72032	D	0.01	-23.9236	20.2527	0.98410	0.0:1.0:0.0:0.0	.	699	Q5HY92	FIGN_HUMAN	K	699	ENSP00000333836:E699K	ENSP00000333836:E699K	E	-	1	0	FIGN	164174493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.020000	0.57189	2.788000	0.95919	0.557000	0.71058	GAA		0.517	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		19	34	0	0	0	0	19	34				
SCN1A	6323	broad.mit.edu	37	2	166866245	166866245	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:166866245C>T	ENST00000303395.4	-	20	3985	c.3986G>A	c.(3985-3987)cGa>cAa	p.R1329Q	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1318Q|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1301Q|SCN1A_ENST00000423058.2_Missense_Mutation_p.R1329Q			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1329					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R1318Q(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCTTCAAATCGAGATAAGGC	0.363																																						uc010zcz.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(6)|skin(6)|large_intestine(1)	13						c.(3952-3954)CGA>CAA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						78.0	78.0	78.0					2																	166866245		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166866245C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3986G>A	2.37:g.166866245C>T	ENSP00000303540:p.Arg1329Gln					SCN1A_uc002udo.3_Missense_Mutation_p.R1198Q|SCN1A_uc010fpk.2_Missense_Mutation_p.R1170Q	p.R1318Q	NM_006920	NP_008851	P35498	SCN1A_HUMAN			20	3971	-			1329			Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3953G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228151	0.95173	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11	5.46	5.46	0.80206	Ion transport (1);	0.121611	0.37304	N	0.002141	D	0.99032	0.9669	M	0.72479	2.2	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.93;0.997;1.0	D	0.99895	1.1144	10	0.87932	D	0	.	19.3188	0.94229	0.0:1.0:0.0:0.0	.	1318;1301;1329	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Q	1329;1329;1318;1301	ENSP00000407030:R1329Q;ENSP00000303540:R1329Q;ENSP00000364554:R1318Q;ENSP00000386312:R1301Q	ENSP00000303540:R1329Q	R	-	2	0	SCN1A	166574491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.621000	0.83083	2.569000	0.86673	0.650000	0.86243	CGA		0.363	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		31	32	0	0	0	0	31	32				
SCN7A	6332	broad.mit.edu	37	2	167298178	167298179	+	Missense_Mutation	DNP	CT	CT	TC			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:167298178_167298179CT>TC	ENST00000409855.1	-	14	2010_2011	c.1884_1885AG>GA	c.(1882-1887)aaAGac>aaGAac	p.D629N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	629					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D629Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AGGACCAAGTCTTTCAGGGCCA	0.386																																						uc002udu.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(1)	1						c.(1882-1887)AAAGAC>AAGAAC		sodium channel, voltage-gated, type VII, alpha																																				SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167298178_167298179CT>TC	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1884_1885delinsTC	2.37:g.167298178_167298179delinsTC	ENSP00000386796:p.Asp629Asn					SCN7A_uc010fpm.1_RNA	p.D629N	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			14	2011_2012	-			629						Missense_Mutation	DNP	ENST00000409855.1	37	c.1884_1885AG>GA	CCDS46442.1																																																																																				0.386	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			43	46	0	0	0	0	43	46				
XIRP2	129446	broad.mit.edu	37	2	168105505	168105505	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:168105505C>T	ENST00000409195.1	+	9	7692	c.7603C>T	c.(7603-7605)Cct>Tct	p.P2535S	XIRP2_ENST00000295237.9_Missense_Mutation_p.P2535S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2313S|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2360					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAATCCAAAACCTTATATGAG	0.338																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(7603-7605)CCT>TCT		xin actin-binding repeat containing 2 isoform 1							87.0	85.0	86.0					2																	168105505		1801	4066	5867	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105505C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7603C>T	2.37:g.168105505C>T	ENSP00000386840:p.Pro2535Ser					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P2360S|XIRP2_uc010fpq.2_Missense_Mutation_p.P2313S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.P2535S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7621	+			2360					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7603C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	c	12.67	2.008335	0.35415	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02890	4.12;4.12;4.12	5.97	5.1	0.69264	.	0.174285	0.50627	D	0.000112	T	0.10121	0.0248	M	0.67953	2.075	0.38379	D	0.945078	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.65323	0.814;0.91;0.934	T	0.38090	-0.9677	10	0.18276	T	0.48	-11.2973	11.326	0.49448	0.1429:0.7197:0.1374:0.0	.	2360;2360;2313	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2535;2535;2313	ENSP00000386840:P2535S;ENSP00000295237:P2535S;ENSP00000387255:P2313S	ENSP00000295237:P2535S	P	+	1	0	XIRP2	167813751	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.911000	0.39937	1.545000	0.49373	-0.121000	0.15023	CCT		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		47	83	0	0	0	0	47	83				
ABCB11	8647	broad.mit.edu	37	2	169783744	169783744	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:169783744G>A	ENST00000263817.6	-	26	3664	c.3540C>T	c.(3538-3540)acC>acT	p.T1180T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1180	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GAATTTCTTTGGTGTTGTCTC	0.443																																						uc002ueo.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(3538-3540)ACC>ACT		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						201.0	190.0	194.0					2																	169783744		1898	4119	6017	SO:0001819	synonymous_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169783744G>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3540C>T	2.37:g.169783744G>A						ABCB11_uc010zda.1_Silent_p.T598T|ABCB11_uc010zdb.1_Silent_p.T656T	p.T1180T	NM_003742	NP_003733	O95342	ABCBB_HUMAN			26	3666	-			1180			Cytoplasmic (Potential).|ABC transporter 2.		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.3540C>T	CCDS46444.1																																																																																				0.443	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		58	104	0	0	0	0	58	104				
ABCB11	8647	broad.mit.edu	37	2	169824937	169824937	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:169824937C>T	ENST00000263817.6	-	17	2199	c.2075G>A	c.(2074-2076)aGg>aAg	p.R692K		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	692					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTGAGCTTACCTTAAACTATC	0.423																																						uc002ueo.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(2074-2076)AGG>AAG		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						97.0	90.0	92.0					2																	169824937		1881	4122	6003	SO:0001630	splice_region_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169824937C>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2075+1G>A	2.37:g.169824937C>T						ABCB11_uc010zda.1_Missense_Mutation_p.R134K|ABCB11_uc010zdb.1_Missense_Mutation_p.R168K	p.R692K	NM_003742	NP_003733	O95342	ABCBB_HUMAN			17	2201	-			692			Cytoplasmic (Potential).		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2075G>A	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607603	0.66558	.	.	ENSG00000073734	ENST00000263817	D	0.86497	-2.13	5.46	5.46	0.80206	.	9.279080	0.00166	N	0.000000	D	0.84938	0.5583	N	0.21373	0.66	0.80722	D	1	P;P	0.37423	0.594;0.594	B;B	0.39185	0.164;0.293	T	0.63431	-0.6639	9	.	.	.	.	17.08	0.86596	0.0:1.0:0.0:0.0	.	134;692	B4DZQ8;O95342	.;ABCBB_HUMAN	K	692	ENSP00000263817:R692K	.	R	-	2	0	ABCB11	169533183	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.658000	0.68003	2.548000	0.85928	0.650000	0.86243	AGG		0.423	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	Missense_Mutation	6	16	0	0	0	0	6	16				
LRP2	4036	broad.mit.edu	37	2	170038707	170038707	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:170038707G>A	ENST00000263816.3	-	51	10253	c.9968C>T	c.(9967-9969)cCc>cTc	p.P3323L	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3323					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AAGTCCTCTGGGATTATCAAA	0.537																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9967-9969)CCC>CTC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						178.0	160.0	166.0					2																	170038707		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170038707G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9968C>T	2.37:g.170038707G>A	ENSP00000263816:p.Pro3323Leu						p.P3323L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	51	10181	-			3323			LDL-receptor class B 31.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9968C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647627	0.87958	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.99519	-6.07	5.81	5.81	0.92471	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99600	0.9855	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98419	1.0576	10	0.87932	D	0	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	3323	P98164	LRP2_HUMAN	L	3323;18	ENSP00000263816:P3323L	ENSP00000263816:P3323L	P	-	2	0	LRP2	169746953	1.000000	0.71417	0.999000	0.59377	0.556000	0.35491	9.430000	0.97488	2.738000	0.93877	0.655000	0.94253	CCC		0.537	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		34	64	0	0	0	0	34	64				
ATF2	1386	broad.mit.edu	37	2	175962174	175962174	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:175962174G>A	ENST00000264110.2	-	11	1274	c.976C>T	c.(976-978)Ccg>Tcg	p.P326S	ATF2_ENST00000538946.1_Missense_Mutation_p.P308S|ATF2_ENST00000426833.3_Missense_Mutation_p.P308S|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392544.1_Missense_Mutation_p.P326S|ATF2_ENST00000409635.1_Missense_Mutation_p.P268S|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Missense_Mutation_p.P210S|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Missense_Mutation_p.P268S	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	326					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	ACACATACCGGAGTTTCTGTA	0.403																																					Pancreas(17;87 705 4534 15538 30988)	uc002ujl.2		NA																	0				lung(1)|breast(1)|pancreas(1)	3						c.(976-978)CCG>TCG		activating transcription factor 2							133.0	121.0	125.0					2																	175962174		2203	4300	6503	SO:0001583	missense	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175962174G>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.976C>T	2.37:g.175962174G>A	ENSP00000264110:p.Pro326Ser					ATF2_uc010fqv.2_Missense_Mutation_p.P277S|ATF2_uc002ujv.2_Missense_Mutation_p.P73S|ATF2_uc002ujm.2_Missense_Mutation_p.P268S|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.P326S|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Missense_Mutation_p.P308S|ATF2_uc002ujs.2_Missense_Mutation_p.P268S|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Missense_Mutation_p.P268S|ATF2_uc002ujx.1_RNA	p.P326S	NM_001880	NP_001871	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		11	1238	-			326					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.976C>T	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770382	0.69992	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	T;T;T;T;T;T;T	0.79247	-1.24;0.32;-0.65;0.32;-1.24;-1.25;-0.7	5.81	5.81	0.92471	.	0.112655	0.64402	D	0.000010	T	0.74122	0.3675	L	0.58101	1.795	0.80722	D	1	P;P;B;B	0.43750	0.816;0.608;0.034;0.094	B;B;B;B	0.35859	0.212;0.098;0.028;0.01	T	0.73541	-0.3950	10	0.29301	T	0.29	-9.0388	20.0758	0.97742	0.0:0.0:1.0:0.0	.	308;303;268;326	A4D7U4;B3KY57;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	S	326;268;303;210;268;326;308;308	ENSP00000264110:P326S;ENSP00000340576:P268S;ENSP00000386326:P210S;ENSP00000387093:P268S;ENSP00000376327:P326S;ENSP00000407911:P308S;ENSP00000437952:P308S	ENSP00000264110:P326S	P	-	1	0	ATF2	175670420	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.982000	0.93471	2.763000	0.94921	0.650000	0.86243	CCG		0.403	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		17	84	0	0	0	0	17	84				
HOXD3	3232	broad.mit.edu	37	2	177033899	177033899	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:177033899G>A	ENST00000468418.3	+	3	2147	c.57G>A	c.(55-57)aaG>aaA	p.K19K	HOXD3_ENST00000410016.1_Silent_p.K19K|HOXD3_ENST00000249440.3_Silent_p.K19K			P31249	HXD3_HUMAN	homeobox D3	19					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CAATGCAGAAGGCTGCTTACT	0.537																																						uc002ukt.1		NA																	0					0						c.(55-57)AAG>AAA		homeobox D3							105.0	102.0	103.0					2																	177033899		2203	4300	6503	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177033899G>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.57G>A	2.37:g.177033899G>A							p.K19K	NM_006898	NP_008829	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	2	233	+			19					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.57G>A	CCDS2270.1																																																																																				0.537	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			17	66	0	0	0	0	17	66				
TTC30A	92104	broad.mit.edu	37	2	178482974	178482974	+	Missense_Mutation	SNP	A	A	C	rs182464106	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:178482974A>C	ENST00000355689.5	-	1	720	c.456T>G	c.(454-456)aaT>aaG	p.N152K	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	152					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATCGGTCTCATTGTCGCCTC	0.577																																						uc002ulo.2		NA																	0					0						c.(454-456)AAT>AAG		tetratricopeptide repeat domain 30A							135.0	136.0	136.0					2																	178482974		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482974A>C	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.456T>G	2.37:g.178482974A>C	ENSP00000347915:p.Asn152Lys						p.N152K	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	721	-			152					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.456T>G	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	A	3.022	-0.201572	0.06219	.	.	ENSG00000197557	ENST00000355689	T	0.77750	-1.12	5.78	-6.69	0.01772	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.502208	0.23714	N	0.045287	T	0.49098	0.1537	N	0.08118	0	0.19775	N	0.999958	B	0.14012	0.009	B	0.15484	0.013	T	0.26121	-1.0112	10	0.62326	D	0.03	.	6.5714	0.22541	0.1675:0.1768:0.5678:0.088	.	152	Q86WT1	TT30A_HUMAN	K	152	ENSP00000347915:N152K	ENSP00000347915:N152K	N	-	3	2	TTC30A	178191220	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	-1.011000	0.03652	-1.409000	0.02038	-0.396000	0.06452	AAT		0.577	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		31	115	0	0	0	0	31	115				
TTN	7273	broad.mit.edu	37	2	179439624	179439624	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179439624G>A	ENST00000591111.1	-	276	66536	c.66312C>T	c.(66310-66312)acC>acT	p.T22104T	RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Silent_p.T23745T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.T21177T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.T14805T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.T14872T|TTN_ENST00000460472.2_Silent_p.T14680T|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22104	Fibronectin type-III 60. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CCCAAGAGAAGGTTACAAAAT	0.453																																						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.(63529-63531)ACC>ACT		titin isoform N2-A							56.0	53.0	54.0					2																	179439624		1915	4132	6047	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179439624G>A	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.66312C>T	2.37:g.179439624G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T14872T|TTN_uc010zfi.1_Silent_p.T14805T|TTN_uc010zfj.1_Silent_p.T14680T	p.T21177T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	63755	-			22104					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	Silent	SNP	ENST00000591111.1	37	c.63531C>T																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	18	0	0	0	0	14	18				
TTN	7273	broad.mit.edu	37	2	179446509	179446509	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179446509G>A	ENST00000591111.1	-	266	61787	c.61563C>T	c.(61561-61563)ttC>ttT	p.F20521F	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Silent_p.F22162F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.F19594F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.F13222F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.F13289F|TTN_ENST00000460472.2_Silent_p.F13097F|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20521	Fibronectin type-III 49. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ATACTTTAGGGAAAGCCGGTG	0.438																																						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.(58780-58782)TTC>TTT		titin isoform N2-A							21.0	20.0	20.0					2																	179446509		1847	4091	5938	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446509G>A	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.61563C>T	2.37:g.179446509G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.F13289F|TTN_uc010zfi.1_Silent_p.F13222F|TTN_uc010zfj.1_Silent_p.F13097F	p.F19594F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		265	59006	-			20521					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	Silent	SNP	ENST00000591111.1	37	c.58782C>T																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	18	0	0	0	0	4	18				
TTN	7273	broad.mit.edu	37	2	179474103	179474103	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179474103C>T	ENST00000591111.1	-	223	47235	c.47011G>A	c.(47011-47013)Gaa>Aaa	p.E15671K	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17312K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14744K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8372K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8439K|TTN_ENST00000460472.2_Missense_Mutation_p.E8247K			Q8WZ42	TITIN_HUMAN	titin	15671	Ig-like 98.				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)			ACAAATGGTTCTTCTTCTTGA	0.448																																						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.(44230-44232)GAA>AAA		titin isoform N2-A							128.0	128.0	128.0					2																	179474103		1983	4155	6138	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474103C>T	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.47011G>A	2.37:g.179474103C>T	ENSP00000465570:p.Glu15671Lys					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E8439K|TTN_uc010zfi.1_Missense_Mutation_p.E8372K|TTN_uc010zfj.1_Missense_Mutation_p.E8247K	p.E14744K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		222	44454	-			15671					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.44230G>A		.	.	.	.	.	.	.	.	.	.	C	13.23	2.176592	0.38413	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62105	0.05;0.29;0.28;0.27	5.65	3.8	0.43715	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51822	0.1697	L	0.52759	1.655	0.33298	D	0.56445	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.57636	-0.7777	9	0.87932	D	0	.	4.3052	0.10944	0.1318:0.6072:0.1274:0.1336	.	8247;8372;8439;15671	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	14744;8247;8439;8372;8247	ENSP00000343764:E14744K;ENSP00000434586:E8247K;ENSP00000340554:E8439K;ENSP00000352154:E8372K	ENSP00000340554:E8439K	E	-	1	0	TTN	179182348	1.000000	0.71417	0.715000	0.30552	0.988000	0.76386	1.411000	0.34702	0.677000	0.31305	0.563000	0.77884	GAA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	52	0	0	0	0	4	52				
TTN	7273	broad.mit.edu	37	2	179486278	179486278	+	Silent	SNP	G	G	A	rs72677223		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179486278G>A	ENST00000591111.1	-	195	40574	c.40350C>T	c.(40348-40350)aaC>aaT	p.N13450N	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Silent_p.N15091N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.N12523N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.N6151N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.N6218N|TTN_ENST00000460472.2_Silent_p.N6026N|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13450	Ig-like 90.				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)			CAAGGTGAGCGTTCTGAATGA	0.443																																						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.(37567-37569)AAC>AAT		titin isoform N2-A		G	,,,	0,4042		0,0,2021	139.0	138.0	138.0		18078,37569,18453,18654	-3.2	1.0	2	dbSNP_130	138	5,8377		0,5,4186	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,5,6207	AA,AG,GG		0.0597,0.0,0.0402	,,,	6026/26927,12523/33424,6151/27052,6218/27119	179486278	5,12419	2021	4191	6212	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179486278G>A	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.40350C>T	2.37:g.179486278G>A						TTN_uc010zfh.1_Silent_p.N6218N|TTN_uc010zfi.1_Silent_p.N6151N|TTN_uc010zfj.1_Silent_p.N6026N	p.N12523N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		194	37793	-			13450					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	Silent	SNP	ENST00000591111.1	37	c.37569C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	67	0	0	0	0	9	67				
TTN	7273	broad.mit.edu	37	2	179542597	179542597	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179542597C>T	ENST00000591111.1	-	144	33315	c.33091G>A	c.(33091-33093)Gaa>Aaa	p.E11031K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E11348K|TTN_ENST00000342992.6_Missense_Mutation_p.E10104K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	10171	Glu-rich.|Pro-rich.				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)			ACTTCCTCTTCCTGAGGTAGA	0.383																																						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.(30310-30312)GAA>AAA		titin isoform N2-A							73.0	71.0	72.0					2																	179542597		1832	4076	5908	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542597C>T	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.33091G>A	2.37:g.179542597C>T	ENSP00000465570:p.Glu11031Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6765K|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	p.E10104K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		143	30534	-			11031					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.30310G>A		.	.	.	.	.	.	.	.	.	.	C	13.98	2.397603	0.42512	.	.	ENSG00000155657	ENST00000342992	T	0.72167	-0.63	5.9	5.03	0.67393	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64349	0.2590	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.63001	-0.6734	8	0.87932	D	0	.	12.1915	0.54275	0.0:0.8588:0.0:0.1412	.	11031	Q8WZ42	TITIN_HUMAN	K	10104	ENSP00000343764:E10104K	ENSP00000343764:E10104K	E	-	1	0	TTN	179250842	0.985000	0.35326	0.909000	0.35828	0.719000	0.41307	2.735000	0.47377	1.521000	0.48983	0.650000	0.86243	GAA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	82	0	0	0	0	22	82				
TTN	7273	broad.mit.edu	37	2	179590733	179590733	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179590733G>A	ENST00000591111.1	-	68	19589	c.19365C>T	c.(19363-19365)acC>acT	p.T6455T	TTN_ENST00000589042.1_Silent_p.T6772T|TTN_ENST00000342992.6_Silent_p.T5528T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13222	Ig-like 46.				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)			CATTTTTAAGGGTTTCTACTA	0.403																																						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.(16582-16584)ACC>ACT		titin isoform N2-A							72.0	68.0	69.0					2																	179590733		1839	4095	5934	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590733G>A	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.19365C>T	2.37:g.179590733G>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2189T	p.T5528T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		67	16808	-			6455					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	Silent	SNP	ENST00000591111.1	37	c.16584C>T																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	55	0	0	0	0	9	55				
TTN	7273	broad.mit.edu	37	2	179594214	179594214	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179594214C>T	ENST00000591111.1	-	62	17942	c.17718G>A	c.(17716-17718)acG>acA	p.T5906T	TTN_ENST00000589042.1_Silent_p.T6223T|TTN_ENST00000342992.6_Silent_p.T4979T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12702	Ig-like 40.				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)			GAGGTGTTCCCGTAACTTCAC	0.448																																						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.(14935-14937)ACG>ACA		titin isoform N2-A							128.0	119.0	122.0					2																	179594214		1898	4117	6015	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594214C>T	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.17718G>A	2.37:g.179594214C>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T1640T	p.T4979T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		61	15161	-			5906					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	Silent	SNP	ENST00000591111.1	37	c.14937G>A																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	101	0	0	0	0	16	101				
TTN	7273	broad.mit.edu	37	2	179605333	179605333	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179605333A>T	ENST00000591111.1	-	46	11900	c.11676T>A	c.(11674-11676)ccT>ccA	p.P3892P	TTN_ENST00000589042.1_Silent_p.P4209P|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.P3971P|TTN_ENST00000342175.6_Silent_p.P4038P|TTN_ENST00000460472.2_Silent_p.P3846P|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					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)			AATTCCCTTCAGGTTCAGCTA	0.383																																						uc010zfh.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.(12112-12114)CCT>CCA		titin isoform novex-2							108.0	100.0	102.0					2																	179605333		1839	4097	5936	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605333A>T	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.11676T>A	2.37:g.179605333A>T						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.P3971P|TTN_uc010zfj.1_Silent_p.P3846P|TTN_uc002umz.1_Intron	p.P4038P	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12338	-			3961					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	Silent	SNP	ENST00000591111.1	37	c.12114T>A																																																																																					0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	92	0	0	0	0	17	92				
TTN	7273	broad.mit.edu	37	2	179616729	179616729	+	Intron	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179616729C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Silent_p.R3466R|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			CACGTGTATCCCTTTCTGAAT	0.358																																						uc002unb.2		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.(10396-10398)AGG>AGA		titin isoform novex-3							123.0	137.0	132.0					2																	179616729		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616729C>T	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.10360+1121G>A	2.37:g.179616729C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.R3466R	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10622	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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	Silent	SNP	ENST00000591111.1	37	c.10398G>A																																																																																					0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		68	138	0	0	0	0	68	138				
CCDC141	285025	broad.mit.edu	37	2	179732821	179732821	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179732821G>A	ENST00000420890.2	-	16	2623	c.2506C>T	c.(2506-2508)Cgt>Tgt	p.R836C	CCDC141_ENST00000295723.5_Missense_Mutation_p.R261C	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	836										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGGTCTACACGGGCTTGCTTT	0.498																																						uc002unf.1		NA																	0				ovary(7)|pancreas(2)|skin(1)	10						c.(781-783)CGT>TGT		coiled-coil domain containing 141							134.0	115.0	122.0					2																	179732821		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179732821G>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2506C>T	2.37:g.179732821G>A	ENSP00000395995:p.Arg836Cys						p.R261C	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		6	838	-			261					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.781C>T		.	.	.	.	.	.	.	.	.	.	G	19.54	3.847085	0.71603	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.46063	0.88;1.49;1.49;1.48	5.5	5.5	0.81552	.	0.202989	0.34002	N	0.004353	T	0.29093	0.0723	N	0.08118	0	0.23784	N	0.996859	D	0.54772	0.968	B	0.43783	0.431	T	0.26950	-1.0088	10	0.62326	D	0.03	-5.8812	16.66	0.85238	0.0:0.0:1.0:0.0	.	261	Q6ZP82	CC141_HUMAN	C	836;280;261;836	ENSP00000395995:R836C;ENSP00000344627:R280C;ENSP00000295723:R261C;ENSP00000390190:R836C	ENSP00000295723:R261C	R	-	1	0	CCDC141	179441066	0.919000	0.31177	0.516000	0.27786	0.329000	0.28539	4.123000	0.57917	2.745000	0.94114	0.650000	0.86243	CGT		0.498	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		43	41	0	0	0	0	43	41				
CCDC141	285025	broad.mit.edu	37	2	179742774	179742774	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179742774C>T	ENST00000409284.1	-	12	1933	c.1816G>A	c.(1816-1818)Gct>Act	p.A606T	CCDC141_ENST00000420890.2_Missense_Mutation_p.A606T|CCDC141_ENST00000295723.5_Missense_Mutation_p.A31T			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	606										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCTTCTCAGCCGAGTCAGAA	0.368																																						uc002unf.1		NA																	0				ovary(7)|pancreas(2)|skin(1)	10						c.(91-93)GCT>ACT		coiled-coil domain containing 141							90.0	90.0	90.0					2																	179742774		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179742774C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1816G>A	2.37:g.179742774C>T	ENSP00000386503:p.Ala606Thr					CCDC141_uc002ung.2_Missense_Mutation_p.A606T	p.A31T	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		2	148	-			31					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000409284.1	37	c.91G>A		.	.	.	.	.	.	.	.	.	.	c	9.288	1.049984	0.19827	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116;ENST00000409284	T;T;T;T	0.47528	0.84;1.41;1.38;1.45	5.04	-2.4	0.06583	.	0.456149	0.18344	N	0.144091	T	0.23210	0.0561	L	0.27053	0.805	0.09310	N	1	B;B	0.32245	0.361;0.089	B;B	0.28139	0.086;0.022	T	0.11817	-1.0572	10	0.23302	T	0.38	-0.4444	3.7288	0.08485	0.1075:0.5007:0.1159:0.2759	.	606;31	B8ZZB3;Q6ZP82	.;CC141_HUMAN	T	606;50;31;606;541;606	ENSP00000395995:A606T;ENSP00000344627:A50T;ENSP00000295723:A31T;ENSP00000390190:A606T	ENSP00000295723:A31T	A	-	1	0	CCDC141	179451019	0.000000	0.05858	0.027000	0.17364	0.002000	0.02628	-0.343000	0.07791	-0.189000	0.10482	-2.173000	0.00322	GCT		0.368	CCDC141-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000335873.1	NM_173648		21	79	0	0	0	0	21	79				
NEUROD1	4760	broad.mit.edu	37	2	182543494	182543494	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:182543494C>T	ENST00000295108.3	-	2	551	c.94G>A	c.(94-96)Gag>Aag	p.E32K	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	32					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCGTGCTCCTCGTCCTGAGAA	0.577																																						uc002uof.2		NA																	0				ovary(1)	1						c.(94-96)GAG>AAG		neurogenic differentiation 1							107.0	84.0	92.0					2																	182543494		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543494C>T	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.94G>A	2.37:g.182543494C>T	ENSP00000295108:p.Glu32Lys					CERKL_uc002uod.1_Intron	p.E32K	NM_002500	NP_002491	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	330	-			32					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.94G>A	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885902	0.72410	.	.	ENSG00000162992	ENST00000295108	D	0.95853	-3.83	5.37	5.37	0.77165	.	0.319538	0.29021	N	0.013385	D	0.89887	0.6845	L	0.34521	1.04	0.58432	D	0.99999	P	0.41393	0.748	B	0.18561	0.022	D	0.90420	0.4416	10	0.44086	T	0.13	-2.0429	16.6621	0.85243	0.0:1.0:0.0:0.0	.	32	Q13562	NDF1_HUMAN	K	32	ENSP00000295108:E32K	ENSP00000295108:E32K	E	-	1	0	NEUROD1	182251739	0.989000	0.36119	1.000000	0.80357	0.989000	0.77384	2.554000	0.45845	2.788000	0.95919	0.650000	0.86243	GAG		0.577	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		9	20	0	0	0	0	9	20				
NCKAP1	10787	broad.mit.edu	37	2	183843628	183843628	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:183843628G>A	ENST00000361354.4	-	14	1729	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	NCKAP1_ENST00000360982.2_Missense_Mutation_p.P459S	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	453					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCATCTTCAGGGCAAACAGAA	0.313																																						uc002upc.2		NA																	0				ovary(2)	2						c.(1357-1359)CCT>TCT		NCK-associated protein 1 isoform 1							48.0	50.0	49.0					2																	183843628		2203	4292	6495	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183843628G>A	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1357C>T	2.37:g.183843628G>A	ENSP00000355348:p.Pro453Ser					NCKAP1_uc002upb.2_Missense_Mutation_p.P459S	p.P453S	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		14	1759	-			453					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1357C>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804978	0.70682	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.30182	1.54;1.54	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.37697	1.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.11275	-1.0594	10	0.18276	T	0.48	-16.0695	19.6286	0.95691	0.0:0.0:1.0:0.0	.	453;459	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	S	453;459	ENSP00000355348:P453S;ENSP00000354251:P459S	ENSP00000354251:P459S	P	-	1	0	NCKAP1	183551873	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.740000	0.98839	2.692000	0.91855	0.650000	0.86243	CCT		0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		8	48	0	0	0	0	8	48				
ZNF804A	91752	broad.mit.edu	37	2	185802719	185802719	+	Missense_Mutation	SNP	G	G	A	rs554410119		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:185802719G>A	ENST00000302277.6	+	4	3190	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	866							metal ion binding (GO:0046872)	p.E866*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGCAAAAATCGAAAGGAACTC	0.353																																						uc002uph.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2596-2598)GAA>AAA		zinc finger protein 804A							77.0	72.0	74.0					2																	185802719		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802719G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2596G>A	2.37:g.185802719G>A	ENSP00000303252:p.Glu866Lys						p.E866K	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3190	+			866					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2596G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	2.613	-0.290413	0.05568	.	.	ENSG00000170396	ENST00000302277	T	0.06068	3.35	5.57	1.38	0.22167	.	0.747375	0.12204	N	0.489938	T	0.02929	0.0087	N	0.04880	-0.145	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.47235	-0.9133	10	0.24483	T	0.36	-2.59	6.5615	0.22489	0.2181:0.2385:0.5434:0.0	.	866	Q7Z570	Z804A_HUMAN	K	866	ENSP00000303252:E866K	ENSP00000303252:E866K	E	+	1	0	ZNF804A	185510964	0.001000	0.12720	0.000000	0.03702	0.057000	0.15508	0.669000	0.25142	0.263000	0.21812	0.591000	0.81541	GAA		0.353	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		19	41	0	0	0	0	19	41				
SLC40A1	30061	broad.mit.edu	37	2	190426734	190426734	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:190426734G>A	ENST00000261024.2	-	8	2012	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	529					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TGCCACAAAGGAGACTGAAAT	0.433																																						uc002uqp.3		NA																	0				ovary(1)	1						c.(1585-1587)TCC>TTC		solute carrier family 40 (iron-regulated							90.0	84.0	86.0					2																	190426734		2203	4300	6503	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190426734G>A	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1586C>T	2.37:g.190426734G>A	ENSP00000261024:p.Ser529Phe						p.S529F	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		8	1937	-			529			Helical; (Potential).		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.1586C>T	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.588012	0.66105	.	.	ENSG00000138449	ENST00000261024	T	0.80480	-1.38	5.92	5.92	0.95590	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	L	0.48362	1.52	0.80722	D	1	B	0.16802	0.019	B	0.19666	0.026	T	0.70350	-0.4896	10	0.09084	T	0.74	-10.031	20.3138	0.98647	0.0:0.0:1.0:0.0	.	529	Q9NP59	S40A1_HUMAN	F	529	ENSP00000261024:S529F	ENSP00000261024:S529F	S	-	2	0	SLC40A1	190134979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.814000	0.96858	0.585000	0.79938	TCC		0.433	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			5	36	0	0	0	0	5	36				
PGAP1	80055	broad.mit.edu	37	2	197729786	197729786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:197729786C>A	ENST00000354764.4	-	20	1900	c.1786G>T	c.(1786-1788)Gga>Tga	p.G596*	PGAP1_ENST00000409475.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	596					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GGAAGAGCTCCACCATGAAAT	0.328																																						uc002utw.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1786-1788)GGA>TGA		GPI deacylase							62.0	55.0	57.0					2																	197729786		2203	4295	6498	SO:0001587	stop_gained	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197729786C>A		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1786G>T	2.37:g.197729786C>A	ENSP00000346809:p.Gly596*					PGAP1_uc002utx.2_Nonsense_Mutation_p.G422*|PGAP1_uc002uty.1_Intron	p.G596*	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			20	1900	-			596			Lumenal (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Nonsense_Mutation	SNP	ENST00000354764.4	37	c.1786G>T	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	38	6.981430	0.97979	.	.	ENSG00000197121	ENST00000422382;ENST00000354764	.	.	.	5.0	5.0	0.66597	.	0.192349	0.45867	D	0.000323	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8759	11.0262	0.47746	0.0:0.9122:0.0:0.0878	.	.	.	.	X	376;596	.	ENSP00000346809:G596X	G	-	1	0	PGAP1	197438031	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.140000	0.50585	2.579000	0.87056	0.655000	0.94253	GGA		0.328	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		20	29	1	0	1.02e-10	1.05e-10	20	29				
ANKRD44	91526	broad.mit.edu	37	2	197990587	197990587	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:197990587G>A	ENST00000328737.2	-	5	437	c.361C>T	c.(361-363)Cat>Tat	p.H121Y	ANKRD44_ENST00000450567.1_Missense_Mutation_p.H121Y|ANKRD44_ENST00000409919.1_Missense_Mutation_p.H146Y|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H138Y|ANKRD44_ENST00000337207.5_Missense_Mutation_p.H121Y|ANKRD44_ENST00000539527.1_Missense_Mutation_p.H74Y|ANKRD44_ENST00000409153.1_Missense_Mutation_p.H146Y			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	146										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGAGCCGCATGGTGCAAGGCT	0.537																																						uc002uuc.2		NA																	0				ovary(4)|skin(1)	5						c.(436-438)CAT>TAT		ankyrin repeat domain 44							101.0	98.0	99.0					2																	197990587		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197990587G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.361C>T	2.37:g.197990587G>A	ENSP00000331516:p.His121Tyr					ANKRD44_uc002uua.1_Missense_Mutation_p.H121Y|ANKRD44_uc002uub.2_Missense_Mutation_p.H146Y|ANKRD44_uc010zgw.1_Missense_Mutation_p.H74Y	p.H146Y	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	603	-			146			ANK 5.		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.436C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.413405	0.96072	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T	0.63255	-0.01;-0.01;-0.01;-0.01;-0.01;-0.03;-0.01	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	N	0.02412	-0.56	0.80722	D	1	D;D	0.71674	0.998;0.97	D;D	0.74348	0.983;0.961	T	0.52578	-0.8557	10	0.02654	T	1	.	19.2539	0.93938	0.0:0.0:1.0:0.0	.	74;146	F5H682;Q8N8A2-3	.;.	Y	138;121;121;121;146;74;146	ENSP00000282272:H138Y;ENSP00000331516:H121Y;ENSP00000402420:H121Y;ENSP00000338794:H121Y;ENSP00000387141:H146Y;ENSP00000437825:H74Y;ENSP00000387233:H146Y	ENSP00000282272:H138Y	H	-	1	0	ANKRD44	197698832	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	9.601000	0.98297	2.780000	0.95670	0.655000	0.94253	CAT		0.537	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		15	88	0	0	0	0	15	88				
SATB2	23314	broad.mit.edu	37	2	200173603	200173603	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:200173603G>A	ENST00000417098.1	-	10	2436	c.1620C>T	c.(1618-1620)acC>acT	p.T540T	SATB2_ENST00000457245.1_Silent_p.T540T|SATB2_ENST00000428695.1_Silent_p.T422T|SATB2_ENST00000443023.1_Silent_p.T481T|SATB2_ENST00000260926.5_Silent_p.T540T	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	540					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCGACGGATGGTACAGAGGT	0.572																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	0				ovary(1)	1						c.(1618-1620)ACC>ACT		SATB homeobox 2							143.0	114.0	124.0					2																	200173603		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200173603G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1620C>T	2.37:g.200173603G>A						SATB2_uc010fsq.1_Silent_p.T422T|SATB2_uc002uuz.1_Silent_p.T540T|SATB2_uc002uva.1_Silent_p.T540T	p.T540T	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			10	2437	-			540			CUT 2.		A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1620C>T	CCDS2327.1																																																																																				0.572	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		16	63	0	0	0	0	16	63				
CARF	79800	broad.mit.edu	37	2	203776182	203776182	+	5'Flank	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:203776182T>A	ENST00000402905.3	+	0	0				CARF_ENST00000444724.1_5'Flank|WDR12_ENST00000477723.1_Intron|CARF_ENST00000320443.8_5'Flank|CARF_ENST00000545253.1_5'Flank|CARF_ENST00000414439.1_5'Flank|CARF_ENST00000428585.1_5'Flank|CARF_ENST00000456821.2_5'Flank|CARF_ENST00000438828.2_5'Flank|CARF_ENST00000434998.1_5'Flank|CARF_ENST00000545262.1_5'Flank|WDR12_ENST00000261015.4_Silent_p.T6T	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor						cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTAGAAGCGTGTTTGGAGCT	0.522																																						uc002uzl.2		NA																	0					0						c.(16-18)ACA>ACT		WD repeat domain 12 protein							148.0	145.0	146.0					2																	203776182		2203	4300	6503	SO:0001631	upstream_gene_variant	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203776182T>A	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528		2.37:g.203776182T>A	Exception_encountered					ALS2CR8_uc002uzn.2_5'Flank|ALS2CR8_uc002uzm.2_5'Flank|ALS2CR8_uc010zhy.1_5'Flank|ALS2CR8_uc010zhz.1_5'Flank|ALS2CR8_uc010ftu.1_5'Flank|ALS2CR8_uc002uzo.2_5'Flank|ALS2CR8_uc010zia.1_5'Flank|ALS2CR8_uc010zib.1_5'Flank|ALS2CR8_uc010zic.1_5'Flank|ALS2CR8_uc002uzp.2_5'Flank|WDR12_uc010ftt.2_Silent_p.T6T	p.T6T	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN			1	768	-			6					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Silent	SNP	ENST00000402905.3	37	c.18A>T	CCDS42801.1																																																																																				0.522	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		16	56	0	0	0	0	16	56				
NBEAL1	65065	broad.mit.edu	37	2	204055018	204055018	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:204055018C>T	ENST00000449802.1	+	45	7073	c.6740C>T	c.(6739-6741)gCt>gTt	p.A2247V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2247	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTTTTAGGAGCTGTGGATCTG	0.383																																						uc002uzt.3		NA																	0				ovary(1)|skin(1)	2						c.(6739-6741)GCT>GTT		neurobeachin-like 1 isoform 3							88.0	91.0	90.0					2																	204055018		1930	4124	6054	SO:0001583	missense	65065						binding	g.chr2:204055018C>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6740C>T	2.37:g.204055018C>T	ENSP00000399903:p.Ala2247Val					NBEAL1_uc002uzs.3_Missense_Mutation_p.A957V	p.A2247V	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			45	7073	+			2247			BEACH.		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.6740C>T	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055682	0.93793	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.76316	-1.01;-1.01	5.07	5.07	0.68467	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.86896	0.6043	M	0.63208	1.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87656	0.2531	10	0.62326	D	0.03	.	18.4081	0.90541	0.0:1.0:0.0:0.0	.	2247;2236	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	V	2247;2247;262	ENSP00000399903:A2247V;ENSP00000388466:A262V	ENSP00000344985:A2247V	A	+	2	0	NBEAL1	203763263	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.349000	0.79376	2.528000	0.85240	0.460000	0.39030	GCT		0.383	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			37	75	0	0	0	0	37	75				
PARD3B	117583	broad.mit.edu	37	2	206480250	206480250	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:206480250C>T	ENST00000406610.2	+	23	3538	c.3331C>T	c.(3331-3333)Ccc>Tcc	p.P1111S	PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000358768.2_Missense_Mutation_p.P1049S|PARD3B_ENST00000351153.1_Missense_Mutation_p.P1042S|PARD3B_ENST00000349953.3_Missense_Mutation_p.P1010S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1111					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGGGAGCTTCCCTATTATCC	0.577																																						uc002var.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(3331-3333)CCC>TCC		par-3 partitioning defective 3 homolog B isoform							83.0	88.0	86.0					2																	206480250		1924	4135	6059	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206480250C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3331C>T	2.37:g.206480250C>T	ENSP00000385848:p.Pro1111Ser					PARD3B_uc002vao.1_Missense_Mutation_p.P1010S|PARD3B_uc002vap.1_Missense_Mutation_p.P1049S|PARD3B_uc002vaq.1_Missense_Mutation_p.P1042S|uc010fuc.1_5'Flank	p.P1111S	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	23	3538	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	1111					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.3331C>T		.	.	.	.	.	.	.	.	.	.	C	16.50	3.139338	0.56936	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.20598	2.28;2.06;2.15;2.2	6.07	6.07	0.98685	.	0.000000	0.56097	D	0.000027	T	0.50137	0.1598	M	0.71036	2.16	0.45979	D	0.998798	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.997;0.922;0.999;0.964	T	0.41805	-0.9488	10	0.72032	D	0.01	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1111;1042;1049;1010	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	S	1111;1049;1042;1010	ENSP00000385848:P1111S;ENSP00000351618:P1049S;ENSP00000317261:P1042S;ENSP00000340280:P1010S	ENSP00000340280:P1010S	P	+	1	0	PARD3B	206188495	1.000000	0.71417	0.997000	0.53966	0.690000	0.40134	5.288000	0.65651	2.884000	0.98904	0.655000	0.94253	CCC		0.577	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		12	74	0	0	0	0	12	74				
METTL21A	151194	broad.mit.edu	37	2	208486555	208486555	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:208486555C>T	ENST00000411432.1	-	3	450	c.234G>A	c.(232-234)ctG>ctA	p.L78L	METTL21A_ENST00000448823.2_Intron|METTL21A_ENST00000442521.1_Silent_p.L78L|METTL21A_ENST00000425132.1_Silent_p.L78L|METTL21A_ENST00000426075.1_Silent_p.L78L|METTL21A_ENST00000432416.1_Silent_p.L78L|METTL21A_ENST00000406927.2_Silent_p.L78L|METTL21A_ENST00000458426.1_Silent_p.L78L|METTL21A_ENST00000448007.2_Silent_p.L78L|METTL21A_ENST00000272839.3_Silent_p.L78L	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	78					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CTATGCCCACCAGCCCCGTGC	0.557																																						uc002vcf.2		NA																	0					0						c.(232-234)CTG>CTA		hypothetical protein LOC151194							78.0	78.0	78.0					2																	208486555		2203	4300	6503	SO:0001819	synonymous_variant	151194					integral to membrane	methyltransferase activity	g.chr2:208486555C>T	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.234G>A	2.37:g.208486555C>T						FAM119A_uc002vce.2_Silent_p.L78L|FAM119A_uc010fuk.1_Silent_p.L78L|FAM119A_uc002vcg.3_Silent_p.L78L	p.L78L	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)	3	394	-			78			Helical; (Potential).		Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	ENST00000411432.1	37	c.234G>A	CCDS2376.1																																																																																				0.557	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		9	67	0	0	0	0	9	67				
MAP2	4133	broad.mit.edu	37	2	210559487	210559487	+	Nonsense_Mutation	SNP	G	G	T	rs188844755		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:210559487G>T	ENST00000360351.4	+	7	3099	c.2593G>T	c.(2593-2595)Gaa>Taa	p.E865*	MAP2_ENST00000447185.1_Nonsense_Mutation_p.E861*|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	865					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CAGTCAGCTCGAAGACCTGGG	0.468																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(2593-2595)GAA>TAA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						83.0	74.0	77.0					2																	210559487		2203	4300	6503	SO:0001587	stop_gained	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559487G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2593G>T	2.37:g.210559487G>T	ENSP00000353508:p.Glu865*					MAP2_uc002vdc.1_Nonsense_Mutation_p.E865*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.E861*	p.E865*	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2841	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	865					Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	ENST00000360351.4	37	c.2593G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	38	6.789109	0.97841	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	.	.	.	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.7915	20.0567	0.97653	0.0:0.0:1.0:0.0	.	.	.	.	X	865;861	.	ENSP00000353508:E865X	E	+	1	0	MAP2	210267732	1.000000	0.71417	0.965000	0.40720	0.947000	0.59692	9.229000	0.95273	2.752000	0.94435	0.650000	0.86243	GAA		0.468	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		31	46	1	0	1.56e-20	1.62e-20	31	46				
CPS1	1373	broad.mit.edu	37	2	211503916	211503916	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:211503916C>G	ENST00000233072.5	+	23	3068	c.2872C>G	c.(2872-2874)Ctc>Gtc	p.L958V	CPS1_ENST00000451903.2_Missense_Mutation_p.L507V|CPS1_ENST00000430249.2_Missense_Mutation_p.L964V|CPS1_ENST00000497121.1_3'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	958			L -> P (in CPS1D). {ECO:0000269|PubMed:16737834}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AACAAACTATCTCTATGTTAC	0.313																																						uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2872-2874)CTC>GTC		carbamoyl-phosphate synthetase 1 isoform b							69.0	64.0	65.0					2																	211503916		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211503916C>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2872C>G	2.37:g.211503916C>G	ENSP00000233072:p.Leu958Val					CPS1_uc010fur.2_Missense_Mutation_p.L964V|CPS1_uc010fus.2_Missense_Mutation_p.L507V	p.L958V	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	23	3004	+			958					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2872C>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155858	0.78114	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96992	-4.2;-4.2;-4.2	5.26	5.26	0.73747	Pre-ATP-grasp fold (1);Carbamoyl-phosphate synthetase, large subunit, oligomerisation (2);	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	H	0.98559	4.265	0.49389	D	0.999786	D;D	0.69078	0.997;0.997	P;P	0.60345	0.873;0.873	D	0.99509	1.0955	10	0.87932	D	0	-7.3196	19.2249	0.93815	0.0:1.0:0.0:0.0	.	968;958	Q59HF8;P31327	.;CPSM_HUMAN	V	964;966;958;507	ENSP00000402608:L964V;ENSP00000233072:L958V;ENSP00000406136:L507V	ENSP00000233072:L958V	L	+	1	0	CPS1	211212161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.143000	0.58051	2.618000	0.88619	0.650000	0.86243	CTC		0.313	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			3	25	0	0	0	0	3	25				
BARD1	580	broad.mit.edu	37	2	215610516	215610516	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:215610516T>C	ENST00000260947.4	-	8	1874	c.1740A>G	c.(1738-1740)gaA>gaG	p.E580E	BARD1_ENST00000449967.2_Silent_p.E436E	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	580	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTCTGTTGTTCTGAAGACA	0.403									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2		NA																	0				lung(2)	2						c.(1738-1740)GAA>GAG		BRCA1 associated RING domain 1							177.0	177.0	177.0					2																	215610516		2203	4300	6503	SO:0001819	synonymous_variant	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215610516T>C		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1740A>G	2.37:g.215610516T>C						BARD1_uc010zjm.1_Silent_p.E436E	p.E580E	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	8	1875	-		Renal(323;0.0243)	580			BRCT 1.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Silent	SNP	ENST00000260947.4	37	c.1740A>G	CCDS2397.1																																																																																				0.403	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		39	170	0	0	0	0	39	170				
FN1	2335	broad.mit.edu	37	2	216269261	216269261	+	Missense_Mutation	SNP	C	C	T	rs199915234		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:216269261C>T	ENST00000359671.1	-	20	3369	c.3104G>A	c.(3103-3105)cGa>cAa	p.R1035Q	FN1_ENST00000443816.1_Missense_Mutation_p.R1035Q|FN1_ENST00000323926.6_Missense_Mutation_p.R1035Q|FN1_ENST00000357867.4_Missense_Mutation_p.R1035Q|FN1_ENST00000354785.4_Missense_Mutation_p.R1035Q|FN1_ENST00000446046.1_Missense_Mutation_p.R1035Q|FN1_ENST00000432072.2_Missense_Mutation_p.R1035Q|FN1_ENST00000356005.4_Missense_Mutation_p.R1035Q|FN1_ENST00000345488.5_Missense_Mutation_p.R1035Q|FN1_ENST00000336916.4_Missense_Mutation_p.R1035Q|FN1_ENST00000346544.3_Missense_Mutation_p.R1035Q|FN1_ENST00000357009.2_Missense_Mutation_p.R1035Q|FN1_ENST00000421182.1_Missense_Mutation_p.R1035Q			P02751	FINC_HUMAN	fibronectin 1	1035	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTGTCCTCTTCGGGTAAGGCC	0.552																																						uc002vfa.2		NA																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(3103-3105)CGA>CAA		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						113.0	102.0	106.0					2																	216269261		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216269261C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3104G>A	2.37:g.216269261C>T	ENSP00000352696:p.Arg1035Gln					FN1_uc002vfb.2_Missense_Mutation_p.R1035Q|FN1_uc002vfc.2_Missense_Mutation_p.R1035Q|FN1_uc002vfd.2_Missense_Mutation_p.R1035Q|FN1_uc002vfe.2_Missense_Mutation_p.R1035Q|FN1_uc002vff.2_Missense_Mutation_p.R1035Q|FN1_uc002vfg.2_Missense_Mutation_p.R1035Q|FN1_uc002vfh.2_Missense_Mutation_p.R1035Q|FN1_uc002vfi.2_Missense_Mutation_p.R1035Q|FN1_uc002vfj.2_Missense_Mutation_p.R1035Q	p.R1035Q	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	20	3370	-		Renal(323;0.127)	1035			|Fibronectin type-III 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.3104G>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.158005	0.78114	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000026	T	0.63861	0.2547	L	0.38531	1.155	0.48452	D	0.999659	D;P;D;D;D;P;D;D;D;D	0.76494	0.999;0.926;0.986;0.999;0.999;0.946;0.999;0.998;0.999;0.966	D;P;P;P;D;P;D;D;D;P	0.81914	0.991;0.611;0.786;0.891;0.995;0.51;0.938;0.991;0.991;0.629	T	0.59778	-0.7390	10	0.39692	T	0.17	.	16.5813	0.84715	0.0:0.87:0.13:0.0	.	1035;1035;1035;1035;1035;1035;1035;1035;1035;1035	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	Q	1035	ENSP00000394423:R1035Q;ENSP00000323534:R1035Q;ENSP00000338200:R1035Q;ENSP00000350534:R1035Q;ENSP00000346839:R1035Q;ENSP00000352696:R1035Q;ENSP00000265312:R1035Q;ENSP00000273049:R1035Q;ENSP00000349509:R1035Q;ENSP00000410422:R1035Q;ENSP00000415018:R1035Q;ENSP00000399538:R1035Q;ENSP00000348285:R1035Q	ENSP00000265313:R1035Q	R	-	2	0	FN1	215977506	0.986000	0.35501	1.000000	0.80357	0.839000	0.47603	3.315000	0.51951	2.826000	0.97356	0.655000	0.94253	CGA		0.552	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		18	50	0	0	0	0	18	50				
IGFBP5	3488	broad.mit.edu	37	2	217542855	217542855	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:217542855C>T	ENST00000233813.4	-	3	1416	c.667G>A	c.(667-669)Gga>Aga	p.G223R		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	223	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTAGAATCCTTTGCGGTCA	0.602																																						uc002vgj.3		NA																	0					0						c.(667-669)GGA>AGA		insulin-like growth factor binding protein 5							74.0	73.0	74.0					2																	217542855		2203	4300	6503	SO:0001583	missense	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217542855C>T		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.667G>A	2.37:g.217542855C>T	ENSP00000233813:p.Gly223Arg						p.G223R	NM_000599	NP_000590	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	1441	-		Renal(323;0.0822)	223			Thyroglobulin type-1.		Q5U0A3	Missense_Mutation	SNP	ENST00000233813.4	37	c.667G>A	CCDS2405.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906685	0.92107	.	.	ENSG00000115461	ENST00000233813	D	0.94687	-3.49	4.75	4.75	0.60458	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	D	0.98108	0.9376	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99414	1.0931	10	0.87932	D	0	-4.4062	16.9232	0.86168	0.0:1.0:0.0:0.0	.	223	P24593	IBP5_HUMAN	R	223	ENSP00000233813:G223R	ENSP00000233813:G223R	G	-	1	0	IGFBP5	217251100	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.534000	0.82004	2.451000	0.82905	0.561000	0.74099	GGA		0.602	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		10	63	0	0	0	0	10	63				
TNS1	7145	broad.mit.edu	37	2	218712421	218712421	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:218712421G>A	ENST00000171887.4	-	17	2896	c.2444C>T	c.(2443-2445)gCc>gTc	p.A815V	TNS1_ENST00000419504.1_Missense_Mutation_p.A815V|TNS1_ENST00000430930.1_Missense_Mutation_p.A815V|TNS1_ENST00000480665.1_5'Flank	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	815					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGAGGAAGAGGCTGGGCTCTT	0.597																																						uc002vgt.2		NA																	0				ovary(3)|breast(1)	4						c.(2443-2445)GCC>GTC		tensin							90.0	70.0	77.0					2																	218712421		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712421G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2444C>T	2.37:g.218712421G>A	ENSP00000171887:p.Ala815Val					TNS1_uc002vgr.2_Missense_Mutation_p.A815V|TNS1_uc002vgs.2_Missense_Mutation_p.A815V|TNS1_uc010zjv.1_Missense_Mutation_p.A815V|TNS1_uc010fvj.1_Missense_Mutation_p.A883V|TNS1_uc010fvk.1_Missense_Mutation_p.A940V|TNS1_uc010fvi.1_Missense_Mutation_p.A502V	p.A815V	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2842	-		Renal(207;0.0483)|Lung NSC(271;0.213)	815					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.2444C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	8.076	0.771271	0.16051	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930	D;D;D	0.91464	-2.84;-2.84;-2.85	4.11	2.24	0.28232	.	0.774432	0.11944	N	0.514436	T	0.78559	0.4302	N	0.14661	0.345	0.23816	N	0.996765	B;B;B;B;B	0.13145	0.001;0.003;0.001;0.007;0.001	B;B;B;B;B	0.09377	0.002;0.003;0.001;0.004;0.002	T	0.62609	-0.6818	10	0.14252	T	0.57	.	6.0554	0.19809	0.1695:0.0:0.6807:0.1498	.	815;869;815;815;815	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	V	815	ENSP00000171887:A815V;ENSP00000408724:A815V;ENSP00000406016:A815V	ENSP00000171887:A815V	A	-	2	0	TNS1	218420666	0.022000	0.18835	0.980000	0.43619	0.494000	0.33585	0.921000	0.28718	0.923000	0.37045	0.462000	0.41574	GCC		0.597	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		29	36	0	0	0	0	29	36				
PNKD	25953	broad.mit.edu	37	2	219208288	219208288	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219208288G>A	ENST00000273077.4	+	8	898	c.847G>A	c.(847-849)Gat>Aat	p.D283N	PNKD_ENST00000436005.2_Missense_Mutation_p.D223N|PNKD_ENST00000258362.3_Missense_Mutation_p.D259N|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	283					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCTAGGGGATGACACCCT	0.632																																						uc002vhn.2		NA																	0					0						c.(847-849)GAT>AAT		myofibrillogenesis regulator 1 isoform 1							187.0	141.0	157.0					2																	219208288		2203	4300	6503	SO:0001583	missense	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219208288G>A		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.847G>A	2.37:g.219208288G>A	ENSP00000273077:p.Asp283Asn					PNKD_uc002vhq.2_Missense_Mutation_p.D259N	p.D283N	NM_015488	NP_056303	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	991	+		Renal(207;0.0474)	283					A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	ENST00000273077.4	37	c.847G>A	CCDS2411.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661398	0.88154	.	.	ENSG00000127838	ENST00000273077;ENST00000258362;ENST00000436005	T;T;T	0.80123	-1.34;-1.34;-1.34	4.69	4.69	0.59074	Beta-lactamase-like (2);	0.161325	0.51477	D	0.000084	D	0.89451	0.6719	M	0.79926	2.475	0.80722	D	1	D;D	0.71674	0.974;0.998	P;D	0.69824	0.844;0.966	D	0.90344	0.4361	10	0.54805	T	0.06	-11.2891	16.539	0.84380	0.0:0.0:1.0:0.0	.	259;283	Q8N490-3;Q8N490	.;PNKD_HUMAN	N	283;259;223	ENSP00000273077:D283N;ENSP00000258362:D259N;ENSP00000414400:D223N	ENSP00000258362:D259N	D	+	1	0	PNKD	218916532	1.000000	0.71417	0.720000	0.30636	0.926000	0.56050	8.341000	0.90046	2.427000	0.82271	0.561000	0.74099	GAT		0.632	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			6	13	0	0	0	0	6	13				
VIL1	7429	broad.mit.edu	37	2	219292994	219292994	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219292994C>T	ENST00000248444.5	+	6	589	c.501C>T	c.(499-501)ctC>ctT	p.L167L	VIL1_ENST00000440053.1_Silent_p.L167L|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	167	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTTTTCCTCCTGGACCTTG	0.552																																						uc002via.2		NA																	0				ovary(1)	1						c.(499-501)CTC>CTT		villin 1							147.0	134.0	138.0					2																	219292994		2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219292994C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.501C>T	2.37:g.219292994C>T						VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.L167L|VIL1_uc002vic.1_Silent_p.L167L	p.L167L	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	566	+		Renal(207;0.0474)	167			Gelsolin-like 2.|Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.501C>T	CCDS2417.1																																																																																				0.552	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		11	56	0	0	0	0	11	56				
ZNF142	7701	broad.mit.edu	37	2	219508571	219508571	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219508571G>A	ENST00000449707.1	-	8	3089	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	ZNF142_ENST00000411696.2_Missense_Mutation_p.P890S	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	890					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGTAGAACAGGGCACTTCTTC	0.607																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(2668-2670)CCT>TCT		zinc finger protein 142							101.0	106.0	104.0					2																	219508571		1999	4166	6165	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508571G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2668C>T	2.37:g.219508571G>A	ENSP00000408643:p.Pro890Ser					ZNF142_uc002vil.2_Missense_Mutation_p.P851S|ZNF142_uc010fvt.2_Missense_Mutation_p.P727S|ZNF142_uc002vim.2_Missense_Mutation_p.P727S	p.P890S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	3104	-		Renal(207;0.0474)	890					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.2668C>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606735	0.66558	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.14266	2.52;2.52	5.28	5.28	0.74379	.	0.182348	0.48286	D	0.000190	T	0.26738	0.0654	L	0.29908	0.895	0.45477	D	0.998444	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.02698	-1.1122	10	0.22706	T	0.39	-12.981	18.9356	0.92584	0.0:0.0:1.0:0.0	.	890;727	P52746;A8MWU9	ZN142_HUMAN;.	S	890	ENSP00000408643:P890S;ENSP00000398798:P890S	ENSP00000398798:P890S	P	-	1	0	ZNF142	219216815	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	5.466000	0.66731	2.467000	0.83353	0.655000	0.94253	CCT		0.607	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		21	124	0	0	0	0	21	124				
RNF25	64320	broad.mit.edu	37	2	219536676	219536676	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219536676A>G	ENST00000295704.2	-	1	458	c.18T>C	c.(16-18)tcT>tcC	p.S6S	STK36_ENST00000392106.2_5'Flank|STK36_ENST00000295709.3_5'Flank|STK36_ENST00000440309.1_5'Flank|STK36_ENST00000392105.3_5'Flank	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	6					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCAGCTGCAGACGCAGACG	0.622																																						uc002vit.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(16-18)TCT>TCC		ring finger protein 25							39.0	40.0	40.0					2																	219536676		2203	4300	6503	SO:0001819	synonymous_variant	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219536676A>G		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.18T>C	2.37:g.219536676A>G						STK36_uc002viu.2_5'Flank|STK36_uc002viv.2_5'Flank|RNF25_uc010fvw.2_5'UTR	p.S6S	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	106	-		Renal(207;0.0474)	6					A8K0D6|Q53HQ5|Q9H874	Silent	SNP	ENST00000295704.2	37	c.18T>C	CCDS2420.1																																																																																				0.622	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		6	15	0	0	0	0	6	15				
CCDC108	255101	broad.mit.edu	37	2	219892419	219892419	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219892419G>A	ENST00000341552.5	-	13	2247	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S	CCDC108_ENST00000410037.1_Missense_Mutation_p.P657S|CCDC108_ENST00000441968.1_Missense_Mutation_p.P722S|CCDC108_ENST00000409865.3_Missense_Mutation_p.P711S|CCDC108_ENST00000453220.1_Missense_Mutation_p.P722S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	722						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCAGTTGGGGTGAGGCGGC	0.612																																						uc002vjl.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2164-2166)CCC>TCC		coiled-coil domain containing 108 isoform 1							81.0	83.0	82.0					2																	219892419		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219892419G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2164C>T	2.37:g.219892419G>A	ENSP00000340776:p.Pro722Ser					CCDC108_uc010fwa.1_Missense_Mutation_p.P165S|CCDC108_uc010zkp.1_Missense_Mutation_p.P711S|CCDC108_uc010zkq.1_Missense_Mutation_p.P657S	p.P722S	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2248	-		Renal(207;0.0915)	722					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2164C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602696	0.46423	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.07114	3.48;3.48;3.48;3.22;3.23	5.18	3.26	0.37387	.	0.311922	0.23386	N	0.048752	T	0.09379	0.0231	M	0.67953	2.075	0.80722	D	1	B;B;P	0.40230	0.384;0.384;0.708	B;B;B	0.38428	0.246;0.151;0.273	T	0.21381	-1.0247	10	0.13108	T	0.6	-14.7282	9.264	0.37630	0.0796:0.2706:0.6498:0.0	.	711;656;722	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	S	722;722;722;198;711;657;656	ENSP00000340776:P722S;ENSP00000413377:P722S;ENSP00000409117:P722S;ENSP00000386945:P711S;ENSP00000386258:P657S	ENSP00000340776:P722S	P	-	1	0	CCDC108	219600663	1.000000	0.71417	0.316000	0.25252	0.958000	0.62258	2.290000	0.43531	0.666000	0.31087	0.655000	0.94253	CCC		0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		14	83	0	0	0	0	14	83				
FAM134A	79137	broad.mit.edu	37	2	220047121	220047121	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:220047121C>T	ENST00000430297.2	+	9	1538	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	468						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCATTCTCCCACCTGTTCC	0.627																																						uc002vjw.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1402-1404)CCA>TCA		hypothetical protein LOC79137							85.0	87.0	86.0					2																	220047121		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220047121C>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1402C>T	2.37:g.220047121C>T	ENSP00000395249:p.Pro468Ser					FAM134A_uc010fwc.2_Missense_Mutation_p.P261S|FAM134A_uc002vjx.2_Intron	p.P468S	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1538	+		Renal(207;0.0915)	468					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.1402C>T	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	C	7.020	0.558586	0.13436	.	.	ENSG00000144567	ENST00000430297	T	0.35236	1.32	5.26	3.39	0.38822	.	0.349867	0.29791	N	0.011190	T	0.30603	0.0770	M	0.64997	1.995	0.36127	D	0.845863	B	0.06786	0.001	B	0.06405	0.002	T	0.20505	-1.0273	9	.	.	.	-2.3389	5.9513	0.19248	0.1494:0.6867:0.0:0.1639	.	468	Q8NC44	F134A_HUMAN	S	468	ENSP00000395249:P468S	.	P	+	1	0	FAM134A	219755365	0.994000	0.37717	0.076000	0.20297	0.040000	0.13550	3.107000	0.50329	0.726000	0.32339	-0.345000	0.07892	CCA		0.627	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		27	59	0	0	0	0	27	59				
SPEG	10290	broad.mit.edu	37	2	220356873	220356873	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:220356873G>A	ENST00000312358.7	+	40	9634	c.9502G>A	c.(9502-9504)Gaa>Aaa	p.E3168K	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3168	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGACCCCCAGGAAACGGAGGC	0.582																																						uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(9502-9504)GAA>AAA		SPEG complex locus							51.0	56.0	54.0					2																	220356873		1948	4135	6083	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220356873G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9502G>A	2.37:g.220356873G>A	ENSP00000311684:p.Glu3168Lys						p.E3168K	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	40	9502	+		Renal(207;0.0183)	3168			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.9502G>A	CCDS42824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.454679|4.454679	0.84209|0.84209	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000312358;ENST00000265327|ENST00000412982	T|.	0.65732|.	-0.17|.	4.44|4.44	4.44|4.44	0.53790|0.53790	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|.	0.39146|.	N|.	0.001442|.	T|T	0.62060|0.62060	0.2397|0.2397	L|L	0.43646|0.43646	1.37|1.37	0.80722|0.80722	D|D	1|1	D|.	0.61080|.	0.989|.	P|.	0.60117|.	0.869|.	T|T	0.59579|0.59579	-0.7428|-0.7428	10|5	0.56958|.	D|.	0.05|.	.|.	16.8664|16.8664	0.86029|0.86029	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3168|.	Q15772|.	SPEG_HUMAN|.	K|E	3168|15	ENSP00000311684:E3168K|.	ENSP00000265327:E3168K|.	E|G	+|+	1|2	0|0	SPEG|SPEG	220065117|220065117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	3.609000|3.609000	0.54117|0.54117	2.311000|2.311000	0.77944|0.77944	0.467000|0.467000	0.42956|0.42956	GAA|GGA		0.582	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		13	32	0	0	0	0	13	32				
OBSL1	23363	broad.mit.edu	37	2	220422771	220422771	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:220422771C>T	ENST00000404537.1	-	11	3620	c.3564G>A	c.(3562-3564)ggG>ggA	p.G1188G	OBSL1_ENST00000265317.5_Silent_p.G179G|OBSL1_ENST00000265318.4_Silent_p.G1096G|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Silent_p.G1188G|OBSL1_ENST00000603926.1_Silent_p.G1188G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1188	Ig-like 10.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCACTGGCTCCCCAGGGGCCA	0.642																																						uc010fwk.2		NA																	0					0						c.(3562-3564)GGG>GGA		obscurin-like 1							25.0	29.0	28.0					2																	220422771		1985	4145	6130	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220422771C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3564G>A	2.37:g.220422771C>T						OBSL1_uc002vmh.1_Silent_p.G179G|OBSL1_uc010zli.1_Silent_p.G87G|OBSL1_uc010fwl.1_Silent_p.G663G	p.G1188G	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	11	3621	-		Renal(207;0.0376)	1188			Ig-like 10.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.3564G>A	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	0.354	-0.943423	0.02322	.	.	ENSG00000124006	ENST00000456147	T	0.80653	-1.4	4.16	0.997	0.19851	.	.	.	.	.	T	0.80182	0.4576	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76429	-0.2962	6	0.72032	D	0.01	.	4.7623	0.13113	0.1529:0.6132:0.1482:0.0857	.	.	.	.	E	182	ENSP00000403665:G182E	ENSP00000403665:G182E	G	-	2	0	OBSL1	220131015	0.253000	0.23982	0.997000	0.53966	0.074000	0.17049	-0.263000	0.08670	0.332000	0.23536	-0.657000	0.03884	GGG		0.642	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			5	26	0	0	0	0	5	26				
EPHA4	2043	broad.mit.edu	37	2	222301166	222301166	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:222301166T>C	ENST00000281821.2	-	13	2340	c.2299A>G	c.(2299-2301)Atg>Gtg	p.M767V	EPHA4_ENST00000409938.1_Missense_Mutation_p.M767V|EPHA4_ENST00000392071.4_Missense_Mutation_p.M716V|EPHA4_ENST00000409854.1_Missense_Mutation_p.M767V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	767	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACTCGGGACATGCCAAAATCA	0.488																																						uc002vmq.2		NA																	0				lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(2299-2301)ATG>GTG		ephrin receptor EphA4 precursor							109.0	90.0	97.0					2																	222301166		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222301166T>C	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2299A>G	2.37:g.222301166T>C	ENSP00000281821:p.Met767Val					EPHA4_uc002vmr.2_Missense_Mutation_p.M767V|EPHA4_uc010zlm.1_Missense_Mutation_p.M708V|EPHA4_uc010zln.1_Missense_Mutation_p.M767V	p.M767V	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	13	2341	-		Renal(207;0.0183)	767			Protein kinase.|Cytoplasmic (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2299A>G	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884209	0.51908	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	6.04	6.04	0.98038	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80544	0.4643	L	0.37800	1.135	0.80722	D	1	B	0.22080	0.064	B	0.32149	0.141	T	0.77536	-0.2551	10	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	767	P54764	EPHA4_HUMAN	V	767;767;767;716	ENSP00000281821:M767V;ENSP00000386276:M767V;ENSP00000386829:M767V;ENSP00000375923:M716V	ENSP00000281821:M767V	M	-	1	0	EPHA4	222009410	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.060000	0.64312	2.317000	0.78254	0.460000	0.39030	ATG		0.488	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			20	23	0	0	0	0	20	23				
EPHA4	2043	broad.mit.edu	37	2	222308288	222308288	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:222308288G>A	ENST00000281821.2	-	10	1854	c.1813C>T	c.(1813-1815)Ccc>Tcc	p.P605S	EPHA4_ENST00000409938.1_Missense_Mutation_p.P605S|EPHA4_ENST00000392071.4_Missense_Mutation_p.P554S|EPHA4_ENST00000409854.1_Missense_Mutation_p.P605S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	605					adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCTTGGTTGGGATCTTCGTAC	0.398																																						uc002vmq.2		NA																	0				lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(1813-1815)CCC>TCC		ephrin receptor EphA4 precursor							164.0	148.0	153.0					2																	222308288		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222308288G>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1813C>T	2.37:g.222308288G>A	ENSP00000281821:p.Pro605Ser					EPHA4_uc002vmr.2_Missense_Mutation_p.P605S|EPHA4_uc010zlm.1_Missense_Mutation_p.P546S|EPHA4_uc010zln.1_Missense_Mutation_p.P605S	p.P605S	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	10	1855	-		Renal(207;0.0183)	605			Cytoplasmic (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1813C>T	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	34	5.350218	0.95830	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.96	5.96	0.96718	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84097	0.0393	10	0.87932	D	0	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	605	P54764	EPHA4_HUMAN	S	605;605;605;554	ENSP00000281821:P605S;ENSP00000386276:P605S;ENSP00000386829:P605S;ENSP00000375923:P554S	ENSP00000281821:P605S	P	-	1	0	EPHA4	222016532	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	CCC		0.398	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			26	43	0	0	0	0	26	43				
WDFY1	57590	broad.mit.edu	37	2	224760271	224760271	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:224760271C>A	ENST00000233055.4	-	7	777	c.675G>T	c.(673-675)atG>atT	p.M225I		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	225						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CGATGTCCCACATGATGATGC	0.552																																						uc002vnq.2		NA																	0				lung(1)	1						c.(673-675)ATG>ATT		WD repeat and FYVE domain containing 1							128.0	108.0	115.0					2																	224760271		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224760271C>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.675G>T	2.37:g.224760271C>A	ENSP00000233055:p.Met225Ile						p.M225I	NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	7	726	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	225			WD 5.		Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.675G>T	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461940	0.63513	.	.	ENSG00000085449	ENST00000233055;ENST00000429915	T;T	0.52754	0.65;0.65	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.039450	0.85682	D	0.000000	T	0.22166	0.0534	N	0.01789	-0.72	0.80722	D	1	B	0.26445	0.149	B	0.25405	0.06	T	0.18178	-1.0345	10	0.22706	T	0.39	-25.5444	12.8605	0.57911	0.0:0.9256:0.0:0.0744	.	225	Q8IWB7	WDFY1_HUMAN	I	225;182	ENSP00000233055:M225I;ENSP00000395416:M182I	ENSP00000233055:M225I	M	-	3	0	WDFY1	224468515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.618000	0.67722	2.630000	0.89119	0.491000	0.48974	ATG		0.552	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		11	61	1	0	6.43e-13	6.63e-13	11	61				
COL4A4	1286	broad.mit.edu	37	2	227985823	227985823	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:227985823G>A	ENST00000396625.3	-	5	441	c.234C>T	c.(232-234)ccC>ccT	p.P78P	COL4A4_ENST00000329662.7_Silent_p.P78P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	78	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGCTCCCAGGGGTCCAATTG	0.547																																						uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(232-234)CCC>CCT		alpha 4 type IV collagen precursor							48.0	48.0	48.0					2																	227985823		1824	4072	5896	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227985823G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.234C>T	2.37:g.227985823G>A							p.P78P	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	5	888	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	78			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.234C>T	CCDS42828.1																																																																																				0.547	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		6	32	0	0	0	0	6	32				
COL4A3	1285	broad.mit.edu	37	2	228172461	228172461	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:228172461G>A	ENST00000396578.3	+	48	4450	c.4288G>A	c.(4288-4290)Gga>Aga	p.G1430R	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1430	Epitope recognized by Goodpasture antibodies.|Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGTTTGAAAGGAAAACGTGG	0.433																																						uc002vom.1		NA																	0				skin(2)|ovary(1)	3						c.(4288-4290)GGA>AGA		alpha 3 type IV collagen isoform 1 precursor							108.0	105.0	106.0					2																	228172461		1961	4162	6123	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228172461G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4288G>A	2.37:g.228172461G>A	ENSP00000379823:p.Gly1430Arg					COL4A3_uc002von.1_Missense_Mutation_p.G1430R|COL4A3_uc002voo.1_Missense_Mutation_p.G1430R|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR	p.G1430R	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	48	4450	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1430			Triple-helical region.|Epitope recognized by Goodpasture antibodies.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.4288G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546025	0.65198	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000315699	D	0.99637	-6.29	5.91	5.03	0.67393	.	0.102964	0.43260	N	0.000588	D	0.99600	0.9855	H	0.98276	4.19	0.80722	D	1	P;P;P	0.48350	0.889;0.889;0.909	B;B;P	0.47015	0.275;0.399;0.534	D	0.97587	1.0114	10	0.87932	D	0	.	14.9995	0.71462	0.0682:0.0:0.9318:0.0	.	1430;1430;1430	Q01955-4;Q01955-2;Q01955	.;.;CO4A3_HUMAN	R	1430	ENSP00000379823:G1430R	ENSP00000323334:G1430R	G	+	1	0	COL4A3	227880705	1.000000	0.71417	0.971000	0.41717	0.709000	0.40893	8.833000	0.92089	1.510000	0.48803	0.655000	0.94253	GGA		0.433	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		16	66	0	0	0	0	16	66				
AGFG1	3267	broad.mit.edu	37	2	228398379	228398379	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:228398379C>T	ENST00000310078.8	+	7	1189	c.929C>T	c.(928-930)gCt>gTt	p.A310V	AGFG1_ENST00000409171.1_Missense_Mutation_p.A310V|AGFG1_ENST00000373671.3_Missense_Mutation_p.A270V|AGFG1_ENST00000409315.1_Missense_Mutation_p.A310V|AGFG1_ENST00000409979.2_Missense_Mutation_p.A334V	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	310					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						ACAGCATCAGCTGTTAGTAAA	0.398																																						uc002vpc.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(928-930)GCT>GTT		HIV-1 Rev binding protein isoform 2							93.0	90.0	91.0					2																	228398379		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228398379C>T		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.929C>T	2.37:g.228398379C>T	ENSP00000312059:p.Ala310Val					AGFG1_uc002vpd.2_Missense_Mutation_p.A334V|AGFG1_uc002vpe.2_Missense_Mutation_p.A310V|AGFG1_uc002vpf.2_Missense_Mutation_p.A270V	p.A310V	NM_004504	NP_004495	P52594	AGFG1_HUMAN			7	1179	+			310					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.929C>T	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126711	0.56721	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.25085	1.84;1.84;2.01;1.82;1.84	5.14	5.14	0.70334	.	0.297715	0.35615	N	0.003093	T	0.18383	0.0441	N	0.22421	0.69	0.25265	N	0.989565	B;B;B;B	0.18741	0.002;0.013;0.03;0.008	B;B;B;B	0.21151	0.004;0.013;0.033;0.006	T	0.11792	-1.0573	10	0.15952	T	0.53	.	15.7193	0.77694	0.0:0.8634:0.1366:0.0	.	270;310;334;310	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	V	334;319;310;310;270;310;232	ENSP00000387282:A334V;ENSP00000312059:A310V;ENSP00000387154:A310V;ENSP00000362775:A270V;ENSP00000387218:A310V	ENSP00000312059:A310V	A	+	2	0	AGFG1	228106623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.812000	0.47994	2.395000	0.81488	0.655000	0.94253	GCT		0.398	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		31	51	0	0	0	0	31	51				
SPHKAP	80309	broad.mit.edu	37	2	228883697	228883697	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:228883697G>A	ENST00000392056.3	-	7	1919	c.1873C>T	c.(1873-1875)Ctg>Ttg	p.L625L	SPHKAP_ENST00000344657.5_Silent_p.L625L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	625						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTAAAACCAGAGCAGCCTCC	0.502																																						uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(1873-1875)CTG>TTG		sphingosine kinase type 1-interacting protein							56.0	55.0	55.0					2																	228883697		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228883697G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1873C>T	2.37:g.228883697G>A						SPHKAP_uc002vpp.2_Silent_p.L625L|SPHKAP_uc010zlx.1_Silent_p.L625L	p.L625L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1920	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	625					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.1873C>T	CCDS46537.1																																																																																				0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		7	28	0	0	0	0	7	28				
NEU2	4759	broad.mit.edu	37	2	233899488	233899488	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:233899488C>T	ENST00000233840.3	+	2	864	c.864C>T	c.(862-864)tcC>tcT	p.S288S		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	288					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GGCCTGGCTCCCCAGCCCAGT	0.697																																						uc010zmn.1		NA																	0					0						c.(862-864)TCC>TCT		neuraminidase 2							24.0	29.0	27.0					2																	233899488		2197	4285	6482	SO:0001819	synonymous_variant	4759						exo-alpha-sialidase activity	g.chr2:233899488C>T	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.864C>T	2.37:g.233899488C>T							p.S288S	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	864	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	288					Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	c.864C>T	CCDS2501.1																																																																																				0.697	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		9	46	0	0	0	0	9	46				
ARL4C	10123	broad.mit.edu	37	2	235404769	235404769	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:235404769G>A	ENST00000390645.2	-	1	928	c.462C>T	c.(460-462)acC>acT	p.T154T	ARL4C_ENST00000339728.3_Silent_p.T154T	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	154					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GGACGTGATAGGTGGTGGCCG	0.622																																					Esophageal Squamous(157;1837 2534 13028 22831)	uc002vvn.2		NA																	0				skin(1)	1						c.(460-462)ACC>ACT		ADP-ribosylation factor-like 4C							41.0	46.0	45.0					2																	235404769		2025	4183	6208	SO:0001819	synonymous_variant	10123				endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity	g.chr2:235404769G>A	AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	698	protein-coding gene	gene with protein product		604787	"""ADP-ribosylation factor-like 7"""	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.462C>T	2.37:g.235404769G>A						ARL4C_uc002vvm.3_Silent_p.T154T	p.T154T	NM_005737	NP_005728	P56559	ARL4C_HUMAN		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)	1	925	-		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)	154					Q4A519|Q53R10|Q9BVN1|Q9UQ34	Silent	SNP	ENST00000390645.2	37	c.462C>T	CCDS2512.1																																																																																				0.622	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1			6	32	0	0	0	0	6	32				
AGAP1	116987	broad.mit.edu	37	2	236708049	236708049	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:236708049C>T	ENST00000304032.8	+	8	1420	c.840C>T	c.(838-840)tcC>tcT	p.S280S	AGAP1_ENST00000409538.1_Silent_p.S545S|AGAP1_ENST00000409457.1_Silent_p.S280S|AGAP1_ENST00000336665.5_Silent_p.S280S|AGAP1_ENST00000428334.2_Silent_p.S119S	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	280					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACTATTCCTCCTCCGTTCCAT	0.512																																						uc002vvs.2		NA																	0				ovary(2)|skin(1)	3						c.(838-840)TCC>TCT		centaurin, gamma 2 isoform 1							78.0	73.0	75.0					2																	236708049		2203	4300	6503	SO:0001819	synonymous_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236708049C>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.840C>T	2.37:g.236708049C>T						AGAP1_uc002vvt.2_Silent_p.S280S	p.S280S	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			8	1435	+			280					B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.840C>T	CCDS33408.1																																																																																				0.512	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		17	61	0	0	0	0	17	61				
IQCA1	79781	broad.mit.edu	37	2	237272434	237272434	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:237272434C>T	ENST00000409907.3	-	15	2132	c.1858G>A	c.(1858-1860)Gca>Aca	p.A620T	IQCA1_ENST00000309507.5_Missense_Mutation_p.A617T|IQCA1_ENST00000431676.2_Missense_Mutation_p.A579T	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	620							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTGAAGACTGCATGCAGCATC	0.448																																						uc002vvz.1		NA																	0				ovary(1)	1						c.(1858-1860)GCA>ACA		IQ motif containing with AAA domain 1							154.0	150.0	151.0					2																	237272434		1955	4150	6105	SO:0001583	missense	79781						ATP binding	g.chr2:237272434C>T	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1858G>A	2.37:g.237272434C>T	ENSP00000387347:p.Ala620Thr					IQCA1_uc002vwb.2_Missense_Mutation_p.A628T|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.A579T	p.A620T	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			15	2040	-			620					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.1858G>A	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542834	0.27563	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.88201	-2.35;-2.35;-2.35	4.36	-4.65	0.03339	ATPase, AAA-type, core (1);	1.161770	0.06720	N	0.774685	T	0.79656	0.4483	L	0.33753	1.03	0.09310	N	0.999997	B;B;B	0.27013	0.008;0.166;0.005	B;B;B	0.33121	0.044;0.158;0.02	T	0.65813	-0.6077	10	0.34782	T	0.22	.	1.4775	0.02429	0.2578:0.1413:0.1222:0.4787	.	579;628;620	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	T	620;628;617;579;617	ENSP00000387347:A620T;ENSP00000311951:A617T;ENSP00000407213:A579T	ENSP00000254653:A621T	A	-	1	0	IQCA1	236937173	0.000000	0.05858	0.002000	0.10522	0.509000	0.34042	-0.273000	0.08548	-0.568000	0.06038	0.561000	0.74099	GCA		0.448	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		17	112	0	0	0	0	17	112				
PER2	8864	broad.mit.edu	37	2	239170870	239170871	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:239170870_239170871CC>TT	ENST00000254657.3	-	11	1547_1548	c.1268_1269GG>AA	c.(1267-1269)aGG>aAA	p.R423K	PER2_ENST00000355768.2_Missense_Mutation_p.E388K|PER2_ENST00000440245.1_Missense_Mutation_p.R423K|PER2_ENST00000254658.3_Missense_Mutation_p.E388K	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	423	PAC.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AGGAGATTTTCCTGCTCCATGG	0.594																																						uc002vyc.2		NA																	0				upper_aerodigestive_tract(1)|breast(1)	2						c.(1267-1269)AGG>AAA		period 2																																				SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239170870_239170871CC>TT	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1268_1269delinsTT	2.37:g.239170870_239170871delinsTT	ENSP00000254657:p.Arg423Lys					PER2_uc010znv.1_Missense_Mutation_p.R423K|PER2_uc010znw.1_Missense_Mutation_p.R423K|PER2_uc010fyx.1_Missense_Mutation_p.E388K	p.R423K	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	11	1505_1506	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	423			PAC.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	DNP	ENST00000254657.3	37	c.1268_1269GG>AA	CCDS2528.1																																																																																				0.594	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		13	43	0	0	0	0	13	43				
HDLBP	3069	broad.mit.edu	37	2	242178142	242178142	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:242178142G>A	ENST00000391975.1	-	20	2898	c.2671C>T	c.(2671-2673)Ccc>Tcc	p.P891S	HDLBP_ENST00000427183.2_Missense_Mutation_p.P858S|HDLBP_ENST00000391976.2_Missense_Mutation_p.P891S|HDLBP_ENST00000310931.4_Missense_Mutation_p.P891S	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	891	KH 11. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAACCTTTGGGGCCCATGACA	0.473																																						uc002waz.2		NA																	0				breast(3)|skin(1)	4						c.(2671-2673)CCC>TCC		high density lipoprotein binding protein							210.0	230.0	223.0					2																	242178142		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242178142G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2671C>T	2.37:g.242178142G>A	ENSP00000375836:p.Pro891Ser					HDLBP_uc002wba.2_Missense_Mutation_p.P891S|HDLBP_uc002wbb.2_Missense_Mutation_p.P843S	p.P891S	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	20	2899	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	891			KH 11.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2671C>T	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.973604|2.973604	0.53720|0.53720	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54	6.05|6.05	6.05|6.05	0.98169|0.98169	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.38321|0.38321	0.1036|0.1036	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|B;P	.|0.38535	.|0.057;0.635	.|B;B	.|0.43194	.|0.243;0.411	T|T	0.05468|0.05468	-1.0883|-1.0883	6|10	.|0.10902	.|T	.|0.67	-25.2062|-25.2062	20.6086|20.6086	0.99469|0.99469	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|858;891	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	L|S	699|891;891;891;858	.|ENSP00000375836:P891S;ENSP00000375837:P891S;ENSP00000312042:P891S;ENSP00000399139:P858S	.|ENSP00000312042:P891S	P|P	-|-	2|1	0|0	HDLBP|HDLBP	241826815|241826815	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	7.773000|7.773000	0.85462|0.85462	2.880000|2.880000	0.98712|0.98712	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.473	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		65	317	0	0	0	0	65	317				
THAP4	51078	broad.mit.edu	37	2	242576370	242576370	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:242576370G>C	ENST00000407315.1	-	1	494	c.63C>G	c.(61-63)gcC>gcG	p.A21A	ATG4B_ENST00000402096.1_5'Flank|ATG4B_ENST00000396411.3_5'Flank|ATG4B_ENST00000405546.3_5'Flank|ATG4B_ENST00000404914.3_5'Flank|ATG4B_ENST00000474739.2_5'Flank	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	21							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGAAGGAGACGGCGCGCTTCT	0.776																																						uc002wbt.2		NA																	0					0						c.(61-63)GCC>GCG		THAP domain containing 4 isoform 1							10.0	9.0	9.0					2																	242576370		2107	4165	6272	SO:0001819	synonymous_variant	51078						DNA binding|metal ion binding	g.chr2:242576370G>C	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.63C>G	2.37:g.242576370G>C						ATG4B_uc002wbu.2_5'Flank|ATG4B_uc002wbv.2_5'Flank|ATG4B_uc002wbw.2_5'Flank|ATG4B_uc010zox.1_5'Flank|ATG4B_uc010zoy.1_5'Flank|ATG4B_uc010fzp.2_5'Flank	p.A21A	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	1	286	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	21			THAP-type.		Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	c.63C>G	CCDS2551.1																																																																																				0.776	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		6	8	0	0	0	0	6	8				
DEFB127	140850	broad.mit.edu	37	20	139628	139628	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:139628T>G	ENST00000382388.3	+	2	338	c.263T>G	c.(262-264)aTa>aGa	p.I88R		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	88					defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GTTACAATAATAGAAAATTTC	0.363																																						uc002wcy.1		NA																	0					0						c.(262-264)ATA>AGA		defensin, beta 127 preproprotein							72.0	65.0	68.0					20																	139628		2203	4300	6503	SO:0001583	missense	140850				defense response to bacterium|innate immune response	extracellular region		g.chr20:139628T>G	AY358796	CCDS12991.1	20p13	2008-02-01	2002-05-09	2002-05-10	ENSG00000088782	ENSG00000088782		"""Defensins, beta"""	16206	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 73"""	C20orf73		11854508	Standard	NM_139074		Approved	bA530N10.2, DEF-27	uc002wcy.2	Q9H1M4	OTTHUMG00000031617	ENST00000382388.3:c.263T>G	20.37:g.139628T>G	ENSP00000371825:p.Ile88Arg						p.I88R	NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	263	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	88					Q14DW7	Missense_Mutation	SNP	ENST00000382388.3	37	c.263T>G	CCDS12991.1	.	.	.	.	.	.	.	.	.	.	T	3.791	-0.043700	0.07452	.	.	ENSG00000088782	ENST00000382388	T	0.18174	2.23	3.11	-6.22	0.02058	.	3.044080	0.01355	N	0.012036	T	0.10809	0.0264	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16660	-1.0395	9	0.87932	D	0	1.5358	0.8491	0.01168	0.3472:0.2739:0.107:0.2719	.	88	Q9H1M4	DB127_HUMAN	R	88	ENSP00000371825:I88R	ENSP00000371825:I88R	I	+	2	0	DEFB127	87628	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.867000	0.01646	-3.026000	0.00268	-1.843000	0.00578	ATA		0.363	DEFB127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077429.1	NM_139074		21	31	0	0	0	0	21	31				
PDYN	5173	broad.mit.edu	37	20	1961100	1961100	+	Missense_Mutation	SNP	G	G	A	rs201486601		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:1961100G>A	ENST00000217305.2	-	4	859	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R212W|PDYN_ENST00000539905.1_Missense_Mutation_p.R212W	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	212			R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect; dbSNP:rs201486601). {ECO:0000269|PubMed:21035104}.		cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGAATGCGCCGCAAGAAGCCC	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16226	0.0		0.0	False		,,,				2504	0.0					uc010gaj.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(634-636)CGG>TGG		beta-neoendorphin-dynorphin preproprotein							102.0	113.0	109.0					20																	1961100		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961100G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.634C>T	20.37:g.1961100G>A	ENSP00000217305:p.Arg212Trp					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R212W|PDYN_uc010zpt.1_Missense_Mutation_p.R57W	p.R212W	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	876	-			212		R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect).			A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.634C>T	CCDS13023.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.2	3.944983	0.73672	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.85556	-2.0;-2.0;-2.0	5.0	-3.04	0.05412	.	0.000000	0.85682	D	0.000000	D	0.92378	0.7581	M	0.89601	3.045	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.91682	0.5359	10	0.59425	D	0.04	-24.1261	16.3704	0.83355	0.0:0.0:0.2532:0.7468	.	212	P01213	PDYN_HUMAN	W	212	ENSP00000440185:R212W;ENSP00000442259:R212W;ENSP00000217305:R212W	ENSP00000217305:R212W	R	-	1	2	PDYN	1909100	1.000000	0.71417	0.822000	0.32727	0.984000	0.73092	0.612000	0.24283	-0.750000	0.04740	0.313000	0.20887	CGG		0.587	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			26	149	0	0	0	0	26	149				
CPXM1	56265	broad.mit.edu	37	20	2779447	2779448	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:2779447_2779448GG>AA	ENST00000380605.2	-	2	328_329	c.264_265CC>TT	c.(262-267)acCCca>acTTca	p.P89S		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	89					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTCACCAGTGGGGTGGGGCGAG	0.574																																						uc002wgu.2		NA																	0				ovary(2)|skin(2)	4						c.(262-267)ACCCCA>ACTTCA		carboxypeptidase X, member 1 precursor																																				SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2779447_2779448GG>AA	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.264_265delinsAA	20.37:g.2779447_2779448delinsAA	ENSP00000369979:p.Pro89Ser					CPXM1_uc010gas.2_Missense_Mutation_p.P89S	p.P89S	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			2	328_329	-			89					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	DNP	ENST00000380605.2	37	c.264_265CC>TT	CCDS13033.1																																																																																				0.574	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		48	117	0	0	0	0	48	117				
SLC4A11	83959	broad.mit.edu	37	20	3214206	3214206	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3214206G>A	ENST00000380056.3	-	6	778	c.731C>T	c.(730-732)tCc>tTc	p.S244F	SLC4A11_ENST00000380059.3_Missense_Mutation_p.S271F|SLC4A11_ENST00000539553.2_Missense_Mutation_p.S228F	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	244					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AACCTCACAGGAATTCTCCCC	0.642																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2		NA																	0				ovary(1)	1						c.(730-732)TCC>TTC		solute carrier family 4 member 11							98.0	87.0	91.0					20																	3214206		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3214206G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.731C>T	20.37:g.3214206G>A	ENSP00000369396:p.Ser244Phe					SLC4A11_uc010zqe.1_Missense_Mutation_p.S271F|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.S228F	p.S244F	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			6	779	-			244			Cytoplasmic (Potential).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.731C>T	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287208	0.80803	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.27	5.27	0.74061	Phosphotransferase system, phosphoenolpyruvate-dependent sugar EIIA 2 (2);Phosphotransferase/anion transporter (1);	0.190012	0.47852	D	0.000211	D	0.94006	0.8080	L	0.55481	1.735	0.58432	D	0.99999	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.71184	0.93;0.972;0.958	D	0.94215	0.7462	10	0.59425	D	0.04	.	18.4761	0.90793	0.0:0.0:1.0:0.0	.	228;271;244	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	F	271;244;228;228	ENSP00000369399:S271F;ENSP00000369396:S244F;ENSP00000441370:S228F;ENSP00000404271:S228F	ENSP00000369396:S244F	S	-	2	0	SLC4A11	3162206	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.585000	0.74062	2.461000	0.83175	0.462000	0.41574	TCC		0.642	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			13	79	0	0	0	0	13	79				
ADAM33	80332	broad.mit.edu	37	20	3655679	3655679	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3655679G>A	ENST00000356518.2	-	4	569	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	ADAM33_ENST00000379861.4_Missense_Mutation_p.H110Y|ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000350009.2_Missense_Mutation_p.H110Y	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	110					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CTCACCGTGTGGTTGGGGGCC	0.617																																						uc002wit.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(328-330)CAC>TAC		ADAM metallopeptidase domain 33 isoform alpha							51.0	53.0	52.0					20																	3655679		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3655679G>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.328C>T	20.37:g.3655679G>A	ENSP00000348912:p.His110Tyr					ADAM33_uc002wir.1_Missense_Mutation_p.H110Y|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.H110Y|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.H109Y|ADAM33_uc010zqg.1_Missense_Mutation_p.H109Y|ADAM33_uc010zqh.1_Missense_Mutation_p.H110Y	p.H110Y	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			4	415	-			110			Extracellular (Potential).		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.328C>T	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	G	7.103	0.574522	0.13623	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000360630;ENST00000444535;ENST00000439201;ENST00000358035;ENST00000322570	T;T;T	0.06142	3.34;3.34;3.34	4.61	2.66	0.31614	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.08980	0.0222	L	0.46741	1.465	0.45378	D	0.998362	P;P;B;P;P;P	0.49635	0.926;0.548;0.012;0.633;0.683;0.683	P;B;B;B;B;B	0.53593	0.73;0.328;0.011;0.131;0.207;0.207	T	0.20571	-1.0271	9	0.02654	T	1	.	9.276	0.37700	0.1774:0.0:0.8226:0.0	.	110;109;109;110;110;110	B4DTZ3;B4E1Y6;Q7Z7E1;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;.;ADA33_HUMAN;.	Y	110;110;110;109;110;110;110;109	ENSP00000348912:H110Y;ENSP00000369190:H110Y;ENSP00000322550:H110Y	ENSP00000318839:H109Y	H	-	1	0	ADAM33	3603679	0.975000	0.34042	0.983000	0.44433	0.443000	0.32047	1.137000	0.31479	0.565000	0.29255	0.561000	0.74099	CAC		0.617	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		17	101	0	0	0	0	17	101				
SIGLEC1	6614	broad.mit.edu	37	20	3672822	3672822	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3672822G>A	ENST00000344754.4	-	16	4057	c.4058C>T	c.(4057-4059)tCc>tTc	p.S1353F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1353F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1353	Ig-like C2-type 14.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTCCCGGAAGGAGGACAGGAC	0.612																																						uc002wja.2		NA																	0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(4057-4059)TCC>TTC		sialoadhesin precursor							43.0	44.0	44.0					20																	3672822		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3672822G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4058C>T	20.37:g.3672822G>A	ENSP00000341141:p.Ser1353Phe					SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.S1353F	p.S1353F	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			16	4058	-			1353			Ig-like C2-type 14.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.4058C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358166	0.24598	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.24723	1.86;1.84	5.5	3.42	0.39159	.	0.000000	0.34411	N	0.003981	T	0.25158	0.0611	L	0.54908	1.71	0.35032	D	0.758907	B;B	0.33494	0.414;0.361	B;B	0.38378	0.272;0.178	T	0.31724	-0.9933	10	0.49607	T	0.09	.	6.7598	0.23534	0.2282:0.0:0.7718:0.0	.	1353;1353	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	F	1353	ENSP00000341141:S1353F;ENSP00000202578:S1353F	ENSP00000202578:S1353F	S	-	2	0	SIGLEC1	3620822	1.000000	0.71417	0.979000	0.43373	0.250000	0.25880	2.325000	0.43840	1.227000	0.43598	0.655000	0.94253	TCC		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		17	51	0	0	0	0	17	51				
SIGLEC1	6614	broad.mit.edu	37	20	3677377	3677377	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3677377G>A	ENST00000344754.4	-	10	2538	c.2539C>T	c.(2539-2541)Cat>Tat	p.H847Y	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H847Y	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	847	Ig-like C2-type 8.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AACCGACCATGGGATGGGACC	0.622																																						uc002wja.2		NA																	0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(2539-2541)CAT>TAT		sialoadhesin precursor							67.0	66.0	67.0					20																	3677377		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3677377G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2539C>T	20.37:g.3677377G>A	ENSP00000341141:p.His847Tyr					SIGLEC1_uc002wiz.3_Missense_Mutation_p.H847Y	p.H847Y	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			10	2539	-			847			Ig-like C2-type 8.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.2539C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	8.356	0.832042	0.16820	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.23552	1.93;1.9	4.84	2.77	0.32553	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.343560	0.05222	N	0.508603	T	0.33760	0.0874	L	0.40543	1.245	0.09310	N	1	B;B	0.33238	0.403;0.351	B;B	0.44133	0.442;0.332	T	0.46062	-0.9218	10	0.52906	T	0.07	.	10.8746	0.46904	0.0:0.4007:0.5993:0.0	.	847;847	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	Y	847	ENSP00000341141:H847Y;ENSP00000202578:H847Y	ENSP00000202578:H847Y	H	-	1	0	SIGLEC1	3625377	0.026000	0.19158	0.001000	0.08648	0.002000	0.02628	2.091000	0.41691	1.253000	0.44018	-0.165000	0.13383	CAT		0.622	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		27	79	0	0	0	0	27	79				
SIGLEC1	6614	broad.mit.edu	37	20	3679949	3679949	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3679949G>A	ENST00000344754.4	-	7	1685	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	SIGLEC1_ENST00000202578.4_Silent_p.L562L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	562	Ig-like C2-type 5.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGCCGCGGGGAGCAGGAGGC	0.672																																						uc002wja.2		NA																	0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(1684-1686)CTC>CTT		sialoadhesin precursor							28.0	23.0	25.0					20																	3679949		2202	4298	6500	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3679949G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1686C>T	20.37:g.3679949G>A						SIGLEC1_uc002wiz.3_Silent_p.L562L	p.L562L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			7	1686	-			562			Ig-like C2-type 5.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.1686C>T	CCDS13060.1																																																																																				0.672	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		3	23	0	0	0	0	3	23				
SIGLEC1	6614	broad.mit.edu	37	20	3684712	3684712	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3684712G>A	ENST00000344754.4	-	4	732	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L245F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	245	Ig-like C2-type 2.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GAGGGGCTGAGGAGGATCTTC	0.577																																						uc002wja.2		NA																	0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(733-735)CTC>TTC		sialoadhesin precursor							71.0	64.0	67.0					20																	3684712		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3684712G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.733C>T	20.37:g.3684712G>A	ENSP00000341141:p.Leu245Phe					SIGLEC1_uc002wiz.3_Missense_Mutation_p.L245F|SIGLEC1_uc002wjc.2_Missense_Mutation_p.L156F	p.L245F	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			4	733	-			245			Ig-like C2-type 2.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.733C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207962	0.39003	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.20738	2.05;2.05	5.16	3.02	0.34903	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.253362	0.20899	N	0.083664	T	0.14356	0.0347	L	0.36672	1.1	0.30183	N	0.800251	B;B;B	0.27625	0.072;0.183;0.072	B;B;B	0.30716	0.046;0.119;0.066	T	0.05338	-1.0891	10	0.23302	T	0.38	.	5.9856	0.19432	0.0937:0.0:0.6124:0.2939	.	245;245;245	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	F	245	ENSP00000341141:L245F;ENSP00000202578:L245F	ENSP00000202578:L245F	L	-	1	0	SIGLEC1	3632712	0.009000	0.17119	0.998000	0.56505	0.955000	0.61496	0.019000	0.13444	2.398000	0.81561	0.655000	0.94253	CTC		0.577	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		18	65	0	0	0	0	18	65				
PROKR2	128674	broad.mit.edu	37	20	5294626	5294627	+	Missense_Mutation	DNP	GG	GG	AA	rs144778137	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5294626_5294627GG>AA	ENST00000217270.3	-	1	388_389	c.389_390CC>TT	c.(388-390)tCC>tTT	p.S130F	PROKR2_ENST00000546004.1_Missense_Mutation_p.S130F	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	130					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGTAGTTGACGGAGGCACAGAG	0.609										HNSCC(71;0.22)																												uc010zqw.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(388-390)TCC>TTT		prokineticin receptor 2																																				SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294626_5294627GG>AA	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.389_390delinsAA	20.37:g.5294626_5294627delinsAA	ENSP00000217270:p.Ser130Phe	HNSCC(71;0.22)				PROKR2_uc010zqx.1_Missense_Mutation_p.S130F|PROKR2_uc010zqy.1_Missense_Mutation_p.S130F|uc002wly.1_5'Flank	p.S130F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	389_390	-			130			Extracellular (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	DNP	ENST00000217270.3	37	c.389_390CC>TT	CCDS13089.1																																																																																				0.609	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		12	55	0	0	0	0	12	55				
GPCPD1	56261	broad.mit.edu	37	20	5550825	5550825	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5550825G>A	ENST00000379019.4	-	12	1329	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	373	GP-PDE.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GTAAGATCATGATATACCACG	0.353																																						uc002wme.3		NA																	0					0						c.(1117-1119)CAT>TAT		hypothetical protein LOC56261							92.0	86.0	88.0					20																	5550825		2203	4300	6503	SO:0001583	missense	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5550825G>A		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1117C>T	20.37:g.5550825G>A	ENSP00000368305:p.His373Tyr					GPCPD1_uc002wmd.3_Missense_Mutation_p.H192Y	p.H373Y	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN			12	1330	-			373			GDPD.		D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	c.1117C>T	CCDS13090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.813745|3.813745	0.70912|0.70912	.|.	.|.	ENSG00000125772|ENSG00000125772	ENST00000378992;ENST00000379019|ENST00000418646	T|.	0.65364|.	-0.15|.	5.2|5.2	5.2|5.2	0.72013|0.72013	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87815|0.87815	0.6272|0.6272	H|H	0.95365|0.95365	3.66|3.66	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.91296|0.91296	0.5063|0.5063	10|5	0.27082|.	T|.	0.32|.	-24.6256|-24.6256	19.0913|19.0913	0.93228|0.93228	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	373|.	Q9NPB8|.	GPCP1_HUMAN|.	Y|L	97;373|71	ENSP00000368305:H373Y|.	ENSP00000368277:H97Y|.	H|S	-|-	1|2	0|0	GPCPD1|GPCPD1	5498825|5498825	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.781000|9.781000	0.99029|0.99029	2.595000|2.595000	0.87683|0.87683	0.591000|0.591000	0.81541|0.81541	CAT|TCA		0.353	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		10	96	0	0	0	0	10	96				
CHGB	1114	broad.mit.edu	37	20	5903905	5903905	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5903905C>T	ENST00000378961.4	+	4	1319	c.1115C>T	c.(1114-1116)gCt>gTt	p.A372V		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	372						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAATACAGGGCTCCAAGACCT	0.507																																						uc002wmg.2		NA																	0				breast(3)|skin(2)|ovary(1)	6						c.(1114-1116)GCT>GTT		chromogranin B precursor							108.0	107.0	108.0					20																	5903905		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903905C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1115C>T	20.37:g.5903905C>T	ENSP00000368244:p.Ala372Val					CHGB_uc010zqz.1_Missense_Mutation_p.A55V	p.A372V	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	1421	+			372					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1115C>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241461	0.58995	.	.	ENSG00000089199	ENST00000378961	T	0.01918	4.56	5.57	2.23	0.28157	.	0.331535	0.26563	N	0.023677	T	0.02848	0.0085	M	0.67953	2.075	0.09310	N	1	P	0.38551	0.636	B	0.31946	0.138	T	0.39187	-0.9626	10	0.59425	D	0.04	-4.9651	7.4181	0.27057	0.5453:0.3667:0.0:0.088	.	372	P05060	SCG1_HUMAN	V	372	ENSP00000368244:A372V	ENSP00000368244:A372V	A	+	2	0	CHGB	5851905	0.048000	0.20356	0.041000	0.18516	0.644000	0.38419	0.327000	0.19663	0.655000	0.30866	0.563000	0.77884	GCT		0.507	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		51	80	0	0	0	0	51	80				
JAG1	182	broad.mit.edu	37	20	10630991	10630991	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:10630991G>A	ENST00000254958.5	-	9	1653	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	JAG1_ENST00000423891.2_Missense_Mutation_p.P221S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	380	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGTTATTAGGAGAACAGTCA	0.458									Alagille Syndrome																													uc002wnw.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(1138-1140)CCT>TCT		jagged 1 precursor							45.0	43.0	44.0					20																	10630991		2203	4300	6503	SO:0001583	missense	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10630991G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1138C>T	20.37:g.10630991G>A	ENSP00000254958:p.Pro380Ser					JAG1_uc010gcd.1_5'UTR	p.P380S	NM_000214	NP_000205	P78504	JAG1_HUMAN			9	1654	-			380			Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.1138C>T	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	G	6.124	0.391097	0.11581	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.91351	-2.83;-2.83	5.85	5.85	0.93711	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	N	0.02315	-0.6	0.80722	D	1	B	0.23806	0.091	B	0.26517	0.07	T	0.75431	-0.3320	10	0.02654	T	1	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	380	P78504	JAG1_HUMAN	S	380;221	ENSP00000254958:P380S;ENSP00000389519:P221S	ENSP00000254958:P380S	P	-	1	0	JAG1	10578991	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.422000	0.73357	2.767000	0.95098	0.655000	0.94253	CCT		0.458	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		21	27	0	0	0	0	21	27				
BFSP1	631	broad.mit.edu	37	20	17475391	17475391	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:17475391C>T	ENST00000377873.3	-	8	1365	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	BFSP1_ENST00000544874.1_Silent_p.G303G|BFSP1_ENST00000377868.2_Silent_p.G317G|BFSP1_ENST00000536626.1_Silent_p.G303G	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	442	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TGTATAGTTTCCCAAAGCCTT	0.507																																						uc002wpo.2		NA																	0				central_nervous_system(1)	1						c.(1324-1326)GGG>GGA		filensin isoform 1							125.0	124.0	124.0					20																	17475391		2203	4300	6503	SO:0001819	synonymous_variant	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17475391C>T	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1326G>A	20.37:g.17475391C>T						BFSP1_uc002wpp.2_Silent_p.G317G|BFSP1_uc010zrn.1_Silent_p.G303G|BFSP1_uc010zro.1_Silent_p.G303G	p.G442G	NM_001195	NP_001186	Q12934	BFSP1_HUMAN			8	1365	-			442			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Silent	SNP	ENST00000377873.3	37	c.1326G>A	CCDS13126.1																																																																																				0.507	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		34	202	0	0	0	0	34	202				
SLC24A3	57419	broad.mit.edu	37	20	19665797	19665797	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:19665797C>T	ENST00000328041.6	+	12	1313	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	372					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAGGTGGCCATCAAAATCC	0.537																																						uc002wrl.2		NA																	0				ovary(1)	1						c.(1114-1116)GCC>GCT		solute carrier family 24							92.0	91.0	91.0					20																	19665797		2203	4300	6503	SO:0001819	synonymous_variant	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19665797C>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1116C>T	20.37:g.19665797C>T							p.A372A	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN			12	1313	+			372			Cytoplasmic (Potential).		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	ENST00000328041.6	37	c.1116C>T	CCDS13140.1																																																																																				0.537	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		14	115	0	0	0	0	14	115				
CFAP61	26074	broad.mit.edu	37	20	20208964	20208964	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:20208964C>T	ENST00000245957.5	+	18	2080	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	C20orf26_ENST00000497372.1_3'UTR|C20orf26_ENST00000389656.3_Silent_p.I24I|C20orf26_ENST00000377309.2_Silent_p.I24I|C20orf26_ENST00000377293.1_Silent_p.I24I	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		668										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATGCCAAGATCATTGTGGTTG	0.333																																						uc002wru.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2002-2004)ATC>ATT		hypothetical protein LOC26074							219.0	202.0	208.0					20																	20208964		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20208964C>T																												ENST00000245957.5:c.2004C>T	20.37:g.20208964C>T						C20orf26_uc010zse.1_Silent_p.I648I|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Silent_p.I24I	p.I668I	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	18	2080	+			668					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.2004C>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	7.662	0.685106	0.14973	.	.	ENSG00000089101	ENST00000431753	.	.	.	5.76	-5.44	0.02624	.	.	.	.	.	T	0.65112	0.2660	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67102	-0.5755	4	.	.	.	.	16.3681	0.83343	0.0:0.5872:0.0:0.4128	.	.	.	.	L	208	.	.	S	+	2	0	C20orf26	20156964	0.939000	0.31865	0.909000	0.35828	0.717000	0.41224	-0.136000	0.10405	-0.917000	0.03813	-0.300000	0.09419	TCA		0.333	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			93	110	0	0	0	0	93	110				
NINL	22981	broad.mit.edu	37	20	25481637	25481637	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:25481637C>T	ENST00000278886.6	-	8	944	c.871G>A	c.(871-873)Gag>Aag	p.E291K	NINL_ENST00000422516.1_Missense_Mutation_p.E291K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	291					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGCCGCTCTCCTCTGGGACC	0.612																																						uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(871-873)GAG>AAG		ninein-like							141.0	92.0	109.0					20																	25481637		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25481637C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.871G>A	20.37:g.25481637C>T	ENSP00000278886:p.Glu291Lys					NINL_uc010gdn.1_Missense_Mutation_p.E291K|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Missense_Mutation_p.E307K	p.E291K	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			8	945	-			291					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.871G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.832791	0.50951	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.38240	1.41;1.15	5.0	4.04	0.47022	.	0.138955	0.46145	D	0.000310	T	0.54464	0.1860	M	0.77103	2.36	0.45791	D	0.998673	D;D	0.63880	0.993;0.989	P;P	0.60789	0.879;0.828	T	0.58601	-0.7608	10	0.62326	D	0.03	-23.1724	10.3166	0.43740	0.3589:0.6411:0.0:0.0	.	291;291	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	K	291	ENSP00000278886:E291K;ENSP00000410431:E291K	ENSP00000278886:E291K	E	-	1	0	NINL	25429637	1.000000	0.71417	0.983000	0.44433	0.133000	0.20885	4.063000	0.57499	1.307000	0.44944	0.563000	0.77884	GAG		0.612	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		11	20	0	0	0	0	11	20				
NINL	22981	broad.mit.edu	37	20	25498400	25498400	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:25498400G>A	ENST00000278886.6	-	3	339	c.266C>T	c.(265-267)tCt>tTt	p.S89F	NINL_ENST00000422516.1_Missense_Mutation_p.S89F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	89					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGATTCCAAAGAACTACTGTC	0.378																																						uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(265-267)TCT>TTT		ninein-like							122.0	106.0	111.0					20																	25498400		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25498400G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.266C>T	20.37:g.25498400G>A	ENSP00000278886:p.Ser89Phe					NINL_uc010gdn.1_Missense_Mutation_p.S89F|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Missense_Mutation_p.S105F	p.S89F	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			3	340	-			89					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.266C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	2.237	-0.374782	0.05034	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.25250	1.81;1.81	4.39	3.36	0.38483	.	0.382438	0.24506	N	0.037939	T	0.10637	0.0260	N	0.13043	0.29	0.32500	N	0.539033	P;P	0.46912	0.617;0.886	B;B	0.36719	0.173;0.231	T	0.06110	-1.0845	10	0.10111	T	0.7	-2.9904	9.3454	0.38104	0.0:0.0:0.6194:0.3806	.	89;89	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	F	89	ENSP00000278886:S89F;ENSP00000410431:S89F	ENSP00000278886:S89F	S	-	2	0	NINL	25446400	1.000000	0.71417	0.135000	0.22099	0.498000	0.33706	5.125000	0.64715	2.264000	0.75181	0.561000	0.74099	TCT		0.378	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		18	40	0	0	0	0	18	40				
ZNF337	26152	broad.mit.edu	37	20	25656044	25656044	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:25656044G>A	ENST00000376436.1	-	4	2419	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.P595L|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.P627L|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	627					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCATACAAAAGGCTGCTTGCC	0.498																																						uc002wva.2		NA																	0					0						c.(1879-1881)CCT>CTT		zinc finger protein 337							99.0	96.0	97.0					20																	25656044		2203	4300	6503	SO:0001583	missense	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25656044G>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1880C>T	20.37:g.25656044G>A	ENSP00000365619:p.Pro627Leu					uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.P595L|ZNF337_uc002wvb.2_Missense_Mutation_p.P627L|ZNF337_uc002wvc.2_Missense_Mutation_p.P627L	p.P627L	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			4	2402	-			627					B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1880C>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	18.38	3.610799	0.66558	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000538750	T;T;T	0.56444	0.46;0.46;0.46	0.942	0.942	0.19525	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44561	0.1299	M	0.70595	2.14	0.37695	D	0.923975	P;P	0.36577	0.558;0.558	B;B	0.28849	0.095;0.095	T	0.54070	-0.8348	9	0.62326	D	0.03	.	7.7835	0.29078	0.0:0.0:1.0:0.0	.	595;627	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	L	627;627;595	ENSP00000365619:P627L;ENSP00000252979:P627L;ENSP00000442181:P595L	ENSP00000252979:P627L	P	-	2	0	ZNF337	25604044	0.890000	0.30428	0.009000	0.14445	0.974000	0.67602	1.541000	0.36126	0.794000	0.33899	0.298000	0.19748	CCT		0.498	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			34	117	0	0	0	0	34	117				
DEFB115	245929	broad.mit.edu	37	20	29847382	29847382	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:29847382G>A	ENST00000400552.1	+	2	214	c.214G>A	c.(214-216)Gat>Aat	p.D72N		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	72					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TAAAGAAAAGGATAAACTATC	0.348																																						uc002wvp.1		NA																	0				ovary(1)	1						c.(214-216)GAT>AAT		beta-defensin 115 precursor							87.0	82.0	83.0					20																	29847382		1865	4107	5972	SO:0001583	missense	245929				defense response to bacterium	extracellular region		g.chr20:29847382G>A	DQ012019	CCDS42859.1	20q11.1	2008-07-17			ENSG00000215547	ENSG00000215547		"""Defensins, beta"""	18096	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037730		Approved	DEFB-15	uc002wvp.1	Q30KQ5	OTTHUMG00000159284	ENST00000400552.1:c.214G>A	20.37:g.29847382G>A	ENSP00000383398:p.Asp72Asn						p.D72N	NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)		2	214	+			72						Missense_Mutation	SNP	ENST00000400552.1	37	c.214G>A	CCDS42859.1	.	.	.	.	.	.	.	.	.	.	G	4.958	0.177872	0.09443	.	.	ENSG00000215547	ENST00000400552	T	0.31769	1.48	3.17	-6.34	0.01982	.	.	.	.	.	T	0.10078	0.0247	.	.	.	0.09310	N	1	B	0.22683	0.073	B	0.21917	0.037	T	0.32161	-0.9917	8	0.09084	T	0.74	.	2.2666	0.04080	0.1405:0.1335:0.4354:0.2906	.	72	Q30KQ5	DB115_HUMAN	N	72	ENSP00000383398:D72N	ENSP00000383398:D72N	D	+	1	0	DEFB115	29311043	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.338000	0.02655	-1.402000	0.02056	-0.750000	0.03501	GAT		0.348	DEFB115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354402.1	NM_001037730		7	61	0	0	0	0	7	61				
DEFB118	117285	broad.mit.edu	37	20	29960871	29960871	+	Silent	SNP	G	G	A	rs549760716		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:29960871G>A	ENST00000253381.2	+	2	303	c.270G>A	c.(268-270)acG>acA	p.T90T		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	90					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAAGGTTCACGACAGACTACT	0.453																																						uc002wvr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(268-270)ACG>ACA		beta-defensin 118 precursor							120.0	113.0	115.0					20																	29960871		2203	4300	6503	SO:0001819	synonymous_variant	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960871G>A	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.270G>A	20.37:g.29960871G>A							p.T90T	NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	296	+	all_hematologic(12;0.158)		90					Q17RC4|Q8N691|Q9NUH0	Silent	SNP	ENST00000253381.2	37	c.270G>A	CCDS13177.1																																																																																				0.453	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		15	108	0	0	0	0	15	108				
DUSP15	128853	broad.mit.edu	37	20	30436629	30436629	+	Missense_Mutation	SNP	C	C	T	rs377341994		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30436629C>T	ENST00000278979.3	-	9	782	c.706G>A	c.(706-708)Gag>Aag	p.E236K				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	236					positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATGAGCTGCTCCTTGGGGTGC	0.607																																						uc002wwu.1		NA																	0				pancreas(1)	1						c.(706-708)GAG>AAG		RecName: Full=Dual specificity protein phosphatase 15;          EC=3.1.3.48;          EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y;		C		0,1752		0,0,876	31.0	32.0	32.0			0.1	0.0	20		32	1,3979		0,1,1989	no	intergenic				0,1,2865	TT,TC,CC		0.0251,0.0,0.0174			30436629	1,5731	876	1990	2866	SO:0001583	missense	128853					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr20:30436629C>T		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.706G>A	20.37:g.30436629C>T	ENSP00000278979:p.Glu236Lys						p.E236K			Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		9	783	-			236					A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Missense_Mutation	SNP	ENST00000278979.3	37	c.706G>A		.	.	.	.	.	.	.	.	.	.	C	11.08	1.533605	0.27387	0.0	2.51E-4	ENSG00000149599	ENST00000278979	D	0.93906	-3.31	3.37	0.122	0.14702	SMAD domain-like (1);SMAD/FHA domain (1);	.	.	.	.	D	0.87067	0.6085	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77062	-0.2727	8	0.87932	D	0	.	3.9542	0.09382	0.0:0.4284:0.2015:0.3701	.	236	Q9H1R2	DUS15_HUMAN	K	236	ENSP00000278979:E236K	ENSP00000278979:E236K	E	-	1	0	DUSP15	29900290	0.467000	0.25831	0.002000	0.10522	0.001000	0.01503	1.323000	0.33701	0.134000	0.18681	-0.448000	0.05591	GAG		0.607	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	NM_080611		6	23	0	0	0	0	6	23				
TTLL9	164395	broad.mit.edu	37	20	30486286	30486286	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30486286G>A	ENST00000375938.4	+	4	377	c.124G>A	c.(124-126)Gca>Aca	p.A42T	TTLL9_ENST00000375921.2_5'UTR|TTLL9_ENST00000310998.4_5'UTR|RNU1-94P_ENST00000362627.1_RNA|TTLL9_ENST00000535842.1_Missense_Mutation_p.A42T|TTLL9_ENST00000375934.4_Missense_Mutation_p.A24T|TTLL9_ENST00000375922.4_5'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	42	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGCAGAGAGCATCGATCCG	0.517																																						uc010gdx.1		NA																	0				ovary(2)	2						c.(124-126)GCA>ACA		tubulin tyrosine ligase-like family, member 9							107.0	106.0	107.0					20																	30486286		2054	4195	6249	SO:0001583	missense	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30486286G>A	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.124G>A	20.37:g.30486286G>A	ENSP00000365105:p.Ala42Thr					TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.S51N|TTLL9_uc010ztp.1_RNA	p.A42T	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	377	+			42			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	c.124G>A	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495493	0.26774	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000375935;ENST00000375934	T;T;T	0.09817	3.86;3.86;2.94	5.57	3.49	0.39957	.	0.955506	0.08808	N	0.890765	T	0.04770	0.0129	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34625	-0.9821	10	0.20519	T	0.43	.	6.3441	0.21339	0.0997:0.1872:0.713:0.0	.	42	Q3SXZ7	TTLL9_HUMAN	T	42;42;24;24	ENSP00000365105:A42T;ENSP00000442515:A42T;ENSP00000365100:A24T	ENSP00000365100:A24T	A	+	1	0	TTLL9	29949947	0.986000	0.35501	0.963000	0.40424	0.691000	0.40173	1.223000	0.32527	1.350000	0.45770	0.650000	0.86243	GCA		0.517	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		11	88	0	0	0	0	11	88				
TTLL9	164395	broad.mit.edu	37	20	30522680	30522680	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30522680G>A	ENST00000375938.4	+	12	1246	c.993G>A	c.(991-993)caG>caA	p.Q331Q	TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000310998.4_Silent_p.Q296Q|TTLL9_ENST00000535842.1_Silent_p.Q331Q|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375922.4_Silent_p.Q273Q			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	331	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATCGACCAGGACCTCAAGC	0.532																																						uc010gdx.1		NA																	0				ovary(2)	2						c.(991-993)CAG>CAA		tubulin tyrosine ligase-like family, member 9							77.0	79.0	78.0					20																	30522680		2049	4190	6239	SO:0001819	synonymous_variant	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30522680G>A	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.993G>A	20.37:g.30522680G>A						TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Silent_p.Q233Q|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	p.Q331Q	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		12	1246	+			331			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Silent	SNP	ENST00000375938.4	37	c.993G>A	CCDS42863.1																																																																																				0.532	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		29	79	0	0	0	0	29	79				
TM9SF4	9777	broad.mit.edu	37	20	30730848	30730848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30730848C>T	ENST00000398022.2	+	6	827	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	TM9SF4_ENST00000217315.5_Nonsense_Mutation_p.Q181*	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	198						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAAGAGGACCAGGAGCACAC	0.562																																						uc002wxj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(592-594)CAG>TAG		transmembrane 9 superfamily protein member 4							205.0	137.0	160.0					20																	30730848		2203	4300	6503	SO:0001587	stop_gained	9777					integral to membrane		g.chr20:30730848C>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.592C>T	20.37:g.30730848C>T	ENSP00000381104:p.Gln198*					TM9SF4_uc010ztr.1_Nonsense_Mutation_p.Q124*|TM9SF4_uc010zts.1_Nonsense_Mutation_p.Q105*|TM9SF4_uc002wxk.2_Nonsense_Mutation_p.Q181*|TM9SF4_uc010gdz.2_Nonsense_Mutation_p.Q105*	p.Q198*	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		6	827	+			198					B0QYT7|Q9NUA3	Nonsense_Mutation	SNP	ENST00000398022.2	37	c.592C>T	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	C	37	6.194407	0.97367	.	.	ENSG00000101337	ENST00000398022;ENST00000421148;ENST00000217315	.	.	.	4.85	4.85	0.62838	.	0.253904	0.39834	N	0.001254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-9.1725	18.5204	0.90950	0.0:1.0:0.0:0.0	.	.	.	.	X	198;124;181	.	ENSP00000217315:Q181X	Q	+	1	0	TM9SF4	30194509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.945000	0.49043	2.684000	0.91462	0.555000	0.69702	CAG		0.562	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		50	54	0	0	0	0	50	54				
PLAGL2	5326	broad.mit.edu	37	20	30784317	30784317	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30784317G>A	ENST00000246229.4	-	3	1693	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	477					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGAAGACAGGAGGCAAGGAG	0.582																																					Colon(163;15 1893 11280 16306 47518)	uc002wxn.2		NA																	0				ovary(1)|skin(1)	2						c.(1429-1431)CCT>TCT		pleiomorphic adenoma gene-like 2							53.0	56.0	55.0					20																	30784317		2203	4300	6503	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784317G>A		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1429C>T	20.37:g.30784317G>A	ENSP00000246229:p.Pro477Ser						p.P477S	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1646	-			477					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.1429C>T	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	G	5.081	0.200549	0.09652	.	.	ENSG00000126003	ENST00000246229	T	0.07216	3.21	4.91	4.91	0.64330	.	0.060622	0.64402	D	0.000002	T	0.03871	0.0109	N	0.04880	-0.145	0.49483	D	0.99979	B	0.13594	0.008	B	0.11329	0.006	T	0.47971	-0.9075	10	0.15499	T	0.54	.	9.0712	0.36493	0.1602:0.0:0.8398:0.0	.	477	Q9UPG8	PLAL2_HUMAN	S	477	ENSP00000246229:P477S	ENSP00000246229:P477S	P	-	1	0	PLAGL2	30247978	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.677000	0.61634	2.547000	0.85894	0.591000	0.81541	CCT		0.582	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		25	55	0	0	0	0	25	55				
PLAGL2	5326	broad.mit.edu	37	20	30785254	30785254	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30785254G>A	ENST00000246229.4	-	3	756	c.492C>T	c.(490-492)acC>acT	p.T164T		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	164					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TACTCTCAAAGGTCTGCAGGC	0.617																																					Colon(163;15 1893 11280 16306 47518)	uc002wxn.2		NA																	0				ovary(1)|skin(1)	2						c.(490-492)ACC>ACT		pleiomorphic adenoma gene-like 2							29.0	27.0	28.0					20																	30785254		2203	4298	6501	SO:0001819	synonymous_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30785254G>A		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.492C>T	20.37:g.30785254G>A							p.T164T	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	709	-			164			C2H2-type 4.		A8K8T5|E1P5M3|Q92584	Silent	SNP	ENST00000246229.4	37	c.492C>T	CCDS13197.1																																																																																				0.617	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		6	31	0	0	0	0	6	31				
MYH7B	57644	broad.mit.edu	37	20	33568428	33568428	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:33568428C>T	ENST00000262873.7	+	6	608	c.516C>T	c.(514-516)ctC>ctT	p.L172L	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	130	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACAAATGGCTCCCAGTCTATA	0.512																																						uc010gfa.1		NA																	0				ovary(1)|breast(1)	2						c.(388-390)CTC>CTT		RecName: Full=Myosin-7B; AltName: Full=Myosin heavy chain 7B, cardiac muscle beta isoform; AltName: Full=Myosin cardiac muscle beta chain; AltName: Full=Antigen MLAA-21; AltName: Full=Slow A MYH14;							138.0	148.0	144.0					20																	33568428		2195	4300	6495	SO:0001819	synonymous_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33568428C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.516C>T	20.37:g.33568428C>T						MYH7B_uc002xbi.1_Silent_p.L172L	p.L130L			A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		5	511	+			130			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	c.390C>T	CCDS42869.1																																																																																				0.512	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		27	242	0	0	0	0	27	242				
FAM83C	128876	broad.mit.edu	37	20	33875587	33875587	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:33875587C>T	ENST00000374408.3	-	4	1091	c.995G>A	c.(994-996)aGg>aAg	p.R332K	EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	332										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACATCAGGCCTGAAGGCTAG	0.652																																						uc010zux.1		NA																	0				ovary(2)	2						c.(994-996)AGG>AAG		hypothetical protein LOC128876							97.0	80.0	86.0					20																	33875587		2202	4300	6502	SO:0001583	missense	128876							g.chr20:33875587C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.995G>A	20.37:g.33875587C>T	ENSP00000363529:p.Arg332Lys					EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	p.R332K	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1113	-			332					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.995G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	2.155	-0.393617	0.04899	.	.	ENSG00000125998	ENST00000374408	T	0.06449	3.3	5.05	2.97	0.34412	.	0.682043	0.12816	N	0.436809	T	0.04907	0.0132	L	0.47190	1.495	0.23070	N	0.998346	B	0.19817	0.039	B	0.19148	0.024	T	0.49244	-0.8960	10	0.05833	T	0.94	-11.5982	4.9061	0.13799	0.152:0.6134:0.1476:0.087	.	332	Q9BQN1	FA83C_HUMAN	K	332	ENSP00000363529:R332K	ENSP00000363529:R332K	R	-	2	0	FAM83C	33339001	0.004000	0.15560	0.740000	0.30986	0.122000	0.20287	1.201000	0.32259	2.519000	0.84933	0.561000	0.74099	AGG		0.652	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			6	9	0	0	0	0	6	9				
PHF20	51230	broad.mit.edu	37	20	34451277	34451277	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:34451277G>A	ENST00000374012.3	+	6	892	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Intron			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	255					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAACTTGAGGGAACCCAAAAG	0.448																																						uc002xek.1		NA																	0				ovary(1)	1						c.(763-765)GAA>AAA		PHD finger protein 20							116.0	127.0	123.0					20																	34451277		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34451277G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.763G>A	20.37:g.34451277G>A	ENSP00000363124:p.Glu255Lys					PHF20_uc002xei.1_Missense_Mutation_p.E255K|PHF20_uc010gfo.1_Missense_Mutation_p.E255K|PHF20_uc002xej.1_Missense_Mutation_p.E139K|PHF20_uc002xel.1_Missense_Mutation_p.E117K	p.E255K	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			6	874	+	Breast(12;0.00631)|all_lung(11;0.0145)		255					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.763G>A	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819873	0.71028	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000;ENST00000449988	T;T;T	0.53423	1.29;0.62;0.63	5.83	4.83	0.62350	.	0.180439	0.48286	D	0.000191	T	0.49270	0.1547	N	0.19112	0.55	0.80722	D	1	D;D;D	0.64830	0.978;0.98;0.994	P;P;D	0.64506	0.824;0.714;0.926	T	0.25676	-1.0125	10	0.12430	T	0.62	.	16.418	0.83748	0.0:0.1313:0.8687:0.0	.	255;255;255	Q566Q2;Q9BVI0;Q66K49	.;PHF20_HUMAN;.	K	255;255;255;148	ENSP00000363124:E255K;ENSP00000341900:E255K;ENSP00000363112:E255K	ENSP00000341900:E255K	E	+	1	0	PHF20	33914691	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.015000	0.64035	2.763000	0.94921	0.561000	0.74099	GAA		0.448	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		31	180	0	0	0	0	31	180				
PHF20	51230	broad.mit.edu	37	20	34487531	34487531	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:34487531G>A	ENST00000374012.3	+	10	1651	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	508					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCCCAGCCAGGAGACCCTGAC	0.537																																						uc002xek.1		NA																	0				ovary(1)	1						c.(1522-1524)GAG>AAG		PHD finger protein 20							62.0	66.0	64.0					20																	34487531		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34487531G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1522G>A	20.37:g.34487531G>A	ENSP00000363124:p.Glu508Lys					PHF20_uc002xei.1_Missense_Mutation_p.E508K|PHF20_uc010gfo.1_Missense_Mutation_p.E508K|PHF20_uc002xej.1_Missense_Mutation_p.E392K	p.E508K	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			10	1633	+	Breast(12;0.00631)|all_lung(11;0.0145)		508					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.1522G>A	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294423	0.81025	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.46063	1.48;0.88;0.88	5.92	5.92	0.95590	.	0.304353	0.35525	N	0.003146	T	0.37404	0.1002	L	0.53249	1.67	0.80722	D	1	B;P	0.36282	0.181;0.546	B;B	0.26770	0.033;0.073	T	0.20107	-1.0285	10	0.15066	T	0.55	.	20.3248	0.98698	0.0:0.0:1.0:0.0	.	508;508	Q9BVI0;Q66K49	PHF20_HUMAN;.	K	508	ENSP00000363124:E508K;ENSP00000341900:E508K;ENSP00000363112:E508K	ENSP00000341900:E508K	E	+	1	0	PHF20	33950945	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.122000	0.77169	2.818000	0.97014	0.655000	0.94253	GAG		0.537	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		26	62	0	0	0	0	26	62				
RBL1	5933	broad.mit.edu	37	20	35632247	35632248	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:35632247_35632248GG>AA	ENST00000373664.3	-	21	2959_2960	c.2893_2894CC>TT	c.(2893-2895)CCt>TTt	p.P965F	RBL1_ENST00000344359.3_Missense_Mutation_p.P965F	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	965					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ATGTGGAAAAGGAGAGAGTGGT	0.396																																						uc002xgi.2		NA																	0				lung(5)|skin(3)|ovary(2)	10						c.(2893-2895)CCT>TTT		retinoblastoma-like protein 1 isoform a																																				SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35632247_35632248GG>AA	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2893_2894delinsAA	20.37:g.35632247_35632248delinsAA	ENSP00000362768:p.Pro965Phe					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.P965F	p.P965F	NM_002895	NP_002886	P28749	RBL1_HUMAN			21	2972_2973	-		Myeloproliferative disorder(115;0.00878)	965					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	DNP	ENST00000373664.3	37	c.2893_2894CC>TT	CCDS13289.1																																																																																				0.396	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		13	51	0	0	0	0	13	51				
MROH8	140699	broad.mit.edu	37	20	35776293	35776293	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:35776293C>T	ENST00000400441.3	-	10	1093	c.1094G>A	c.(1093-1095)aGa>aAa	p.R365K	MROH8_ENST00000441008.2_Missense_Mutation_p.R351K|MROH8_ENST00000217333.8_Missense_Mutation_p.R245K			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	250																	GTGTCCAAGTCTTTGGAATCG	0.478																																						uc010zvu.1		NA																	0					0						c.(1123-1125)AGA>AAA		hypothetical protein LOC140699 isoform 1							54.0	55.0	55.0					20																	35776293		1942	4131	6073	SO:0001583	missense	140699							g.chr20:35776293C>T	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1094G>A	20.37:g.35776293C>T	ENSP00000383291:p.Arg365Lys					C20orf132_uc002xgk.2_Missense_Mutation_p.R48K|C20orf132_uc002xgm.2_Missense_Mutation_p.R375K|C20orf132_uc002xgn.2_Missense_Mutation_p.R340K	p.R375K	NM_152503	NP_689716	Q9H579	CT132_HUMAN			12	1215	-		Myeloproliferative disorder(115;0.00878)	250					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.1124G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.92|13.92	2.381578|2.381578	0.42207|0.42207	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811;ENST00000400440|ENST00000441008;ENST00000400441;ENST00000217333	.|T;T;T	.|0.05139	.|3.49;3.49;3.49	5.68|5.68	4.55|4.55	0.56014|0.56014	.|.	.|0.371936	.|0.29501	.|N	.|0.011977	T|T	0.06645|0.06645	0.0170|0.0170	L|L	0.56769|0.56769	1.78|1.78	0.28973|0.28973	N|N	0.889125|0.889125	.|B;B;B;B	.|0.14012	.|0.005;0.009;0.009;0.004	.|B;B;B;B	.|0.18561	.|0.006;0.013;0.022;0.009	T|T	0.38436|0.38436	-0.9661|-0.9661	5|10	.|0.05620	.|T	.|0.96	-9.6634|-9.6634	10.4233|10.4233	0.44363|0.44363	0.0:0.8974:0.0:0.1026|0.0:0.8974:0.0:0.1026	.|.	.|365;250;375;250	.|E7ETR9;Q9H579;Q6PF12;Q9H579-2	.|.;CT132_HUMAN;.;.	N|K	392;396|351;365;245	.|ENSP00000392144:R351K;ENSP00000383291:R365K;ENSP00000217333:R245K	.|ENSP00000217333:R245K	D|R	-|-	1|2	0|0	C20orf132|C20orf132	35209707|35209707	0.839000|0.839000	0.29477|0.29477	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	0.436000|0.436000	0.21526|0.21526	2.697000|2.697000	0.92050|0.92050	0.650000|0.650000	0.86243|0.86243	GAC|AGA		0.478	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		12	33	0	0	0	0	12	33				
SRC	6714	broad.mit.edu	37	20	36012652	36012652	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36012652C>T	ENST00000373578.2	+	4	445	c.96C>T	c.(94-96)ttC>ttT	p.F32F	SRC_ENST00000373558.2_Silent_p.F32F|SRC_ENST00000360723.4_Silent_p.F32F|SRC_ENST00000445403.1_Silent_p.F32F|SRC_ENST00000373567.2_Silent_p.F32F|SRC_ENST00000358208.4_Silent_p.F32F	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	32					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	GGGGCGCTTTCCCCGCCTCGC	0.751																																						uc002xgx.2		NA																	0				large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13						c.(94-96)TTC>TTT		proto-oncogene tyrosine-protein kinase SRC	Dasatinib(DB01254)						7.0	10.0	9.0					20																	36012652		1906	3998	5904	SO:0001819	synonymous_variant	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36012652C>T	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.96C>T	20.37:g.36012652C>T						SRC_uc002xgy.2_Silent_p.F32F	p.F32F	NM_005417	NP_005408	P12931	SRC_HUMAN			4	545	+		Myeloproliferative disorder(115;0.00878)	32					E1P5V4|Q76P87|Q86VB9|Q9H5A8	Silent	SNP	ENST00000373578.2	37	c.96C>T	CCDS13294.1																																																																																				0.751	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		11	25	0	0	0	0	11	25				
TTI1	9675	broad.mit.edu	37	20	36641079	36641079	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36641079G>A	ENST00000373448.2	-	3	1378	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Silent_p.S380S|TTI1_ENST00000373447.3_Silent_p.S380S	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	380					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ATGTGGCAAGGGAATGCAGGC	0.463																																						uc002xhl.2		NA																	0					0						c.(1138-1140)TCC>TCT		hypothetical protein LOC9675							147.0	149.0	148.0					20																	36641079		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36641079G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1140C>T	20.37:g.36641079G>A						KIAA0406_uc002xhm.2_Silent_p.S380S	p.S380S	NM_014657	NP_055472	O43156	TTI1_HUMAN			3	1349	-		Myeloproliferative disorder(115;0.00874)	380					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.1140C>T	CCDS13300.1																																																																																				0.463	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		43	249	0	0	0	0	43	249				
TTI1	9675	broad.mit.edu	37	20	36641942	36641942	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36641942G>A	ENST00000373448.2	-	3	515	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.L93F|TTI1_ENST00000373447.3_Missense_Mutation_p.L93F	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	93					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGTTCCTGGAGAAGCTCCTGT	0.493																																						uc002xhl.2		NA																	0					0						c.(277-279)CTC>TTC		hypothetical protein LOC9675							109.0	108.0	109.0					20																	36641942		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36641942G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.277C>T	20.37:g.36641942G>A	ENSP00000362547:p.Leu93Phe					KIAA0406_uc002xhm.2_Missense_Mutation_p.L93F	p.L93F	NM_014657	NP_055472	O43156	TTI1_HUMAN			3	486	-		Myeloproliferative disorder(115;0.00874)	93					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.277C>T	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826101	0.71143	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.67698	-0.28;-0.28;-0.28	5.33	5.33	0.75918	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.55481	1.735	0.80722	D	1	D	0.56521	0.976	P	0.50049	0.629	T	0.62789	-0.6780	10	0.10377	T	0.69	-1.8757	18.1918	0.89809	0.0:0.0:1.0:0.0	.	93	O43156	TTI1_HUMAN	F	93	ENSP00000362547:L93F;ENSP00000362546:L93F;ENSP00000407270:L93F	ENSP00000362546:L93F	L	-	1	0	TTI1	36075356	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.969000	0.76092	2.777000	0.95525	0.655000	0.94253	CTC		0.493	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		50	125	0	0	0	0	50	125				
KIAA1755	85449	broad.mit.edu	37	20	36855595	36855595	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36855595C>T	ENST00000279024.4	-	7	2284	c.2013G>A	c.(2011-2013)aaG>aaA	p.K671K		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	671										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGCCGCCTCCTTCTCCCCCA	0.602																																						uc002xhy.1		NA																	0				ovary(4)|pancreas(1)	5						c.(2011-2013)AAG>AAA		hypothetical protein LOC85449							47.0	44.0	45.0					20																	36855595		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36855595C>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2013G>A	20.37:g.36855595C>T						KIAA1755_uc002xhz.1_Silent_p.K671K	p.K671K	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			7	2285	-		Myeloproliferative disorder(115;0.00874)	671					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.2013G>A	CCDS33467.1																																																																																				0.602	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		10	63	0	0	0	0	10	63				
RALGAPB	57148	broad.mit.edu	37	20	37154598	37154598	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:37154598T>C	ENST00000262879.6	+	13	2247	c.1963T>C	c.(1963-1965)Ttt>Ctt	p.F655L	RALGAPB_ENST00000397042.3_Missense_Mutation_p.F655L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.F655L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.F433L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	655					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACCAATAACTTTTCTGTCCCT	0.363																																						uc002xiw.2		NA																	0				pancreas(1)|skin(1)	2						c.(1963-1965)TTT>CTT		Ral GTPase activating protein, beta subunit							110.0	111.0	111.0					20																	37154598		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37154598T>C	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1963T>C	20.37:g.37154598T>C	ENSP00000262879:p.Phe655Leu					RALGAPB_uc002xix.2_Missense_Mutation_p.F655L|RALGAPB_uc002xiy.1_Missense_Mutation_p.F655L|RALGAPB_uc002xiz.2_Missense_Mutation_p.F433L|RALGAPB_uc002xja.1_Missense_Mutation_p.F382L	p.F655L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			13	2220	+			655					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1963T>C	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416470	0.83449	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.63417	-0.04;-0.04	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.77452	0.4132	M	0.67397	2.05	0.80722	D	1	B;P;D;P	0.56035	0.08;0.954;0.974;0.954	B;D;D;D	0.70487	0.048;0.943;0.969;0.943	T	0.78283	-0.2264	10	0.52906	T	0.07	.	16.1713	0.81820	0.0:0.0:0.0:1.0	.	483;655;655;655	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	L	655;655;655;433;655;483	ENSP00000262879:F655L;ENSP00000380233:F655L	ENSP00000262879:F655L	F	+	1	0	RALGAPB	36588012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.694000	0.84235	2.221000	0.72209	0.528000	0.53228	TTT		0.363	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		40	101	0	0	0	0	40	101				
PLCG1	5335	broad.mit.edu	37	20	39793697	39793697	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:39793697G>A	ENST00000373271.1	+	13	1747	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R	PLCG1_ENST00000244007.3_Missense_Mutation_p.G448R|PLCG1_ENST00000373272.2_Missense_Mutation_p.G448R	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	448	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTCTGCCGACGGGCTCCCCTC	0.597																																						uc002xjp.1		NA																	0				lung(3)|breast(3)|skin(2)	8						c.(1342-1344)GGG>AGG		phospholipase C, gamma 1 isoform b							64.0	53.0	57.0					20																	39793697		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39793697G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1342G>A	20.37:g.39793697G>A	ENSP00000362368:p.Gly448Arg					PLCG1_uc002xjo.1_Missense_Mutation_p.G448R|PLCG1_uc010zwe.1_Missense_Mutation_p.G74R|PLCG1_uc010ggf.2_5'Flank	p.G448R	NM_182811	NP_877963	P19174	PLCG1_HUMAN			13	1463	+		Myeloproliferative disorder(115;0.00878)	448			PI-PLC X-box.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.1342G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702219	0.30232	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.62364	0.03;0.03;0.03	5.13	5.13	0.70059	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.153836	0.64402	D	0.000018	T	0.33118	0.0852	N	0.01109	-1.01	0.80722	D	1	B;B;B	0.24823	0.092;0.112;0.112	B;B;B	0.18561	0.013;0.022;0.022	T	0.33292	-0.9874	10	0.14252	T	0.57	.	18.7713	0.91893	0.0:0.0:1.0:0.0	.	448;448;448	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	R	448	ENSP00000244007:G448R;ENSP00000362368:G448R;ENSP00000362369:G448R	ENSP00000244007:G448R	G	+	1	0	PLCG1	39227111	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.437000	0.80417	2.672000	0.90937	0.655000	0.94253	GGG		0.597	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		13	31	0	0	0	0	13	31				
TOMM34	10953	broad.mit.edu	37	20	43572214	43572214	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:43572214G>A	ENST00000372813.3	-	6	857	c.705C>T	c.(703-705)ctC>ctT	p.L235L	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	235					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				CCAAATAGCAGAGTGCTCTGA	0.498																																						uc002xmy.2		NA																	0					0						c.(703-705)CTC>CTT		translocase of outer mitochondrial membrane 34							116.0	105.0	109.0					20																	43572214		2203	4300	6503	SO:0001819	synonymous_variant	10953				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	g.chr20:43572214G>A	U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.705C>T	20.37:g.43572214G>A						PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	p.L235L	NM_006809	NP_006800	Q15785	TOM34_HUMAN			6	845	-		Myeloproliferative disorder(115;0.0122)	235			TPR 5.		Q53GH9|Q6IBN7|Q9NTZ3	Silent	SNP	ENST00000372813.3	37	c.705C>T	CCDS13340.1																																																																																				0.498	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	NM_006809		33	113	0	0	0	0	33	113				
DNTTIP1	116092	broad.mit.edu	37	20	44430653	44430653	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:44430653C>T	ENST00000372622.3	+	7	582	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	172						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGACGGCCTCCTGGACACAT	0.602																																						uc002xpk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(514-516)CCT>TCT		terminal deoxynucleotidyltransferase interacting							73.0	74.0	74.0					20																	44430653		2203	4300	6503	SO:0001583	missense	116092					nucleus		g.chr20:44430653C>T	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.514C>T	20.37:g.44430653C>T	ENSP00000361705:p.Pro172Ser						p.P172S	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN			7	582	+		Myeloproliferative disorder(115;0.0122)	172					B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	ENST00000372622.3	37	c.514C>T	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.13|17.13	3.311731|3.311731	0.60414|0.60414	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000372622;ENST00000415790|ENST00000456939	T;T|.	0.52754|.	0.81;0.65|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.135928|.	0.51477|.	D|.	0.000082|.	T|T	0.71160|0.71160	0.3307|0.3307	L|L	0.59436|0.59436	1.845|1.845	0.47153|0.47153	D|D	0.999338|0.999338	B|.	0.21821|.	0.061|.	B|.	0.20184|.	0.028|.	T|T	0.67764|0.67764	-0.5586|-0.5586	10|5	0.41790|.	T|.	0.15|.	-10.9834|-10.9834	16.3142|16.3142	0.82909|0.82909	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	172|.	Q9H147|.	TDIF1_HUMAN|.	S|F	172;132|122	ENSP00000361705:P172S;ENSP00000392509:P132S|.	ENSP00000361705:P172S|.	P|S	+|+	1|2	0|0	DNTTIP1|DNTTIP1	43864060|43864060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.808000|4.808000	0.62583|0.62583	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.602	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		34	114	0	0	0	0	34	114				
PCIF1	63935	broad.mit.edu	37	20	44574858	44574858	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:44574858T>C	ENST00000372409.3	+	14	1812	c.1448T>C	c.(1447-1449)cTc>cCc	p.L483P	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	483					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GGCGTGGGCCTCTACGAGGGG	0.667																																						uc002xqs.2		NA																	0				skin(1)	1						c.(1447-1449)CTC>CCC		phosphorylated CTD interacting factor 1							85.0	83.0	84.0					20																	44574858		2203	4300	6503	SO:0001583	missense	63935					nucleus		g.chr20:44574858T>C	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1448T>C	20.37:g.44574858T>C	ENSP00000361486:p.Leu483Pro					PCIF1_uc002xqt.2_Missense_Mutation_p.L63P|PCIF1_uc002xqu.2_5'Flank	p.L483P	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			14	1762	+			483					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.1448T>C	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	T	7.951	0.744845	0.15710	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	4.86	4.86	0.63082	Phosphorylated CTD interacting factor 1, WW domain (1);	0.398478	0.26196	N	0.025768	T	0.42449	0.1203	L	0.29908	0.895	0.58432	D	0.999999	B	0.10296	0.003	B	0.09377	0.004	T	0.30387	-0.9980	9	0.30078	T	0.28	-30.3989	9.231	0.37437	0.1613:0.0:0.0:0.8387	.	483	Q9H4Z3	PCIF1_HUMAN	P	483	.	ENSP00000361486:L483P	L	+	2	0	PCIF1	44008265	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.853000	0.48317	2.042000	0.60477	0.379000	0.24179	CTC		0.667	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		12	93	0	0	0	0	12	93				
CD40	958	broad.mit.edu	37	20	44750928	44750928	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:44750928G>A	ENST00000372285.3	+	3	259	c.187G>A	c.(187-189)Ggt>Agt	p.G63S	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.G63S	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	63					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				CCTTCCTTGCGGTGAAAGCGA	0.537									Immune Deficiency with Hyper-IgM																													uc002xrg.1		NA																	0				lung(1)|skin(1)	2						c.(187-189)GGT>AGT		CD40 antigen isoform 1 precursor	Simvastatin(DB00641)						93.0	79.0	84.0					20																	44750928		2203	4300	6503	SO:0001583	missense	958	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44750928G>A	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.187G>A	20.37:g.44750928G>A	ENSP00000361359:p.Gly63Ser					CD40_uc002xrf.1_Missense_Mutation_p.G63S|CD40_uc002xrh.1_Missense_Mutation_p.G63S|CD40_uc002xri.1_Missense_Mutation_p.G63S|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	p.G63S	NM_001250	NP_001241	P25942	TNR5_HUMAN			3	264	+		Myeloproliferative disorder(115;0.0122)	63			TNFR-Cys 2.|Extracellular (Potential).		E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	37	c.187G>A	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	g	1.390	-0.581142	0.03854	.	.	ENSG00000101017	ENST00000372285;ENST00000372276	T;T	0.69806	-0.43;-0.43	4.66	-9.33	0.00639	TNFR/CD27/30/40/95 cysteine-rich region (2);	2.980600	0.00639	N	0.000502	T	0.43255	0.1239	N	0.26162	0.8	0.09310	N	1	B;B;B;B	0.15141	0.0;0.001;0.012;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.36672	-0.9738	10	0.11485	T	0.65	4.321	4.0948	0.09986	0.4243:0.3518:0.1346:0.0892	.	46;63;63;63	Q09LL4;P25942-2;P25942;Q6P2H9	.;.;TNR5_HUMAN;.	S	63	ENSP00000361359:G63S;ENSP00000361350:G63S	ENSP00000361350:G63S	G	+	1	0	CD40	44184335	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.163000	0.01276	-2.704000	0.00397	-0.366000	0.07423	GGT		0.537	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		10	106	0	0	0	0	10	106				
SLC2A10	81031	broad.mit.edu	37	20	45354665	45354665	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:45354665G>C	ENST00000359271.2	+	2	1240	c.990G>C	c.(988-990)ctG>ctC	p.L330L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	330					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CAAGCTGTCTGGCTGTGCCCA	0.622																																						uc002xsl.2		NA																	0				ovary(1)	1						c.(988-990)CTG>CTC		solute carrier family 2 member 10							60.0	54.0	56.0					20																	45354665		2203	4300	6503	SO:0001819	synonymous_variant	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354665G>C	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.990G>C	20.37:g.45354665G>C							p.L330L	NM_030777	NP_110404	O95528	GTR10_HUMAN			2	1087	+		Myeloproliferative disorder(115;0.0122)	330			Extracellular (Potential).		A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	c.990G>C	CCDS13402.1																																																																																				0.622	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			20	72	0	0	0	0	20	72				
ZMYND8	23613	broad.mit.edu	37	20	45874948	45874948	+	Silent	SNP	G	G	A	rs143651717	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:45874948G>A	ENST00000311275.7	-	14	2281	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	ZMYND8_ENST00000352431.2_Silent_p.S696S|ZMYND8_ENST00000372023.3_Silent_p.S671S|ZMYND8_ENST00000360911.3_Silent_p.S671S|ZMYND8_ENST00000458360.2_Silent_p.S671S|ZMYND8_ENST00000355972.4_Silent_p.S676S|ZMYND8_ENST00000471951.2_Silent_p.S696S|ZMYND8_ENST00000446994.2_Silent_p.S613S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Silent_p.S696S|ZMYND8_ENST00000536340.1_Silent_p.S703S|ZMYND8_ENST00000540497.1_Silent_p.S624S|ZMYND8_ENST00000396281.4_Silent_p.S676S|ZMYND8_ENST00000262975.4_Silent_p.S676S	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	676					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGCCTTTTCGGAAAAGTCCT	0.512																																						uc002xta.1		NA																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(2026-2028)TCC>TCT		zinc finger, MYND-type containing 8 isoform b		G	,,	0,4406		0,0,2203	225.0	205.0	212.0		2088,2088,2013	-10.0	0.0	20	dbSNP_134	212	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	ZMYND8	NM_012408.3,NM_183047.1,NM_183048.1	,,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,,	696/1161,696/1189,671/1136	45874948	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45874948G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2028C>T	20.37:g.45874948G>A						ZMYND8_uc010ghq.1_Silent_p.S353S|ZMYND8_uc010ghr.1_Silent_p.S651S|ZMYND8_uc002xst.1_Silent_p.S604S|ZMYND8_uc002xsu.1_Silent_p.S676S|ZMYND8_uc002xsv.1_Silent_p.S604S|ZMYND8_uc002xsw.1_Silent_p.S428S|ZMYND8_uc002xsx.1_Silent_p.S428S|ZMYND8_uc002xsy.1_Silent_p.S651S|ZMYND8_uc002xsz.1_Silent_p.S613S|ZMYND8_uc010zxy.1_Silent_p.S703S|ZMYND8_uc002xtb.1_Silent_p.S696S|ZMYND8_uc002xss.2_Silent_p.S676S|ZMYND8_uc010zxz.1_Silent_p.S671S|ZMYND8_uc002xtc.1_Silent_p.S696S|ZMYND8_uc002xtd.1_Silent_p.S671S|ZMYND8_uc002xte.1_Silent_p.S676S|ZMYND8_uc010zya.1_Silent_p.S676S|ZMYND8_uc002xtf.1_Silent_p.S696S|ZMYND8_uc002xtg.2_Silent_p.S670S|ZMYND8_uc010ghs.1_Silent_p.S670S	p.S676S	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2282	-			676					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.2028C>T		.	.	.	.	.	.	.	.	.	.	G	0.025	-1.378582	0.01204	0.0	4.65E-4	ENSG00000101040	ENST00000467200	.	.	.	5.91	-9.97	0.00440	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1066	2.7743	0.05343	0.2977:0.1094:0.3907:0.2022	.	.	.	.	X	604	.	.	R	-	1	2	ZMYND8	45308355	0.558000	0.26554	0.000000	0.03702	0.022000	0.10575	-0.267000	0.08619	-2.323000	0.00639	-2.136000	0.00340	CGA		0.512	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		43	249	0	0	0	0	43	249				
ARFGEF2	10564	broad.mit.edu	37	20	47587686	47587687	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:47587686_47587687CC>TT	ENST00000371917.4	+	10	1220_1221	c.1220_1221CC>TT	c.(1219-1221)tCC>tTT	p.S407F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	407					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGGTGGTTTCCCTGCAGCTGC	0.446																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NA																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(1219-1221)TCC>TTT		ADP-ribosylation factor guanine																																				SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47587686_47587687CC>TT	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	Exception_encountered	20.37:g.47587686_47587687delinsTT	ENSP00000360985:p.Ser407Phe						p.S407F	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		10	1372_1373	+			407					Q5TFT9|Q9NTS1	Missense_Mutation	DNP	ENST00000371917.4	37	c.1220_1221CC>TT	CCDS13411.1																																																																																				0.446	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		41	116	0	0	0	0	41	116				
KCNG1	3755	broad.mit.edu	37	20	49620884	49620884	+	Missense_Mutation	SNP	G	G	A	rs375631930		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:49620884G>A	ENST00000371571.4	-	3	1519	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	412					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TAGCAGGCAGGGATGCTGGTG	0.647																																						uc002xwa.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1234-1236)CCT>TCT		potassium voltage-gated channel, subfamily G,							66.0	59.0	61.0					20																	49620884		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620884G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1234C>T	20.37:g.49620884G>A	ENSP00000360626:p.Pro412Ser						p.P412S	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			3	1529	-			412					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1234C>T	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876874	0.91664	.	.	ENSG00000026559	ENST00000371571	D	0.97480	-4.4	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99053	1.0828	9	.	.	.	.	19.3567	0.94418	0.0:0.0:1.0:0.0	.	412	Q9UIX4	KCNG1_HUMAN	S	412	ENSP00000360626:P412S	.	P	-	1	0	KCNG1	49054291	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.808000	0.99193	2.578000	0.87016	0.462000	0.41574	CCT		0.647	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		10	56	0	0	0	0	10	56				
SALL4	57167	broad.mit.edu	37	20	50407413	50407413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:50407413G>A	ENST00000217086.4	-	2	1720	c.1609C>T	c.(1609-1611)Caa>Taa	p.Q537*	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	537					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCACTCCCTTGGAAGCCACCA	0.582																																						uc002xwh.3		NA																	0				ovary(2)	2						c.(1609-1611)CAA>TAA		sal-like 4							110.0	107.0	108.0					20																	50407413		2203	4300	6503	SO:0001587	stop_gained	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407413G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1609C>T	20.37:g.50407413G>A	ENSP00000217086:p.Gln537*					SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	p.Q537*	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	1710	-			537					A2A2D8|Q540H3|Q6Y8G6	Nonsense_Mutation	SNP	ENST00000217086.4	37	c.1609C>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	38	6.662842	0.97743	.	.	ENSG00000101115	ENST00000217086	.	.	.	5.19	4.23	0.50019	.	0.352956	0.20847	N	0.084594	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4372	14.1013	0.65056	0.0743:0.0:0.9257:0.0	.	.	.	.	X	537	.	ENSP00000217086:Q537X	Q	-	1	0	SALL4	49840820	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.776000	0.55356	2.406000	0.81754	0.650000	0.86243	CAA		0.582	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			86	124	0	0	0	0	86	124				
ZBP1	81030	broad.mit.edu	37	20	56190040	56190040	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:56190040C>A	ENST00000371173.3	-	4	582	c.405G>T	c.(403-405)agG>agT	p.R135S	ZBP1_ENST00000541799.1_Missense_Mutation_p.R135S|ZBP1_ENST00000340462.4_Missense_Mutation_p.R112S|ZBP1_ENST00000395822.3_Missense_Mutation_p.R60S|ZBP1_ENST00000343535.4_Missense_Mutation_p.R135S|ZBP1_ENST00000538947.1_5'Flank	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	135					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTTTTGCTGTCCTCATTCCCA	0.542																																						uc002xyo.2		NA																	0				ovary(2)	2						c.(403-405)AGG>AGT		Z-DNA binding protein 1 isoform a							258.0	209.0	226.0					20																	56190040		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56190040C>A	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.405G>T	20.37:g.56190040C>A	ENSP00000360215:p.Arg135Ser					ZBP1_uc010gjm.2_Missense_Mutation_p.R135S|ZBP1_uc002xyp.2_Missense_Mutation_p.R60S|ZBP1_uc010zzn.1_Missense_Mutation_p.R135S	p.R135S	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		4	686	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		135			DRADA 2.		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.405G>T	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683037	0.29872	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	3.39	2.43	0.29744	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (1);	0.810104	0.10743	N	0.639258	T	0.15132	0.0365	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.29253	0.058;0.239;0.136;0.239	B;B;B;B	0.27262	0.017;0.053;0.078;0.053	T	0.20739	-1.0266	10	0.51188	T	0.08	-9.7813	8.6753	0.34176	0.0:0.7655:0.2345:0.0	.	135;135;60;135	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	S	135;60;112;135;135;135	ENSP00000360215:R135S;ENSP00000379167:R60S;ENSP00000344954:R112S;ENSP00000340584:R135S;ENSP00000440552:R135S	ENSP00000344954:R112S	R	-	3	2	ZBP1	55623446	0.627000	0.27129	0.031000	0.17742	0.054000	0.15201	0.898000	0.28404	1.002000	0.39104	-0.175000	0.13238	AGG		0.542	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		119	171	1	0	9.79e-58	1.02e-57	119	171				
VAPB	9217	broad.mit.edu	37	20	57015992	57015992	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:57015992C>T	ENST00000475243.1	+	5	764	c.426C>T	c.(424-426)tcC>tcT	p.S142S	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	142					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			AAATTATATCCACAACTGCAT	0.348																																						uc002xza.2		NA																	0				kidney(1)	1						c.(424-426)TCC>TCT		VAMP-associated protein B/C							41.0	42.0	41.0					20																	57015992		2203	4300	6503	SO:0001819	synonymous_variant	9217				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	g.chr20:57015992C>T	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.426C>T	20.37:g.57015992C>T						VAPB_uc002xzb.2_RNA|VAPB_uc010zzo.1_Silent_p.S19S|VAPB_uc002xzc.2_Intron	p.S142S	NM_004738	NP_004729	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		5	697	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		142			Cytoplasmic (Potential).		A2A2F2|O95293|Q9P0H0	Silent	SNP	ENST00000475243.1	37	c.426C>T	CCDS33498.1																																																																																				0.348	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			6	43	0	0	0	0	6	43				
ZNF831	128611	broad.mit.edu	37	20	57767538	57767538	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:57767538C>T	ENST00000371030.2	+	1	1464	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	488							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCACTCCGTCCCCACTCAGC	0.697																																						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(1462-1464)GTC>GTT		zinc finger protein 831							26.0	32.0	30.0					20																	57767538		2006	4164	6170	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767538C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1464C>T	20.37:g.57767538C>T							p.V488V	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1464	+	all_lung(29;0.0085)		488					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1464C>T	CCDS42894.1																																																																																				0.697	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		24	33	0	0	0	0	24	33				
C20orf197	284756	broad.mit.edu	37	20	58645826	58645826	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:58645826G>A	ENST00000313426.1	+	4	550	c.244G>A	c.(244-246)Gag>Aag	p.E82K		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	82										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GCAGTCAAGAGAGCTGGGAAA	0.468																																						uc002ybj.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(244-246)GAG>AAG		hypothetical protein LOC284756							90.0	84.0	86.0					20																	58645826		2203	4300	6503	SO:0001583	missense	284756							g.chr20:58645826G>A	AK091179	CCDS13487.1	20q13.33	2006-07-07			ENSG00000176659	ENSG00000176659			26601	protein-coding gene	gene with protein product						12975309	Standard	NM_173644		Approved	FLJ33860	uc002ybj.1	Q8N268	OTTHUMG00000032880	ENST00000313426.1:c.244G>A	20.37:g.58645826G>A	ENSP00000316457:p.Glu82Lys						p.E82K	NM_173644	NP_775915	Q8N268	CT197_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.33e-09)		4	550	+			82					Q08EQ0	Missense_Mutation	SNP	ENST00000313426.1	37	c.244G>A	CCDS13487.1	.	.	.	.	.	.	.	.	.	.	G	5.961	0.361334	0.11296	.	.	ENSG00000176659	ENST00000313426	.	.	.	1.45	-0.933	0.10431	.	.	.	.	.	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B	0.24920	0.114	B	0.15052	0.012	T	0.14615	-1.0466	8	0.87932	D	0	.	5.0354	0.14432	0.0:0.2094:0.5616:0.229	.	82	Q8N268	CT197_HUMAN	K	82	.	ENSP00000316457:E82K	E	+	1	0	C20orf197	58079221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.109000	0.03309	-0.813000	0.04357	-1.961000	0.00478	GAG		0.468	C20orf197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079944.1	NM_173644		5	57	0	0	0	0	5	57				
RBBP8NL	140893	broad.mit.edu	37	20	60987714	60987714	+	Silent	SNP	C	C	T	rs373863951		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:60987714C>T	ENST00000252998.1	-	13	1998	c.1842G>A	c.(1840-1842)cgG>cgA	p.R614R		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	614						extracellular space (GO:0005615)											GCTTCCTCTTCCGTGGTGGAC	0.701																																						uc002ycw.1		NA																	0					0						c.(1840-1842)CGG>CGA		hypothetical protein LOC140893		C		0,4404		0,0,2202	65.0	67.0	67.0		1842	1.5	0.8	20		67	1,8597		0,1,4298	no	coding-synonymous	C20orf151	NM_080833.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		614/665	60987714	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	140893							g.chr20:60987714C>T	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1842G>A	20.37:g.60987714C>T							p.R614R	NM_080833	NP_543023	Q8NC74	CT151_HUMAN	BRCA - Breast invasive adenocarcinoma(19;6.43e-06)		13	1999	-	Breast(26;2.05e-08)		614					B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	c.1842G>A	CCDS13498.1																																																																																				0.701	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		12	102	0	0	0	0	12	102				
COL9A3	1299	broad.mit.edu	37	20	61451328	61451328	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61451328G>A	ENST00000343916.3	+	5	306	c.303G>A	c.(301-303)ggG>ggA	p.G101G		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	101	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GTGCCCCTGGGGAACGGGTAA	0.662																																						uc002ydm.2		NA																	0					0						c.(301-303)GGG>GGA		alpha 3 type IX collagen precursor							72.0	73.0	73.0					20																	61451328		2203	4300	6503	SO:0001819	synonymous_variant	1299				axon guidance	collagen type IX		g.chr20:61451328G>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.303G>A	20.37:g.61451328G>A							p.G101G	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			5	306	+	Breast(26;5.68e-08)		101			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Silent	SNP	ENST00000343916.3	37	c.303G>A	CCDS13505.1																																																																																				0.662	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		10	88	0	0	0	0	10	88				
DIDO1	11083	broad.mit.edu	37	20	61511582	61511583	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61511582_61511583GG>AA	ENST00000266070.4	-	16	6050_6051	c.5725_5726CC>TT	c.(5725-5727)CCc>TTc	p.P1909F	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1909F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1909	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AAACTGAGAGGGAGGGGGGCCG	0.644																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(5725-5727)CCC>TTC		death inducer-obliterator 1 isoform c																																				SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511582_61511583GG>AA	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5725_5726delinsAA	20.37:g.61511582_61511583delinsAA	ENSP00000266070:p.Pro1909Phe					DIDO1_uc002yds.1_Missense_Mutation_p.P1909F	p.P1909F	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5989_5990	-	Breast(26;5.68e-08)		1909			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	DNP	ENST00000266070.4	37	c.5725_5726CC>TT	CCDS33506.1																																																																																				0.644	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		16	74	0	0	0	0	16	74				
COL20A1	57642	broad.mit.edu	37	20	61950421	61950421	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61950421C>T	ENST00000358894.6	+	22	2775	c.2675C>T	c.(2674-2676)cCa>cTa	p.P892L	COL20A1_ENST00000422202.1_Missense_Mutation_p.P899L|COL20A1_ENST00000326996.6_Missense_Mutation_p.P892L|COL20A1_ENST00000435874.1_Missense_Mutation_p.P899L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	892	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GACGTCTACCCAGCCCCCCTA	0.657																																						uc011aau.1		NA																	0				central_nervous_system(1)	1						c.(2674-2676)CCA>CTA		collagen, type XX, alpha 1							55.0	62.0	60.0					20																	61950421		2055	4181	6236	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61950421C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2675C>T	20.37:g.61950421C>T	ENSP00000351767:p.Pro892Leu					COL20A1_uc011aav.1_Missense_Mutation_p.P713L	p.P892L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			22	2775	+	all_cancers(38;1.39e-10)		892			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.2675C>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.639726	0.00112	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.21	-3.23	0.05109	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.312798	0.30311	N	0.009911	T	0.14700	0.0355	L	0.29908	0.895	0.26074	N	0.981175	B;B	0.14805	0.011;0.007	B;B	0.17433	0.018;0.008	T	0.40515	-0.9559	10	0.02654	T	1	.	9.7784	0.40634	0.1205:0.7514:0.0:0.128	.	899;892	Q9P218-2;Q9P218	.;COKA1_HUMAN	L	892;892;899;899	ENSP00000351767:P892L;ENSP00000323077:P892L;ENSP00000408690:P899L;ENSP00000414753:P899L	ENSP00000323077:P892L	P	+	2	0	COL20A1	61420866	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	0.080000	0.14802	-0.885000	0.03971	-0.390000	0.06520	CCA		0.657	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		12	47	0	0	0	0	12	47				
CHRNA4	1137	broad.mit.edu	37	20	61978201	61978201	+	Nonsense_Mutation	SNP	C	C	T	rs267606047		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61978201C>T	ENST00000370263.4	-	6	1994	c.1773G>A	c.(1771-1773)tgG>tgA	p.W591*	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	591					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CCACGTACTTCCAGTCCTCCT	0.682																																						uc002yes.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1771-1773)TGG>TGA		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						131.0	87.0	102.0					20																	61978201		2202	4300	6502	SO:0001587	stop_gained	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61978201C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1773G>A	20.37:g.61978201C>T	ENSP00000359285:p.Trp591*					CHRNA4_uc002yet.1_Nonsense_Mutation_p.W415*|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Nonsense_Mutation_p.W520*|CHRNA4_uc002yev.1_Nonsense_Mutation_p.W415*|CHRNA4_uc010gkf.1_Nonsense_Mutation_p.W415*	p.W591*	NM_000744	NP_000735	P43681	ACHA4_HUMAN			6	1951	-	all_cancers(38;1.71e-10)		591			Cytoplasmic (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Nonsense_Mutation	SNP	ENST00000370263.4	37	c.1773G>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	41	8.557139	0.98861	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	.	.	.	4.41	4.41	0.53225	.	0.182541	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3382	0.87288	0.0:1.0:0.0:0.0	.	.	.	.	X	497;591;520	.	ENSP00000359280:W497X	W	-	3	0	CHRNA4	61448645	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.601000	0.82783	2.168000	0.68352	0.498000	0.49722	TGG		0.682	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			41	48	0	0	0	0	41	48				
CHRNA4	1137	broad.mit.edu	37	20	61981710	61981710	+	Silent	SNP	G	G	A	rs61737042	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61981710G>A	ENST00000370263.4	-	5	1274	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	351					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GGCGTGGCACGATGTCCAGGA	0.632													G|||	7	0.00139776	0.0053	0.0	5008	,	,		17502	0.0		0.0	False		,,,				2504	0.0					uc002yes.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1051-1053)ATC>ATT		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)	G		7,4399	12.9+/-30.5	0,7,2196	116.0	82.0	94.0		1053	-2.4	0.1	20	dbSNP_129	94	0,8600		0,0,4300	no	coding-synonymous	CHRNA4	NM_000744.5		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		351/628	61981710	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981710G>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1053C>T	20.37:g.61981710G>A						CHRNA4_uc002yet.1_Silent_p.I175I|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.I280I|CHRNA4_uc002yev.1_Silent_p.I175I|CHRNA4_uc010gkf.1_Silent_p.I175I	p.I351I	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	1231	-	all_cancers(38;1.71e-10)		351			Cytoplasmic (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.1053C>T	CCDS13517.1																																																																																				0.632	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			32	34	0	0	0	0	32	34				
HELZ2	85441	broad.mit.edu	37	20	62196773	62196773	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:62196773G>A	ENST00000467148.1	-	8	3471	c.3402C>T	c.(3400-3402)ttC>ttT	p.F1134F	HELZ2_ENST00000427522.2_Silent_p.F565F	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1134					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTCTGGCACGAAAGAGCAGT	0.701																																						uc002yfm.2		NA																	0				central_nervous_system(2)	2						c.(3400-3402)TTC>TTT		PPAR-alpha interacting complex protein 285							13.0	14.0	14.0					20																	62196773		2164	4258	6422	SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62196773G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3402C>T	20.37:g.62196773G>A						PRIC285_uc002yfl.1_Silent_p.F565F	p.F1134F	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	4294	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1134					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.3402C>T	CCDS33508.1																																																																																				0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		6	24	0	0	0	0	6	24				
ZNF512B	57473	broad.mit.edu	37	20	62630979	62630979	+	Intron	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:62630979T>A	ENST00000450537.1	-	2	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.L297H|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCGCGACTGCTCCTCAAGTCT	0.592																																						uc002yho.2		NA																	0				ovary(2)	2						c.(889-891)CTC>CAC		PRP6 pre-mRNA processing factor 6 homolog							123.0	110.0	114.0					20																	62630979		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62630979T>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31671A>T	20.37:g.62630979T>A						PRPF6_uc002yhp.2_Missense_Mutation_p.L297H	p.L297H	NM_012469	NP_036601	O94906	PRP6_HUMAN			8	1058	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		297					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.890T>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529601	0.85706	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.39592	1.07;1.07	5.24	5.24	0.73138	Tetratricopeptide-like helical (1);	0.057039	0.64402	D	0.000001	T	0.74772	0.3760	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.967	D	0.83437	0.0041	10	0.87932	D	0	-12.4651	15.4865	0.75571	0.0:0.0:0.0:1.0	.	297;297	O94906-2;O94906	.;PRP6_HUMAN	H	297	ENSP00000266079:L297H;ENSP00000446216:L297H	ENSP00000266079:L297H	L	+	2	0	PRPF6	62101423	1.000000	0.71417	0.996000	0.52242	0.800000	0.45204	7.463000	0.80869	2.118000	0.64928	0.529000	0.55759	CTC		0.592	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		23	113	0	0	0	0	23	113				
TPTE	7179	broad.mit.edu	37	21	10910350	10910350	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:10910350C>T	ENST00000361285.4	-	22	1735	c.1406G>A	c.(1405-1407)gGt>gAt	p.G469D	TPTE_ENST00000342420.5_Missense_Mutation_p.G431D|TPTE_ENST00000298232.7_Missense_Mutation_p.G451D|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	469	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGAGGTAGACCGTCGAATAC	0.343																																						uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1405-1407)GGT>GAT		transmembrane phosphatase with tensin homology							239.0	223.0	229.0					21																	10910350		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10910350C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1406G>A	21.37:g.10910350C>T	ENSP00000355208:p.Gly469Asp					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.G451D|TPTE_uc002yir.1_Missense_Mutation_p.G431D|TPTE_uc010gkv.1_Missense_Mutation_p.G331D	p.G469D	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	22	1774	-			469			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1406G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	4.308	0.056445	0.08291	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85411	-1.98;-1.98;-1.98	2.25	2.25	0.28309	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.175113	0.50627	D	0.000105	T	0.81578	0.4852	L	0.46157	1.445	0.09310	N	1	P;P;B	0.40332	0.713;0.713;0.146	P;P;B	0.46419	0.516;0.513;0.166	T	0.70313	-0.4906	10	0.32370	T	0.25	-15.6776	8.1329	0.31037	0.0:1.0:0.0:0.0	.	431;451;469	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	D	451;469;431	ENSP00000298232:G451D;ENSP00000355208:G469D;ENSP00000344441:G431D	ENSP00000298232:G451D	G	-	2	0	TPTE	9932221	0.790000	0.28787	0.006000	0.13384	0.007000	0.05969	1.561000	0.36342	1.575000	0.49775	0.184000	0.17185	GGT		0.343	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			7	80	0	0	0	0	7	80				
SAMSN1	64092	broad.mit.edu	37	21	15858399	15858399	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:15858399G>A	ENST00000400566.1	-	8	1037	c.956C>T	c.(955-957)tCc>tTc	p.S319F	SAMSN1_ENST00000400564.1_Missense_Mutation_p.S151F|SAMSN1_ENST00000285670.2_Missense_Mutation_p.S387F	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	319					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGAGCTCAAGGATAGGGGCTC	0.393																																						uc002yju.1		NA																	0				ovary(3)|pancreas(1)	4						c.(955-957)TCC>TTC		SAM domain, SH3 domain and nuclear localization							67.0	59.0	61.0					21																	15858399		1845	4090	5935	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15858399G>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.956C>T	21.37:g.15858399G>A	ENSP00000383411:p.Ser319Phe					SAMSN1_uc010gky.1_Missense_Mutation_p.S151F|SAMSN1_uc002yjv.1_Missense_Mutation_p.S387F	p.S319F	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	8	1038	-			319					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.956C>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111483	0.20714	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	T;T	0.49139	0.79;0.83	5.74	2.85	0.33270	.	0.870253	0.10284	N	0.693122	T	0.51466	0.1676	M	0.72118	2.19	0.09310	N	0.999999	P;D;P	0.56035	0.911;0.974;0.694	P;P;B	0.48141	0.562;0.568;0.243	T	0.42172	-0.9467	10	0.66056	D	0.02	0.9551	5.6618	0.17672	0.0636:0.2213:0.4871:0.2281	.	151;387;319	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	F	387;319;151	ENSP00000285670:S387F;ENSP00000383411:S319F	ENSP00000285670:S387F	S	-	2	0	SAMSN1	14780270	0.086000	0.21541	0.000000	0.03702	0.389000	0.30415	2.071000	0.41500	0.316000	0.23135	0.591000	0.81541	TCC		0.393	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			6	30	0	0	0	0	6	30				
NCAM2	4685	broad.mit.edu	37	21	22841080	22841080	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:22841080G>A	ENST00000400546.1	+	14	2121	c.1872G>A	c.(1870-1872)ttG>ttA	p.L624L	NCAM2_ENST00000284894.7_Silent_p.L482L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	624	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCCCTATTTTGGAATACATTG	0.378																																						uc002yld.1		NA																	0				ovary(4)	4						c.(1870-1872)TTG>TTA		neural cell adhesion molecule 2 precursor							128.0	122.0	124.0					21																	22841080		1827	4080	5907	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22841080G>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1872G>A	21.37:g.22841080G>A						NCAM2_uc011acb.1_Silent_p.L482L	p.L624L	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	14	2121	+		Lung NSC(9;0.195)	624			Fibronectin type-III 2.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1872G>A	CCDS42910.1																																																																																				0.378	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		8	23	0	0	0	0	8	23				
GRIK1	2897	broad.mit.edu	37	21	30927416	30927416	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:30927416C>T	ENST00000399907.1	-	16	2975	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E	GRIK1_ENST00000535441.1_Missense_Mutation_p.G857E|GRIK1_ENST00000399909.1_Missense_Mutation_p.G840E|GRIK1_ENST00000327783.4_Missense_Mutation_p.G855E|GRIK1_ENST00000399914.1_Missense_Mutation_p.G840E|GRIK1_ENST00000309434.7_Missense_Mutation_p.G857E|GRIK1_ENST00000399913.1_Missense_Mutation_p.G855E|GRIK1_ENST00000389124.2_Missense_Mutation_p.G855E|GRIK1_ENST00000389125.3_Missense_Mutation_p.G840E	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	855					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|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 postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|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)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TATGAATTCTCCAATAGCTAC	0.398																																						uc002yno.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2563-2565)GGA>GAA		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						73.0	73.0	73.0					21																	30927416		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30927416C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2564G>A	21.37:g.30927416C>T	ENSP00000382791:p.Gly855Glu					GRIK1_uc002ynn.2_Missense_Mutation_p.G840E|GRIK1_uc011acs.1_Missense_Mutation_p.G855E|GRIK1_uc011act.1_Missense_Mutation_p.G716E	p.G855E	NM_000830	NP_000821	P39086	GRIK1_HUMAN			16	3028	-			855			Helical; (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2564G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718856	0.89205	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.12672	2.67;2.71;2.72;2.67;2.72;2.66;2.71;2.72;2.7	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.14098	0.0341	N	0.08118	0	0.80722	D	1	P;P;P;P	0.46020	0.764;0.871;0.852;0.845	P;P;P;P	0.49887	0.623;0.501;0.623;0.625	T	0.13710	-1.0499	10	0.66056	D	0.02	.	18.6582	0.91462	0.0:1.0:0.0:0.0	.	840;855;855;840	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	E	855;840;855;840;857;716;855;855;840;857	ENSP00000327687:G855E;ENSP00000373777:G840E;ENSP00000382797:G855E;ENSP00000382798:G840E;ENSP00000446326:G857E;ENSP00000373776:G855E;ENSP00000382791:G855E;ENSP00000382793:G840E;ENSP00000311646:G857E	ENSP00000311646:G857E	G	-	2	0	GRIK1	29849287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.603000	0.82811	2.803000	0.96430	0.650000	0.86243	GGA		0.398	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			13	45	0	0	0	0	13	45				
GRIK1	2897	broad.mit.edu	37	21	30963489	30963489	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:30963489C>A	ENST00000399907.1	-	10	1719	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	GRIK1_ENST00000535441.1_Missense_Mutation_p.K438N|GRIK1_ENST00000399909.1_Missense_Mutation_p.K421N|GRIK1_ENST00000327783.4_Missense_Mutation_p.K436N|GRIK1_ENST00000399914.1_Missense_Mutation_p.K421N|GRIK1_ENST00000309434.7_Missense_Mutation_p.K438N|GRIK1_ENST00000399913.1_Missense_Mutation_p.K436N|GRIK1_ENST00000389124.2_Missense_Mutation_p.K436N|GRIK1_ENST00000389125.3_Missense_Mutation_p.K421N	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	436					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|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 postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|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)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TATTGCTGGACTTGTCTTTGT	0.463																																						uc002yno.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1306-1308)AAG>AAT		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						429.0	334.0	366.0					21																	30963489		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30963489C>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1308G>T	21.37:g.30963489C>A	ENSP00000382791:p.Lys436Asn					GRIK1_uc002ynn.2_Missense_Mutation_p.K421N|GRIK1_uc011acs.1_Missense_Mutation_p.K436N|GRIK1_uc011act.1_Missense_Mutation_p.K365N|GRIK1_uc010glq.1_Missense_Mutation_p.K279N	p.K436N	NM_000830	NP_000821	P39086	GRIK1_HUMAN			10	1772	-			436			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1308G>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	8.010	0.757274	0.15846	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.13307	2.6;2.66;2.65;2.61;2.66;2.61;2.65;2.66;2.66	5.06	3.26	0.37387	.	0.557088	0.20329	N	0.094471	T	0.08223	0.0205	N	0.20574	0.59	0.34613	D	0.717811	B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.001	B;B;B;B;B	0.10450	0.001;0.002;0.002;0.002;0.005	T	0.21895	-1.0232	10	0.24483	T	0.36	.	8.1348	0.31048	0.0:0.6998:0.0:0.3002	.	421;436;421;436;421	E7EPY9;E9PD61;E7EPZ0;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	N	436;421;436;421;438;365;436;436;421;438	ENSP00000327687:K436N;ENSP00000373777:K421N;ENSP00000382797:K436N;ENSP00000382798:K421N;ENSP00000446326:K438N;ENSP00000373776:K436N;ENSP00000382791:K436N;ENSP00000382793:K421N;ENSP00000311646:K438N	ENSP00000311646:K438N	K	-	3	2	GRIK1	29885360	0.158000	0.22850	1.000000	0.80357	0.859000	0.49053	0.239000	0.18023	0.707000	0.31934	0.655000	0.94253	AAG		0.463	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			23	71	1	0	1.43e-11	1.47e-11	23	71				
KRTAP13-1	140258	broad.mit.edu	37	21	31768437	31768437	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31768437C>T	ENST00000355459.2	+	1	46	c.33C>T	c.(31-33)tcC>tcT	p.S11S		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	11						intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAAACTTCTCCTCCCGCTCCT	0.537																																						uc002yoa.2		NA																	0				ovary(1)	1						c.(31-33)TCC>TCT		keratin associated protein 13-1							208.0	182.0	191.0					21																	31768437		2203	4300	6503	SO:0001819	synonymous_variant	140258					intermediate filament		g.chr21:31768437C>T	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.33C>T	21.37:g.31768437C>T							p.S11S	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	46	+			11					Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	37	c.33C>T	CCDS13590.2																																																																																				0.537	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			43	128	0	0	0	0	43	128				
KRTAP19-4	337971	broad.mit.edu	37	21	31869219	31869219	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31869219C>T	ENST00000334058.2	-	1	232	c.210G>A	c.(208-210)acG>acA	p.T70T		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	70						intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTCTGATATCGTGTCCTCAG	0.408																																						uc011acz.1		NA																	0				ovary(2)	2						c.(208-210)ACG>ACA		keratin associated protein 19-4							175.0	173.0	173.0					21																	31869219		2203	4300	6503	SO:0001819	synonymous_variant	337971					intermediate filament		g.chr21:31869219C>T	AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"""Keratin associated proteins"""	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.210G>A	21.37:g.31869219C>T							p.T70T	NM_181610	NP_853641	Q3LI73	KR194_HUMAN			1	210	-			70					Q17RT4|Q17RT6	Silent	SNP	ENST00000334058.2	37	c.210G>A	CCDS33534.1																																																																																				0.408	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2			33	101	0	0	0	0	33	101				
KRTAP19-7	337974	broad.mit.edu	37	21	31933443	31933443	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31933443C>T	ENST00000334849.2	-	1	190	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	56						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						GACCAGTATCCCCCATAGCAT	0.443																																						uc011adb.1		NA																	0					0						c.(166-168)GGA>AGA		keratin associated protein 19-7							117.0	124.0	121.0					21																	31933443		2203	4300	6503	SO:0001583	missense	337974					intermediate filament		g.chr21:31933443C>T	AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"""Keratin associated proteins"""	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.166G>A	21.37:g.31933443C>T	ENSP00000334696:p.Gly56Arg						p.G56R	NM_181614	NP_853645	Q3SYF9	KR197_HUMAN			1	166	-			56					Q08EP7	Missense_Mutation	SNP	ENST00000334849.2	37	c.166G>A	CCDS13599.1	.	.	.	.	.	.	.	.	.	.	c	2.362	-0.346334	0.05208	.	.	ENSG00000244362	ENST00000334849	T	0.08720	3.06	4.21	-2.04	0.07343	.	0.142698	0.31909	N	0.006873	T	0.05135	0.0137	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.26052	-1.0114	9	0.87932	D	0	-0.9658	3.914	0.09214	0.1722:0.4:0.0:0.4278	.	56	Q3SYF9	KR197_HUMAN	R	56	ENSP00000334696:G56R	ENSP00000334696:G56R	G	-	1	0	KRTAP19-7	30855314	0.000000	0.05858	0.054000	0.19295	0.196000	0.23810	-0.102000	0.10956	-0.401000	0.07644	-0.488000	0.04728	GGA		0.443	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2			25	92	0	0	0	0	25	92				
KRTAP20-1	337975	broad.mit.edu	37	21	31988934	31988934	+	Missense_Mutation	SNP	G	G	T	rs544292602		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31988934G>T	ENST00000334664.2	+	1	185	c.161G>T	c.(160-162)gGt>gTt	p.G54V	KRTAP6-1_ENST00000329122.2_5'Flank	NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	54						intermediate filament (GO:0005882)				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						TGGTCATATGGTTTCTACTGA	0.448																																						uc011ade.1		NA																	0				breast(1)	1						c.(160-162)GGT>GTT		keratin associated protein 20-1							219.0	197.0	205.0					21																	31988934		2203	4300	6503	SO:0001583	missense	337975					intermediate filament		g.chr21:31988934G>T	AP001708	CCDS13603.1	21q22.1	2011-02-10			ENSG00000244624	ENSG00000244624		"""Keratin associated proteins"""	18943	protein-coding gene	gene with protein product						12359730	Standard	NM_181615		Approved	KAP20.1	uc011ade.2	Q3LI63	OTTHUMG00000057801	ENST00000334664.2:c.161G>T	21.37:g.31988934G>T	ENSP00000335503:p.Gly54Val					KRTAP6-1_uc002yop.2_5'Flank	p.G54V	NM_181615	NP_853646	Q3LI63	KR201_HUMAN			1	161	+			54						Missense_Mutation	SNP	ENST00000334664.2	37	c.161G>T	CCDS13603.1	.	.	.	.	.	.	.	.	.	.	G	9.551	1.116049	0.20795	.	.	ENSG00000244624	ENST00000334664	T	0.51817	0.69	4.1	2.18	0.27775	.	0.224257	0.21766	U	0.069430	T	0.47284	0.1437	.	.	.	0.25765	N	0.984901	D	0.54047	0.964	P	0.47981	0.563	T	0.42965	-0.9420	9	0.87932	D	0	.	10.2471	0.43347	0.0:0.3941:0.6059:0.0	.	54	Q3LI63	KR201_HUMAN	V	54	ENSP00000335503:G54V	ENSP00000335503:G54V	G	+	2	0	KRTAP20-1	30910805	0.020000	0.18652	0.301000	0.25044	0.441000	0.31987	1.014000	0.29950	0.614000	0.30107	0.643000	0.83706	GGT		0.448	KRTAP20-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128253.3			26	61	1	0	4.78e-09	4.9e-09	26	61				
SCAF4	57466	broad.mit.edu	37	21	33067280	33067280	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:33067280G>A	ENST00000286835.7	-	10	1464	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	SCAF4_ENST00000434667.3_Missense_Mutation_p.P346L|SCAF4_ENST00000399804.1_Missense_Mutation_p.P361L	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	361						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTGTCCATTAGGAGGAAGTGG	0.388																																						uc002ypd.2		NA																	0					0						c.(1081-1083)CCT>CTT		splicing factor, arginine/serine-rich 15 isoform							89.0	84.0	86.0					21																	33067280		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33067280G>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1082C>T	21.37:g.33067280G>A	ENSP00000286835:p.Pro361Leu					SFRS15_uc002ype.2_Missense_Mutation_p.P361L|SFRS15_uc010glu.2_Missense_Mutation_p.P346L|SFRS15_uc002ypf.1_Missense_Mutation_p.P35L	p.P361L	NM_020706	NP_065757	O95104	SFR15_HUMAN			10	1508	-			361					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.1082C>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093135	0.76756	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.48201	0.86;0.84;0.82	5.93	5.93	0.95920	.	0.172533	0.53938	D	0.000059	T	0.67439	0.2893	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.999;0.991;0.999;0.999	D;P;D;D	0.69479	0.922;0.831;0.964;0.922	T	0.63139	-0.6704	10	0.42905	T	0.14	-16.4421	20.3539	0.98825	0.0:0.0:1.0:0.0	.	346;361;361;361	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	L	346;361;361	ENSP00000402377:P346L;ENSP00000286835:P361L;ENSP00000382703:P361L	ENSP00000286835:P361L	P	-	2	0	SCAF4	31989151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.859000	0.86982	2.826000	0.97356	0.655000	0.94253	CCT		0.388	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		16	40	0	0	0	0	16	40				
TCP10L	140290	broad.mit.edu	37	21	33954558	33954558	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:33954558C>T	ENST00000300258.3	-	3	425	c.312G>A	c.(310-312)agG>agA	p.R104R	TCP10L_ENST00000472557.1_Silent_p.R18R|AP000275.65_ENST00000553001.1_Silent_p.R278R	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	104					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						CAGATTTCTTCCTGGCTTTCC	0.493																																						uc002ypy.1		NA																	0					0						c.(928-930)AGG>AGA		hypothetical protein LOC56683							125.0	120.0	122.0					21																	33954558		2203	4300	6503	SO:0001819	synonymous_variant	56683					cytosol|nucleus		g.chr21:33954558C>T	AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.312G>A	21.37:g.33954558C>T						TCP10L_uc002ypw.3_Silent_p.R104R|C21orf59_uc002ypx.1_Silent_p.R127R|C21orf59_uc002ypz.1_Silent_p.R278R	p.R310R	NM_021254	NP_067077	P57076	CU059_HUMAN			7	1043	-			Error:Variant_position_missing_in_P57076_after_alignment					Q53EW0|Q96LN5	Silent	SNP	ENST00000300258.3	37	c.930G>A	CCDS13616.1	.	.	.	.	.	.	.	.	.	.	C	1.964	-0.438211	0.04636	.	.	ENSG00000159079	ENST00000431216;ENST00000436676	.	.	.	0.591	-0.545	0.11843	.	.	.	.	.	T	0.23886	0.0578	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27262	-1.0079	3	.	.	.	-45.3607	.	.	.	.	.	.	.	E	278;126	.	.	G	-	2	0	C21orf59	32876429	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.714000	0.05002	-0.313000	0.08728	-0.474000	0.04947	GGA		0.493	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		27	96	0	0	0	0	27	96				
IFNAR1	3454	broad.mit.edu	37	21	34727665	34727665	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:34727665C>T	ENST00000270139.3	+	11	1636	c.1484C>T	c.(1483-1485)tCt>tTt	p.S495F	IFNAR1_ENST00000416947.2_Missense_Mutation_p.S426F|IFNAR1_ENST00000442357.2_Missense_Mutation_p.S434F	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	495					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	CTTTCAACTTCTGAGGAACAA	0.264																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	uc002yrn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1483-1485)TCT>TTT		interferon-alpha receptor 1 precursor	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						42.0	49.0	46.0					21																	34727665		2199	4296	6495	SO:0001583	missense	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34727665C>T		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1484C>T	21.37:g.34727665C>T	ENSP00000270139:p.Ser495Phe					IFNAR1_uc011adv.1_Missense_Mutation_p.S426F	p.S495F	NM_000629	NP_000620	P17181	INAR1_HUMAN			11	1631	+			495			Cytoplasmic (Potential).		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	c.1484C>T	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320166	0.60634	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.49139	0.79;0.93;1.53	5.89	5.0	0.66597	.	2.946150	0.01272	N	0.009464	T	0.71256	0.3318	M	0.75447	2.3	0.29553	N	0.851244	D	0.65815	0.995	P	0.61533	0.89	T	0.50541	-0.8816	10	0.72032	D	0.01	-18.4583	13.0818	0.59117	0.0:0.8391:0.1609:0.0	.	495	P17181	INAR1_HUMAN	F	426;495;434	ENSP00000395606:S426F;ENSP00000270139:S495F;ENSP00000407406:S434F	ENSP00000270139:S495F	S	+	2	0	IFNAR1	33649535	0.818000	0.29161	0.706000	0.30403	0.827000	0.46813	2.224000	0.42945	1.472000	0.48140	-0.176000	0.13171	TCT		0.264	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			14	51	0	0	0	0	14	51				
SON	6651	broad.mit.edu	37	21	34921999	34921999	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:34921999C>T	ENST00000356577.4	+	3	937	c.462C>T	c.(460-462)tcC>tcT	p.S154S	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.S154S|SON_ENST00000381679.4_Silent_p.S154S|SON_ENST00000300278.4_Silent_p.S154S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	154					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S154S(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AATCTGATTCCTTTTTAAAGT	0.398																																						uc002yse.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(460-462)TCC>TCT		SON DNA-binding protein isoform F							53.0	59.0	57.0					21																	34921999		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34921999C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.462C>T	21.37:g.34921999C>T						SON_uc002ysb.1_Silent_p.S154S|SON_uc002ysc.2_Silent_p.S154S|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.S154S	NM_138927	NP_620305	P18583	SON_HUMAN			3	511	+			154					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.462C>T	CCDS13629.1																																																																																				0.398	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		4	25	0	0	0	0	4	25				
DONSON	29980	broad.mit.edu	37	21	34957051	34957051	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:34957051G>A	ENST00000303071.5	-	4	696	c.630C>T	c.(628-630)ctC>ctT	p.L210L	DONSON_ENST00000432378.1_Silent_p.L210L|DONSON_ENST00000453626.1_Silent_p.L210L|DONSON_ENST00000303113.6_Intron|AP000304.12_ENST00000429238.1_Missense_Mutation_p.P172S	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	210					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AGGTACAACGGAGCTCAGAGG	0.438																																						uc002ysk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(628-630)CTC>CTT		downstream neighbor of SON							64.0	56.0	59.0					21																	34957051		2203	4300	6503	SO:0001819	synonymous_variant	29980				multicellular organismal development	nucleus		g.chr21:34957051G>A	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.630C>T	21.37:g.34957051G>A						DONSON_uc002ysn.1_Silent_p.L93L|DONSON_uc002ysi.1_Intron|DONSON_uc002ysj.2_5'UTR|DONSON_uc002ysl.2_5'UTR|DONSON_uc010gme.2_Silent_p.L183L|DONSON_uc002ysm.2_Silent_p.L210L	p.L210L	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN			4	697	-			210					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Silent	SNP	ENST00000303071.5	37	c.630C>T	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.555|8.555	0.876487|0.876487	0.17395|0.17395	.|.	.|.	ENSG00000159147;ENSG00000249209|ENSG00000159147	ENST00000440810;ENST00000429238|ENST00000437395	.|.	.|.	.|.	5.99|5.99	-7.6|-7.6	0.01303|0.01303	.|.	.|.	.|.	.|.	.|.	T|T	0.37544|0.37544	0.1007|0.1007	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42207|0.42207	-0.9465|-0.9465	4|4	.|.	.|.	.|.	-35.4339|-35.4339	3.444|3.444	0.07474|0.07474	0.2513:0.3786:0.2548:0.1154|0.2513:0.3786:0.2548:0.1154	.|.	.|.	.|.	.|.	S|F	69;172|181	.|.	.|.	P|S	-|-	1|2	0|0	DONSON;AP000304.12|DONSON	33878921|33878921	0.423000|0.423000	0.25482|0.25482	0.201000|0.201000	0.23476|0.23476	0.976000|0.976000	0.68499|0.68499	-0.413000|-0.413000	0.07123|0.07123	-1.376000|-1.376000	0.02126|0.02126	-0.136000|-0.136000	0.14681|0.14681	CCG|TCC		0.438	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		13	28	0	0	0	0	13	28				
DOPEY2	9980	broad.mit.edu	37	21	37618783	37618783	+	Missense_Mutation	SNP	C	C	T	rs200881283		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:37618783C>T	ENST00000399151.3	+	19	4590	c.4505C>T	c.(4504-4506)gCg>gTg	p.A1502V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1502					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGGTCTCTGCGGTGGTGAGG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		19386	0.001		0.0	False		,,,				2504	0.0					uc002yvg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(4504-4506)GCG>GTG		pad-1-like							44.0	44.0	44.0					21																	37618783		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37618783C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4505C>T	21.37:g.37618783C>T	ENSP00000382104:p.Ala1502Val					DOPEY2_uc011aeb.1_Missense_Mutation_p.A1451V|DOPEY2_uc002yvh.2_Missense_Mutation_p.A353V	p.A1502V	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			19	4584	+			1502					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.4505C>T	CCDS13643.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.1	4.802848	0.90623	.	.	ENSG00000142197	ENST00000399151	T	0.48201	0.82	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73218	0.3559	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.72880	-0.4158	10	0.46703	T	0.11	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	1502;1502	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	V	1502	ENSP00000382104:A1502V	ENSP00000382104:A1502V	A	+	2	0	DOPEY2	36540653	1.000000	0.71417	0.391000	0.26233	0.921000	0.55340	7.395000	0.79876	2.778000	0.95560	0.655000	0.94253	GCG		0.652	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		5	36	0	0	0	0	5	36				
TTC3	7267	broad.mit.edu	37	21	38461125	38461125	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:38461125T>C	ENST00000399017.2	+	5	3112	c.365T>C	c.(364-366)tTg>tCg	p.L122S	TTC3_ENST00000354749.2_Missense_Mutation_p.L122S|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000399010.1_Missense_Mutation_p.L122S|TTC3_ENST00000355666.1_Missense_Mutation_p.L122S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	122					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAGATAAATTTGAAGAAACTA	0.328																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(364-366)TTG>TCG		tetratricopeptide repeat domain 3							69.0	68.0	68.0					21																	38461125		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38461125T>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.365T>C	21.37:g.38461125T>C	ENSP00000381981:p.Leu122Ser					TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.L122S|TTC3_uc002ywb.2_Missense_Mutation_p.L122S|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.L122S	p.L122S	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			5	470	+		Myeloproliferative disorder(46;0.0412)	122					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.365T>C	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637751	0.67130	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.52057	2.5;0.68;2.07;2.82;2.82;2.82	4.85	4.85	0.62838	.	0.150600	0.31071	N	0.008301	T	0.63367	0.2505	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.66356	-0.5944	10	0.72032	D	0.01	-10.1055	11.9614	0.53011	0.0:0.0:0.0:1.0	.	122	P53804	TTC3_HUMAN	S	122	ENSP00000403943:L122S;ENSP00000408456:L122S;ENSP00000391891:L122S;ENSP00000347889:L122S;ENSP00000381981:L122S;ENSP00000346791:L122S	ENSP00000346791:L122S	L	+	2	0	TTC3	37382995	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.829000	0.48128	1.820000	0.53075	0.454000	0.30748	TTG		0.328	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			7	25	0	0	0	0	7	25				
TTC3	7267	broad.mit.edu	37	21	38538152	38538152	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:38538152G>A	ENST00000399017.2	+	33	6383	c.3636G>A	c.(3634-3636)agG>agA	p.R1212R	TTC3_ENST00000354749.2_Silent_p.R1212R|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.R1212R	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1212					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGCTGCTAGGGAATTTAAAC	0.363																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(3634-3636)AGG>AGA		tetratricopeptide repeat domain 3							76.0	81.0	79.0					21																	38538152		2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38538152G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3636G>A	21.37:g.38538152G>A						TTC3_uc011aee.1_Silent_p.R902R|TTC3_uc002ywa.2_Silent_p.R1212R|TTC3_uc002ywb.2_Silent_p.R1212R|TTC3_uc010gnf.2_Silent_p.R977R|TTC3_uc002ywc.2_Silent_p.R902R|TTC3_uc002ywd.1_Silent_p.R276R	p.R1212R	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			33	3741	+		Myeloproliferative disorder(46;0.0412)	1212					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.3636G>A	CCDS13651.1																																																																																				0.363	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			20	51	0	0	0	0	20	51				
DSCAM	1826	broad.mit.edu	37	21	42080587	42080587	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:42080587G>A	ENST00000400454.1	-	2	631	c.154C>T	c.(154-156)Cct>Tct	p.P52S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	52	Ig-like C2-type 1.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCACAGGAGGGATGCCTGCT	0.592																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(154-156)CCT>TCT		Down syndrome cell adhesion molecule isoform							99.0	104.0	102.0					21																	42080587		2025	4181	6206	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42080587G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.154C>T	21.37:g.42080587G>A	ENSP00000383303:p.Pro52Ser					DSCAM_uc002yyr.1_RNA	p.P52S	NM_001389	NP_001380	O60469	DSCAM_HUMAN			2	606	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	52			Extracellular (Potential).|Ig-like C2-type 1.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.154C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908379	0.72868	.	.	ENSG00000171587	ENST00000400454	T	0.56103	0.48	5.1	5.1	0.69264	Immunoglobulin-like fold (1);	0.066654	0.64402	D	0.000008	T	0.61035	0.2315	M	0.87381	2.88	0.45662	D	0.99858	B	0.19583	0.037	B	0.28638	0.092	T	0.65117	-0.6246	10	0.87932	D	0	.	12.9776	0.58546	0.0:0.0:0.8388:0.1611	.	52	O60469	DSCAM_HUMAN	S	52	ENSP00000383303:P52S	ENSP00000383303:P52S	P	-	1	0	DSCAM	41002457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.411000	0.80078	2.547000	0.85894	0.585000	0.79938	CCT		0.592	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		21	78	0	0	0	0	21	78				
ABCG1	9619	broad.mit.edu	37	21	43708321	43708321	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:43708321G>A	ENST00000361802.2	+	10	1304	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	ABCG1_ENST00000398437.1_Splice_Site_p.D533N|ABCG1_ENST00000343687.3_Splice_Site_p.D386N|ABCG1_ENST00000398457.2_Splice_Site_p.D377N|ABCG1_ENST00000340588.4_Splice_Site_p.D495N|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Splice_Site_p.D372N|ABCG1_ENST00000398449.3_Splice_Site_p.D375N	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	387					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTGTCCTCAGGACTCCTCGTC	0.602																																						uc002zaq.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1159-1161)GAC>AAC		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						77.0	62.0	67.0					21																	43708321		2203	4300	6503	SO:0001630	splice_region_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43708321G>A	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1159-1G>A	21.37:g.43708321G>A						ABCG1_uc002zan.2_Missense_Mutation_p.D377N|ABCG1_uc002zam.2_Missense_Mutation_p.D353N|ABCG1_uc002zao.2_Missense_Mutation_p.D372N|ABCG1_uc002zap.2_Missense_Mutation_p.D375N|ABCG1_uc002zar.2_Missense_Mutation_p.D386N|ABCG1_uc011aev.1_Missense_Mutation_p.D398N|ABCG1_uc010gpb.1_Missense_Mutation_p.G27E	p.D387N	NM_004915	NP_004906	P45844	ABCG1_HUMAN			10	1265	+			387			Cytoplasmic (Potential).		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1159G>A	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.613|9.613	1.131817|1.131817	0.21041|0.21041	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588|ENST00000489035;ENST00000469119;ENST00000482161	T;T;T;D;T;D;D|.	0.86497|.	1.28;1.28;1.28;-1.96;1.28;-2.13;-2.1|.	4.31|4.31	2.43|2.43	0.29744|0.29744	.|.	0.295215|.	0.25211|.	N|.	0.032320|.	T|T	0.47097|0.47097	0.1427|0.1427	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B|.	0.04013|.	0.0;0.0;0.0;0.001;0.001;0.001|.	T|T	0.28964|0.28964	-1.0027|-1.0027	9|5	.|.	.|.	.|.	-34.3327|-34.3327	10.986|10.986	0.47523|0.47523	0.165:0.0:0.835:0.0|0.165:0.0:0.835:0.0	.|.	398;386;387;375;372;377|.	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3|.	.;.;ABCG1_HUMAN;.;.;.|.	N|E	377;372;375;387;386;533;495|122;110;110	ENSP00000381475:D377N;ENSP00000291524:D372N;ENSP00000381467:D375N;ENSP00000354995:D387N;ENSP00000339744:D386N;ENSP00000381464:D533N;ENSP00000343820:D495N|.	.|.	D|G	+|+	1|2	0|0	ABCG1|ABCG1	42581390|42581390	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.063000|0.063000	0.16089|0.16089	3.219000|3.219000	0.51200|0.51200	0.930000|0.930000	0.37217|0.37217	0.557000|0.557000	0.71058|0.71058	GAC|GGA		0.602	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174	Missense_Mutation	16	29	0	0	0	0	16	29				
RRP1	8568	broad.mit.edu	37	21	45213238	45213238	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45213238C>T	ENST00000497547.1	+	4	430	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C		NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GACCATGAATCGCGAGTGGAC	0.617																																						uc002zds.2		NA																	0					0						c.(313-315)CGC>TGC		ribosomal RNA processing 1 homolog							98.0	101.0	100.0					21																	45213238		1983	4152	6135	SO:0001583	missense	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45213238C>T	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.313C>T	21.37:g.45213238C>T	ENSP00000417464:p.Arg105Cys					RRP1_uc011aez.1_Missense_Mutation_p.R105C|RRP1_uc010gpk.1_5'UTR|RRP1_uc010gpl.1_Missense_Mutation_p.R3C	p.R105C	NM_003683	NP_003674	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	4	406	+			105					A6NIB2	Missense_Mutation	SNP	ENST00000497547.1	37	c.313C>T	CCDS42951.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731816	0.69189	.	.	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.51071	0.72	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.966;0.98	T	0.80774	-0.1232	10	0.87932	D	0	-18.3695	13.8584	0.63545	0.0:1.0:0.0:0.0	.	105;105	B4DZM3;P56182	.;RRP1_HUMAN	C	105	ENSP00000417464:R105C	ENSP00000383237:R105C	R	+	1	0	RRP1	44037666	0.989000	0.36119	0.296000	0.24974	0.941000	0.58515	2.606000	0.46291	1.989000	0.58080	0.511000	0.50034	CGC		0.617	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		23	86	0	0	0	0	23	86				
DNMT3L	29947	broad.mit.edu	37	21	45668976	45668976	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45668976G>A	ENST00000418993.1	-	11	1411	c.928C>T	c.(928-930)Cca>Tca	p.P310S	AP001059.5_ENST00000442785.1_RNA|DNMT3L_ENST00000270172.3_Missense_Mutation_p.P310S	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	310					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TGGACATCTGGGATGGTGACT	0.642																																						uc002zeg.1		NA																	0				skin(2)	2						c.(928-930)CCA>TCA		cytosine-5-methyltransferase 3-like protein							45.0	37.0	40.0					21																	45668976		2203	4300	6503	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45668976G>A	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.928C>T	21.37:g.45668976G>A	ENSP00000412862:p.Pro310Ser					DNMT3L_uc002zeh.1_Missense_Mutation_p.P310S	p.P310S	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	11	1412	-			310					E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.928C>T	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	G	7.887	0.731398	0.15507	.	.	ENSG00000142182	ENST00000270172;ENST00000418993	T;T	0.25579	1.79;1.79	3.03	3.03	0.35002	.	0.417558	0.23277	N	0.049946	T	0.15782	0.0380	N	0.22421	0.69	0.25450	N	0.988015	B;B	0.25850	0.136;0.136	B;B	0.18263	0.021;0.021	T	0.17228	-1.0376	10	0.59425	D	0.04	-16.9017	9.7837	0.40664	0.0:0.0:1.0:0.0	.	310;310	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	S	310	ENSP00000270172:P310S;ENSP00000412862:P310S	ENSP00000270172:P310S	P	-	1	0	DNMT3L	44493404	0.973000	0.33851	0.982000	0.44146	0.029000	0.11900	1.663000	0.37429	2.008000	0.58898	0.563000	0.77884	CCA		0.642	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		6	21	0	0	0	0	6	21				
AIRE	326	broad.mit.edu	37	21	45708290	45708290	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45708290G>A	ENST00000291582.5	+	5	728	c.601G>A	c.(601-603)Gga>Aga	p.G201R	AIRE_ENST00000355347.4_5'Flank|AIRE_ENST00000329347.4_5'Flank	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	201	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGACGTCCCGGGAGCCCGAGG	0.642									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													uc002zei.2		NA																	0				skin(1)	1						c.(601-603)GGA>AGA		autoimmune regulator isoform 1							70.0	74.0	73.0					21																	45708290		2202	4300	6502	SO:0001583	missense	326	Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45708290G>A	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.601G>A	21.37:g.45708290G>A	ENSP00000291582:p.Gly201Arg					AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	p.G201R	NM_000383	NP_000374	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	5	728	+			201			SAND.		B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.601G>A	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712786	0.48517	.	.	ENSG00000160224	ENST00000291582	T	0.71934	-0.61	3.61	3.61	0.41365	SAND domain-like (2);SAND domain (3);	0.000000	0.43260	D	0.000585	T	0.78214	0.4248	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74012	-0.3801	10	0.15499	T	0.54	-31.0093	11.4489	0.50140	0.0:0.0:1.0:0.0	.	201	O43918	AIRE_HUMAN	R	201	ENSP00000291582:G201R	ENSP00000291582:G201R	G	+	1	0	AIRE	44532718	0.759000	0.28416	0.459000	0.27081	0.235000	0.25334	2.351000	0.44071	1.955000	0.56771	0.205000	0.17691	GGA		0.642	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			19	73	0	0	0	0	19	73				
TRPM2	7226	broad.mit.edu	37	21	45833900	45833900	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45833900G>T	ENST00000397928.1	+	20	3534	c.3089G>T	c.(3088-3090)tGc>tTc	p.C1030F	TRPM2_ENST00000300481.9_Missense_Mutation_p.C1010F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.C1030F|AP001065.2_ENST00000423310.1_RNA|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.C1030F	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1030					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCTACTCTGCCTCTACCTG	0.647																																						uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3088-3090)TGC>TTC		transient receptor potential cation channel,							228.0	227.0	227.0					21																	45833900		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45833900G>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3089G>T	21.37:g.45833900G>T	ENSP00000381023:p.Cys1030Phe					TRPM2_uc002zeu.1_Missense_Mutation_p.C1030F|TRPM2_uc002zew.1_Missense_Mutation_p.C1030F|TRPM2_uc010gpt.1_Missense_Mutation_p.C1030F|TRPM2_uc002zex.1_Missense_Mutation_p.C816F|TRPM2_uc002zey.1_Missense_Mutation_p.C543F	p.C1030F	NM_003307	NP_003298	O94759	TRPM2_HUMAN			21	3302	+			1030			Helical; (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3089G>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138234	0.77775	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99841	1.1062	10	0.87932	D	0	-31.0807	18.1214	0.89572	0.0:0.0:1.0:0.0	.	1030;816;1030	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	F	1030;1030;1010;1030	ENSP00000300482:C1030F;ENSP00000381023:C1030F;ENSP00000300481:C1010F;ENSP00000381026:C1030F	ENSP00000300481:C1010F	C	+	2	0	TRPM2	44658328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.129000	0.94430	2.352000	0.79861	0.591000	0.81541	TGC		0.647	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		56	246	1	0	9.04e-38	9.42e-38	56	246				
KRTAP10-4	386672	broad.mit.edu	37	21	45993969	45993969	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45993969C>T	ENST00000400374.3	+	1	364	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	112	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CTGCTGCGTGCCCGTCTGCTG	0.637																																						uc002zfk.1		NA																	0					0						c.(334-336)CCC>TCC		keratin associated protein 10-4							61.0	58.0	59.0					21																	45993969		2197	4292	6489	SO:0001583	missense	386672					keratin filament		g.chr21:45993969C>T	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.334C>T	21.37:g.45993969C>T	ENSP00000383225:p.Pro112Ser					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P112S	NM_198687	NP_941960	P60372	KR104_HUMAN			1	364	+			112			36 X 5 AA repeats of C-C-X(3).|7.		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.334C>T	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	2.158	-0.392851	0.04899	.	.	ENSG00000215454	ENST00000400374	T	0.01051	5.4	4.13	2.15	0.27550	.	.	.	.	.	T	0.01156	0.0038	L	0.35341	1.055	0.09310	N	1	B	0.30281	0.275	B	0.29440	0.102	T	0.48980	-0.8986	9	0.37606	T	0.19	.	6.8677	0.24102	0.1931:0.7018:0.0:0.1051	.	112	P60372	KR104_HUMAN	S	112	ENSP00000383225:P112S	ENSP00000383225:P112S	P	+	1	0	KRTAP10-4	44818397	0.000000	0.05858	0.008000	0.14137	0.062000	0.15995	-0.187000	0.09656	0.772000	0.33382	0.479000	0.44913	CCC		0.637	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		11	67	0	0	0	0	11	67				
KRTAP12-3	386683	broad.mit.edu	37	21	46078117	46078117	+	Missense_Mutation	SNP	G	G	A	rs187686378		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46078117G>A	ENST00000397907.1	+	1	269	c.221G>A	c.(220-222)gGg>gAg	p.G74E	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	74	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAATCTTCGGGGTGCTGCCAG	0.642																																						uc002zft.2		NA																	0				central_nervous_system(1)	1						c.(220-222)GGG>GAG		keratin associated protein 12-3							68.0	76.0	73.0					21																	46078117		2108	4234	6342	SO:0001583	missense	386683					intermediate filament		g.chr21:46078117G>A	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.221G>A	21.37:g.46078117G>A	ENSP00000381005:p.Gly74Glu					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.G74E	NM_198697	NP_941970	P60328	KR123_HUMAN			1	269	+			74			10.|14 X 5 AA approximate repeats.			Missense_Mutation	SNP	ENST00000397907.1	37	c.221G>A	CCDS42964.1	.	.	.	.	.	.	.	.	.	.	g	9.718	1.158852	0.21454	.	.	ENSG00000205439	ENST00000546091;ENST00000397907	T	0.08282	3.11	3.55	-0.724	0.11177	.	.	.	.	.	T	0.03477	0.0100	.	.	.	0.09310	N	1	B	0.30584	0.286	B	0.17979	0.02	T	0.43114	-0.9411	8	0.24483	T	0.36	.	2.3771	0.04345	0.1127:0.3613:0.3414:0.1846	.	74	P60328	KR123_HUMAN	E	58;74	ENSP00000381005:G74E	ENSP00000381005:G74E	G	+	2	0	KRTAP12-3	44902545	0.001000	0.12720	0.002000	0.10522	0.069000	0.16628	0.666000	0.25097	-0.021000	0.14009	0.460000	0.39030	GGG		0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			28	59	0	0	0	0	28	59				
ITGB2	3689	broad.mit.edu	37	21	46326992	46326992	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46326992C>T	ENST00000397850.2	-	5	618	c.166G>A	c.(166-168)Gat>Aat	p.D56N	ITGB2_ENST00000523126.1_5'Flank|ITGB2_ENST00000397852.1_Missense_Mutation_p.D56N|ITGB2_ENST00000397857.1_Missense_Mutation_p.D56N|ITGB2_ENST00000355153.4_Missense_Mutation_p.D56N|ITGB2_ENST00000397854.3_Missense_Mutation_p.D56N|ITGB2_ENST00000302347.5_Missense_Mutation_p.D56N			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	56					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GAGTCAGGATCCCCCGGCCCT	0.657																																						uc002zgd.2		NA																	0				ovary(4)|central_nervous_system(3)|breast(2)	9						c.(166-168)GAT>AAT		integrin, beta 2 precursor	Simvastatin(DB00641)						53.0	53.0	53.0					21																	46326992		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46326992C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.166G>A	21.37:g.46326992C>T	ENSP00000380948:p.Asp56Asn					ITGB2_uc002zge.2_Missense_Mutation_p.D56N|ITGB2_uc002zgf.3_Missense_Mutation_p.D56N|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Missense_Mutation_p.D56N|ITGB2_uc002zgg.2_Missense_Mutation_p.D56N	p.D56N	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	3	210	-			56			Extracellular (Potential).		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.166G>A	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595715	0.46318	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216;ENST00000523663;ENST00000522931;ENST00000517563;ENST00000517819	D;D;D;D;D;D;D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04	4.17	4.17	0.49024	Integrin beta subunit, N-terminal (2);	.	.	.	.	D	0.85526	0.5717	N	0.19112	0.55	0.37360	D	0.911178	P;B	0.39964	0.697;0.093	B;B	0.36845	0.234;0.064	D	0.89170	0.3536	9	0.66056	D	0.02	.	14.345	0.66654	0.0:1.0:0.0:0.0	.	56;56	A8MYE6;P05107	.;ITB2_HUMAN	N	56;56;56;56;56;56;56;47;56;56;56;56	ENSP00000380950:D56N;ENSP00000380955:D56N;ENSP00000380952:D56N;ENSP00000347279:D56N;ENSP00000380948:D56N;ENSP00000303242:D56N;ENSP00000317697:D47N;ENSP00000428503:D56N;ENSP00000428979:D56N;ENSP00000428413:D56N;ENSP00000428870:D56N	ENSP00000303242:D56N	D	-	1	0	ITGB2	45151420	1.000000	0.71417	0.955000	0.39395	0.022000	0.10575	5.155000	0.64900	2.324000	0.78689	0.511000	0.50034	GAT		0.657	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		20	43	0	0	0	0	20	43				
ADARB1	104	broad.mit.edu	37	21	46596324	46596324	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46596324C>T	ENST00000360697.3	+	2	723	c.708C>T	c.(706-708)ccC>ccT	p.P236P	ADARB1_ENST00000348831.4_Silent_p.P236P|ADARB1_ENST00000539173.1_Silent_p.P236P|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Silent_p.P236P			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	236	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GGAAGAATCCCGTGATGATCT	0.607																																						uc002zgy.2		NA																	0				skin(1)	1						c.(706-708)CCC>CCT		RNA-specific adenosine deaminase B1 isoform 2							101.0	92.0	95.0					21																	46596324		2203	4300	6503	SO:0001819	synonymous_variant	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46596324C>T	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.708C>T	21.37:g.46596324C>T						ADARB1_uc002zgr.2_Silent_p.P236P|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.P236P|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.P236P|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.P285P	p.P236P	NM_015833	NP_056648	P78563	RED1_HUMAN		Colorectal(79;0.115)	4	1143	+			236			DRBM 2.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	c.708C>T	CCDS33589.1																																																																																				0.607	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		21	44	0	0	0	0	21	44				
SLC19A1	6573	broad.mit.edu	37	21	46950872	46950872	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46950872G>A	ENST00000311124.4	-	4	1115	c.963C>T	c.(961-963)tcC>tcT	p.S321S	SLC19A1_ENST00000567670.1_Silent_p.S321S|SLC19A1_ENST00000380010.4_Silent_p.S321S|SLC19A1_ENST00000485649.2_Silent_p.S281S	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	321					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CCGCGGCGAAGGACGTGATGG	0.706																																						uc002zhl.1		NA																	0					0						c.(961-963)TCC>TCT		solute carrier family 19 member 1							13.0	13.0	13.0					21																	46950872		2184	4264	6448	SO:0001819	synonymous_variant	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46950872G>A	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.963C>T	21.37:g.46950872G>A						SLC19A1_uc010gpy.1_Silent_p.S321S|SLC19A1_uc011aft.1_Silent_p.S281S|SLC19A1_uc002zhm.1_Silent_p.S321S|SLC19A1_uc010gpz.1_Silent_p.S200S	p.S321S	NM_194255	NP_919231	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	4	1082	-			321			Helical; (Probable).		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	c.963C>T	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	g	3.877	-0.026821	0.07589	.	.	ENSG00000173638	ENST00000417954	.	.	.	4.16	3.27	0.37495	.	.	.	.	.	T	0.60209	0.2251	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56420	-0.7982	4	.	.	.	-40.4818	10.6864	0.45846	0.097:0.0:0.903:0.0	.	.	.	.	L	56	.	.	P	-	2	0	SLC19A1	45775300	1.000000	0.71417	0.984000	0.44739	0.219000	0.24729	1.415000	0.34748	0.871000	0.35750	0.289000	0.19496	CCT		0.706	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			3	12	0	0	0	0	3	12				
SLC19A1	6573	broad.mit.edu	37	21	46951419	46951419	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46951419G>A	ENST00000311124.4	-	3	985	c.833C>T	c.(832-834)tCg>tTg	p.S278L	SLC19A1_ENST00000567670.1_Missense_Mutation_p.S278L|SLC19A1_ENST00000380010.4_Missense_Mutation_p.S278L|SLC19A1_ENST00000485649.2_Missense_Mutation_p.S238L	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	278					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GTAGCCGGCCGAGTTGAAGAC	0.672																																						uc002zhl.1		NA																	0					0						c.(832-834)TCG>TTG		solute carrier family 19 member 1							54.0	66.0	62.0					21																	46951419		2203	4300	6503	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951419G>A	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.833C>T	21.37:g.46951419G>A	ENSP00000308895:p.Ser278Leu					SLC19A1_uc010gpy.1_Missense_Mutation_p.S278L|SLC19A1_uc011aft.1_Missense_Mutation_p.S238L|SLC19A1_uc002zhm.1_Missense_Mutation_p.S278L|SLC19A1_uc010gpz.1_Missense_Mutation_p.S157L	p.S278L	NM_194255	NP_919231	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	952	-			278			Helical; (Probable).		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.833C>T	CCDS13725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.389426|3.389426	0.61956|0.61956	.|.	.|.	ENSG00000173638|ENSG00000173638	ENST00000417954|ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649	.|T;T;T	.|0.80566	.|-1.39;-1.39;-1.39	4.09|4.09	3.17|3.17	0.36434|0.36434	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.067504	.|0.64402	.|D	.|0.000009	D|D	0.82898|0.82898	0.5137|0.5137	L|L	0.39898|0.39898	1.24|1.24	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D;D	.|0.76494	.|0.997;0.997;0.999;0.997	.|P;P;D;P	.|0.65684	.|0.877;0.877;0.937;0.877	D|D	0.84382|0.84382	0.0550|0.0550	5|10	.|0.87932	.|D	.|0	-28.7685|-28.7685	11.5131|11.5131	0.50504|0.50504	0.0981:0.0:0.9019:0.0|0.0981:0.0:0.9019:0.0	.|.	.|238;300;278;278	.|B7Z8C3;D3DSM6;E9PFY4;P41440	.|.;.;.;S19A1_HUMAN	W|L	13|25;278;278;238	.|ENSP00000308895:S278L;ENSP00000369347:S278L;ENSP00000441772:S238L	.|ENSP00000308895:S278L	R|S	-|-	1|2	2|0	SLC19A1|SLC19A1	45775847|45775847	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.774000|0.774000	0.43823|0.43823	6.904000|6.904000	0.75708|0.75708	2.018000|2.018000	0.59344|0.59344	0.313000|0.313000	0.20887|0.20887	CGG|TCG		0.672	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			35	61	0	0	0	0	35	61				
IL17RA	23765	broad.mit.edu	37	22	17588619	17588619	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:17588619C>T	ENST00000319363.6	+	12	1181	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	350					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTTTCCAGGGCCTGGAAGTGA	0.463																																						uc002zly.2		NA																	0				skin(2)	2						c.(1048-1050)CCT>TCT		interleukin 17A receptor precursor							110.0	109.0	109.0					22																	17588619		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17588619C>T	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1048C>T	22.37:g.17588619C>T	ENSP00000320936:p.Pro350Ser					IL17RA_uc010gqt.2_Intron	p.P350S	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	12	1181	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	350			Cytoplasmic (Potential).		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1048C>T	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.269200	0.01421	.	.	ENSG00000177663	ENST00000319363	T	0.04862	3.54	3.83	1.63	0.23807	.	0.882726	0.09591	N	0.781576	T	0.02083	0.0065	N	0.02802	-0.49	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46693	-0.9173	10	0.06099	T	0.92	-1.4633	3.5255	0.07757	0.0:0.1309:0.2481:0.621	.	350	Q96F46	I17RA_HUMAN	S	350	ENSP00000320936:P350S	ENSP00000320936:P350S	P	+	1	0	IL17RA	15968619	0.000000	0.05858	0.106000	0.21319	0.129000	0.20672	0.082000	0.14847	0.312000	0.23038	-0.378000	0.06908	CCT		0.463	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		5	41	0	0	0	0	5	41				
CECR2	27443	broad.mit.edu	37	22	17976490	17976490	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:17976490G>A	ENST00000400573.5	+	3	218	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000262608.8_Missense_Mutation_p.E52K|CECR2_ENST00000342247.5_Missense_Mutation_p.E51K|CECR2_ENST00000497534.1_3'UTR			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	93					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTGGGAGCTCGAAGAAGGGAA	0.517																																						uc010gqw.1		NA																	0				ovary(1)|skin(1)	2						c.(151-153)GAA>AAA		cat eye syndrome chromosome region, candidate 2							65.0	68.0	67.0					22																	17976490		1989	4164	6153	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:17976490G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.211G>A	22.37:g.17976490G>A	ENSP00000383417:p.Glu71Lys					CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank	p.E51K	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	2	277	+		all_epithelial(15;0.139)	93					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400573.5	37	c.151G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.665276	0.88251	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.49720	0.77;0.77;0.77	5.34	5.34	0.76211	.	0.000000	0.36167	U	0.002747	T	0.70168	0.3193	M	0.76574	2.34	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.71097	-0.4691	10	0.52906	T	0.07	-15.2079	19.4167	0.94704	0.0:0.0:1.0:0.0	.	93	Q9BXF3	CECR2_HUMAN	K	51;71;52	ENSP00000341219:E51K;ENSP00000383417:E71K;ENSP00000262608:E52K	ENSP00000262608:E52K	E	+	1	0	CECR2	16356490	1.000000	0.71417	0.314000	0.25224	0.396000	0.30629	9.216000	0.95154	2.659000	0.90383	0.650000	0.86243	GAA		0.517	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316104.5	NM_031413		20	19	0	0	0	0	20	19				
MICAL3	57553	broad.mit.edu	37	22	18300221	18300221	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:18300221G>A	ENST00000441493.2	-	26	5558	c.5206C>T	c.(5206-5208)Ccc>Tcc	p.P1736S	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1736					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGGGACTTGGGTTTGGCGGCG	0.622																																						uc002zng.3		NA																	0					0						c.(5206-5208)CCC>TCC		microtubule associated monoxygenase, calponin							28.0	32.0	31.0					22																	18300221		1866	4085	5951	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18300221G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5206C>T	22.37:g.18300221G>A	ENSP00000416015:p.Pro1736Ser					MICAL3_uc011agl.1_Missense_Mutation_p.P1652S|MICAL3_uc010gre.1_5'Flank	p.P1736S	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	5559	-		all_epithelial(15;0.198)	1736					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.5206C>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	9.779	1.174782	0.21704	.	.	ENSG00000093100	ENST00000441493	T	0.62105	0.05	4.65	4.65	0.58169	.	0.199612	0.41194	D	0.000923	T	0.60818	0.2298	N	0.17082	0.46	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.55866	-0.8073	10	0.19590	T	0.45	.	13.1923	0.59717	0.0795:0.0:0.9205:0.0	.	1736	Q7RTP6	MICA3_HUMAN	S	1736	ENSP00000416015:P1736S	ENSP00000416015:P1736S	P	-	1	0	XXbac-B461K10.4	16680221	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	7.313000	0.78978	2.406000	0.81754	0.561000	0.74099	CCC		0.622	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			9	31	0	0	0	0	9	31				
CLTCL1	8218	broad.mit.edu	37	22	19217372	19217372	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19217372G>A	ENST00000263200.10	-	11	1843	c.1771C>T	c.(1771-1773)Cat>Tat	p.H591Y	CLTCL1_ENST00000353891.5_Missense_Mutation_p.H591Y|CLTCL1_ENST00000427926.1_Missense_Mutation_p.H591Y	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	591	Distal segment.|Heavy chain arm.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGGGGTGCATGAACAAGGTTC	0.512			T	?	ALCL																																	uc002zpb.2		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(1771-1773)CAT>TAT		clathrin, heavy polypeptide-like 1 isoform 1							44.0	44.0	44.0					22																	19217372		1995	4183	6178	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19217372G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1771C>T	22.37:g.19217372G>A	ENSP00000445677:p.His591Tyr					CLTCL1_uc011agv.1_Missense_Mutation_p.H591Y|CLTCL1_uc011agw.1_Missense_Mutation_p.H591Y	p.H591Y	NM_007098	NP_009029	P53675	CLH2_HUMAN			11	1846	-	Colorectal(54;0.0993)		591			Distal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.1771C>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604966	0.46423	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.18174	2.23;2.23;2.23	4.28	4.28	0.50868	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	L	0.45352	1.415	0.58432	D	0.999999	B;P	0.36010	0.003;0.532	B;P	0.49597	0.006;0.616	T	0.03597	-1.1021	10	0.16896	T	0.51	-16.5731	17.0799	0.86596	0.0:0.0:1.0:0.0	.	591;591	P53675-2;P53675	.;CLH2_HUMAN	Y	591	ENSP00000439662:H591Y;ENSP00000445677:H591Y;ENSP00000441158:H591Y	ENSP00000445677:H591Y	H	-	1	0	CLTCL1	17597372	1.000000	0.71417	0.900000	0.35374	0.514000	0.34195	8.875000	0.92372	2.088000	0.63022	0.650000	0.86243	CAT		0.512	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		4	11	0	0	0	0	4	11				
HIRA	7290	broad.mit.edu	37	22	19344534	19344534	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19344534C>G	ENST00000263208.5	-	19	2531	c.2275G>C	c.(2275-2277)Gtg>Ctg	p.V759L	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Missense_Mutation_p.V715L|HIRA_ENST00000546308.1_Missense_Mutation_p.V715L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	759	Interaction with PAX3. {ECO:0000250}.|Interaction with histone H2B.|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)					GTGGAGAACACTGACAGCATC	0.587																																						uc002zpf.1		NA																	0				ovary(1)	1						c.(2275-2277)GTG>CTG		HIR histone cell cycle regulation defective							298.0	231.0	253.0					22																	19344534		2203	4300	6503	SO:0001583	missense	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.chr22:19344534C>G	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.2275G>C	22.37:g.19344534C>G	ENSP00000263208:p.Val759Leu					HIRA_uc011agx.1_Missense_Mutation_p.V625L|HIRA_uc010grn.1_Intron|HIRA_uc010gro.1_Missense_Mutation_p.V715L|HIRA_uc010grp.2_RNA	p.V759L	NM_003325	NP_003316	P54198	HIRA_HUMAN			19	2495	-	Colorectal(54;0.0993)		759			Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.2275G>C	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564931	0.65651	.	.	ENSG00000100084	ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T	0.74106	-0.81;-0.66;-0.7	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	L	0.29908	0.895	0.80722	D	1	P;B	0.52316	0.952;0.061	P;B	0.45310	0.476;0.018	T	0.62812	-0.6775	10	0.24483	T	0.36	-16.4791	12.7952	0.57556	0.0:0.925:0.0:0.075	.	715;759	F5H4M2;P54198	.;HIRA_HUMAN	L	759;715;268;715	ENSP00000263208:V759L;ENSP00000446073:V715L;ENSP00000441870:V715L	ENSP00000263208:V759L	V	-	1	0	HIRA	17724534	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	5.584000	0.67490	2.592000	0.87571	0.655000	0.94253	GTG		0.587	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		33	125	0	0	0	0	33	125				
UFD1L	7353	broad.mit.edu	37	22	19444407	19444407	+	Missense_Mutation	SNP	G	G	A	rs372367334		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19444407G>A	ENST00000263202.10	-	8	728	c.599C>T	c.(598-600)cCc>cTc	p.P200L	AC000068.10_ENST00000608816.1_RNA|UFD1L_ENST00000360834.4_Missense_Mutation_p.P189L|UFD1L_ENST00000399523.1_Missense_Mutation_p.P200L|AC000068.9_ENST00000607934.1_RNA	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	200					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					Ttgtctttcgggttctttgta	0.468																																						uc002zpm.2		NA																	0					0						c.(598-600)CCC>CTC		ubiquitin fusion degradation 1-like isoform A		G	LEU/PRO,LEU/PRO	1,4403	2.1+/-5.4	0,1,2201	123.0	82.0	96.0		599,599	3.8	0.9	22		96	0,8600		0,0,4300	no	missense,missense	UFD1L	NM_001035247.2,NM_005659.6	98,98	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	200/267,200/308	19444407	1,13003	2202	4300	6502	SO:0001583	missense	7353				skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity	g.chr22:19444407G>A	AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.599C>T	22.37:g.19444407G>A	ENSP00000263202:p.Pro200Leu					UFD1L_uc002zpo.2_Missense_Mutation_p.P200L|UFD1L_uc011agy.1_Missense_Mutation_p.P200L|UFD1L_uc002zpp.2_Missense_Mutation_p.P153L	p.P200L	NM_005659	NP_005650	Q92890	UFD1_HUMAN			8	729	-	Colorectal(54;0.0993)		200					A8MW31|Q9Y5N0	Missense_Mutation	SNP	ENST00000263202.10	37	c.599C>T	CCDS13761.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373346	0.61624	2.27E-4	0.0	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000447868;ENST00000421968	T;T;T;T;T	0.61040	0.7;0.67;0.76;0.72;0.14	4.81	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	M	0.88450	2.955	0.80722	D	1	D;D	0.64830	0.992;0.994	D;D	0.66351	0.943;0.915	T	0.80679	-0.1275	10	0.72032	D	0.01	.	11.4336	0.50056	0.0847:0.0:0.9153:0.0	.	200;200	B4E3I3;Q92890	.;UFD1_HUMAN	L	200;189;200;236;104;189	ENSP00000263202:P200L;ENSP00000354079:P189L;ENSP00000382439:P200L;ENSP00000402136:P104L;ENSP00000406680:P189L	ENSP00000263202:P200L	P	-	2	0	UFD1L	17824407	1.000000	0.71417	0.893000	0.35052	0.580000	0.36256	5.161000	0.64935	1.400000	0.46741	-0.136000	0.14681	CCC		0.468	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6			7	11	0	0	0	0	7	11				
SEPT5	5413	broad.mit.edu	37	22	19709395	19709395	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19709395C>T	ENST00000455784.2	+	10	990	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	SEPT5_ENST00000406395.1_Missense_Mutation_p.P285L|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000438754.2_Missense_Mutation_p.P294L|SEPT5_ENST00000383045.3_Missense_Mutation_p.R298C	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	289	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CATGCTCATCCGCACGCATAT	0.652																																						uc002zpv.1		NA																	0				lung(1)	1						c.(865-867)CGC>TGC		septin 5							63.0	57.0	59.0					22																	19709395		2203	4299	6502	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709395C>T	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.865C>T	22.37:g.19709395C>T	ENSP00000391311:p.Arg289Cys					SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	p.R289C	NM_002688	NP_002679	Q99719	SEPT5_HUMAN			10	990	+	Colorectal(54;0.0993)		289					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.865C>T	CCDS13764.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.63|19.63	3.863583|3.863583	0.71949|0.71949	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000406395;ENST00000438754|ENST00000455784;ENST00000412544;ENST00000383045	T;T|T;T;T	0.48201|0.54279	0.82;0.82|0.58;0.58;0.58	3.67|3.67	3.67|3.67	0.42095|0.42095	.|.	.|0.079472	.|0.45361	.|D	.|0.000374	T|T	0.54127|0.54127	0.1839|0.1839	M|M	0.74467|0.74467	2.265|2.265	0.39362|0.39362	D|D	0.965935|0.965935	.|P	.|0.38195	.|0.622	.|B	.|0.36418	.|0.224	T|T	0.67998|0.67998	-0.5525|-0.5525	7|10	0.31617|0.72032	T|D	0.26|0.01	.|.	15.9441|15.9441	0.79779|0.79779	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|289	.|Q99719	.|SEPT5_HUMAN	L|C	285;294|289;242;298	ENSP00000384535:P285L;ENSP00000394541:P294L|ENSP00000391311:R289C;ENSP00000408678:R242C;ENSP00000372515:R298C	ENSP00000384535:P285L|ENSP00000372515:R298C	P|R	+|+	2|1	0|0	SEPT5|SEPT5	18089395|18089395	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.739000|3.739000	0.55075|0.55075	2.073000|2.073000	0.62155|0.62155	0.478000|0.478000	0.44815|0.44815	CCG|CGC		0.652	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		8	44	0	0	0	0	8	44				
TXNRD2	10587	broad.mit.edu	37	22	19865925	19865925	+	Silent	SNP	C	C	T	rs200312334		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19865925C>T	ENST00000400521.1	-	15	1317	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	TXNRD2_ENST00000400519.1_Silent_p.T436T|TXNRD2_ENST00000535882.1_Silent_p.T436T|TXNRD2_ENST00000400518.1_Silent_p.T407T|TXNRD2_ENST00000542719.1_Silent_p.T407T	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	437					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.T437T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GTCCAGCCACCGTGAACTCCA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		22808	0.0		0.001	False		,,,				2504	0.0					uc011ahc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1309-1311)ACG>ACA		thioredoxin reductase 2 precursor							175.0	189.0	184.0					22																	19865925		2119	4238	6357	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19865925C>T	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1311G>A	22.37:g.19865925C>T						TXNRD2_uc002zql.1_Silent_p.T191T|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.T436T|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Silent_p.T87T	p.T437T	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			15	1344	-	Colorectal(54;0.0993)		437					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	c.1311G>A	CCDS42981.1																																																																																				0.567	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		25	140	0	0	0	0	25	140				
SLC7A4	6545	broad.mit.edu	37	22	21385614	21385614	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:21385614G>A	ENST00000382932.2	-	2	555	c.488C>T	c.(487-489)cCc>cTc	p.P163L	MIR649_ENST00000384843.1_RNA|AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.P163L	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	163				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263). {ECO:0000305}.	basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCCAGGAGGGGCACCTGCCA	0.642																																						uc002zud.2		NA																	0				ovary(1)|lung(1)	2						c.(487-489)CCC>CTC		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						33.0	35.0	34.0					22																	21385614		2203	4299	6502	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21385614G>A	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.488C>T	22.37:g.21385614G>A	ENSP00000372390:p.Pro163Leu					SLC7A4_uc002zue.2_Missense_Mutation_p.P163L	p.P163L	NM_004173	NP_004164	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	556	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	163	THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263).				Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.488C>T	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138620	0.37728	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.87029	-2.2;-2.2	5.28	5.28	0.74379	Amino acid permease domain (1);	0.124076	0.56097	D	0.000032	D	0.91616	0.7351	M	0.92880	3.355	0.80722	D	1	B	0.29936	0.262	B	0.41813	0.367	D	0.89758	0.3945	10	0.34782	T	0.22	.	11.8309	0.52295	0.0:0.0:0.825:0.175	.	163	O43246	CTR4_HUMAN	L	163	ENSP00000384278:P163L;ENSP00000372390:P163L	ENSP00000372390:P163L	P	-	2	0	SLC7A4	19715614	1.000000	0.71417	0.997000	0.53966	0.037000	0.13140	7.326000	0.79133	2.626000	0.88956	0.561000	0.74099	CCC		0.642	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		6	18	0	0	0	0	6	18				
HIC2	23119	broad.mit.edu	37	22	21799757	21799757	+	Silent	SNP	C	C	T	rs571490200		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:21799757C>T	ENST00000443632.2	+	2	945	c.573C>T	c.(571-573)ctC>ctT	p.L191L	HIC2_ENST00000407464.2_Silent_p.L191L|HIC2_ENST00000407598.2_Silent_p.L191L			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	191					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CCCAGGAGCTCCCCCAAGCCA	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		13382	0.001		0.0	False		,,,				2504	0.0				NSCLC(23;437 858 2282 27947 40366)	uc002zur.3		NA																	0				skin(1)	1						c.(571-573)CTC>CTT		hypermethylated in cancer 2							10.0	13.0	12.0					22																	21799757		2139	4256	6395	SO:0001819	synonymous_variant	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21799757C>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.573C>T	22.37:g.21799757C>T						HIC2_uc002zus.3_Silent_p.L191L	p.L191L	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN			3	803	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	191					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	ENST00000443632.2	37	c.573C>T	CCDS13789.1																																																																																				0.677	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			5	17	0	0	0	0	5	17				
PPM1F	9647	broad.mit.edu	37	22	22277594	22277594	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:22277594G>A	ENST00000263212.5	-	8	1341	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	PPM1F_ENST00000538191.1_Silent_p.F308F|PPM1F_ENST00000407142.1_Silent_p.F244F	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	412					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GGTCCCTGAGGAAGACCACCA	0.687																																						uc002zvp.1		NA																	0				ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5						c.(1234-1236)TTC>TTT		protein phosphatase 1F							48.0	56.0	53.0					22																	22277594		2203	4300	6503	SO:0001819	synonymous_variant	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22277594G>A	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1236C>T	22.37:g.22277594G>A						PPM1F_uc011aik.1_Silent_p.F308F	p.F412F	NM_014634	NP_055449	P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	8	1350	-	Colorectal(54;0.105)		412					A8K6G3|B7Z2C3|Q96PM2	Silent	SNP	ENST00000263212.5	37	c.1236C>T	CCDS13796.1																																																																																				0.687	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		39	60	0	0	0	0	39	60				
GNAZ	2781	broad.mit.edu	37	22	23438266	23438266	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:23438266G>A	ENST00000248996.4	+	2	1050	c.384G>A	c.(382-384)atG>atA	p.M128I	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	128					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TGGGTGTCATGCGACGGCTCT	0.672																																						uc002zwu.1		NA																	0				kidney(1)|skin(1)	2						c.(382-384)ATG>ATA		guanine nucleotide binding protein, alpha z							54.0	54.0	54.0					22																	23438266		2203	4299	6502	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438266G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.384G>A	22.37:g.23438266G>A	ENSP00000248996:p.Met128Ile					RTDR1_uc002zwt.2_Intron	p.M128I	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	921	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		128					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.384G>A	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	3.106	-0.183726	0.06340	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.86030	-2.06	4.85	4.85	0.62838	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	N	0.04090	-0.28	0.80722	D	1	B	0.34313	0.448	B	0.40199	0.322	T	0.70831	-0.4765	10	0.02654	T	1	.	17.3371	0.87285	0.0:0.0:1.0:0.0	.	128	P19086	GNAZ_HUMAN	I	128;76	ENSP00000248996:M128I	ENSP00000248996:M128I	M	+	3	0	GNAZ	21768266	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	7.616000	0.83018	2.428000	0.82296	0.655000	0.94253	ATG		0.672	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		12	48	0	0	0	0	12	48				
RGL4	266747	broad.mit.edu	37	22	24038805	24038805	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:24038805G>A	ENST00000290691.5	+	7	2261	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	RGL4_ENST00000401461.1_Missense_Mutation_p.G228E|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	364	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGGCAGGCGGGGAGCTTTAAG	0.657																																						uc002zxn.2		NA																	0				ovary(1)	1						c.(1090-1092)GGG>GAG		ral guanine nucleotide dissociation							39.0	40.0	40.0					22																	24038805		2202	4299	6501	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24038805G>A		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.1091G>A	22.37:g.24038805G>A	ENSP00000290691:p.Gly364Glu					LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.G364E|RGL4_uc002zxp.1_Missense_Mutation_p.G228E|RGL4_uc002zxq.2_Missense_Mutation_p.G228E	p.G364E	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN			7	2261	+			364			Ras-GEF.		Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.1091G>A	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	g	12.93	2.086306	0.36855	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.37584	1.19;1.49;1.31	1.94	-0.332	0.12675	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.682080	0.12544	U	0.459638	T	0.43500	0.1250	M	0.67625	2.065	0.09310	N	1	B;P;P;P	0.51147	0.387;0.942;0.77;0.8	B;P;P;P	0.53102	0.312;0.718;0.525;0.577	T	0.31223	-0.9951	10	0.72032	D	0.01	.	5.8033	0.18426	0.3237:0.0:0.6763:0.0	.	228;228;364;364	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	E	228;364;364;364	ENSP00000383951:G228E;ENSP00000290691:G364E;ENSP00000402142:G364E	ENSP00000290691:G364E	G	+	2	0	RGL4	22368805	0.987000	0.35691	0.001000	0.08648	0.006000	0.05464	0.868000	0.27982	-0.028000	0.13850	0.543000	0.68304	GGG		0.657	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		3	31	0	0	0	0	3	31				
CABIN1	23523	broad.mit.edu	37	22	24573698	24573698	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:24573698C>T	ENST00000398319.2	+	36	6817	c.6432C>T	c.(6430-6432)ttC>ttT	p.F2144F	CABIN1_ENST00000263119.5_Silent_p.F2144F|CABIN1_ENST00000337989.7_Silent_p.F514F|CABIN1_ENST00000405822.2_Silent_p.F2065F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2144	Required for interaction with calcineurin. {ECO:0000250}.				cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCACCAAGTTCCCCCCTGAGA	0.657																																						uc002zzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(6430-6432)TTC>TTT		calcineurin binding protein 1							72.0	59.0	63.0					22																	24573698		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24573698C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.6432C>T	22.37:g.24573698C>T						CABIN1_uc002zzj.1_Silent_p.F2065F|CABIN1_uc002zzl.1_Silent_p.F2144F|CABIN1_uc010gul.1_Silent_p.F82F	p.F2144F	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			36	6559	+			2144			Required for interaction with calcineurin (By similarity).		G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.6432C>T	CCDS13823.1																																																																																				0.657	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		14	23	0	0	0	0	14	23				
ASPHD2	57168	broad.mit.edu	37	22	26830270	26830270	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:26830270C>T	ENST00000215906.5	+	2	1127	c.689C>T	c.(688-690)aCc>aTc	p.T230I		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	230					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GAGTGGTTCACCTTTTACTTG	0.537																																						uc003acg.2		NA																	0				ovary(1)	1						c.(688-690)ACC>ATC		aspartate beta-hydroxylase domain containing 2							101.0	92.0	95.0					22																	26830270		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26830270C>T	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.689C>T	22.37:g.26830270C>T	ENSP00000215906:p.Thr230Ile						p.T230I	NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN			2	1086	+			230			Lumenal (Potential).		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.689C>T	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618281	0.66787	.	.	ENSG00000128203	ENST00000215906	T	0.42900	0.96	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	L	0.50993	1.605	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.49409	-0.8943	10	0.21014	T	0.42	-39.8473	17.0945	0.86631	0.0:1.0:0.0:0.0	.	230	Q6ICH7	ASPH2_HUMAN	I	230	ENSP00000215906:T230I	ENSP00000215906:T230I	T	+	2	0	ASPHD2	25160270	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.237000	0.65360	2.498000	0.84270	0.557000	0.71058	ACC		0.537	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		13	68	0	0	0	0	13	68				
CHEK2	11200	broad.mit.edu	37	22	29083922	29083922	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:29083922G>A	ENST00000405598.1	-	16	1786	c.1595C>T	c.(1594-1596)aCc>aTc	p.T532I	CHEK2_ENST00000328354.6_Missense_Mutation_p.T532I|CHEK2_ENST00000402731.1_Missense_Mutation_p.T503I|CHEK2_ENST00000382565.1_Missense_Mutation_p.T152I|CHEK2_ENST00000382578.1_Missense_Mutation_p.T441I|CHEK2_ENST00000404276.1_Missense_Mutation_p.T532I|CHEK2_ENST00000348295.3_Missense_Mutation_p.T503I|CHEK2_ENST00000403642.1_Missense_Mutation_p.T441I|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Missense_Mutation_p.T311I|CHEK2_ENST00000382580.2_Missense_Mutation_p.T575I			O96017	CHK2_HUMAN	checkpoint kinase 2	532					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GCGCTTTGTGGTCTCGGCACC	0.468			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NA	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			0				central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1594-1596)ACC>ATC	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							42.0	44.0	43.0					22																	29083922		1363	2302	3665	SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29083922G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1595C>T	22.37:g.29083922G>A	ENSP00000386087:p.Thr532Ile					CHEK2_uc003ads.1_Missense_Mutation_p.T311I|CHEK2_uc010gvh.1_Missense_Mutation_p.T441I|CHEK2_uc010gvi.1_Missense_Mutation_p.T381I|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.T575I|CHEK2_uc003adv.1_Missense_Mutation_p.T503I|CHEK2_uc003adw.1_Missense_Mutation_p.T532I|CHEK2_uc003adx.1_Missense_Mutation_p.T311I|CHEK2_uc003ady.1_Missense_Mutation_p.T521I|CHEK2_uc003adz.1_Missense_Mutation_p.T336I	p.T532I	NM_007194	NP_009125	O96017	CHK2_HUMAN			15	1667	-			532					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1595C>T	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.85|12.85	2.061632|2.061632	0.36373|0.36373	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000434810;ENST00000456369|ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.|T;T;T;T;T;T;T;T;T;T	.|0.67523	.|0.79;-0.2;-0.27;-0.2;-0.18;-0.18;-0.18;-0.17;-0.2;0.79	4.76|4.76	2.56|2.56	0.30785|0.30785	.|.	.|0.734271	.|0.13200	.|N	.|0.406060	T|T	0.45034|0.45034	0.1322|0.1322	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999993|0.999993	.|P;B;B;B;B;B	.|0.38767	.|0.646;0.006;0.112;0.145;0.112;0.365	.|B;B;B;B;B;B	.|0.34652	.|0.187;0.003;0.021;0.034;0.021;0.111	T|T	0.24621|0.24621	-1.0155|-1.0155	5|10	.|0.48119	.|T	.|0.1	-18.5294|-18.5294	7.7369|7.7369	0.28819|0.28819	0.0:0.1881:0.6319:0.1799|0.0:0.1881:0.6319:0.1799	.|.	.|441;311;532;503;532;575	.|O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.|.;.;.;.;CHK2_HUMAN;.	S|I	265;133|503;441;152;215;311;532;532;532;575;441;503	.|ENSP00000329012:T503I;ENSP00000372021:T441I;ENSP00000372006:T152I;ENSP00000442458:T311I;ENSP00000329178:T532I;ENSP00000385747:T532I;ENSP00000386087:T532I;ENSP00000372023:T575I;ENSP00000384919:T441I;ENSP00000384835:T503I	.|ENSP00000329178:T532I	P|T	-|-	1|2	0|0	CHEK2|CHEK2	27413922|27413922	0.296000|0.296000	0.24398|0.24398	0.027000|0.027000	0.17364|0.17364	0.253000|0.253000	0.25986|0.25986	2.015000|2.015000	0.40961|0.40961	0.489000|0.489000	0.27749|0.27749	-0.321000|-0.321000	0.08615|0.08615	CCA|ACC		0.468	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		9	33	0	0	0	0	9	33				
NEFH	4744	broad.mit.edu	37	22	29885337	29885337	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:29885337G>A	ENST00000310624.6	+	4	1741	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	570	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCAGAGAAGGAGGAAGCAAA	0.567																																						uc003afo.2		NA																	0					0						c.(1708-1710)GAG>AAG		neurofilament, heavy polypeptide 200kDa							67.0	69.0	68.0					22																	29885337		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29885337G>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1708G>A	22.37:g.29885337G>A	ENSP00000311997:p.Glu570Lys					NEFH_uc003afp.2_Intron	p.E570K	NM_021076	NP_066554	P12036	NFH_HUMAN			4	1779	+			570			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.1708G>A	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193534	0.58017	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	T	0.35789	1.29	5.35	-2.31	0.06765	.	0.575383	0.15656	N	0.251116	T	0.26122	0.0637	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.22347	-1.0219	10	0.66056	D	0.02	.	3.5969	0.08009	0.1973:0.3645:0.337:0.1011	.	570	P12036	NFH_HUMAN	K	570	ENSP00000311997:E570K	ENSP00000311997:E570K	E	+	1	0	NEFH	28215337	0.271000	0.24162	0.000000	0.03702	0.329000	0.28539	0.581000	0.23819	-0.452000	0.07087	0.591000	0.81541	GAG		0.567	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		8	66	0	0	0	0	8	66				
THOC5	8563	broad.mit.edu	37	22	29927884	29927884	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:29927884G>A	ENST00000490103.1	-	8	905	c.783C>T	c.(781-783)gcC>gcT	p.A261A	THOC5_ENST00000397872.1_Silent_p.A261A|THOC5_ENST00000397871.1_Silent_p.A261A|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Silent_p.A261A	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	261					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCAGGTGTCTGGCTGTCTCAT	0.557																																						uc003afr.2		NA																	0				breast(3)	3						c.(781-783)GCC>GCT		THO complex 5							99.0	79.0	86.0					22																	29927884		2203	4300	6503	SO:0001819	synonymous_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29927884G>A	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.783C>T	22.37:g.29927884G>A						THOC5_uc003afs.2_Silent_p.A261A|THOC5_uc003aft.2_Silent_p.A261A|THOC5_uc003afu.2_Silent_p.A261A|THOC5_uc010gvo.2_Missense_Mutation_p.P4L|THOC5_uc003afv.1_Silent_p.A261A	p.A261A	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN			9	1118	-			261					O60839|Q9UPZ5	Silent	SNP	ENST00000490103.1	37	c.783C>T	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495425	0.26774	.	.	ENSG00000100296	ENST00000443089	.	.	.	6.04	-5.11	0.02901	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.7129	2.8375	0.05519	0.3764:0.1827:0.348:0.0929	.	.	.	.	X	121	.	.	Q	-	1	0	THOC5	28257884	0.228000	0.23718	0.984000	0.44739	0.977000	0.68977	-0.320000	0.08028	-0.322000	0.08615	-0.300000	0.09419	CAG		0.557	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		13	29	0	0	0	0	13	29				
OSM	5008	broad.mit.edu	37	22	30660007	30660007	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:30660007G>A	ENST00000215781.2	-	3	664	c.624C>T	c.(622-624)gtC>gtT	p.V208V	OSM_ENST00000403389.1_Silent_p.V187V	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	208					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			ACTTGCTGAAGACCCGCCCCA	0.667																																						uc003ahb.2		NA																	0				skin(1)	1						c.(622-624)GTC>GTT		oncostatin M precursor							42.0	45.0	44.0					22																	30660007		2203	4300	6503	SO:0001819	synonymous_variant	5008				cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	g.chr22:30660007G>A	AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.624C>T	22.37:g.30660007G>A							p.V208V	NM_020530	NP_065391	P13725	ONCM_HUMAN	Epithelial(10;0.206)		3	676	-			208					Q6FHP8|Q9UCP6	Silent	SNP	ENST00000215781.2	37	c.624C>T	CCDS13873.1																																																																																				0.667	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1	NM_020530		12	50	0	0	0	0	12	50				
SEC14L2	23541	broad.mit.edu	37	22	30818340	30818340	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:30818340C>T	ENST00000312932.9	+	12	1416	c.1156C>T	c.(1156-1158)Cca>Tca	p.P386S	RP4-539M6.21_ENST00000608952.1_RNA|RP4-539M6.20_ENST00000608677.1_RNA|RP4-539M6.19_ENST00000439838.1_Intron|RNU6-564P_ENST00000410983.1_RNA|SEC14L2_ENST00000403484.1_Missense_Mutation_p.P312S|SEC14L2_ENST00000402592.3_Missense_Mutation_p.P303S	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	386					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GGTCCTGCTTCCAGACAAAGC	0.527																																						uc003ahr.2		NA																	0					0						c.(1156-1158)CCA>TCA		SEC14-like 2 isoform 1	Vitamin E(DB00163)						96.0	92.0	93.0					22																	30818340		2203	4300	6503	SO:0001583	missense	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30818340C>T	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.1156C>T	22.37:g.30818340C>T	ENSP00000316203:p.Pro386Ser					SEC14L2_uc011akx.1_Missense_Mutation_p.P332S|SEC14L2_uc003ahs.2_Missense_Mutation_p.P312S|SEC14L2_uc011aky.1_Missense_Mutation_p.P303S|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Intron|MTP18_uc010gvy.1_Intron	p.P386S	NM_012429	NP_036561	O76054	S14L2_HUMAN			12	1329	+			386					B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation	SNP	ENST00000312932.9	37	c.1156C>T	CCDS13876.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196460	0.94960	.	.	ENSG00000100003	ENST00000312932;ENST00000403484;ENST00000402592	T;T;T	0.42513	0.97;0.97;0.97	5.1	5.1	0.69264	GOLD (1);	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.995	D;P;P	0.71184	0.972;0.891;0.843	T	0.69847	-0.5034	10	0.66056	D	0.02	-0.8616	18.3039	0.90174	0.0:1.0:0.0:0.0	.	303;312;386	F5H3U4;B3KRD8;O76054	.;.;S14L2_HUMAN	S	386;312;303	ENSP00000316203:P386S;ENSP00000383993:P312S;ENSP00000383882:P303S	ENSP00000316203:P386S	P	+	1	0	SEC14L2	29148340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.107000	0.77047	2.660000	0.90430	0.655000	0.94253	CCA		0.527	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		19	65	0	0	0	0	19	65				
MORC2	22880	broad.mit.edu	37	22	31328351	31328351	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:31328351G>A	ENST00000397641.3	-	24	3244	c.2836C>T	c.(2836-2838)Cct>Tct	p.P946S	MORC2_ENST00000215862.4_Missense_Mutation_p.P884S|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	946						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTCACCAGAGGAAAAGATATT	0.463																																						uc003aje.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2650-2652)CCT>TCT		MORC family CW-type zinc finger 2							137.0	125.0	129.0					22																	31328351		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31328351G>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2836C>T	22.37:g.31328351G>A	ENSP00000380763:p.Pro946Ser						p.P884S	NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN			25	4014	-			946					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.2650C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.847734|4.847734	0.91277|0.91277	.|.	.|.	ENSG00000133422|ENSG00000133422	ENST00000397641;ENST00000215862|ENST00000445980	T;T|.	0.53206|.	0.66;0.63|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.050263|.	0.85682|.	D|.	0.000000|.	T|T	0.74382|0.74382	0.3709|0.3709	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.71213|0.71213	-0.4659|-0.4659	10|5	0.42905|.	T|.	0.14|.	.|.	19.7305|19.7305	0.96180|0.96180	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	946|.	Q9Y6X9|.	MORC2_HUMAN|.	S|F	946;884|107	ENSP00000380763:P946S;ENSP00000215862:P884S|.	ENSP00000215862:P884S|.	P|S	-|-	1|2	0|0	MORC2|MORC2	29658351|29658351	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.944000|0.944000	0.59088|0.59088	7.318000|7.318000	0.79029|0.79029	2.745000|2.745000	0.94114|0.94114	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.463	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		22	70	0	0	0	0	22	70				
INPP5J	27124	broad.mit.edu	37	22	31522645	31522645	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:31522645C>T	ENST00000331075.5	+	4	1481	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000404390.3_Missense_Mutation_p.L110F|INPP5J_ENST00000405300.1_Missense_Mutation_p.L111F|INPP5J_ENST00000412277.2_Missense_Mutation_p.L411F|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000400294.2_Missense_Mutation_p.L111F	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	478	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAAGGACGCCCTCTTCACGGA	0.617																																						uc003aju.3		NA																	0				skin(1)	1						c.(1432-1434)CTC>TTC		phosphatidylinositol (4,5) bisphosphate							165.0	171.0	169.0					22																	31522645		2092	4221	6313	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31522645C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1432C>T	22.37:g.31522645C>T	ENSP00000333262:p.Leu478Phe					INPP5J_uc010gwf.2_Missense_Mutation_p.L478F|INPP5J_uc003ajv.3_Missense_Mutation_p.L111F|INPP5J_uc003ajs.3_Missense_Mutation_p.L111F|INPP5J_uc011alk.1_Missense_Mutation_p.L411F|INPP5J_uc010gwg.2_Missense_Mutation_p.L43F|INPP5J_uc003ajw.2_5'UTR|INPP5J_uc003ajt.3_Missense_Mutation_p.L110F|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	p.L478F	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			4	1524	+			478			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.1432C>T		.	.	.	.	.	.	.	.	.	.	C	21.8	4.199709	0.79015	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000420017;ENST00000400294;ENST00000405300;ENST00000404390	T;T;D;T;T;T	0.95307	-1.46;-1.46;-3.67;-1.46;-1.46;-1.46	4.28	4.28	0.50868	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	L	0.56199	1.76	0.58432	D	0.999997	D;B	0.60160	0.987;0.011	D;B	0.64506	0.926;0.015	D	0.94914	0.8067	10	0.33940	T	0.23	.	17.6194	0.88076	0.0:1.0:0.0:0.0	.	478;110	Q15735;Q15735-3	PI5PA_HUMAN;.	F	478;411;43;111;111;110	ENSP00000333262:L478F;ENSP00000392924:L411F;ENSP00000406570:L43F;ENSP00000383150:L111F;ENSP00000384596:L111F;ENSP00000384534:L110F	ENSP00000333262:L478F	L	+	1	0	INPP5J	29852645	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.413000	0.59795	2.329000	0.79093	0.561000	0.74099	CTC		0.617	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		39	150	0	0	0	0	39	150				
SFI1	9814	broad.mit.edu	37	22	31979928	31979928	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:31979928C>T	ENST00000400288.2	+	13	1421	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	SFI1_ENST00000414585.1_Missense_Mutation_p.P286L|SFI1_ENST00000432498.1_Missense_Mutation_p.P408L|SFI1_ENST00000443326.1_Missense_Mutation_p.P357L|SFI1_ENST00000540643.1_Missense_Mutation_p.P384L|SFI1_ENST00000400289.1_Missense_Mutation_p.P357L|SFI1_ENST00000443011.1_Missense_Mutation_p.P286L	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	439					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GAGCTGCTCCCCTTACTGCAT	0.512																																						uc003ale.2		NA																	0				central_nervous_system(1)	1						c.(1315-1317)CCC>CTC		spindle assembly associated Sfi1 homolog isoform							142.0	144.0	144.0					22																	31979928		1995	4173	6168	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31979928C>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1316C>T	22.37:g.31979928C>T	ENSP00000383145:p.Pro439Leu					SFI1_uc003ald.1_Missense_Mutation_p.P415L|SFI1_uc003alf.2_Missense_Mutation_p.P408L|SFI1_uc003alg.2_Missense_Mutation_p.P357L|SFI1_uc011alp.1_Missense_Mutation_p.P357L|SFI1_uc011alq.1_Missense_Mutation_p.P384L|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	p.P439L	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			13	1709	+			439					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.1316C>T	CCDS43004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.83|15.83	2.949813|2.949813	0.53186|0.53186	.|.	.|.	ENSG00000198089|ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682|ENST00000425671	T;T;T;T;T;T;T;T|.	0.59502|.	2.95;2.97;0.26;0.26;0.26;0.26;0.26;2.41|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.406771|0.406771	0.27096|0.27096	N|N	0.020949|0.020949	T|T	0.33089|0.33089	0.0851|0.0851	N|N	0.08118|0.08118	0|0	0.26670|0.26670	N|N	0.971752|0.971752	D;D;D;D;D;D|.	0.89917|.	0.998;0.993;1.0;0.997;1.0;0.999|.	D;P;D;D;D;D|.	0.91635|.	0.928;0.892;0.999;0.928;0.999;0.987|.	T|T	0.40421|0.40421	-0.9564|-0.9564	10|7	0.72032|0.87932	D|D	0.01|0	.|.	15.9221|15.9221	0.79583|0.79583	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	384;357;357;408;439;415|.	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5|.	.;.;.;.;SFI1_HUMAN;.|.	L|S	408;384;357;415;286;286;357;439;54|13	ENSP00000402679:P408L;ENSP00000443025:P384L;ENSP00000416469:P357L;ENSP00000397148:P286L;ENSP00000401199:P286L;ENSP00000383146:P357L;ENSP00000383145:P439L;ENSP00000398871:P54L|.	ENSP00000383145:P439L|ENSP00000416931:P13S	P|P	+|+	2|1	0|0	SFI1|SFI1	30309928|30309928	0.055000|0.055000	0.20627|0.20627	0.466000|0.466000	0.27168|0.27168	0.227000|0.227000	0.25037|0.25037	4.205000|4.205000	0.58466|0.58466	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.512	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		63	113	0	0	0	0	63	113				
SLC5A1	6523	broad.mit.edu	37	22	32480501	32480501	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:32480501G>A	ENST00000266088.4	+	8	990	c.740G>A	c.(739-741)gGc>gAc	p.G247D	SLC5A1_ENST00000543737.1_Missense_Mutation_p.G120D	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	247					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GTGTCTGATGGCAACACCACC	0.502																																						uc003amc.2		NA																	0				skin(1)	1						c.(739-741)GGC>GAC		solute carrier family 5 (sodium/glucose							148.0	110.0	123.0					22																	32480501		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32480501G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.740G>A	22.37:g.32480501G>A	ENSP00000266088:p.Gly247Asp					SLC5A1_uc011alz.1_Missense_Mutation_p.G120D	p.G247D	NM_000343	NP_000334	P13866	SC5A1_HUMAN			8	972	+			247			Extracellular (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.740G>A	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	G	0.467	-0.886484	0.02511	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.89343	-2.18;-2.5	5.06	1.8	0.24995	.	0.338596	0.33834	N	0.004518	T	0.70596	0.3242	N	0.05158	-0.105	0.09310	N	1	B	0.12630	0.006	B	0.17722	0.019	T	0.55496	-0.8132	10	0.10902	T	0.67	.	5.7349	0.18061	0.2235:0.1413:0.6351:0.0	.	247	P13866	SC5A1_HUMAN	D	247;120	ENSP00000266088:G247D;ENSP00000444898:G120D	ENSP00000266088:G247D	G	+	2	0	SLC5A1	30810501	1.000000	0.71417	0.074000	0.20217	0.000000	0.00434	1.324000	0.33712	0.254000	0.21573	-0.469000	0.05056	GGC		0.502	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		16	34	0	0	0	0	16	34				
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	C	T	rs372031013		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:35478537C>T	ENST00000308700.6	+	2	1208	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	ISX_ENST00000404699.2_Missense_Mutation_p.R86C	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	86					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R86C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557																																						uc003anj.2		NA																	2	Substitution - Missense(2)		skin(2)	ovary(3)|skin(2)	5						c.(256-258)CGT>TGT		intestine-specific homeobox		C	CYS/ARG	0,4406		0,0,2203	148.0	118.0	128.0		256	3.9	0.0	22		128	2,8598	2.2+/-6.3	0,2,4298	no	missense	ISX	NM_001008494.1	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	86/246	35478537	2,13004	2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35478537C>T	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.256C>T	22.37:g.35478537C>T	ENSP00000311492:p.Arg86Cys					ISX_uc011amg.1_Missense_Mutation_p.R74C	p.R86C	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			2	1207	+			86			Homeobox.		Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.256C>T	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022102	0.54576	0.0	2.33E-4	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.99186	-5.53;-5.53	4.94	3.89	0.44902	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.50627	D	0.000106	D	0.99641	0.9868	H	0.99859	4.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.97306	0.9934	10	0.87932	D	0	.	12.092	0.53733	0.1733:0.8267:0.0:0.0	.	86	Q2M1V0	ISX_HUMAN	C	86	ENSP00000311492:R86C;ENSP00000386037:R86C	ENSP00000311492:R86C	R	+	1	0	ISX	33808537	0.934000	0.31675	0.035000	0.18076	0.662000	0.39071	1.985000	0.40668	1.232000	0.43678	0.650000	0.86243	CGT		0.557	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		31	44	0	0	0	0	31	44				
TOM1	10043	broad.mit.edu	37	22	35723363	35723363	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:35723363G>A	ENST00000449058.2	+	7	873	c.748G>A	c.(748-750)Gac>Aac	p.D250N	TOM1_ENST00000447733.1_Missense_Mutation_p.D217N|TOM1_ENST00000382034.5_Missense_Mutation_p.D183N|TOM1_ENST00000425375.1_Missense_Mutation_p.D205N|TOM1_ENST00000436462.2_Missense_Mutation_p.D212N|TOM1_ENST00000411850.1_Missense_Mutation_p.D250N	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	250	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CGAGCCCGCAGACCTGGAGCT	0.627																																						uc003ann.2		NA																	0				ovary(1)	1						c.(748-750)GAC>AAC		target of myb1 isoform 1							96.0	75.0	82.0					22																	35723363		2203	4300	6503	SO:0001583	missense	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35723363G>A	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.748G>A	22.37:g.35723363G>A	ENSP00000394466:p.Asp250Asn					TOM1_uc011ami.1_Missense_Mutation_p.D217N|TOM1_uc011amj.1_Missense_Mutation_p.D93N|TOM1_uc003ans.2_Missense_Mutation_p.D93N|TOM1_uc011amk.1_Missense_Mutation_p.D212N|TOM1_uc003anp.2_Missense_Mutation_p.D250N|TOM1_uc011aml.1_Missense_Mutation_p.D205N|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.D244N|TOM1_uc003anr.2_Missense_Mutation_p.D93N	p.D250N	NM_005488	NP_005479	O60784	TOM1_HUMAN			7	873	+			250			GAT.		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	ENST00000449058.2	37	c.748G>A	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586469	0.86851	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000451197;ENST00000436462;ENST00000382034	T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.38	5.38	0.77491	GAT (2);	0.087086	0.85682	D	0.000000	T	0.70911	0.3278	M	0.76838	2.35	0.80722	D	1	P;D;P;D;D	0.89917	0.946;1.0;0.868;1.0;0.997	P;D;P;D;D	0.97110	0.507;1.0;0.85;0.999;0.936	T	0.71424	-0.4597	10	0.45353	T	0.12	-0.0219	19.1454	0.93463	0.0:0.0:1.0:0.0	.	205;212;259;250;250	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	N	217;244;250;250;205;259;212;183	ENSP00000398876:D217N;ENSP00000393714:D244N;ENSP00000394466:D250N;ENSP00000413697:D250N;ENSP00000394924:D205N;ENSP00000402556:D212N;ENSP00000371465:D183N	ENSP00000371465:D183N	D	+	1	0	TOM1	34053363	1.000000	0.71417	0.994000	0.49952	0.745000	0.42441	7.838000	0.86804	2.515000	0.84797	0.650000	0.86243	GAC		0.627	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		4	31	0	0	0	0	4	31				
APOL1	8542	broad.mit.edu	37	22	36661678	36661678	+	Missense_Mutation	SNP	C	C	T	rs41311348		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:36661678C>T	ENST00000397278.3	+	6	1025	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	APOL1_ENST00000319136.4_Missense_Mutation_p.L282F|APOL1_ENST00000426053.1_Missense_Mutation_p.L248F|APOL1_ENST00000397279.4_Missense_Mutation_p.L266F|APOL1_ENST00000347595.7_Missense_Mutation_p.L145F|APOL1_ENST00000422706.1_Missense_Mutation_p.L266F	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	266					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						ATCCAACTTTCTTTCCTTAGC	0.507																																						uc003apf.2		NA																	0				breast(2)|ovary(1)	3						c.(796-798)CTT>TTT		apolipoprotein L1 isoform a precursor							117.0	110.0	112.0					22																	36661678		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661678C>T	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.796C>T	22.37:g.36661678C>T	ENSP00000380448:p.Leu266Phe					APOL1_uc011amn.1_Missense_Mutation_p.L143F|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.L282F|APOL1_uc011amo.1_Missense_Mutation_p.L143F|APOL1_uc011amp.1_Missense_Mutation_p.L266F|APOL1_uc011amq.1_Missense_Mutation_p.L248F|APOL1_uc010gwx.2_Missense_Mutation_p.L143F	p.L266F	NM_003661	NP_003652	O14791	APOL1_HUMAN			6	964	+			266					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.796C>T	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	c	10.92	1.486486	0.26686	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000347595;ENST00000397279	T;T;T;T;T;T	0.03801	3.8;3.8;3.8;3.8;3.8;3.8	3.12	-6.25	0.02039	.	3.941500	0.00357	N	0.000038	T	0.11707	0.0285	L	0.60455	1.87	0.09310	N	1	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.68483	0.958;0.924;0.929	T	0.44003	-0.9356	10	0.27785	T	0.31	.	1.7638	0.02998	0.2168:0.4018:0.225:0.1564	.	248;266;282	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	F	266;266;248;282;145;266	ENSP00000380448:L266F;ENSP00000411507:L266F;ENSP00000388477:L248F;ENSP00000317674:L282F;ENSP00000216178:L145F;ENSP00000380449:L266F	ENSP00000317674:L282F	L	+	1	0	APOL1	34991624	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.478000	0.00457	-2.518000	0.00499	-1.135000	0.01939	CTT		0.507	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		15	49	0	0	0	0	15	49				
CSF2RB	1439	broad.mit.edu	37	22	37326786	37326786	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37326786C>T	ENST00000403662.3	+	8	1148	c.926C>T	c.(925-927)cCc>cTc	p.P309L	CSF2RB_ENST00000262825.5_Missense_Mutation_p.P315L|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P256L|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P315L			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	309					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGCCAGATTCCCGTGCCCGAC	0.612																																						uc003aqa.3		NA																	0				skin(2)|pancreas(1)	3						c.(925-927)CCC>CTC		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						63.0	54.0	57.0					22																	37326786		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37326786C>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.926C>T	22.37:g.37326786C>T	ENSP00000384053:p.Pro309Leu					CSF2RB_uc003aqc.3_Missense_Mutation_p.P315L	p.P309L	NM_000395	NP_000386	P32927	IL3RB_HUMAN			8	1143	+			309			Extracellular (Potential).		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.926C>T	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618722	0.28801	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.36	-1.62	0.08372	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.149250	0.06618	N	0.756796	T	0.73079	0.3541	L	0.55103	1.725	0.09310	N	0.999999	B;B	0.17268	0.009;0.021	B;B	0.15870	0.014;0.01	T	0.53514	-0.8428	10	0.26408	T	0.33	-5.9164	0.5509	0.00662	0.2818:0.24:0.2754:0.2028	.	315;309	P32927-2;P32927	.;IL3RB_HUMAN	L	309;309;315;315;256	ENSP00000384053:P309L;ENSP00000262825:P315L;ENSP00000385271:P315L;ENSP00000440003:P256L	ENSP00000262825:P315L	P	+	2	0	CSF2RB	35656732	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.687000	0.05156	0.220000	0.20860	0.462000	0.41574	CCC		0.612	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		13	28	0	0	0	0	13	28				
TMPRSS6	164656	broad.mit.edu	37	22	37494578	37494578	+	Missense_Mutation	SNP	C	C	T	rs374472034		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37494578C>T	ENST00000346753.3	-	3	357	c.241G>A	c.(241-243)Gag>Aag	p.E81K	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E72K|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.E72K|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E72K|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E81K	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	81					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACCATCACCTCCGCCTTGTAC	0.587																																						uc003aqs.1		NA																	0				breast(4)|ovary(1)|skin(1)	6						c.(241-243)GAG>AAG		transmembrane protease, serine 6		C	LYS/GLU	0,4406		0,0,2203	215.0	196.0	203.0		241	5.0	0.5	22		203	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMPRSS6	NM_153609.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	81/812	37494578	1,13005	2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37494578C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.241G>A	22.37:g.37494578C>T	ENSP00000334962:p.Glu81Lys					TMPRSS6_uc003aqt.1_Missense_Mutation_p.E72K|TMPRSS6_uc003aqu.2_Missense_Mutation_p.E72K	p.E81K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			3	355	-			81			Extracellular (Potential).		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.241G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779863	0.49891	0.0	1.16E-4	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.92099	-2.97;-2.97;-2.96;-2.97;-1.03;-2.48	4.97	4.97	0.65823	.	0.059211	0.64402	D	0.000004	D	0.94840	0.8333	M	0.61703	1.905	0.45515	D	0.998476	D;D;D	0.76494	0.999;0.995;0.991	D;D;P	0.68765	0.96;0.922;0.837	D	0.94659	0.7846	10	0.48119	T	0.1	.	15.9906	0.80202	0.0:1.0:0.0:0.0	.	81;72;81	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	K	72;81;72;72;81;72	ENSP00000371211:E72K;ENSP00000334962:E81K;ENSP00000385453:E72K;ENSP00000384964:E72K;ENSP00000397691:E81K;ENSP00000400317:E72K	ENSP00000334962:E81K	E	-	1	0	TMPRSS6	35824524	0.346000	0.24844	0.465000	0.27155	0.351000	0.29236	0.622000	0.24433	2.293000	0.77203	0.561000	0.74099	GAG		0.587	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		30	124	0	0	0	0	30	124				
IL2RB	3560	broad.mit.edu	37	22	37524552	37524553	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37524552_37524553CC>TT	ENST00000216223.5	-	10	1437_1438	c.1239_1240GG>AA	c.(1237-1242)ggGGag>ggAAag	p.E414K		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	414					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCGTCGTCCTCCCCTGACAGAG	0.653																																						uc003aqv.1		NA																	0					0						c.(1237-1242)GGGGAG>GGAAAG		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)																																			SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524552_37524553CC>TT	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1239_1240delinsTT	22.37:g.37524552_37524553delinsTT	ENSP00000216223:p.Glu414Lys						p.E414K	NM_000878	NP_000869	P14784	IL2RB_HUMAN			10	1370_1371	-			414			Cytoplasmic (Potential).		B2R765	Missense_Mutation	DNP	ENST00000216223.5	37	c.1239_1240GG>AA	CCDS13942.1																																																																																				0.653	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			20	24	0	0	0	0	20	24				
ELFN2	114794	broad.mit.edu	37	22	37770430	37770430	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37770430G>A	ENST00000402918.2	-	3	1930	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	382					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCGGGGACGGGGTCCCGCGT	0.637																																						uc003asq.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1144-1146)CCC>CTC		leucine rich repeat containing 62							82.0	80.0	80.0					22																	37770430		2203	4300	6503	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37770430G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1145C>T	22.37:g.37770430G>A	ENSP00000385277:p.Pro382Leu						p.P382L	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	1931	-	Melanoma(58;0.0574)		382			Extracellular (Potential).		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1145C>T	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	4.011	-0.000615	0.07819	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.51071	0.72;0.72	4.67	3.65	0.41850	.	0.516771	0.19390	N	0.115424	T	0.30039	0.0752	L	0.38175	1.15	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.14671	-1.0464	10	0.18276	T	0.48	-22.6917	3.1729	0.06559	0.0982:0.1395:0.5406:0.2217	.	382	Q5R3F8	PPR29_HUMAN	L	382	ENSP00000300147:P382L;ENSP00000385277:P382L	ENSP00000300147:P382L	P	-	2	0	ELFN2	36100376	0.942000	0.31987	0.715000	0.30552	0.668000	0.39293	1.364000	0.34171	0.915000	0.36847	0.609000	0.83330	CCC		0.637	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		11	35	0	0	0	0	11	35				
CARD10	29775	broad.mit.edu	37	22	37892485	37892485	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37892485G>A	ENST00000403299.1	-	14	2246	c.2030C>T	c.(2029-2031)tCc>tTc	p.S677F	CARD10_ENST00000406271.3_Missense_Mutation_p.S391F|CARD10_ENST00000251973.5_Missense_Mutation_p.S677F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	677					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGGGAGTGTGGACCCCTGATT	0.637																																						uc003asx.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6						c.(2029-2031)TCC>TTC		caspase recruitment domain protein 10							76.0	65.0	69.0					22																	37892485		2203	4300	6503	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37892485G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2030C>T	22.37:g.37892485G>A	ENSP00000384570:p.Ser677Phe					CARD10_uc003ast.1_RNA|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_5'UTR|CARD10_uc003asw.1_Missense_Mutation_p.S391F|CARD10_uc003asy.1_Missense_Mutation_p.S677F	p.S677F	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			13	2033	-	Melanoma(58;0.0574)		677					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2030C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634938	0.47049	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.49432	0.78;2.46;0.78;1.24	4.72	4.72	0.59763	.	0.331114	0.25011	N	0.033835	T	0.54447	0.1859	L	0.44542	1.39	0.24160	N	0.995666	P;P	0.52061	0.938;0.95	P;P	0.56216	0.548;0.794	T	0.50415	-0.8831	10	0.72032	D	0.01	-11.2168	13.5467	0.61709	0.0:0.0:1.0:0.0	.	677;391	Q9BWT7;Q8NC81	CAR10_HUMAN;.	F	677;391;677;318;149	ENSP00000384570:S677F;ENSP00000385799:S391F;ENSP00000251973:S677F;ENSP00000416239:S318F	ENSP00000251973:S677F	S	-	2	0	CARD10	36222431	0.951000	0.32395	0.303000	0.25071	0.230000	0.25150	1.800000	0.38833	2.334000	0.79466	0.561000	0.74099	TCC		0.637	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		11	38	0	0	0	0	11	38				
TRIOBP	11078	broad.mit.edu	37	22	38121032	38121033	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121032_38121033CC>TT	ENST00000406386.3	+	7	2724_2725	c.2469_2470CC>TT	c.(2467-2472)atCCcc>atTTcc	p.P824S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	824					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACAGAACATCCCCAGATCATC	0.52																																						uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(2467-2472)ATCCCC>ATTTCC		TRIO and F-actin binding protein isoform 6																																				SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121032_38121033CC>TT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	Exception_encountered	22.37:g.38121032_38121033delinsTT	ENSP00000384312:p.Pro824Ser					TRIOBP_uc003atu.2_Missense_Mutation_p.P652S|TRIOBP_uc003atq.1_Missense_Mutation_p.P824S|TRIOBP_uc003ats.1_Missense_Mutation_p.P652S	p.P824S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	2740_2741	+	Melanoma(58;0.0574)		824					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	DNP	ENST00000406386.3	37	c.2469_2470CC>TT	CCDS43015.1																																																																																				0.520	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			18	70	0	0	0	0	18	70				
TRIOBP	11078	broad.mit.edu	37	22	38121451	38121451	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121451C>T	ENST00000406386.3	+	7	3143	c.2888C>T	c.(2887-2889)tCc>tTc	p.S963F		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	963					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACCCCAGTCCTCCTTTGGC	0.637																																						uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(2887-2889)TCC>TTC		TRIO and F-actin binding protein isoform 6							116.0	138.0	131.0					22																	38121451		2083	4215	6298	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121451C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2888C>T	22.37:g.38121451C>T	ENSP00000384312:p.Ser963Phe					TRIOBP_uc003atu.2_Missense_Mutation_p.S791F|TRIOBP_uc003atq.1_Missense_Mutation_p.S963F|TRIOBP_uc003ats.1_Missense_Mutation_p.S791F	p.S963F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	3159	+	Melanoma(58;0.0574)		963					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2888C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461885	0.43736	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20881	2.04	4.1	0.102	0.14522	.	.	.	.	.	T	0.15349	0.0370	L	0.46157	1.445	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.28808	-1.0032	9	0.28530	T	0.3	.	4.8179	0.13376	0.0:0.5729:0.1837:0.2434	.	963	Q9H2D6	TARA_HUMAN	F	963	ENSP00000384312:S963F	ENSP00000384312:S963F	S	+	2	0	TRIOBP	36451397	0.001000	0.12720	0.037000	0.18230	0.907000	0.53573	0.797000	0.26999	0.233000	0.21120	0.558000	0.71614	TCC		0.637	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			53	86	0	0	0	0	53	86				
TRIOBP	11078	broad.mit.edu	37	22	38121538	38121538	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121538C>T	ENST00000406386.3	+	7	3230	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	992					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCCGAACTTCCTCACCTGTG	0.647																																						uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(2974-2976)TCC>TTC		TRIO and F-actin binding protein isoform 6							114.0	132.0	126.0					22																	38121538		2062	4191	6253	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121538C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2975C>T	22.37:g.38121538C>T	ENSP00000384312:p.Ser992Phe					TRIOBP_uc003atu.2_Missense_Mutation_p.S820F|TRIOBP_uc003atq.1_Missense_Mutation_p.S992F|TRIOBP_uc003ats.1_Missense_Mutation_p.S820F	p.S992F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	3246	+	Melanoma(58;0.0574)		992					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2975C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386426	0.25031	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.26518	1.73	4.81	2.61	0.31194	.	.	.	.	.	T	0.18299	0.0439	L	0.34521	1.04	0.09310	N	1	P	0.40476	0.718	B	0.37304	0.246	T	0.11916	-1.0568	9	0.87932	D	0	.	7.0399	0.25015	0.0:0.7652:0.0:0.2348	.	992	Q9H2D6	TARA_HUMAN	F	992	ENSP00000384312:S992F	ENSP00000384312:S992F	S	+	2	0	TRIOBP	36451484	0.001000	0.12720	0.001000	0.08648	0.027000	0.11550	1.267000	0.33050	0.951000	0.37770	0.558000	0.71614	TCC		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			23	119	0	0	0	0	23	119				
TRIOBP	11078	broad.mit.edu	37	22	38130789	38130789	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38130789G>A	ENST00000406386.3	+	9	4701	c.4446G>A	c.(4444-4446)agG>agA	p.R1482R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1482					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCACTTCCAGGGAGTACAAGG	0.682																																						uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(4444-4446)AGG>AGA		TRIO and F-actin binding protein isoform 6							12.0	14.0	13.0					22																	38130789		1825	4002	5827	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38130789G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4446G>A	22.37:g.38130789G>A						TRIOBP_uc003atu.2_Silent_p.R1310R	p.R1482R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			9	4717	+	Melanoma(58;0.0574)		1482					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.4446G>A	CCDS43015.1																																																																																				0.682	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	18	0	0	0	0	4	18				
MICALL1	85377	broad.mit.edu	37	22	38318042	38318042	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38318042C>A	ENST00000215957.6	+	6	759	c.633C>A	c.(631-633)acC>acA	p.T211T		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	211	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGGAGGGCACCTTTGTGTGTG	0.657																																						uc003aui.2		NA																	0				breast(1)	1						c.(631-633)ACC>ACA		molecule interacting with Rab13							42.0	44.0	43.0					22																	38318042		2203	4299	6502	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38318042C>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.633C>A	22.37:g.38318042C>A							p.T211T	NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN			6	717	+	Melanoma(58;0.045)		211			LIM zinc-binding.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.633C>A	CCDS13961.1																																																																																				0.657	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		32	40	1	0	4.32e-19	4.48e-19	32	40				
CBX7	23492	broad.mit.edu	37	22	39529949	39529949	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:39529949G>A	ENST00000216133.5	-	6	908	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Missense_Mutation_p.R142C	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	235	Required for cellular lifespan extension.				chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					TGGGCCTCGCGGAAGGTGACG	0.597																																					GBM(46;845 904 3560 9866 23971)	uc003axb.2		NA																	0				ovary(1)	1						c.(703-705)CGC>TGC		chromobox homolog 7							92.0	90.0	90.0					22																	39529949		2203	4300	6503	SO:0001583	missense	23492				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex		g.chr22:39529949G>A		CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.703C>T	22.37:g.39529949G>A	ENSP00000216133:p.Arg235Cys					CBX7_uc003axc.2_Missense_Mutation_p.R142C	p.R235C	NM_175709	NP_783640	O95931	CBX7_HUMAN			6	792	-	Melanoma(58;0.04)		235			Required for cellular lifespan extension.		Q86T17	Missense_Mutation	SNP	ENST00000216133.5	37	c.703C>T	CCDS13986.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267035	0.80469	.	.	ENSG00000100307	ENST00000216133;ENST00000401405	T;T	0.50813	0.73;0.73	5.58	5.58	0.84498	.	0.134530	0.52532	D	0.000070	T	0.62865	0.2463	L	0.52011	1.625	0.50813	D	0.999896	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.64419	-0.6412	10	0.87932	D	0	.	14.3064	0.66386	0.0:0.0:0.8154:0.1846	.	142;235	B0QYP2;O95931	.;CBX7_HUMAN	C	235;142	ENSP00000216133:R235C;ENSP00000384035:R142C	ENSP00000216133:R235C	R	-	1	0	CBX7	37859895	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	3.873000	0.56093	2.641000	0.89580	0.561000	0.74099	CGC		0.597	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318020.1	NM_175709		27	73	0	0	0	0	27	73				
CACNA1I	8911	broad.mit.edu	37	22	40057260	40057260	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:40057260C>T	ENST00000402142.3	+	16	2846	c.2846C>T	c.(2845-2847)tCc>tTc	p.S949F	CACNA1I_ENST00000400164.3_Missense_Mutation_p.S914F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S949F|CACNA1I_ENST00000336649.4_Missense_Mutation_p.S955F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S914F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S914F	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	949					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCCTGGGCTCCCGAAAGAGC	0.667																																						uc003ayc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2845-2847)TCC>TTC		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						32.0	36.0	35.0					22																	40057260		1961	4135	6096	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40057260C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2846C>T	22.37:g.40057260C>T	ENSP00000385019:p.Ser949Phe					CACNA1I_uc003ayd.2_Missense_Mutation_p.S914F|CACNA1I_uc003aye.2_Missense_Mutation_p.S864F|CACNA1I_uc003ayf.2_Missense_Mutation_p.S829F	p.S949F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			16	2846	+	Melanoma(58;0.0749)		949			Cytoplasmic (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.2846C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915013	0.92178	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97941	-4.59;-4.52;-4.56;-4.51;-4.62;-4.48	5.71	5.71	0.89125	.	0.853808	0.10750	N	0.638425	D	0.98444	0.9482	M	0.72353	2.195	0.47547	D	0.999458	P;D;D;D	0.63880	0.911;0.993;0.993;0.989	P;D;P;P	0.63703	0.563;0.917;0.858;0.726	D	0.97232	0.9885	10	0.87932	D	0	.	15.3376	0.74269	0.0:0.8608:0.1392:0.0	.	914;949;914;949	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	F	949;914;949;914;955;914	ENSP00000385019:S949F;ENSP00000384093:S914F;ENSP00000383887:S949F;ENSP00000385680:S914F;ENSP00000337829:S955F;ENSP00000383028:S914F	ENSP00000337829:S955F	S	+	2	0	CACNA1I	38387206	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.471000	0.66762	2.692000	0.91855	0.655000	0.94253	TCC		0.667	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		18	18	0	0	0	0	18	18				
ADSL	158	broad.mit.edu	37	22	40754970	40754970	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:40754970C>T	ENST00000216194.7	+	5	641	c.585C>T	c.(583-585)ttC>ttT	p.F195F	ADSL_ENST00000342312.6_Silent_p.F195F|ADSL_ENST00000454266.2_Silent_p.F209F	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	195					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ACCTGCGCTTCCGGGGAGTAA	0.517																																					Colon(4;65 130 1097 1516)	uc003ayp.3		NA																	0				ovary(1)	1						c.(583-585)TTC>TTT		adenylosuccinate lyase isoform a							103.0	93.0	96.0					22																	40754970		2203	4300	6503	SO:0001819	synonymous_variant	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40754970C>T	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.585C>T	22.37:g.40754970C>T						ADSL_uc003ays.3_Silent_p.F195F|ADSL_uc003ayq.3_Silent_p.F195F|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Silent_p.F180F|ADSL_uc010gyb.1_RNA	p.F195F	NM_000026	NP_000017	P30566	PUR8_HUMAN			5	644	+			195					B0QY76|O75495|Q5TI34	Silent	SNP	ENST00000216194.7	37	c.585C>T	CCDS14001.1																																																																																				0.517	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		20	58	0	0	0	0	20	58				
MKL1	57591	broad.mit.edu	37	22	40804825	40804825	+	IGR	SNP	C	C	T	rs190612662	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:40804825C>T	ENST00000355630.3	-	0	4496				SGSM3_ENST00000454798.2_Silent_p.T560T|SGSM3_ENST00000248929.9_Silent_p.T627T	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						AAGTCCTGACCCCGGAGGAGC	0.657			T	RBM15	acute megakaryocytic leukemia																																	uc003ayu.1		NA		Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				ovary(2)	2						c.(1879-1881)ACC>ACT		small G protein signaling modulator 3							41.0	48.0	45.0					22																	40804825		2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40804825C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40804825C>T						SGSM3_uc011aos.1_Silent_p.T560T|SGSM3_uc011aot.1_Silent_p.T538T|SGSM3_uc010gyd.1_Silent_p.T698T	p.T627T	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN			18	2090	+			627			RUN.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.1881C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	7.998	0.754716	0.15778	.	.	ENSG00000100359	ENST00000417424	.	.	.	4.33	3.31	0.37934	.	.	.	.	.	T	0.45955	0.1368	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41822	-0.9487	4	.	.	.	.	3.4018	0.07327	0.0:0.5427:0.2597:0.1976	.	.	.	.	S	10	.	.	P	+	1	0	SGSM3	39134771	0.803000	0.28956	1.000000	0.80357	0.828000	0.46876	-0.205000	0.09411	2.346000	0.79739	0.313000	0.20887	CCC		0.657	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		10	56	0	0	0	0	10	56				
EP300	2033	broad.mit.edu	37	22	41547937	41547937	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:41547937C>T	ENST00000263253.7	+	15	4137	c.2918C>T	c.(2917-2919)tCc>tTc	p.S973F		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	973					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AAGCAGCCTTCCCAGGAAGTG	0.483			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(2917-2919)TCC>TTC		E1A binding protein p300							125.0	127.0	126.0					22																	41547937		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41547937C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2918C>T	22.37:g.41547937C>T	ENSP00000263253:p.Ser973Phe						p.S973F	NM_001429	NP_001420	Q09472	EP300_HUMAN			15	3313	+			973					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.2918C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050402	0.55218	.	.	ENSG00000100393	ENST00000263253	D	0.84146	-1.81	5.52	5.52	0.82312	.	0.182465	0.26601	N	0.023474	T	0.77280	0.4107	L	0.36672	1.1	0.31980	N	0.606059	B	0.26318	0.146	B	0.25405	0.06	T	0.75288	-0.3370	10	0.27082	T	0.32	-5.652	10.5526	0.45099	0.0:0.8818:0.0:0.1182	.	973	Q09472	EP300_HUMAN	F	973	ENSP00000263253:S973F	ENSP00000263253:S973F	S	+	2	0	EP300	39877883	0.004000	0.15560	1.000000	0.80357	0.915000	0.54546	1.434000	0.34958	2.587000	0.87381	0.557000	0.71058	TCC		0.483	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		27	121	0	0	0	0	27	121				
TOB2	10766	broad.mit.edu	37	22	41833301	41833301	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:41833301A>T	ENST00000327492.3	-	2	755	c.49T>A	c.(49-51)Tac>Aac	p.Y17N		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	17					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						AGCTTGTTGTACAAGTAGGAG	0.537																																						uc003azz.1		NA																	0				ovary(1)	1						c.(49-51)TAC>AAC		transducer of ERBB2, 2							42.0	47.0	45.0					22																	41833301		2203	4300	6503	SO:0001583	missense	10766				female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		g.chr22:41833301A>T	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.49T>A	22.37:g.41833301A>T	ENSP00000331305:p.Tyr17Asn						p.Y17N	NM_016272	NP_057356	Q14106	TOB2_HUMAN			2	756	-			17					Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	c.49T>A	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993954	0.74703	.	.	ENSG00000183864	ENST00000327492;ENST00000434408	T	0.50277	0.75	5.78	5.78	0.91487	Anti-proliferative protein (2);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.72894	2.215	0.80722	D	1	P	0.52061	0.95	P	0.60609	0.877	T	0.69386	-0.5159	10	0.72032	D	0.01	.	16.1021	0.81178	1.0:0.0:0.0:0.0	.	17	Q14106	TOB2_HUMAN	N	17	ENSP00000331305:Y17N	ENSP00000331305:Y17N	Y	-	1	0	TOB2	40163247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.904000	0.92590	2.210000	0.71456	0.533000	0.62120	TAC		0.537	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		16	78	0	0	0	0	16	78				
XRCC6	2547	broad.mit.edu	37	22	42046861	42046861	+	Silent	SNP	C	C	T	rs201816814		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:42046861C>T	ENST00000359308.4	+	7	1750	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S	XRCC6_ENST00000402580.3_Silent_p.S324S|Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000428575.2_Silent_p.S232S|XRCC6_ENST00000360079.3_Silent_p.S365S|XRCC6_ENST00000405878.1_Silent_p.S365S|XRCC6_ENST00000405506.1_Silent_p.S315S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	365	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TGAGGCCCTCCCTGTTCGTGT	0.498								Non-homologous end-joining					C|||	1	0.000199681	0.0	0.0	5008	,	,		22021	0.001		0.0	False		,,,				2504	0.0					uc003bao.1		NA																	0				skin(2)|ovary(1)|lung(1)|kidney(1)	5						c.(1093-1095)TCC>TCT	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II, 70 kDa subunit							108.0	82.0	91.0					22																	42046861		2203	4300	6503	SO:0001819	synonymous_variant	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42046861C>T	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1095C>T	22.37:g.42046861C>T						XRCC6_uc003bap.1_Silent_p.S324S|XRCC6_uc011apc.1_Silent_p.S315S|XRCC6_uc003baq.1_Silent_p.S365S|XRCC6_uc003bar.1_Silent_p.S365S|XRCC6_uc003bas.1_Silent_p.S315S	p.S365S	NM_001469	NP_001460	P12956	XRCC6_HUMAN			8	1165	+			365			Ku.		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	ENST00000359308.4	37	c.1095C>T	CCDS14021.1																																																																																				0.498	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		6	43	0	0	0	0	6	43				
PACSIN2	11252	broad.mit.edu	37	22	43275168	43275168	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:43275168G>A	ENST00000263246.3	-	8	1115	c.914C>T	c.(913-915)tCc>tTc	p.S305F	PACSIN2_ENST00000407585.1_Missense_Mutation_p.S305F|PACSIN2_ENST00000402229.1_Missense_Mutation_p.S305F|PACSIN2_ENST00000337959.4_Missense_Mutation_p.S305F|PACSIN2_ENST00000403744.3_Missense_Mutation_p.S305F	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	305	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CAGGTCTGCGGACCACTCCTA	0.597																																						uc010gzg.2		NA																	0					0						c.(913-915)TCC>TTC		protein kinase C and casein kinase substrate in							69.0	73.0	72.0					22																	43275168		2084	4211	6295	SO:0001583	missense	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43275168G>A	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.914C>T	22.37:g.43275168G>A	ENSP00000263246:p.Ser305Phe					PACSIN2_uc003bdg.3_Missense_Mutation_p.S305F|PACSIN2_uc003bde.3_Missense_Mutation_p.S305F|PACSIN2_uc003bdf.3_Missense_Mutation_p.S305F	p.S305F	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN			8	1136	-		Glioma(61;0.222)	305					O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	ENST00000263246.3	37	c.914C>T	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655613	0.67586	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.61703	1.905	0.80722	D	1	P;P	0.46859	0.804;0.885	P;P	0.48227	0.571;0.571	T	0.24012	-1.0172	9	.	.	.	4.6069	18.8978	0.92430	0.0:0.0:1.0:0.0	.	305;305	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	F	305	ENSP00000263246:S305F;ENSP00000338379:S305F;ENSP00000385952:S305F;ENSP00000385372:S305F;ENSP00000385040:S305F	.	S	-	2	0	PACSIN2	41605112	1.000000	0.71417	0.982000	0.44146	0.948000	0.59901	6.570000	0.73996	2.528000	0.85240	0.558000	0.71614	TCC		0.597	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		13	34	0	0	0	0	13	34				
SAMM50	25813	broad.mit.edu	37	22	44368775	44368775	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:44368775C>T	ENST00000350028.4	+	6	611	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_Intron	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	152					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GCTTCCTAATCTTCTTGGTCG	0.428																																						uc003bej.2		NA																	0				skin(1)	1						c.(454-456)CTT>TTT		sorting and assembly machinery component 50							126.0	134.0	132.0					22																	44368775		2203	4300	6503	SO:0001583	missense	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44368775C>T	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.454C>T	22.37:g.44368775C>T	ENSP00000345445:p.Leu152Phe					SAMM50_uc011aqd.1_Intron|SAMM50_uc003bek.2_5'Flank	p.L152F	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN			6	651	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	152					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	c.454C>T	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.477037	0.63849	.	.	ENSG00000100347	ENST00000350028	T	0.52295	0.67	4.92	3.83	0.44106	Bacterial surface antigen (D15) (1);	0.282755	0.34291	N	0.004095	T	0.42698	0.1214	L	0.50333	1.59	0.80722	D	1	B	0.27559	0.181	B	0.31751	0.135	T	0.26815	-1.0092	10	0.19147	T	0.46	-24.3109	14.2423	0.65966	0.1487:0.8512:0.0:0.0	.	152	Q9Y512	SAM50_HUMAN	F	152	ENSP00000345445:L152F	ENSP00000345445:L152F	L	+	1	0	SAMM50	42700108	0.049000	0.20398	0.424000	0.26647	0.958000	0.62258	0.409000	0.21082	2.445000	0.82738	0.655000	0.94253	CTT		0.428	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		38	118	0	0	0	0	38	118				
PARVG	64098	broad.mit.edu	37	22	44585099	44585099	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:44585099A>C	ENST00000444313.3	+	6	837	c.353A>C	c.(352-354)cAg>cCg	p.Q118P	PARVG_ENST00000415224.1_Missense_Mutation_p.Q118P|PARVG_ENST00000422871.1_Missense_Mutation_p.Q118P	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	118	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CGGAGTCTGCAGCTGGAGGAG	0.647																																						uc011aqe.1		NA																	0					0						c.(352-354)CAG>CCG		parvin, gamma							105.0	94.0	98.0					22																	44585099		2203	4300	6503	SO:0001583	missense	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44585099A>C	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.353A>C	22.37:g.44585099A>C	ENSP00000391583:p.Gln118Pro					PARVG_uc003bep.2_Missense_Mutation_p.Q118P|PARVG_uc011aqf.1_Missense_Mutation_p.Q118P|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	p.Q118P	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN			6	777	+		Ovarian(80;0.024)|all_neural(38;0.0299)	118			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	c.353A>C	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.011557	0.35511	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	D;D;D	0.94966	-3.57;-3.57;-3.57	4.86	-0.142	0.13448	Calponin homology domain (4);	0.267468	0.32518	N	0.005991	D	0.94644	0.8273	M	0.75447	2.3	0.28456	N	0.916119	D	0.55800	0.973	P	0.57846	0.828	D	0.88963	0.3395	10	0.36615	T	0.2	-18.4816	6.975	0.24670	0.4735:0.4415:0.085:0.0	.	118	Q9HBI0	PARVG_HUMAN	P	118	ENSP00000391453:Q118P;ENSP00000391583:Q118P;ENSP00000416761:Q118P	ENSP00000349378:Q118P	Q	+	2	0	PARVG	42916432	0.030000	0.19436	0.035000	0.18076	0.549000	0.35272	0.056000	0.14256	-0.066000	0.12998	0.454000	0.30748	CAG		0.647	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		12	26	0	0	0	0	12	26				
PHF21B	112885	broad.mit.edu	37	22	45316339	45316340	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:45316339_45316340GT>AA	ENST00000313237.5	-	3	301_302	c.151_152AC>TT	c.(151-153)ACg>TTg	p.T51L	PHF21B_ENST00000447824.3_Missense_Mutation_p.T39L|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.T39L|PHF21B_ENST00000396103.3_Missense_Mutation_p.T51L	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	51							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTGAGGACCCGTGACAGGCACT	0.634																																						uc003bfn.2		NA																	0				ovary(2)|skin(1)	3						c.(151-153)ACG>TTG		PHD finger protein 21B isoform 1																																				SO:0001583	missense	112885						zinc ion binding	g.chr22:45316339_45316340GT>AA	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.151_152delinsAA	22.37:g.45316339_45316340delinsAA	ENSP00000324403:p.Thr51Leu					PHF21B_uc003bfm.2_5'UTR|PHF21B_uc011aqk.1_Missense_Mutation_p.T39L|PHF21B_uc011aql.1_Missense_Mutation_p.T51L|PHF21B_uc011aqm.1_Missense_Mutation_p.T39L	p.T51L	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	3	302_303	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	51					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	DNP	ENST00000313237.5	37	c.151_152AC>TT	CCDS14061.1																																																																																				0.634	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		4	11	0	0	0	0	4	11				
SMC1B	27127	broad.mit.edu	37	22	45765889	45765889	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:45765889T>C	ENST00000357450.4	-	15	2364	c.2365A>G	c.(2365-2367)Att>Gtt	p.I789V	SMC1B_ENST00000404354.3_Missense_Mutation_p.I789V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	789					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATTCACGAATATTTTCCACG	0.264																																						uc003bgc.2		NA																	0				ovary(2)	2						c.(2365-2367)ATT>GTT		SMC1 structural maintenance of chromosomes							54.0	55.0	55.0					22																	45765889		1794	4060	5854	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45765889T>C	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2365A>G	22.37:g.45765889T>C	ENSP00000350036:p.Ile789Val					SMC1B_uc003bgd.2_Missense_Mutation_p.I789V|SMC1B_uc003bge.1_Missense_Mutation_p.I572V	p.I789V	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	15	2417	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	789			Potential.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2365A>G	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044825	0.75732	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.80566	-1.39;-1.35	5.79	5.79	0.91817	RecF/RecN/SMC (1);	0.000000	0.56097	D	0.000026	D	0.91402	0.7287	M	0.91038	3.17	0.54753	D	0.999987	D;D;D	0.89917	0.971;1.0;1.0	D;D;D	0.91635	0.968;0.991;0.999	D	0.92532	0.6034	10	0.52906	T	0.07	.	14.3553	0.66733	0.0:0.0:0.0:1.0	.	789;789;789	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	V	789	ENSP00000350036:I789V;ENSP00000385902:I789V	ENSP00000350036:I789V	I	-	1	0	SMC1B	44144553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.420000	0.66441	2.205000	0.71048	0.477000	0.44152	ATT		0.264	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		19	22	0	0	0	0	19	22				
PKDREJ	10343	broad.mit.edu	37	22	46654239	46654239	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:46654239C>T	ENST00000253255.5	-	1	4980	c.4981G>A	c.(4981-4983)Gat>Aat	p.D1661N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1661					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGCATTCCATCCAACCTGATC	0.413																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(4981-4983)GAT>AAT		receptor for egg jelly-like protein precursor							139.0	121.0	127.0					22																	46654239		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654239C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4981G>A	22.37:g.46654239C>T	ENSP00000253255:p.Asp1661Asn						p.D1661N	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4981	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1661			Cytoplasmic (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4981G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	c	13.06	2.125340	0.37533	.	.	ENSG00000130943	ENST00000253255	T	0.37915	1.17	4.95	-8.47	0.00939	.	3.160690	0.00901	N	0.002354	T	0.18383	0.0441	N	0.19112	0.55	0.09310	N	1	B	0.22604	0.072	B	0.18871	0.023	T	0.09552	-1.0669	10	0.17832	T	0.49	5.9111	6.2233	0.20693	0.1371:0.5479:0.1432:0.1719	.	1661	Q9NTG1	PKDRE_HUMAN	N	1661	ENSP00000253255:D1661N	ENSP00000253255:D1661N	D	-	1	0	PKDREJ	45032903	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.070000	0.03440	-1.079000	0.03113	0.298000	0.19748	GAT		0.413	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		17	48	0	0	0	0	17	48				
CRELD2	79174	broad.mit.edu	37	22	50315256	50315256	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:50315256C>T	ENST00000328268.4	+	5	513	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	CRELD2_ENST00000404488.3_Missense_Mutation_p.P147S|CRELD2_ENST00000403427.3_Missense_Mutation_p.P147S|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000407217.3_Missense_Mutation_p.P147S	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	147	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		ATCCCAGAGGCCCTGCAGCGG	0.642																																						uc003bja.2		NA																	0					0						c.(439-441)CCC>TCC		cysteine-rich with EGF-like domains 2 isoform b							46.0	49.0	48.0					22																	50315256		2203	4300	6503	SO:0001583	missense	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50315256C>T	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.439C>T	22.37:g.50315256C>T	ENSP00000332223:p.Pro147Ser					CRELD2_uc003biz.3_Missense_Mutation_p.P147S|CRELD2_uc010haj.2_Missense_Mutation_p.P147S|CRELD2_uc010hal.2_Missense_Mutation_p.P147S|CRELD2_uc010hak.2_Missense_Mutation_p.P147S|CRELD2_uc010ham.2_Missense_Mutation_p.P147S	p.P147S	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	5	574	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	147			EGF-like 1.		A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP	ENST00000328268.4	37	c.439C>T	CCDS14082.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063142	0.76187	.	.	ENSG00000184164	ENST00000450207;ENST00000404488;ENST00000328268;ENST00000407217;ENST00000403427	T;T;T;T;T	0.59224	2.39;0.44;0.38;0.5;0.28	4.12	4.12	0.48240	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.057443	0.64402	D	0.000001	T	0.73505	0.3595	M	0.73319	2.225	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;0.992;1.0;1.0;0.998;0.999	D;P;D;D;D;D	0.83275	0.981;0.894;0.981;0.996;0.928;0.967	T	0.75113	-0.3432	10	0.45353	T	0.12	.	14.7088	0.69211	0.0:1.0:0.0:0.0	.	147;147;147;147;147;147	Q6UXH1-2;Q6UXH1-5;Q6UXH1-4;A5GZA6;Q6UXH1;Q6UXH1-3	.;.;.;.;CREL2_HUMAN;.	S	147	ENSP00000387769:P147S;ENSP00000383938:P147S;ENSP00000332223:P147S;ENSP00000386034:P147S;ENSP00000384111:P147S	ENSP00000332223:P147S	P	+	1	0	CRELD2	48701260	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.050000	0.64251	2.135000	0.66039	0.655000	0.94253	CCC		0.642	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		8	26	0	0	0	0	8	26				
RABL2B	11158	broad.mit.edu	37	22	51207916	51207916	+	Silent	SNP	G	G	A	rs370028333		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:51207916G>A	ENST00000395598.3	-	7	682	c.471C>T	c.(469-471)ttC>ttT	p.F157F	RABL2B_ENST00000395593.3_Silent_p.F157F|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000435118.1_Silent_p.F157F|RABL2B_ENST00000354869.3_Silent_p.F158F|RABL2B_ENST00000395595.3_Silent_p.F158F|RABL2B_ENST00000395591.1_Silent_p.F94F	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	157					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCCGAGACGAAATACAGGG	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19788	0.0		0.0	False		,,,				2504	0.0				GBM(148;358 1894 4987 13698 40400)	uc003bno.1		NA																	0					0						c.(469-471)TTC>TTT		RAB, member of RAS oncogene family-like 2B		G	,,,,,,	0,4404		0,0,2202	69.0	79.0	76.0		474,474,474,474,471,471,471	0.6	1.0	22		76	1,8561	1.2+/-3.3	0,1,4280	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RABL2B	NM_001003789.1,NM_001130919.1,NM_001130920.1,NM_001130921.1,NM_001130922.1,NM_001130923.1,NM_007081.2	,,,,,,	0,1,6482	AA,AG,GG		0.0117,0.0,0.0077	,,,,,,	158/230,158/230,158/230,158/230,157/229,157/239,157/229	51207916	1,12965	2202	4281	6483	SO:0001819	synonymous_variant	11158				small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr22:51207916G>A		CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"""RAB, member RAS oncogene"""	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.471C>T	22.37:g.51207916G>A						RPL23AP82_uc011asd.1_Intron|RPL23AP82_uc003bni.2_Intron|RABL2B_uc011ase.1_RNA|RABL2B_uc003bnm.1_Silent_p.F157F|RABL2B_uc011asf.1_Silent_p.F158F|RABL2B_uc003bnn.1_Silent_p.F158F|RABL2B_uc003bnk.1_Silent_p.F158F|RABL2B_uc011asg.1_Silent_p.F158F|RABL2B_uc003bnl.1_Silent_p.F157F|RABL2B_uc011ash.1_RNA	p.F157F	NM_001130922	NP_001124394	Q9UNT1	RBL2B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)	7	687	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	157					Q5TZT8|Q96C33	Silent	SNP	ENST00000395598.3	37	c.471C>T	CCDS14102.1																																																																																				0.493	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316606.1	NM_001003789		29	83	0	0	0	0	29	83				
CHL1	10752	broad.mit.edu	37	3	383653	383653	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:383653C>T	ENST00000256509.2	+	7	1209	c.567C>T	c.(565-567)taC>taT	p.Y189Y	CHL1_ENST00000397491.2_Silent_p.Y189Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAGATCTATACTTCGCAAACG	0.383																																						uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(565-567)TAC>TAT		cell adhesion molecule with homology to L1CAM							92.0	85.0	88.0					3																	383653		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:383653C>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.567C>T	3.37:g.383653C>T						CHL1_uc003bot.2_Silent_p.Y189Y|CHL1_uc003bow.1_Silent_p.Y189Y|CHL1_uc011asi.1_Silent_p.Y189Y	p.Y189Y	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	7	838	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	189			Ig-like C2-type 2.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.567C>T	CCDS2556.1																																																																																				0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		4	17	0	0	0	0	4	17				
CNTN4	152330	broad.mit.edu	37	3	2777999	2777999	+	Silent	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:2777999T>A	ENST00000397461.1	+	4	540	c.156T>A	c.(154-156)gtT>gtA	p.V52V	CNTN4_ENST00000427331.1_Silent_p.V52V|CNTN4_ENST00000418658.1_Silent_p.V52V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	52	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTGTGAAGTTAAAGGAAATC	0.343																																						uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(154-156)GTT>GTA		contactin 4 isoform a precursor							96.0	92.0	93.0					3																	2777999		1823	4081	5904	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2777999T>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.156T>A	3.37:g.2777999T>A						CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.V52V	p.V52V	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	4	377	+		Ovarian(110;0.156)	52			Ig-like C2-type 1.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.156T>A	CCDS43041.1																																																																																				0.343	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			17	52	0	0	0	0	17	52				
SUMF1	285362	broad.mit.edu	37	3	4461817	4461817	+	Missense_Mutation	SNP	G	G	A	rs113185435		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:4461817G>A	ENST00000272902.5	-	4	568	c.533C>T	c.(532-534)cCc>cTc	p.P178L	SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000405420.2_Missense_Mutation_p.P178L|SUMF1_ENST00000534863.1_Missense_Mutation_p.P178L|SUMF1_ENST00000383843.5_Missense_Mutation_p.P153L	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	178					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		TAACCACCAGGGAGCAGCTGC	0.483																																						uc003bpz.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(532-534)CCC>CTC		sulfatase modifying factor 1 isoform 1							83.0	72.0	76.0					3																	4461817		2203	4300	6503	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4461817G>A	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.533C>T	3.37:g.4461817G>A	ENSP00000272902:p.Pro178Leu					SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.P153L|SUMF1_uc010hby.1_Missense_Mutation_p.P178L|SUMF1_uc011ast.1_Intron	p.P178L	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	4	558	-		Melanoma(143;0.068)|Colorectal(144;0.233)	178					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.533C>T	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520514	0.85495	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000405420	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.33	5.33	0.75918	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.95778	0.8626	M	0.69523	2.12	0.80722	D	1	P;D;P	0.54207	0.922;0.965;0.877	P;P;P	0.59643	0.511;0.861;0.49	D	0.95309	0.8410	10	0.48119	T	0.1	-26.0845	18.1833	0.89785	0.0:0.0:1.0:0.0	.	153;178;178	G5E9B0;E9PGL0;Q8NBK3	.;.;SUMF1_HUMAN	L	178;178;178;153;178	ENSP00000440421:P178L;ENSP00000272902:P178L;ENSP00000373355:P153L;ENSP00000384977:P178L	ENSP00000272902:P178L	P	-	2	0	SUMF1	4436817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.413000	0.90235	2.652000	0.90054	0.655000	0.94253	CCC		0.483	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		9	30	0	0	0	0	9	30				
ITPR1	3708	broad.mit.edu	37	3	4808218	4808218	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:4808218C>T	ENST00000443694.2	+	42	5504	c.5504C>T	c.(5503-5505)tCc>tTc	p.S1835F	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S1787F|ITPR1_ENST00000354582.6_Missense_Mutation_p.S1835F|ITPR1_ENST00000302640.8_Missense_Mutation_p.S1835F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S1802F|ITPR1_ENST00000357086.4_Missense_Mutation_p.S1802F			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1850					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTGCAGCACTCCTTTTTCTGT	0.428																																						uc003bqa.2		NA																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(5404-5406)TCC>TTC		inositol 1,4,5-triphosphate receptor, type 1							66.0	66.0	66.0					3																	4808218		1907	4126	6033	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4808218C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5504C>T	3.37:g.4808218C>T	ENSP00000401671:p.Ser1835Phe					ITPR1_uc010hca.1_Missense_Mutation_p.S1787F|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.S772F	p.S1802F	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	42	5753	+			1850			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.5405C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740037	0.89573	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.937;0.998	D	0.97992	1.0355	10	0.87932	D	0	.	19.7686	0.96352	0.0:1.0:0.0:0.0	.	1850;1802	Q14643;G5E9P1	ITPR1_HUMAN;.	F	1850;1835;1835;1802;296;1802;1787;1835	ENSP00000306253:S1835F;ENSP00000346595:S1835F;ENSP00000405934:S1802F;ENSP00000349597:S1802F;ENSP00000397885:S1787F;ENSP00000401671:S1835F	ENSP00000306253:S1835F	S	+	2	0	ITPR1	4783218	1.000000	0.71417	0.988000	0.46212	0.859000	0.49053	7.720000	0.84759	2.665000	0.90641	0.591000	0.81541	TCC		0.428	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		9	45	0	0	0	0	9	45				
ITPR1	3708	broad.mit.edu	37	3	4836803	4836803	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:4836803C>T	ENST00000443694.2	+	50	6818	c.6818C>T	c.(6817-6819)tCg>tTg	p.S2273L	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2225L|ITPR1_ENST00000354582.6_Missense_Mutation_p.S2273L|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2273L|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2240L|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2240L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2288					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGCAGCATTTCGTTTAACCTG	0.527																																						uc003bqa.2		NA																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(6718-6720)TCG>TTG		inositol 1,4,5-triphosphate receptor, type 1							126.0	124.0	125.0					3																	4836803		2056	4202	6258	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4836803C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6818C>T	3.37:g.4836803C>T	ENSP00000401671:p.Ser2273Leu					ITPR1_uc010hca.1_Missense_Mutation_p.S2225L|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.S1210L|ITPR1_uc010hcc.1_Missense_Mutation_p.S8L	p.S2240L	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	50	7067	+			2288			Helical; (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.6719C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409777	0.42715	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.78;-2.78;-2.78;-2.79	5.42	4.55	0.56014	.	0.174700	0.52532	N	0.000074	D	0.85570	0.5727	L	0.35288	1.05	0.80722	D	1	B;P	0.37330	0.006;0.59	B;B	0.39185	0.002;0.293	T	0.82149	-0.0600	10	0.20519	T	0.43	.	13.9817	0.64308	0.0:0.9271:0.0:0.0729	.	2288;2240	Q14643;G5E9P1	ITPR1_HUMAN;.	L	2288;2273;2273;2240;734;2240;2225;2273	ENSP00000306253:S2273L;ENSP00000346595:S2273L;ENSP00000405934:S2240L;ENSP00000349597:S2240L;ENSP00000397885:S2225L;ENSP00000401671:S2273L	ENSP00000306253:S2273L	S	+	2	0	ITPR1	4811803	1.000000	0.71417	0.034000	0.17996	0.706000	0.40770	5.981000	0.70524	1.274000	0.44362	0.561000	0.74099	TCG		0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		4	27	0	0	0	0	4	27				
RPUSD3	285367	broad.mit.edu	37	3	9882388	9882388	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:9882388G>A	ENST00000383820.5	-	5	510	c.509C>T	c.(508-510)aCc>aTc	p.T170I	RPUSD3_ENST00000424438.1_Missense_Mutation_p.T138I|RPUSD3_ENST00000433535.2_Missense_Mutation_p.T155I|RPUSD3_ENST00000485705.1_5'Flank|TTLL3_ENST00000455274.1_Intron	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	170					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					TCACCAGTAGGTGGCTGTGGG	0.597																																						uc011atk.1		NA																	0				central_nervous_system(1)	1						c.(508-510)ACC>ATC		RNA pseudouridylate synthase domain containing 3							76.0	72.0	73.0					3																	9882388		2203	4300	6503	SO:0001583	missense	285367				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr3:9882388G>A	BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"""RNA pseudouridylate synthase domain containing"""	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.509C>T	3.37:g.9882388G>A	ENSP00000373331:p.Thr170Ile					ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Missense_Mutation_p.T155I|RPUSD3_uc011atm.1_Missense_Mutation_p.T162I|RPUSD3_uc003btn.2_3'UTR	p.T170I	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN			5	513	-	Medulloblastoma(99;0.227)		170					B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Missense_Mutation	SNP	ENST00000383820.5	37	c.509C>T	CCDS2586.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.55|14.55	2.569562|2.569562	0.45798|0.45798	.|.	.|.	ENSG00000156990|ENSG00000156990	ENST00000427174|ENST00000433535;ENST00000383820;ENST00000424438;ENST00000418713	.|T;T;T;T	.|0.14766	.|2.48;2.48;2.48;2.48	5.33|5.33	3.55|3.55	0.40652|0.40652	.|Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	.|0.345822	.|0.32593	.|N	.|0.005891	T|T	0.24236|0.24236	0.0587|0.0587	L|L	0.48362|0.48362	1.52|1.52	0.31003|0.31003	N|N	0.720147|0.720147	.|D;D;D	.|0.71674	.|0.997;0.994;0.998	.|D;P;D	.|0.72075	.|0.969;0.896;0.976	T|T	0.07888|0.07888	-1.0749|-1.0749	5|10	.|0.19147	.|T	.|0.46	.|.	9.2805|9.2805	0.37725|0.37725	0.1689:0.0:0.8311:0.0|0.1689:0.0:0.8311:0.0	.|.	.|162;155;170	.|B7Z3P5;Q6P087-2;Q6P087	.|.;.;RUSD3_HUMAN	S|I	161|155;170;138;166	.|ENSP00000398921:T155I;ENSP00000373331:T170I;ENSP00000408693:T138I;ENSP00000415616:T166I	.|ENSP00000373331:T170I	P|T	-|-	1|2	0|0	RPUSD3|RPUSD3	9857388|9857388	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.561000|0.561000	0.35649|0.35649	2.117000|2.117000	0.41939|0.41939	0.644000|0.644000	0.30656|0.30656	-0.119000|-0.119000	0.15052|0.15052	CCT|ACC		0.597	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250238.1	NM_173659		8	35	0	0	0	0	8	35				
CRELD1	78987	broad.mit.edu	37	3	9982847	9982847	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:9982847G>T	ENST00000383811.3	+	6	1289	c.690G>T	c.(688-690)ttG>ttT	p.L230F	CRELD1_ENST00000452070.1_Missense_Mutation_p.L230F|CRELD1_ENST00000326434.5_Missense_Mutation_p.L230F|CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000397170.3_Missense_Mutation_p.L230F	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	230					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAAACTGTTTGCAATGCAAGA	0.592																																						uc003bug.2		NA																	0				ovary(1)	1						c.(688-690)TTG>TTT		cysteine-rich with EGF-like domains 1 isoform 3							111.0	106.0	108.0					3																	9982847		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982847G>T	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.690G>T	3.37:g.9982847G>T	ENSP00000373322:p.Leu230Phe					CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.L230F|CRELD1_uc003buh.2_Missense_Mutation_p.L230F|CRELD1_uc003bui.2_Missense_Mutation_p.L230F|CRELD1_uc003buj.2_RNA	p.L230F	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN			7	808	+			230			FU 1.|Extracellular (Potential).		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.690G>T	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834386	0.71373	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.49	3.57	0.40892	Growth factor, receptor (1);	0.161766	0.41001	D	0.000961	D	0.89347	0.6689	L	0.52573	1.65	0.38733	D	0.953713	D;D	0.89917	0.994;1.0	P;D	0.74674	0.854;0.984	D	0.88285	0.2939	9	.	.	.	-4.4533	8.3842	0.32491	0.2184:0.0:0.7815:0.0	.	230;230	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	F	230	ENSP00000380355:L230F;ENSP00000373322:L230F;ENSP00000393643:L230F;ENSP00000321856:L230F	.	L	+	3	2	CRELD1	9957847	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	0.676000	0.25247	1.185000	0.42971	0.561000	0.74099	TTG		0.592	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		21	58	1	0	1.98e-07	2.03e-07	21	58				
TIMP4	7079	broad.mit.edu	37	3	12198975	12198975	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:12198975C>T	ENST00000287814.4	-	2	657	c.147G>A	c.(145-147)cgG>cgA	p.R49R	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	49	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGATTTTGGCCCGAATCACTG	0.493																																					Melanoma(199;1446 2144 30617 38794 51714)	uc003bwo.2		NA																	0					0						c.(145-147)CGG>CGA		tissue inhibitor of metalloproteinase 4							79.0	72.0	75.0					3																	12198975		2203	4300	6503	SO:0001819	synonymous_variant	7079						metal ion binding|metalloendopeptidase inhibitor activity	g.chr3:12198975C>T	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.147G>A	3.37:g.12198975C>T						SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron	p.R49R	NM_003256	NP_003247	Q99727	TIMP4_HUMAN			2	454	-			49			NTR.		B2R7K6	Silent	SNP	ENST00000287814.4	37	c.147G>A	CCDS2608.1																																																																																				0.493	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		14	36	0	0	0	0	14	36				
NUP210	23225	broad.mit.edu	37	3	13407500	13407500	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:13407500G>A	ENST00000254508.5	-	14	1960	c.1878C>T	c.(1876-1878)caC>caT	p.H626H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	626					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGACGTGGCCGTGTCTGTAGC	0.637																																						uc003bxv.1		NA																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(1876-1878)CAC>CAT		nucleoporin 210 precursor							119.0	108.0	112.0					3																	13407500		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13407500G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1878C>T	3.37:g.13407500G>A						NUP210_uc003bxx.2_Silent_p.H298H	p.H626H	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			14	1961	-	all_neural(104;0.187)		626			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.1878C>T	CCDS33704.1																																																																																				0.637	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		9	34	0	0	0	0	9	34				
TBC1D5	9779	broad.mit.edu	37	3	17226675	17226675	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:17226675G>A	ENST00000253692.7	-	19	3442	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	TBC1D5_ENST00000429383.4_Missense_Mutation_p.S593F|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.S567F|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S615F	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	593						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGAAGGAAGGAAATTTGGGC	0.368																																						uc003cbf.2		NA																	0				ovary(1)	1						c.(1777-1779)TCC>TTC		TBC1 domain family, member 5 isoform b							123.0	107.0	112.0					3																	17226675		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17226675G>A	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1778C>T	3.37:g.17226675G>A	ENSP00000253692:p.Ser593Phe					TBC1D5_uc010heu.2_Missense_Mutation_p.S180F|TBC1D5_uc010hev.2_Missense_Mutation_p.S615F|TBC1D5_uc003cbe.2_Missense_Mutation_p.S593F|TBC1D5_uc010hew.1_Missense_Mutation_p.S567F	p.S593F	NM_014744	NP_055559	Q92609	TBCD5_HUMAN			19	3443	-			593					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1778C>T	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758936	0.89843	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.54279	1.52;1.52;1.52;0.58	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;0.999	D;D;D;D	0.87578	0.938;0.991;0.998;0.998	T	0.65721	-0.6099	10	0.72032	D	0.01	-17.4809	18.9775	0.92743	0.0:0.0:1.0:0.0	.	567;615;593;593	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	F	593;593;615;567	ENSP00000253692:S593F;ENSP00000398127:S593F;ENSP00000402935:S615F;ENSP00000411925:S567F	ENSP00000253692:S593F	S	-	2	0	TBC1D5	17201679	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.827000	0.92041	2.785000	0.95823	0.655000	0.94253	TCC		0.368	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		7	39	0	0	0	0	7	39				
KAT2B	8850	broad.mit.edu	37	3	20113935	20113935	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:20113935T>C	ENST00000263754.4	+	2	869	c.414T>C	c.(412-414)agT>agC	p.S138S	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	138					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CCTGTCGGAGTTGTAGCCATG	0.458																																						uc003cbq.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(412-414)AGT>AGC		K(lysine) acetyltransferase 2B							105.0	113.0	110.0					3																	20113935		2203	4300	6503	SO:0001819	synonymous_variant	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20113935T>C	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.414T>C	3.37:g.20113935T>C							p.S138S	NM_003884	NP_003875	Q92831	KAT2B_HUMAN			2	860	+			138					Q6NSK1	Silent	SNP	ENST00000263754.4	37	c.414T>C	CCDS2634.1																																																																																				0.458	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		21	85	0	0	0	0	21	85				
RARB	5915	broad.mit.edu	37	3	25542804	25542804	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:25542804G>T	ENST00000404969.1	+	3	459	c.459G>T	c.(457-459)atG>atT	p.M153I	RARB_ENST00000330688.4_Missense_Mutation_p.M146I|RARB_ENST00000437042.2_Missense_Mutation_p.M34I|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.M34I			P10826	RARB_HUMAN	retinoic acid receptor, beta	153					embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AAGTGGGAATGTCCAAAGAAT	0.403																																						uc011awl.1		NA																	0				ovary(1)|large_intestine(1)|pancreas(1)	3						c.(457-459)ATG>ATT		retinoic acid receptor, beta isoform 2	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						95.0	94.0	95.0					3																	25542804		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25542804G>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.459G>T	3.37:g.25542804G>T	ENSP00000385865:p.Met153Ile					RARB_uc003cdi.1_Missense_Mutation_p.M34I|RARB_uc003cdh.2_Missense_Mutation_p.M146I	p.M153I	NM_016152	NP_057236	P10826	RARB_HUMAN			3	525	+			153			Nuclear receptor.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.459G>T		.	.	.	.	.	.	.	.	.	.	G	25.1	4.607263	0.87157	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84	4.68	4.68	0.58851	Nuclear hormone receptor, ligand-binding (2);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	H	0.98883	4.36	0.80722	D	1	P;B	0.37731	0.607;0.318	P;B	0.51974	0.686;0.347	D	0.98630	1.0671	10	0.87932	D	0	.	17.5994	0.88022	0.0:0.0:1.0:0.0	.	153;146	P10826;F1D8S6	RARB_HUMAN;.	I	153;153;153;34;146;34	ENSP00000373282:M153I;ENSP00000385865:M153I;ENSP00000398840:M34I;ENSP00000332296:M146I;ENSP00000391391:M34I	ENSP00000332296:M146I	M	+	3	0	RARB	25517808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.138000	0.66242	0.650000	0.86243	ATG		0.403	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		10	20	1	0	7.48e-07	7.63e-07	10	20				
RBMS3	27303	broad.mit.edu	37	3	29938882	29938882	+	Silent	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:29938882A>C	ENST00000383767.2	+	9	1140	c.804A>C	c.(802-804)tcA>tcC	p.S268S	RBMS3_ENST00000273139.9_Silent_p.S268S|RBMS3_ENST00000396583.3_Silent_p.S281S|RBMS3_ENST00000456853.1_Silent_p.S281S|RBMS3_ENST00000383766.2_Silent_p.S267S|RBMS3_ENST00000434693.2_Silent_p.S267S|RBMS3_ENST00000452462.1_Silent_p.S268S			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	268					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TTTATTCTTCACCGTACAGTA	0.433																																						uc003cel.2		NA																	0				central_nervous_system(1)	1						c.(802-804)TCA>TCC		RNA binding motif, single stranded interacting							242.0	224.0	230.0					3																	29938882		2203	4300	6503	SO:0001819	synonymous_variant	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:29938882A>C	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.804A>C	3.37:g.29938882A>C						RBMS3_uc003cek.2_Silent_p.S268S|RBMS3_uc010hfq.2_Silent_p.S281S|RBMS3_uc003cem.2_Silent_p.S267S|RBMS3_uc010hfr.2_Silent_p.S268S	p.S268S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			9	1034	+		Ovarian(412;0.0956)	268					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	ENST00000383767.2	37	c.804A>C	CCDS33724.1																																																																																				0.433	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		31	93	0	0	0	0	31	93				
CCR4	1233	broad.mit.edu	37	3	32995339	32995339	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:32995339C>T	ENST00000330953.5	+	2	593	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	142					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ATTGTGCACGCGGTGTTTTCC	0.488																																						uc003cfg.1		NA																	0				lung(1)	1						c.(424-426)GCG>GTG		chemokine (C-C motif) receptor 4							216.0	202.0	207.0					3																	32995339		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995339C>T	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.425C>T	3.37:g.32995339C>T	ENSP00000332659:p.Ala142Val						p.A142V	NM_005508	NP_005499	P51679	CCR4_HUMAN			2	593	+			142			Cytoplasmic (Potential).		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.425C>T	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798572	0.31777	.	.	ENSG00000183813	ENST00000330953	T	0.37915	1.17	5.95	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.102131	0.43260	D	0.000599	T	0.37073	0.0990	M	0.78223	2.4	0.58432	D	0.999998	B	0.18863	0.031	B	0.17433	0.018	T	0.28427	-1.0044	10	0.59425	D	0.04	.	6.2024	0.20583	0.0:0.6504:0.138:0.2116	.	142	P51679	CCR4_HUMAN	V	142	ENSP00000332659:A142V	ENSP00000332659:A142V	A	+	2	0	CCR4	32970343	0.999000	0.42202	0.159000	0.22649	0.390000	0.30446	4.088000	0.57678	0.828000	0.34709	0.655000	0.94253	GCG		0.488	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			40	126	0	0	0	0	40	126				
GLB1	2720	broad.mit.edu	37	3	33058317	33058318	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33058317_33058318GG>AA	ENST00000399402.3	-	14	1403_1404	c.1272_1273CC>TT	c.(1270-1275)gtCCtt>gtTTtt	p.L425F	GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Missense_Mutation_p.L503F|GLB1_ENST00000307377.8_Missense_Mutation_p.L324F|GLB1_ENST00000307363.5_Missense_Mutation_p.L455F	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	455					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTTCGCTCAAGGACTCCCTGGG	0.48																																						uc003cfi.1		NA																	0				large_intestine(1)	1						c.(1360-1365)GTCCTT>GTTTTT		galactosidase, beta 1 isoform a preproprotein																																				SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33058317_33058318GG>AA	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1272_1273delinsAA	3.37:g.33058317_33058318delinsAA	ENSP00000382333:p.Leu425Phe					GLB1_uc003cfh.1_Missense_Mutation_p.L425F|GLB1_uc003cfj.1_Missense_Mutation_p.L324F|GLB1_uc011axk.1_Missense_Mutation_p.L503F	p.L455F	NM_000404	NP_000395	P16278	BGAL_HUMAN			14	1479_1480	-		Melanoma(143;0.104)	455					B2R7H8|B7Z6B0|P16279	Missense_Mutation	DNP	ENST00000399402.3	37	c.1362_1363CC>TT	CCDS43062.1																																																																																				0.480	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		14	60	0	0	0	0	14	60				
GLB1	2720	broad.mit.edu	37	3	33109732	33109733	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33109732_33109733GG>AA	ENST00000399402.3	-	4	487_488	c.356_357CC>TT	c.(355-357)tCC>tTT	p.S119F	GLB1_ENST00000445488.2_Missense_Mutation_p.S197F|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Missense_Mutation_p.S149F	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	149					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CTGGGTCGGAGGAGCGGAGAAG	0.49																																						uc003cfi.1		NA																	0				large_intestine(1)	1						c.(445-447)TCC>TTT		galactosidase, beta 1 isoform a preproprotein																																				SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33109732_33109733GG>AA	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.356_357delinsAA	3.37:g.33109732_33109733delinsAA	ENSP00000382333:p.Ser119Phe					GLB1_uc003cfh.1_Missense_Mutation_p.S119F|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Missense_Mutation_p.S197F	p.S149F	NM_000404	NP_000395	P16278	BGAL_HUMAN			4	563_564	-		Melanoma(143;0.104)	149		S -> F (in MPS4B; 2.0% of wild-type enzyme activity).			B2R7H8|B7Z6B0|P16279	Missense_Mutation	DNP	ENST00000399402.3	37	c.446_447CC>TT	CCDS43062.1																																																																																				0.490	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		14	52	0	0	0	0	14	52				
SUSD5	26032	broad.mit.edu	37	3	33194670	33194670	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33194670G>A	ENST00000309558.3	-	5	1871	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	485					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATAGGACAGGGTGGCCATGGG	0.522																																						uc003cfo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1453-1455)ACC>ATC		sushi domain containing 5 precursor							121.0	125.0	124.0					3																	33194670		2023	4180	6203	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33194670G>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1454C>T	3.37:g.33194670G>A	ENSP00000308727:p.Thr485Ile						p.T485I	NM_015551	NP_056366	O60279	SUSD5_HUMAN			5	1872	-			485			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000309558.3	37	c.1454C>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315672	0.23908	.	.	ENSG00000173705	ENST00000309558	T	0.11821	2.74	5.56	4.69	0.59074	.	0.186157	0.47093	D	0.000257	T	0.17450	0.0419	M	0.69823	2.125	0.09310	N	0.999993	P	0.36010	0.532	B	0.36922	0.236	T	0.20438	-1.0275	10	0.87932	D	0	-12.4479	8.1671	0.31233	0.1878:0.0:0.8122:0.0	.	485	O60279	SUSD5_HUMAN	I	485	ENSP00000308727:T485I	ENSP00000308727:T485I	T	-	2	0	SUSD5	33169674	0.037000	0.19845	0.181000	0.23098	0.030000	0.12068	2.217000	0.42880	1.351000	0.45789	0.650000	0.86243	ACC		0.522	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		7	30	0	0	0	0	7	30				
EPM2AIP1	9852	broad.mit.edu	37	3	37033026	37033026	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:37033026T>C	ENST00000322716.5	-	1	1769	c.1543A>G	c.(1543-1545)Aat>Gat	p.N515D	MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000539477.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	515					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TTCCAAAGATTAGTGTTTGCC	0.383																																						uc003cgk.2		NA																	0					0						c.(1543-1545)AAT>GAT		EPM2A interacting protein 1							54.0	50.0	51.0					3																	37033026		1837	4076	5913	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37033026T>C	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1543A>G	3.37:g.37033026T>C	ENSP00000406027:p.Asn515Asp					MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.N515D	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN			1	1770	-			515					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.1543A>G	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	T	3.417	-0.118891	0.06838	.	.	ENSG00000178567	ENST00000322716	T	0.12984	2.63	4.71	1.75	0.24633	.	.	.	.	.	T	0.06280	0.0162	N	0.12182	0.205	0.19300	N	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.45338	-0.9268	9	0.10902	T	0.67	0.5516	6.5053	0.22192	0.0:0.3852:0.0:0.6148	.	515	Q7L775	EPMIP_HUMAN	D	515	ENSP00000406027:N515D	ENSP00000406027:N515D	N	-	1	0	EPM2AIP1	37008030	0.111000	0.22076	0.995000	0.50966	0.998000	0.95712	-0.014000	0.12656	0.150000	0.19136	0.533000	0.62120	AAT		0.383	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		6	13	0	0	0	0	6	13				
DLEC1	9940	broad.mit.edu	37	3	38087117	38087117	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38087117G>A	ENST00000308059.6	+	2	516	c.495G>A	c.(493-495)gcG>gcA	p.A165A	DLEC1_ENST00000452631.2_Silent_p.A165A|DLEC1_ENST00000346219.3_Silent_p.A165A					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GGGCTATTGCGGAAAATGAGC	0.542																																						uc003cho.1		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(493-495)GCG>GCA		deleted in lung and esophageal cancer 1 isoform							68.0	69.0	69.0					3																	38087117		1932	4136	6068	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38087117G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.495G>A	3.37:g.38087117G>A						DLEC1_uc003chp.1_Silent_p.A165A|DLEC1_uc010hgv.1_Silent_p.A165A	p.A165A	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	2	516	+			165						Silent	SNP	ENST00000308059.6	37	c.495G>A	CCDS2672.2																																																																																				0.542	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		11	41	0	0	0	0	11	41				
XYLB	9942	broad.mit.edu	37	3	38409713	38409713	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38409713T>C	ENST00000207870.3	+	8	701	c.611T>C	c.(610-612)tTc>tCc	p.F204S	XYLB_ENST00000542835.1_Missense_Mutation_p.F67S	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	204					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCTTCCCTGTTCCTTGGCTCT	0.517																																						uc003cic.2		NA																	0				ovary(1)	1						c.(610-612)TTC>TCC		xylulokinase							252.0	217.0	229.0					3																	38409713		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38409713T>C	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.611T>C	3.37:g.38409713T>C	ENSP00000207870:p.Phe204Ser					XYLB_uc011ayp.1_Missense_Mutation_p.F67S|XYLB_uc003cid.1_Missense_Mutation_p.F126S	p.F204S	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	8	720	+			204					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.611T>C	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418999	0.83559	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.47177	0.85;0.85	4.84	4.84	0.62591	Carbohydrate kinase, FGGY, N-terminal (1);	0.053233	0.85682	D	0.000000	T	0.72407	0.3456	M	0.90198	3.095	0.51767	D	0.999937	D;D	0.71674	0.998;0.996	D;D	0.75020	0.985;0.985	T	0.78917	-0.2015	10	0.87932	D	0	.	12.6797	0.56914	0.0:0.0:0.0:1.0	.	67;204	B4DDT2;O75191	.;XYLB_HUMAN	S	204;67	ENSP00000207870:F204S;ENSP00000443659:F67S	ENSP00000207870:F204S	F	+	2	0	XYLB	38384717	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	7.049000	0.76613	1.943000	0.56356	0.455000	0.32223	TTC		0.517	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		29	82	0	0	0	0	29	82				
SCN5A	6331	broad.mit.edu	37	3	38639322	38639322	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38639322G>T	ENST00000333535.4	-	14	2309	c.2160C>A	c.(2158-2160)gaC>gaA	p.D720E	SCN5A_ENST00000451551.2_Missense_Mutation_p.D720E|SCN5A_ENST00000425664.1_Missense_Mutation_p.D720E|SCN5A_ENST00000450102.2_Missense_Mutation_p.D720E|SCN5A_ENST00000449557.2_Missense_Mutation_p.D720E|SCN5A_ENST00000413689.1_Missense_Mutation_p.D720E|SCN5A_ENST00000455624.2_Missense_Mutation_p.D720E|SCN5A_ENST00000423572.2_Missense_Mutation_p.D720E|SCN5A_ENST00000414099.2_Missense_Mutation_p.D720E|SCN5A_ENST00000443581.1_Missense_Mutation_p.D720E			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	720					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGATGGTGAGGTCAGTAAACG	0.547																																						uc003cio.2		NA																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(2158-2160)GAC>GAA		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						153.0	155.0	154.0					3																	38639322		2150	4264	6414	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639322G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2160C>A	3.37:g.38639322G>T	ENSP00000328968:p.Asp720Glu					SCN5A_uc003cin.2_Missense_Mutation_p.D720E|SCN5A_uc003cil.3_Missense_Mutation_p.D720E|SCN5A_uc010hhi.2_Missense_Mutation_p.D720E|SCN5A_uc010hhk.2_Missense_Mutation_p.D720E|SCN5A_uc011ayr.1_Missense_Mutation_p.D720E|SCN5A_uc010hhj.1_Missense_Mutation_p.D331E	p.D720E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2354	-	Medulloblastoma(35;0.163)		720			Helical; Name=S1 of repeat II; (Potential).		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2160C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	8.628	0.893111	0.17613	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	4.68	2.89	0.33648	.	0.098598	0.64402	D	0.000002	D	0.95446	0.8521	N	0.13352	0.335	0.39983	D	0.974943	D;B;D;D;B;B;B	0.89917	0.999;0.001;1.0;0.999;0.001;0.013;0.002	D;B;D;D;B;B;B	0.83275	0.987;0.003;0.996;0.987;0.001;0.019;0.006	D	0.92444	0.5964	10	0.21540	T	0.41	.	10.6062	0.45396	0.1572:0.0:0.8428:0.0	.	720;720;720;720;720;720;720	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	E	720	ENSP00000398962:D720E;ENSP00000398266:D720E;ENSP00000410257:D720E;ENSP00000388797:D720E;ENSP00000397915:D720E;ENSP00000416634:D720E;ENSP00000328968:D720E;ENSP00000399524:D720E;ENSP00000403355:D720E;ENSP00000413996:D720E	ENSP00000328968:D720E	D	-	3	2	SCN5A	38614326	1.000000	0.71417	0.996000	0.52242	0.507000	0.33981	2.790000	0.47821	0.603000	0.29913	0.491000	0.48974	GAC		0.547	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		6	54	1	0	0.00116845	0.00118027	6	54				
SCN10A	6336	broad.mit.edu	37	3	38739520	38739520	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38739520C>T	ENST00000449082.2	-	27	5190	c.5191G>A	c.(5191-5193)Gag>Aag	p.E1731K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1731					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCAGTGCTCTCCTCCGTGGCC	0.478																																						uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(5191-5193)GAG>AAG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						109.0	104.0	106.0					3																	38739520		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739520C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5191G>A	3.37:g.38739520C>T	ENSP00000390600:p.Glu1731Lys						p.E1731K	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	5191	-			1731					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.5191G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895750	0.91962	.	.	ENSG00000185313	ENST00000449082	D	0.96232	-3.95	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.98074	0.9365	M	0.77712	2.385	0.58432	D	0.999992	D	0.65815	0.995	D	0.79108	0.992	D	0.98630	1.0671	10	0.87932	D	0	.	19.3209	0.94237	0.0:1.0:0.0:0.0	.	1731	Q9Y5Y9	SCNAA_HUMAN	K	1731	ENSP00000390600:E1731K	ENSP00000390600:E1731K	E	-	1	0	SCN10A	38714524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.800000	0.96347	0.655000	0.94253	GAG		0.478	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		10	40	0	0	0	0	10	40				
SCN10A	6336	broad.mit.edu	37	3	38743591	38743591	+	Nonsense_Mutation	SNP	G	G	A	rs199931920	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38743591G>A	ENST00000449082.2	-	26	4395	c.4396C>T	c.(4396-4398)Cag>Tag	p.Q1466*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1466					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACAAAACCCTGGAACTTGTTC	0.463																																						uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4396-4398)CAG>TAG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						76.0	70.0	72.0					3																	38743591		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38743591G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4396C>T	3.37:g.38743591G>A	ENSP00000390600:p.Gln1466*						p.Q1466*	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	26	4396	-			1466					A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.4396C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	43	9.981101	0.99309	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5207	0.87786	0.0:0.0:1.0:0.0	.	.	.	.	X	1466	.	ENSP00000390600:Q1466X	Q	-	1	0	SCN10A	38718595	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.595000	0.98260	2.364000	0.80123	0.557000	0.71058	CAG		0.463	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		7	30	0	0	0	0	7	30				
SCN10A	6336	broad.mit.edu	37	3	38748836	38748836	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38748836C>T	ENST00000449082.2	-	25	4319	c.4320G>A	c.(4318-4320)aaG>aaA	p.K1440K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1440					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGTAGTATTTCTTCTGCTCCT	0.537																																						uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4318-4320)AAG>AAA		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						127.0	135.0	132.0					3																	38748836		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38748836C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4320G>A	3.37:g.38748836C>T							p.K1440K	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	25	4320	-			1440					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.4320G>A	CCDS33736.1																																																																																				0.537	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		47	100	0	0	0	0	47	100				
CCR3	1232	broad.mit.edu	37	3	46306731	46306731	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:46306731G>A	ENST00000357422.2	+	4	625	c.82G>A	c.(82-84)Gat>Aat	p.D28N	CCR3_ENST00000395942.2_Missense_Mutation_p.D28N|CCR3_ENST00000545097.1_Missense_Mutation_p.D49N|CCR3_ENST00000541018.1_Missense_Mutation_p.D28N|CCR3_ENST00000395940.2_Missense_Mutation_p.D28N			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	28					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TGAAAAAGCTGATACCAGAGC	0.502																																						uc003cpg.1		NA																	0				ovary(3)|lung(3)|breast(1)|kidney(1)	8						c.(82-84)GAT>AAT		CC chemokine receptor 3 isoform 1							117.0	106.0	110.0					3																	46306731		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306731G>A	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.82G>A	3.37:g.46306731G>A	ENSP00000350003:p.Asp28Asn					CCR3_uc003cpi.1_Missense_Mutation_p.D28N|CCR3_uc003cpj.1_Missense_Mutation_p.D28N|CCR3_uc003cpk.1_Missense_Mutation_p.D49N|CCR3_uc010hjb.1_Missense_Mutation_p.D46N|CCR3_uc003cpl.1_Missense_Mutation_p.D61N	p.D28N	NM_178329	NP_847899	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	625	+			28			Extracellular (Potential).		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.82G>A	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	G	5.695	0.312866	0.10789	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000452454;ENST00000395942	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	6.07	0.902	0.19290	.	1.266180	0.05475	N	0.553711	T	0.17492	0.0420	N	0.11818	0.18	0.09310	N	1	B;B;B;B	0.16802	0.005;0.019;0.002;0.001	B;B;B;B	0.15052	0.005;0.012;0.008;0.003	T	0.19844	-1.0293	10	0.02654	T	1	.	5.9687	0.19340	0.6346:0.0:0.2564:0.109	.	28;28;49;28	Q8TDP5;Q8TDP6;F5GWL6;P51677	.;.;.;CCR3_HUMAN	N	28;49;28;28;28;28	ENSP00000350003:D28N;ENSP00000441600:D49N;ENSP00000440097:D28N;ENSP00000379271:D28N;ENSP00000389336:D28N;ENSP00000379273:D28N	ENSP00000350003:D28N	D	+	1	0	CCR3	46281735	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.036000	0.13819	-0.069000	0.12931	-0.302000	0.09304	GAT		0.502	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			6	21	0	0	0	0	6	21				
NBEAL2	23218	broad.mit.edu	37	3	47037517	47037517	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:47037517C>T	ENST00000450053.3	+	15	2306	c.2127C>T	c.(2125-2127)ccC>ccT	p.P709P	NBEAL2_ENST00000292309.5_Silent_p.P709P|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	709					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGACAGCACCCCTTCGCTGCC	0.607																																						uc003cqp.2		NA																	0				ovary(1)	1						c.(2125-2127)CCC>CCT		neurobeachin-like 2							45.0	48.0	47.0					3																	47037517		2026	4175	6201	SO:0001819	synonymous_variant	23218						binding	g.chr3:47037517C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.2127C>T	3.37:g.47037517C>T						NBEAL2_uc010hjm.1_Silent_p.P270P	p.P709P	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	15	2306	+		Acute lymphoblastic leukemia(5;0.0534)	709					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.2127C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	9.467	1.094576	0.20471	.	.	ENSG00000160796	ENST00000416683	T	0.74002	-0.8	4.85	1.92	0.25849	.	0.288336	0.34178	N	0.004193	T	0.72195	0.3430	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71111	-0.4687	7	0.62326	D	0.03	.	3.3193	0.07044	0.1393:0.4085:0.3505:0.1018	.	.	.	.	L	181	ENSP00000410405:P181L	ENSP00000410405:P181L	P	+	2	0	NBEAL2	47012521	0.809000	0.29036	0.801000	0.32222	0.990000	0.78478	0.106000	0.15354	1.222000	0.43521	0.655000	0.94253	CCC		0.607	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		4	11	0	0	0	0	4	11				
KLHL18	23276	broad.mit.edu	37	3	47378140	47378140	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:47378140C>T	ENST00000232766.5	+	7	1034	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	KLHL18_ENST00000455924.2_Silent_p.L226L	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	338										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACGGGCTTCTCTATGCCATCG	0.592																																						uc003crd.2		NA																	0					0						c.(1012-1014)CTC>CTT		kelch-like 18							73.0	67.0	69.0					3																	47378140		2203	4300	6503	SO:0001819	synonymous_variant	23276							g.chr3:47378140C>T	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1014C>T	3.37:g.47378140C>T						KLHL18_uc003crc.2_Silent_p.L338L|KLHL18_uc011bav.1_Silent_p.L226L|KLHL18_uc010hjq.1_Silent_p.L194L	p.L338L	NM_025010	NP_079286	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	7	1140	+		Acute lymphoblastic leukemia(5;0.164)	338			Kelch 2.		A8K612|Q7Z3E8|Q8N125	Silent	SNP	ENST00000232766.5	37	c.1014C>T	CCDS33749.1																																																																																				0.592	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		15	26	0	0	0	0	15	26				
PLXNB1	5364	broad.mit.edu	37	3	48447184	48447185	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48447184_48447185CC>TT	ENST00000358536.4	-	37	6518_6519	c.6249_6250GG>AA	c.(6247-6252)ggGGcg>ggAAcg	p.A2084T	PLXNB1_ENST00000358459.4_Missense_Mutation_p.A1901T|PLXNB1_ENST00000296440.6_Missense_Mutation_p.A2084T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A1901T|PLXNB1_ENST00000448774.2_Missense_Mutation_p.A695T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2084					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACTCGCGCCCCGAGGTCTC	0.614																																						uc003csw.2		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(6247-6252)GGGGCG>GGAACG		plexin B1 precursor																																				SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48447184_48447185CC>TT	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.6249_6250delinsTT	3.37:g.48447184_48447185delinsTT	ENSP00000351338:p.Ala2084Thr					PLXNB1_uc003cst.2_Missense_Mutation_p.A534T|PLXNB1_uc003csu.2_Missense_Mutation_p.A1901T|PLXNB1_uc003csx.2_Missense_Mutation_p.A2084T	p.A2084T	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	37	6519_6520	-			2084			Cytoplasmic (Potential).		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	DNP	ENST00000358536.4	37	c.6249_6250GG>AA	CCDS2765.1																																																																																				0.614	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		9	25	0	0	0	0	9	25				
CELSR3	1951	broad.mit.edu	37	3	48677667	48677667	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48677667C>T	ENST00000164024.4	-	34	9631	c.9351G>A	c.(9349-9351)cgG>cgA	p.R3117R	CELSR3_ENST00000544264.1_Silent_p.R3122R	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3117					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTGCTGCCCCGATCTTTGG	0.677																																						uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(9349-9351)CGG>CGA		cadherin EGF LAG seven-pass G-type receptor 3							34.0	38.0	37.0					3																	48677667		2202	4294	6496	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677667C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9351G>A	3.37:g.48677667C>T						CELSR3_uc003cuf.1_Silent_p.R3215R|CELSR3_uc010hkf.2_Silent_p.R407R|CELSR3_uc010hkg.2_Silent_p.R1100R	p.R3117R	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	34	9632	-			3117			Cytoplasmic (Potential).		O75092	Silent	SNP	ENST00000164024.4	37	c.9351G>A	CCDS2775.1																																																																																				0.677	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		19	33	0	0	0	0	19	33				
CELSR3	1951	broad.mit.edu	37	3	48681721	48681721	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48681721C>T	ENST00000164024.4	-	27	8373	c.8093G>A	c.(8092-8094)gGg>gAg	p.G2698E	CELSR3_ENST00000544264.1_Missense_Mutation_p.G2703E|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2698					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAACATGGTCCCGTTCATCTG	0.607																																						uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(8092-8094)GGG>GAG		cadherin EGF LAG seven-pass G-type receptor 3							58.0	54.0	55.0					3																	48681721		2202	4299	6501	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48681721C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8093G>A	3.37:g.48681721C>T	ENSP00000164024:p.Gly2698Glu					CELSR3_uc003cuf.1_Missense_Mutation_p.G2795E|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.G681E	p.G2698E	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	27	8374	-			2698			Helical; Name=5; (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.8093G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	c	29.2	4.986762	0.93106	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.43294	0.95;0.95	5.13	5.13	0.70059	GPCR, family 2-like (1);	.	.	.	.	T	0.65375	0.2685	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.971;1.0	P;D	0.97110	0.893;1.0	T	0.66929	-0.5799	9	0.51188	T	0.08	.	18.5642	0.91112	0.0:1.0:0.0:0.0	.	2698;2795	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	E	2698;2703	ENSP00000164024:G2698E;ENSP00000445694:G2703E	ENSP00000164024:G2698E	G	-	2	0	CELSR3	48656725	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	3.478000	0.53158	2.382000	0.81193	0.556000	0.70494	GGG		0.607	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		11	30	0	0	0	0	11	30				
CELSR3	1951	broad.mit.edu	37	3	48685393	48685393	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48685393G>A	ENST00000164024.4	-	20	7290	c.7010C>T	c.(7009-7011)cCc>cTc	p.P2337L	CELSR3_ENST00000544264.1_Missense_Mutation_p.P2342L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2337					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCCCCGGGGAGAACTGGG	0.617																																						uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(7009-7011)CCC>CTC		cadherin EGF LAG seven-pass G-type receptor 3							96.0	107.0	103.0					3																	48685393		2203	4298	6501	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48685393G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7010C>T	3.37:g.48685393G>A	ENSP00000164024:p.Pro2337Leu					CELSR3_uc003cuf.1_Missense_Mutation_p.P2407L|CELSR3_uc010hkg.2_Missense_Mutation_p.P320L	p.P2337L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	20	7291	-			2337			Extracellular (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7010C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	4.076	0.011959	0.07912	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.07567	3.18;3.18	4.94	3.09	0.35607	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.002;0.006	T	0.41805	-0.9488	9	0.08837	T	0.75	.	11.897	0.52661	0.0:0.1324:0.7298:0.1378	.	2337;2407	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	L	2337;2342	ENSP00000164024:P2337L;ENSP00000445694:P2342L	ENSP00000164024:P2337L	P	-	2	0	CELSR3	48660397	0.998000	0.40836	0.007000	0.13788	0.798000	0.45092	4.070000	0.57548	0.571000	0.29365	0.462000	0.41574	CCC		0.617	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		33	92	0	0	0	0	33	92				
HYAL3	8372	broad.mit.edu	37	3	50332191	50332191	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:50332191G>A	ENST00000336307.1	-	2	1115	c.843C>T	c.(841-843)gtC>gtT	p.V281V	IFRD2_ENST00000436390.1_5'Flank|HYAL3_ENST00000450982.1_Silent_p.V281V|IFRD2_ENST00000417626.2_5'Flank|HYAL3_ENST00000415204.1_Silent_p.V32V|HYAL3_ENST00000359051.3_Silent_p.V281V|HYAL3_ENST00000513170.1_Silent_p.V32V|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_5'Flank|IFRD2_ENST00000429673.2_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	281					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CATAGGCCAGGACAGGCAGGG	0.637																																						uc003czd.1		NA																	0				ovary(1)	1						c.(841-843)GTC>GTT		hyaluronoglucosaminidase 3 precursor							70.0	68.0	69.0					3																	50332191		2203	4300	6503	SO:0001819	synonymous_variant	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50332191G>A	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.843C>T	3.37:g.50332191G>A						HYAL3_uc003czc.1_Silent_p.V281V|HYAL3_uc003cze.1_Silent_p.V32V|HYAL3_uc003czf.1_Silent_p.V32V|HYAL3_uc003czg.1_Silent_p.V281V	p.V281V	NM_003549	NP_003540	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	1116	-			281					O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Silent	SNP	ENST00000336307.1	37	c.843C>T	CCDS2815.1																																																																																				0.637	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		17	43	0	0	0	0	17	43				
DOCK3	1795	broad.mit.edu	37	3	51394395	51394395	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:51394395G>A	ENST00000266037.9	+	44	4529	c.4506G>A	c.(4504-4506)gtG>gtA	p.V1502V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1502	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCCCTAGGTGGAGGTGAGCC	0.517																																						uc011bds.1		NA																	0					0						c.(4504-4506)GTG>GTA		dedicator of cytokinesis 3							46.0	46.0	46.0					3																	51394395		2057	4214	6271	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51394395G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4506G>A	3.37:g.51394395G>A							p.V1502V	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	44	4529	+			1502			DHR-2.		O15017	Silent	SNP	ENST00000266037.9	37	c.4506G>A	CCDS46835.1																																																																																				0.517	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		4	10	0	0	0	0	4	10				
STAB1	23166	broad.mit.edu	37	3	52544384	52544384	+	Missense_Mutation	SNP	C	C	T	rs377261442		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52544384C>T	ENST00000321725.6	+	25	2724	c.2648C>T	c.(2647-2649)tCc>tTc	p.S883F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	883	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTCCCTGGGTCCCTGGGCACC	0.602																																						uc003dej.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(2647-2649)TCC>TTC		stabilin 1 precursor		C	PHE/SER	0,4406		0,0,2203	94.0	87.0	89.0		2648	0.2	0.3	3		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAB1	NM_015136.2	155	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	883/2571	52544384	1,13005	2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52544384C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2648C>T	3.37:g.52544384C>T	ENSP00000312946:p.Ser883Phe						p.S883F	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	25	2722	+			883			Extracellular (Potential).|EGF-like 7.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.2648C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184432	0.38609	0.0	1.16E-4	ENSG00000010327	ENST00000321725	T	0.41758	0.99	5.76	0.194	0.15143	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.644904	0.14738	N	0.301310	T	0.24547	0.0595	L	0.27053	0.805	0.09310	N	1	B	0.22346	0.068	B	0.25405	0.06	T	0.18023	-1.0350	10	0.52906	T	0.07	.	2.4222	0.04451	0.338:0.3903:0.1265:0.1452	.	883	Q9NY15	STAB1_HUMAN	F	883	ENSP00000312946:S883F	ENSP00000312946:S883F	S	+	2	0	STAB1	52519424	0.031000	0.19500	0.273000	0.24645	0.966000	0.64601	0.777000	0.26718	0.295000	0.22570	0.655000	0.94253	TCC		0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		14	46	0	0	0	0	14	46				
STAB1	23166	broad.mit.edu	37	3	52554682	52554682	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52554682G>A	ENST00000321725.6	+	54	5750	c.5674G>A	c.(5674-5676)Gag>Aag	p.E1892K		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1892					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGTGGGCTGGAGCCACCCTG	0.647																																						uc003dej.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(5674-5676)GAG>AAG		stabilin 1 precursor							68.0	79.0	75.0					3																	52554682		2203	4299	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52554682G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5674G>A	3.37:g.52554682G>A	ENSP00000312946:p.Glu1892Lys					STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	p.E1892K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	54	5748	+			1892			Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.5674G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919431	0.52653	.	.	ENSG00000010327	ENST00000321725	D	0.84660	-1.88	5.49	4.56	0.56223	.	0.318671	0.33572	N	0.004770	T	0.71863	0.3390	L	0.34521	1.04	0.35357	D	0.78787	P	0.42203	0.773	B	0.31946	0.138	T	0.75260	-0.3380	10	0.07175	T	0.84	.	14.4171	0.67158	0.0:0.1466:0.8534:0.0	.	1892	Q9NY15	STAB1_HUMAN	K	1892	ENSP00000312946:E1892K	ENSP00000312946:E1892K	E	+	1	0	STAB1	52529722	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.525000	0.53502	2.735000	0.93741	0.655000	0.94253	GAG		0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		25	60	0	0	0	0	25	60				
PBRM1	55193	broad.mit.edu	37	3	52676029	52676029	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52676029G>A	ENST00000296302.7	-	10	1029	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	PBRM1_ENST00000337303.4_Missense_Mutation_p.S343L|PBRM1_ENST00000356770.4_Missense_Mutation_p.S311L|PBRM1_ENST00000410007.1_Missense_Mutation_p.S343L|PBRM1_ENST00000409767.1_Missense_Mutation_p.S343L|PBRM1_ENST00000409057.1_Missense_Mutation_p.S343L|PBRM1_ENST00000409114.3_Missense_Mutation_p.S343L|PBRM1_ENST00000394830.3_Missense_Mutation_p.S343L			Q86U86	PB1_HUMAN	polybromo 1	343					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGTAATTGCTGATAAACGACC	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NA		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(1027-1029)TCA>TTA		polybromo 1 isoform 4							293.0	276.0	281.0					3																	52676029		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52676029G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1028C>T	3.37:g.52676029G>A	ENSP00000296302:p.Ser343Leu					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.S343L|PBRM1_uc003der.2_Missense_Mutation_p.S311L|PBRM1_uc003det.2_Missense_Mutation_p.S343L|PBRM1_uc003deu.2_Missense_Mutation_p.S343L|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.S343L|PBRM1_uc010hmk.1_Missense_Mutation_p.S343L|PBRM1_uc003dey.2_Missense_Mutation_p.S343L|PBRM1_uc003dez.1_Missense_Mutation_p.S343L|PBRM1_uc003dfb.1_Missense_Mutation_p.S241L	p.S343L	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	10	1040	-			343					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1028C>T		.	.	.	.	.	.	.	.	.	.	G	24.0	4.485766	0.84854	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.38401	1.14;1.28;1.31;1.28;1.29;1.28;1.76;1.29;1.29;1.32	5.71	5.71	0.89125	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.76494	0.99;0.974;0.978;0.991;0.989;0.999;0.999;0.996;0.996	D;P;D;P;D;D;D;D;D	0.75020	0.917;0.736;0.948;0.895;0.985;0.981;0.915;0.937;0.937	T	0.33650	-0.9860	10	0.32370	T	0.25	-41.7501	19.8635	0.96793	0.0:0.0:1.0:0.0	.	343;343;343;343;343;343;343;311;343	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	L	311;343;343;343;343;343;343;343;343;287	ENSP00000349213:S311L;ENSP00000378307:S343L;ENSP00000296302:S343L;ENSP00000338302:S343L;ENSP00000386593:S343L;ENSP00000386529:S343L;ENSP00000386643:S343L;ENSP00000386601:S343L;ENSP00000387775:S343L;ENSP00000397662:S287L	ENSP00000296302:S343L	S	-	2	0	PBRM1	52651069	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	9.049000	0.93837	2.700000	0.92200	0.650000	0.86243	TCA		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		37	144	0	0	0	0	37	144				
ITIH3	3699	broad.mit.edu	37	3	52836770	52836770	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52836770T>C	ENST00000449956.2	+	13	1663	c.1657T>C	c.(1657-1659)Tac>Cac	p.Y553H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	553					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTCGGGAATTACATTGAGCG	0.617																																						uc003dfv.2		NA																	0				ovary(2)|liver(1)	3						c.(1657-1659)TAC>CAC		inter-alpha (globulin) inhibitor H3							80.0	89.0	86.0					3																	52836770		2096	4249	6345	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52836770T>C		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1657T>C	3.37:g.52836770T>C	ENSP00000415769:p.Tyr553His					ITIH3_uc011bek.1_Intron	p.Y553H	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	13	1693	+			553					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.1657T>C	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.955523	0.34471	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000449956	T	0.15372	2.43	5.28	5.28	0.74379	.	0.172305	0.50627	D	0.000102	T	0.11965	0.0291	N	0.21240	0.645	0.37129	D	0.901163	B	0.06786	0.001	B	0.10450	0.005	T	0.18085	-1.0348	9	.	.	.	-16.0258	12.8429	0.57813	0.0:0.0:0.0:1.0	.	553	Q06033	ITIH3_HUMAN	H	553;541;548;553	ENSP00000415769:Y553H	.	Y	+	1	0	ITIH3	52811810	1.000000	0.71417	0.865000	0.33974	0.638000	0.38207	5.030000	0.64128	2.217000	0.71921	0.533000	0.62120	TAC		0.617	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		6	24	0	0	0	0	6	24				
RFT1	91869	broad.mit.edu	37	3	53157826	53157826	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:53157826G>A	ENST00000296292.3	-	3	241	c.180C>T	c.(178-180)ttC>ttT	p.F60F	RFT1_ENST00000394738.3_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	60					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTCTGGCCAGGAAGAGGGTGG	0.498																																						uc003dgj.2		NA																	0				skin(1)	1						c.(178-180)TTC>TTT		RFT1 homolog							75.0	73.0	74.0					3																	53157826		2203	4300	6503	SO:0001819	synonymous_variant	91869				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	g.chr3:53157826G>A	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.180C>T	3.37:g.53157826G>A						RFT1_uc003dgk.2_Intron	p.F60F	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)	3	234	-			60			Helical; (Potential).		Q96J03	Silent	SNP	ENST00000296292.3	37	c.180C>T	CCDS2869.1																																																																																				0.498	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		7	26	0	0	0	0	7	26				
PRKCD	5580	broad.mit.edu	37	3	53221364	53221364	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:53221364C>T	ENST00000394729.2	+	14	1689	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	PRKCD_ENST00000330452.3_Missense_Mutation_p.A454V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	454	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGGTTTTATGCCGCTGAGATA	0.587																																						uc003dgl.2		NA																	0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(1360-1362)GCC>GTC		protein kinase C, delta							133.0	130.0	131.0					3																	53221364		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53221364C>T		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1361C>T	3.37:g.53221364C>T	ENSP00000378217:p.Ala454Val					PRKCD_uc003dgm.2_Missense_Mutation_p.A454V	p.A454V	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	15	1714	+		Ovarian(412;0.0728)	454			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.1361C>T	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466308	0.84425	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.65732	-0.17;-0.17	5.47	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.314985	0.33199	N	0.005174	T	0.49355	0.1552	L	0.28556	0.865	0.35936	D	0.832857	P	0.46457	0.878	B	0.39217	0.294	T	0.65096	-0.6251	10	0.62326	D	0.03	.	13.8927	0.63750	0.0:0.7762:0.2238:0.0	.	454	Q05655	KPCD_HUMAN	V	454	ENSP00000378217:A454V;ENSP00000331602:A454V	ENSP00000331602:A454V	A	+	2	0	PRKCD	53196404	0.894000	0.30519	0.952000	0.39060	0.896000	0.52359	1.727000	0.38095	2.572000	0.86782	0.591000	0.81541	GCC		0.587	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			13	65	0	0	0	0	13	65				
ERC2	26059	broad.mit.edu	37	3	56183087	56183087	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:56183087C>T	ENST00000288221.6	-	5	1478	c.1223G>A	c.(1222-1224)gGt>gAt	p.G408D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	408						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTTCAGCACACCATTGGCTTT	0.403																																						uc003dhr.1		NA																	0				ovary(2)	2						c.(1222-1224)GGT>GAT		cytomatrix protein p110							144.0	139.0	140.0					3																	56183087		1883	4111	5994	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56183087C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1223G>A	3.37:g.56183087C>T	ENSP00000288221:p.Gly408Asp						p.G408D	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	5	1479	-			408			Potential.		Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.1223G>A	CCDS46851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.471735|5.471735	0.96274|0.96274	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.44881|.	0.91|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.093347|.	0.85682|.	D|.	0.000000|.	T|T	0.77691|0.77691	0.4168|0.4168	M|M	0.74258|0.74258	2.255|2.255	0.52099|0.52099	D|D	0.999948|0.999948	D|.	0.54964|.	0.969|.	P|.	0.49665|.	0.618|.	T|T	0.75712|0.75712	-0.3222|-0.3222	10|5	0.72032|.	D|.	0.01|.	-10.1221|-10.1221	20.0966|20.0966	0.97849|0.97849	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	408|.	O15083|.	ERC2_HUMAN|.	D|M	408|47	ENSP00000288221:G408D|.	ENSP00000288221:G408D|.	G|V	-|-	2|1	0|0	ERC2|ERC2	56158127|56158127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	GGT|GTG		0.403	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		17	43	0	0	0	0	17	43				
PTPRG	5793	broad.mit.edu	37	3	62188887	62188887	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:62188887T>C	ENST00000474889.1	+	12	1795	c.1418T>C	c.(1417-1419)aTc>aCc	p.I473T	PTPRG_ENST00000295874.10_Missense_Mutation_p.I473T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	473					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATGGCCCCCATCAGCTCGGGG	0.587																																						uc003dlb.2		NA																	0				ovary(5)|lung(2)	7						c.(1417-1419)ATC>ACC		protein tyrosine phosphatase, receptor type, G							87.0	96.0	93.0					3																	62188887		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62188887T>C	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1418T>C	3.37:g.62188887T>C	ENSP00000418112:p.Ile473Thr					PTPRG_uc003dlc.2_Missense_Mutation_p.I473T	p.I473T	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	12	2137	+			473			Extracellular (Potential).		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.1418T>C	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031621	0.75504	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.61742	0.11;0.08	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.70552	0.3237	M	0.70275	2.135	0.58432	D	0.999996	D;D	0.56035	0.974;0.965	P;P	0.59115	0.852;0.777	T	0.75462	-0.3309	10	0.87932	D	0	.	13.7465	0.62879	0.0:0.0:0.0:1.0	.	473;473	P23470-2;P23470	.;PTPRG_HUMAN	T	473	ENSP00000418112:I473T;ENSP00000295874:I473T	ENSP00000295874:I473T	I	+	2	0	PTPRG	62163927	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.301000	0.78850	1.711000	0.51337	0.482000	0.46254	ATC		0.587	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		21	68	0	0	0	0	21	68				
PTPRG	5793	broad.mit.edu	37	3	62257095	62257095	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:62257095G>A	ENST00000474889.1	+	21	3424	c.3047G>A	c.(3046-3048)aGg>aAg	p.R1016K	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R987K|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1016	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGAATGAAAGGGTAGTGATC	0.478																																						uc003dlb.2		NA																	0				ovary(5)|lung(2)	7						c.(3046-3048)AGG>AAG		protein tyrosine phosphatase, receptor type, G							101.0	100.0	100.0					3																	62257095		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62257095G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3047G>A	3.37:g.62257095G>A	ENSP00000418112:p.Arg1016Lys					PTPRG_uc003dlc.2_Missense_Mutation_p.R987K|PTPRG_uc011bfi.1_Missense_Mutation_p.R262K|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	p.R1016K	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	21	3766	+			1016			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3047G>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037033	0.93630	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.14391	2.51;2.51	5.74	5.74	0.90152	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	M	0.73753	2.245	0.58432	D	0.999998	B;P;P	0.45986	0.069;0.684;0.87	B;P;P	0.52343	0.115;0.634;0.696	T	0.02333	-1.1175	10	0.87932	D	0	.	19.9111	0.97025	0.0:0.0:1.0:0.0	.	262;987;1016	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	K	1016;987	ENSP00000418112:R1016K;ENSP00000295874:R987K	ENSP00000295874:R987K	R	+	2	0	PTPRG	62232135	1.000000	0.71417	0.045000	0.18777	0.962000	0.63368	9.663000	0.98605	2.722000	0.93159	0.591000	0.81541	AGG		0.478	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		10	37	0	0	0	0	10	37				
THOC7	80145	broad.mit.edu	37	3	63823658	63823658	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:63823658G>A	ENST00000295899.5	-	4	458	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	116	Interaction with NIF3L1.|Interaction with THOC5.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTACCTTGGCGATTTTTTCGT	0.348																																					Colon(48;665 1127 6720 18651)	uc003dlt.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(346-348)CGC>TGC		Ngg1 interacting factor 3 like 1 binding protein							170.0	156.0	161.0					3																	63823658		2203	4299	6502	SO:0001583	missense	80145				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding	g.chr3:63823658G>A	BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"""THO complex subunits"""	29874	protein-coding gene	gene with protein product	"""Ngg1 interacting factor 3 like 1 binding protein 1"", ""functional spliceosome-associated protein 24"""	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.346C>T	3.37:g.63823658G>A	ENSP00000295899:p.Arg116Cys					C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Missense_Mutation_p.R53C	p.R116C	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)	4	477	-			116			Potential.|Interaction with THOC5.|Interaction with NIF3L1.		Q6P1L3|Q8WUF2|Q9H5H0	Missense_Mutation	SNP	ENST00000295899.5	37	c.346C>T	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360393	0.95877	.	.	ENSG00000163634	ENST00000295899	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.82692	0.5092	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82690	-0.0332	9	0.87932	D	0	-11.5863	20.6593	0.99626	0.0:0.0:1.0:0.0	.	116	Q6I9Y2	THOC7_HUMAN	C	116	.	ENSP00000295899:R116C	R	-	1	0	THOC7	63798698	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.646000	0.83445	2.885000	0.99019	0.655000	0.94253	CGC		0.348	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075		29	69	0	0	0	0	29	69				
ATXN7	6314	broad.mit.edu	37	3	63976037	63976037	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:63976037C>T	ENST00000295900.6	+	10	2097	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	ATXN7_ENST00000538065.1_Missense_Mutation_p.P516L|ATXN7_ENST00000398590.3_Missense_Mutation_p.P516L|ATXN7_ENST00000484332.1_Missense_Mutation_p.P371L|ATXN7_ENST00000487717.1_Missense_Mutation_p.P516L	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	516					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GGTCATCATCCTCAGCCAGCA	0.572																																						uc003dlw.3		NA																	0					0						c.(1546-1548)CCT>CTT		ataxin 7 isoform a							93.0	99.0	97.0					3																	63976037		2067	4208	6275	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63976037C>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1547C>T	3.37:g.63976037C>T	ENSP00000295900:p.Pro516Leu					ATXN7_uc003dlv.2_Missense_Mutation_p.P516L|ATXN7_uc010hnv.2_Missense_Mutation_p.P516L|ATXN7_uc011bfn.1_Missense_Mutation_p.P371L	p.P516L	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	10	2100	+		Prostate(884;0.0181)	516					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.1547C>T	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432045	0.96150	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73806	0.3634	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.76016	-0.3113	10	0.87932	D	0	-11.0323	20.3053	0.98627	0.0:1.0:0.0:0.0	.	371;516;516	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	L	516;516;516;516;371	ENSP00000381590:P516L;ENSP00000295900:P516L;ENSP00000420234:P516L;ENSP00000439585:P516L;ENSP00000428277:P371L	ENSP00000295900:P516L	P	+	2	0	ATXN7	63951077	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.808000	0.96608	0.655000	0.94253	CCT		0.572	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		9	31	0	0	0	0	9	31				
ADAMTS9	56999	broad.mit.edu	37	3	64587787	64587788	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:64587787_64587788GG>AA	ENST00000498707.1	-	26	4191_4192	c.3849_3850CC>TT	c.(3847-3852)atCCca>atTTca	p.P1284S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P1256S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1284	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCAGTTTCTGGGATATAATCCT	0.545																																						uc003dmg.2		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(3847-3852)ATCCCA>ATTTCA		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64587787_64587788GG>AA	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3849_3850delinsAA	3.37:g.64587787_64587788delinsAA	ENSP00000418735:p.Pro1284Ser					ADAMTS9_uc011bfo.1_Missense_Mutation_p.P1256S|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P1113S|ADAMTS9_uc011bfp.1_Missense_Mutation_p.P195S	p.P1284S	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	26	3881_3882	-		Lung NSC(201;0.00682)	1284			TSP type-1 8.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	DNP	ENST00000498707.1	37	c.3849_3850CC>TT	CCDS2903.1																																																																																				0.545	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			25	69	0	0	0	0	25	69				
CNTN3	5067	broad.mit.edu	37	3	74418486	74418486	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:74418486A>C	ENST00000263665.6	-	7	827	c.800T>G	c.(799-801)cTg>cGg	p.L267R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	267	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGAAAATGGCAGCCCATCACT	0.403																																						uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(799-801)CTG>CGG		contactin 3 precursor							57.0	56.0	57.0					3																	74418486		2203	4298	6501	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74418486A>C	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.800T>G	3.37:g.74418486A>C	ENSP00000263665:p.Leu267Arg						p.L267R	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	7	880	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	267			Ig-like C2-type 3.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.800T>G	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	A	8.380	0.837232	0.16891	.	.	ENSG00000113805	ENST00000263665	T	0.66099	-0.19	5.29	4.11	0.48088	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.513043	0.19874	N	0.104139	T	0.34629	0.0904	N	0.04787	-0.16	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.17258	-1.0375	10	0.16420	T	0.52	.	6.4957	0.22140	0.5918:0.1408:0.0:0.2674	.	267	Q9P232	CNTN3_HUMAN	R	267	ENSP00000263665:L267R	ENSP00000263665:L267R	L	-	2	0	CNTN3	74501176	0.101000	0.21875	0.929000	0.37066	0.997000	0.91878	1.822000	0.39052	0.820000	0.34516	0.482000	0.46254	CTG		0.403	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		19	38	0	0	0	0	19	38				
NSUN3	63899	broad.mit.edu	37	3	93803120	93803120	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:93803120G>A	ENST00000314622.4	+	3	503	c.292G>A	c.(292-294)Ggc>Agc	p.G98S		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	98							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CAGAACTCCGGGCCGAATCCC	0.423																																						uc003drl.1		NA																	0				skin(1)	1						c.(292-294)GGC>AGC		NOL1/NOP2/Sun domain family, member 3							87.0	92.0	90.0					3																	93803120		2203	4300	6503	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93803120G>A	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.292G>A	3.37:g.93803120G>A	ENSP00000318986:p.Gly98Ser						p.G98S	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN			3	408	+			98					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.292G>A	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	G	1.028	-0.682885	0.03353	.	.	ENSG00000178694	ENST00000314622	T	0.10288	2.89	5.81	-0.143	0.13444	.	0.611918	0.18210	N	0.148239	T	0.06005	0.0156	L	0.38175	1.15	0.09310	N	1	B	0.20671	0.047	B	0.16722	0.016	T	0.45614	-0.9249	10	0.02654	T	1	0.0318	6.6504	0.22959	0.3044:0.211:0.4845:0.0	.	98	Q9H649	NSUN3_HUMAN	S	98	ENSP00000318986:G98S	ENSP00000318986:G98S	G	+	1	0	NSUN3	95285810	0.010000	0.17322	0.000000	0.03702	0.260000	0.26232	0.372000	0.20467	-0.340000	0.08388	0.655000	0.94253	GGC		0.423	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		12	55	0	0	0	0	12	55				
OR5H15	403274	broad.mit.edu	37	3	97887665	97887665	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:97887665G>A	ENST00000356526.2	+	1	122	c.122G>A	c.(121-123)gGg>gAg	p.G41E		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACCATCATGGGGAATCTTGGT	0.408																																						uc011bgu.1		NA																	0				ovary(1)|skin(1)	2						c.(121-123)GGG>GAG		olfactory receptor, family 5, subfamily H,							149.0	150.0	150.0					3																	97887665		2203	4298	6501	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887665G>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.122G>A	3.37:g.97887665G>A	ENSP00000373195:p.Gly41Glu						p.G41E	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	122	+			41			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000356526.2	37	c.122G>A	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	14.99	2.701076	0.48307	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.04360	3.64	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000391	T	0.21590	0.0520	M	0.86343	2.81	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.01504	-1.1338	10	0.87932	D	0	.	10.7066	0.45958	0.0:0.0:1.0:0.0	.	41	A6NDH6	O5H15_HUMAN	E	41	ENSP00000373195:G41E	ENSP00000373195:G41E	G	+	2	0	OR5H15	99370355	0.004000	0.15560	0.002000	0.10522	0.452000	0.32318	1.173000	0.31920	1.386000	0.46466	0.184000	0.17185	GGG		0.408	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			87	145	0	0	0	0	87	145				
OR5K1	26339	broad.mit.edu	37	3	98188840	98188840	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:98188840C>T	ENST00000332650.5	+	1	517	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	140						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(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAAGAAACTCTGCATTCAGA	0.468																																						uc003dsm.2		NA																	0				large_intestine(1)	1						c.(418-420)CTC>CTT		olfactory receptor, family 5, subfamily K,							133.0	135.0	134.0					3																	98188840		2203	4300	6503	SO:0001819	synonymous_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188840C>T	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.420C>T	3.37:g.98188840C>T							p.L140L	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	420	+			140			Helical; Name=4; (Potential).		B9EGY5|Q6IF46	Silent	SNP	ENST00000332650.5	37	c.420C>T	CCDS43115.1																																																																																				0.468	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			20	107	0	0	0	0	20	107				
IMPG2	50939	broad.mit.edu	37	3	100995507	100995507	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:100995507C>T	ENST00000193391.7	-	5	771		c.e5+1			NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2						visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CAAAAGTATACCTCCCAATGT	0.318																																						uc003duq.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.e5+1		interphotoreceptor matrix proteoglycan 2							53.0	56.0	55.0					3																	100995507		2203	4300	6503	SO:0001630	splice_region_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100995507C>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.583+1G>A	3.37:g.100995507C>T						IMPG2_uc011bhe.1_Splice_Site_p.D58_splice	p.D195_splice	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			5	786	-								A8MWT5|Q9UKD4|Q9UKK5	Splice_Site	SNP	ENST00000193391.7	37	c.583_splice	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103512	0.56291	.	.	ENSG00000081148	ENST00000193391	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3673	0.74531	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IMPG2	102478197	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	3.772000	0.55325	2.682000	0.91365	0.455000	0.32223	.		0.318	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		Intron	20	45	0	0	0	0	20	45				
CD96	10225	broad.mit.edu	37	3	111261150	111261150	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:111261150G>T	ENST00000283285.5	+	1	186	c.55G>T	c.(55-57)Gtc>Ttc	p.V19F	CD96_ENST00000352690.4_Missense_Mutation_p.V19F|CD96_ENST00000438817.2_Missense_Mutation_p.V19F	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	19					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GATACATTTTGTCAAGGGTAA	0.438									Opitz Trigonocephaly syndrome																													uc003dxw.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(55-57)GTC>TTC		CD96 antigen isoform 1 precursor							128.0	119.0	122.0					3																	111261150		2203	4300	6503	SO:0001583	missense	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111261150G>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.55G>T	3.37:g.111261150G>T	ENSP00000283285:p.Val19Phe					CD96_uc003dxv.2_Missense_Mutation_p.V19F|CD96_uc003dxx.2_Missense_Mutation_p.V19F|CD96_uc010hpy.1_Missense_Mutation_p.V19F	p.V19F	NM_198196	NP_937839	P40200	TACT_HUMAN			1	225	+			19					Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.55G>T	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	3.674	-0.066924	0.07273	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.66995	-0.2;-0.22;-0.24	5.59	-1.98	0.07480	.	0.566504	0.16296	N	0.220674	T	0.36026	0.0952	N	0.11560	0.145	0.09310	N	0.999997	B;B;B;B	0.20261	0.025;0.043;0.025;0.025	B;B;B;B	0.21546	0.016;0.035;0.016;0.016	T	0.11916	-1.0568	10	0.25106	T	0.35	-0.9839	1.4935	0.02461	0.3553:0.1299:0.3742:0.1407	.	19;19;19;19	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	F	19	ENSP00000342040:V19F;ENSP00000283285:V19F;ENSP00000389801:V19F	ENSP00000283285:V19F	V	+	1	0	CD96	112743840	0.461000	0.25783	0.260000	0.24451	0.165000	0.22458	-0.254000	0.08781	-0.419000	0.07439	-0.423000	0.05987	GTC		0.438	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			23	35	1	0	1.97e-08	2.02e-08	23	35				
BOC	91653	broad.mit.edu	37	3	112991948	112991948	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:112991948C>T	ENST00000495514.1	+	8	1698	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	BOC_ENST00000273395.4_Silent_p.L332L|BOC_ENST00000355385.3_Silent_p.L332L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	332	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCTATCCCAGCTGGTCATCCC	0.632																																						uc003dzx.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(994-996)CTG>TTG		brother of CDO precursor							73.0	73.0	73.0					3																	112991948		2203	4300	6503	SO:0001819	synonymous_variant	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112991948C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.994C>T	3.37:g.112991948C>T						BOC_uc003dzy.2_Silent_p.L332L|BOC_uc003dzz.2_Silent_p.L332L|BOC_uc003eab.2_Silent_p.L33L	p.L332L	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		8	1615	+			332			Ig-like C2-type 4.|Extracellular (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	c.994C>T	CCDS2971.1																																																																																				0.632	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		22	61	0	0	0	0	22	61				
SIDT1	54847	broad.mit.edu	37	3	113323756	113323756	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:113323756G>A	ENST00000264852.4	+	14	2063		c.e14-1		SIDT1_ENST00000463226.1_Splice_Site|SIDT1_ENST00000393830.3_Splice_Site	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1						dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGCCTGCATAGGAACATCATC	0.453																																						uc003eak.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.e14-1		SID1 transmembrane family, member 1 precursor							123.0	112.0	116.0					3																	113323756		2203	4300	6503	SO:0001630	splice_region_variant	54847					integral to membrane		g.chr3:113323756G>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1338-1G>A	3.37:g.113323756G>A						SIDT1_uc011bif.1_Splice_Site|SIDT1_uc003eaj.1_Splice_Site_p.W446_splice|SIDT1_uc011big.1_Splice_Site_p.W199_splice|SIDT1_uc011bih.1_Splice_Site|SIDT1_uc011bii.1_5'Flank	p.W446_splice	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			14	1989	+								Q17RR4	Splice_Site	SNP	ENST00000264852.4	37	c.1338_splice	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402066	0.42613	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9595	0.97236	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIDT1	114806446	1.000000	0.71417	0.997000	0.53966	0.143000	0.21401	9.697000	0.98697	2.706000	0.92434	0.563000	0.77884	.		0.453	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699	Intron	19	114	0	0	0	0	19	114				
DRD3	1814	broad.mit.edu	37	3	113858410	113858410	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:113858410C>T	ENST00000460779.1	-	6	949	c.660G>A	c.(658-660)cgG>cgA	p.R220R	DRD3_ENST00000467632.1_Silent_p.R220R|DRD3_ENST00000383673.2_Silent_p.R220R|DRD3_ENST00000295881.7_Silent_p.R220R	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	220					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGATCCTTTTCCGTCTCCTTT	0.507																																						uc003ebd.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(658-660)CGG>CGA		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						197.0	192.0	193.0					3																	113858410		2203	4300	6503	SO:0001819	synonymous_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113858410C>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.660G>A	3.37:g.113858410C>T						DRD3_uc010hqn.1_Silent_p.R220R|DRD3_uc003ebb.1_Silent_p.R220R|DRD3_uc003ebc.1_Silent_p.R220R	p.R220R	NM_000796	NP_000787	P35462	DRD3_HUMAN			6	1083	-			220			Cytoplasmic.		A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.660G>A	CCDS2978.1																																																																																				0.507	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		63	115	0	0	0	0	63	115				
PLA1A	51365	broad.mit.edu	37	3	119325781	119325781	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:119325781C>A	ENST00000273371.4	+	2	306	c.234C>A	c.(232-234)ttC>ttA	p.F78L	PLA1A_ENST00000495992.1_Missense_Mutation_p.F78L|PLA1A_ENST00000494440.1_Missense_Mutation_p.F62L|PLA1A_ENST00000488919.1_Intron	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	78					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACTCTGGGTTCAATGCCACTC	0.443																																						uc003ecu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(232-234)TTC>TTA		phospholipase A1 member A precursor							141.0	148.0	146.0					3																	119325781		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119325781C>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.234C>A	3.37:g.119325781C>A	ENSP00000273371:p.Phe78Leu					PLA1A_uc003ecv.2_Missense_Mutation_p.F78L|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron	p.F78L	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			2	273	+			78					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.234C>A	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170445	0.38315	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.91996	-2.95;-2.95;-2.95	4.67	2.88	0.33553	Lipase, N-terminal (1);	0.044268	0.85682	D	0.000000	D	0.92156	0.7513	M	0.75264	2.295	0.41000	D	0.984927	P;D	0.54047	0.921;0.964	P;P	0.50314	0.504;0.637	D	0.90284	0.4317	10	0.46703	T	0.11	-21.2391	8.5339	0.33351	0.0:0.8164:0.0:0.1836	.	78;78	Q53H76-3;Q53H76	.;PLA1A_HUMAN	L	78;78;62	ENSP00000273371:F78L;ENSP00000417326:F78L;ENSP00000418793:F62L	ENSP00000273371:F78L	F	+	3	2	PLA1A	120808471	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.612000	0.24283	0.702000	0.31825	0.655000	0.94253	TTC		0.443	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			39	153	1	0	8.48e-28	8.83e-28	39	153				
POLQ	10721	broad.mit.edu	37	3	121151809	121151809	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:121151809G>A	ENST00000264233.5	-	29	7743	c.7615C>T	c.(7615-7617)Cat>Tat	p.H2539Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2539					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGTTCATCATGGAGTTGAAGG	0.413								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(7615-7617)CAT>TAT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							132.0	125.0	127.0					3																	121151809		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121151809G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7615C>T	3.37:g.121151809G>A	ENSP00000264233:p.His2539Tyr					POLQ_uc003eed.2_Missense_Mutation_p.H1711Y	p.H2539Y	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	29	7744	-			2539					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.7615C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048567	0.93740	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.99741	-6.6	6.07	6.07	0.98685	DNA-directed DNA polymerase, family A, palm domain (2);	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	H	0.98048	4.135	0.44816	D	0.997825	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96862	0.9633	10	0.87932	D	0	.	19.4308	0.94765	0.0:0.0:1.0:0.0	.	2539;1711	O75417;O75417-2	DPOLQ_HUMAN;.	Y	2162;2539;2675	ENSP00000264233:H2539Y	ENSP00000264233:H2539Y	H	-	1	0	POLQ	122634499	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.567000	0.90737	2.885000	0.99019	0.655000	0.94253	CAT		0.413	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		28	28	0	0	0	0	28	28				
POLQ	10721	broad.mit.edu	37	3	121207527	121207527	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:121207527G>A	ENST00000264233.5	-	16	4379	c.4251C>T	c.(4249-4251)ttC>ttT	p.F1417F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1417					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGGAGAATGGAAAATCGGGC	0.343								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4249-4251)TTC>TTT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							67.0	65.0	66.0					3																	121207527		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207527G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4251C>T	3.37:g.121207527G>A						POLQ_uc003eed.2_Silent_p.F589F	p.F1417F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4380	-			1417					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.4251C>T	CCDS33833.1																																																																																				0.343	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		12	62	0	0	0	0	12	62				
CD86	942	broad.mit.edu	37	3	121828255	121828255	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:121828255G>A	ENST00000330540.2	+	5	963	c.847G>A	c.(847-849)Gga>Aga	p.G283R	CD86_ENST00000393627.2_Splice_Site_p.G277R|CD86_ENST00000264468.5_Splice_Site_p.G70R|CD86_ENST00000469710.1_Splice_Site_p.G201R|CD86_ENST00000493101.1_Splice_Site_p.G171R	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	283					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TTATAAATGTGGTGAGTGAGT	0.473																																					GBM(67;1379 1389 36064 39806)	uc003eet.2		NA																	0				pancreas(1)|skin(1)	2						c.(847-849)GGA>AGA		CD86 antigen isoform 1	Abatacept(DB01281)						128.0	131.0	130.0					3																	121828255		2203	4300	6503	SO:0001630	splice_region_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121828255G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.847+1G>A	3.37:g.121828255G>A						CD86_uc011bjo.1_Missense_Mutation_p.G201R|CD86_uc011bjp.1_Missense_Mutation_p.G171R|CD86_uc003eeu.2_Missense_Mutation_p.G277R	p.G283R	NM_175862	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	5	963	+			283			Cytoplasmic (Potential).		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.847G>A	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584497	0.28268	.	.	ENSG00000114013	ENST00000469710;ENST00000493101;ENST00000330540;ENST00000264468;ENST00000393627	T;T;T;T;T	0.35421	3.27;2.47;4.2;1.31;4.2	4.45	3.57	0.40892	.	1.440130	0.04355	N	0.356451	T	0.21062	0.0507	N	0.08118	0	0.31615	N	0.65099	B;P	0.34462	0.187;0.454	B;B	0.27380	0.025;0.079	T	0.18650	-1.0330	10	0.48119	T	0.1	-8.3235	8.9046	0.35515	0.1015:0.0:0.8985:0.0	.	171;283	E9PC27;P42081	.;CD86_HUMAN	R	201;171;283;70;277	ENSP00000418988:G201R;ENSP00000420230:G171R;ENSP00000332049:G283R;ENSP00000264468:G70R;ENSP00000377248:G277R	ENSP00000264468:G70R	G	+	1	0	CD86	123310945	1.000000	0.71417	0.996000	0.52242	0.463000	0.32649	2.364000	0.44187	1.449000	0.47699	0.561000	0.74099	GGA		0.473	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889	Missense_Mutation	27	129	0	0	0	0	27	129				
CASR	846	broad.mit.edu	37	3	122003885	122003886	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:122003885_122003886GG>AA	ENST00000490131.1	+	7	3456_3457	c.3084_3085GG>AA	c.(3082-3087)caGGaa>caAAaa	p.E1029K	CASR_ENST00000296154.5_Missense_Mutation_p.E1029K|CASR_ENST00000498619.1_Missense_Mutation_p.E1039K	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1029					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGACCGTCCAGGAAACAGGTCT	0.584																																						uc003eev.3		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(3082-3087)CAGGAA>CAAAAA		calcium-sensing receptor precursor	Cinacalcet(DB01012)																																			SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003885_122003886GG>AA	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	Exception_encountered	3.37:g.122003885_122003886delinsAA	ENSP00000418685:p.Glu1029Lys					CASR_uc003eew.3_Missense_Mutation_p.E1039K	p.E1029K	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3456_3457	+			1029			Cytoplasmic (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	DNP	ENST00000490131.1	37	c.3084_3085GG>AA	CCDS3010.1																																																																																				0.584	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		9	59	0	0	0	0	9	59				
ALDH1L1	10840	broad.mit.edu	37	3	125855667	125855667	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:125855667C>T	ENST00000393434.2	-	11	1633	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	ALDH1L1_ENST00000393431.2_Silent_p.G428G|ALDH1L1_ENST00000472186.1_Silent_p.G428G|ALDH1L1_ENST00000452905.2_Silent_p.G327G|ALDH1L1_ENST00000273450.3_Silent_p.G438G	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	428	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCACGAACTCCCCCCCAATGA	0.592																																						uc003eim.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1282-1284)GGG>GGA		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						97.0	86.0	90.0					3																	125855667		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125855667C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1284G>A	3.37:g.125855667C>T						ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.G327G|ALDH1L1_uc003eio.2_Silent_p.G130G|ALDH1L1_uc010hsf.1_Silent_p.G454G	p.G428G	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	11	1474	-			428			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.1284G>A	CCDS3034.1																																																																																				0.592	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		4	16	0	0	0	0	4	16				
H1FOO	132243	broad.mit.edu	37	3	129267879	129267879	+	Silent	SNP	G	G	A	rs145471008		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129267879G>A	ENST00000324382.2	+	3	419	c.414G>A	c.(412-414)agG>agA	p.R138R	H1FOO_ENST00000503977.1_5'UTR	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	138					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)	p.R138R(1)		endometrium(1)|lung(4)|skin(1)	6						TCCAGCCCAGGAAGATGGCCC	0.647																																						uc003emu.2		NA																	1	Substitution - coding silent(1)	p.R138R(1)	skin(1)	skin(1)	1						c.(412-414)AGG>AGA		H1 histone family, member O, oocyte-specific							24.0	28.0	27.0					3																	129267879		2202	4298	6500	SO:0001819	synonymous_variant	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129267879G>A	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.414G>A	3.37:g.129267879G>A						H1FOO_uc003emv.2_5'UTR	p.R138R	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN			3	419	+			138					Q86WT7	Silent	SNP	ENST00000324382.2	37	c.414G>A	CCDS3064.1																																																																																				0.647	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3	NM_153833		3	19	0	0	0	0	3	19				
PLXND1	23129	broad.mit.edu	37	3	129292537	129292537	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129292537C>T	ENST00000324093.4	-	13	2915	c.2737G>A	c.(2737-2739)Gga>Aga	p.G913R	PLXND1_ENST00000393239.1_Missense_Mutation_p.G913R	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	913	IPT/TIG 1.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGGTTCCTTCCTCGGATGGTC	0.657																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	0				large_intestine(1)	1						c.(2737-2739)GGA>AGA		plexin D1 precursor							50.0	45.0	47.0					3																	129292537		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129292537C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2737G>A	3.37:g.129292537C>T	ENSP00000317128:p.Gly913Arg						p.G913R	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			13	2837	-			913			IPT/TIG 1.|Extracellular (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.2737G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200919	0.94997	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	D;D	0.98164	-4.76;-4.76	4.78	4.78	0.61160	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.062950	0.64402	D	0.000007	D	0.99269	0.9745	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98917	1.0782	10	0.87932	D	0	.	18.172	0.89749	0.0:1.0:0.0:0.0	.	913	Q9Y4D7	PLXD1_HUMAN	R	913	ENSP00000317128:G913R;ENSP00000376931:G913R	ENSP00000317128:G913R	G	-	1	0	PLXND1	130775227	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	7.150000	0.77403	2.378000	0.81104	0.655000	0.94253	GGA		0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		7	20	0	0	0	0	7	20				
PLXND1	23129	broad.mit.edu	37	3	129324699	129324699	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129324699C>T	ENST00000324093.4	-	1	962	c.784G>A	c.(784-786)Gac>Aac	p.D262N	PLXND1_ENST00000393239.1_Missense_Mutation_p.D262N	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	262	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGGATGTTGTCGTCGGAGGGG	0.662																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	0				large_intestine(1)	1						c.(784-786)GAC>AAC		plexin D1 precursor							38.0	34.0	36.0					3																	129324699		2202	4300	6502	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324699C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.784G>A	3.37:g.129324699C>T	ENSP00000317128:p.Asp262Asn						p.D262N	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			1	884	-			262			Extracellular (Potential).|Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.784G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	c	29.0	4.967549	0.92855	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.04654	3.58;3.58	3.56	3.56	0.40772	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.843269	0.10452	U	0.672928	T	0.18593	0.0446	L	0.57536	1.79	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.01436	-1.1355	10	0.44086	T	0.13	.	14.3818	0.66916	0.0:1.0:0.0:0.0	.	262	Q9Y4D7	PLXD1_HUMAN	N	262	ENSP00000317128:D262N;ENSP00000376931:D262N	ENSP00000317128:D262N	D	-	1	0	PLXND1	130807389	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.625000	0.67770	1.866000	0.54105	0.291000	0.19559	GAC		0.662	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		3	18	0	0	0	0	3	18				
TRH	7200	broad.mit.edu	37	3	129695865	129695865	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129695865G>A	ENST00000302649.3	+	3	1062	c.535G>A	c.(535-537)Gac>Aac	p.D179N	TRH_ENST00000507066.1_Missense_Mutation_p.D175N	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	179					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						gagagaggaagaCCTGATGCC	0.627																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.2		NA																	0				ovary(1)	1						c.(535-537)GAC>AAC		thyrotropin-releasing hormone							32.0	34.0	33.0					3																	129695865		2203	4300	6503	SO:0001583	missense	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695865G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.535G>A	3.37:g.129695865G>A	ENSP00000303452:p.Asp179Asn						p.D179N	NM_007117	NP_009048	P20396	TRH_HUMAN			3	1096	+			179					B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	c.535G>A	CCDS3066.1	.	.	.	.	.	.	.	.	.	.	G	7.282	0.609335	0.14066	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.48522	0.81;0.81	4.52	4.52	0.55395	.	1.358100	0.04363	N	0.357774	T	0.44603	0.1301	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22977	-1.0201	10	0.39692	T	0.17	-0.02	13.4611	0.61227	0.0:0.0:1.0:0.0	.	179	P20396	TRH_HUMAN	N	179;175	ENSP00000303452:D179N;ENSP00000426522:D175N	ENSP00000303452:D179N	D	+	1	0	TRH	131178555	0.004000	0.15560	0.005000	0.12908	0.154000	0.21943	1.293000	0.33353	2.449000	0.82847	0.563000	0.77884	GAC		0.627	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		17	30	0	0	0	0	17	30				
COL6A6	131873	broad.mit.edu	37	3	130313125	130313125	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:130313125G>A	ENST00000358511.6	+	17	4502	c.4471G>A	c.(4471-4473)Gga>Aga	p.G1491R	COL6A6_ENST00000453409.2_Splice_Site_p.G1491R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1491	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTAACTTTAGGGAAGCCCAGG	0.428																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(4471-4473)GGA>AGA		collagen type VI alpha 6 precursor							63.0	65.0	64.0					3																	130313125		1839	4072	5911	SO:0001630	splice_region_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130313125G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4471-1G>A	3.37:g.130313125G>A						COL6A6_uc003eni.3_5'UTR	p.G1491R	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			17	4502	+			1491			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4471G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548938	0.65311	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.99637	-6.29;-6.29	5.17	5.17	0.71159	.	0.000000	0.35936	N	0.002890	D	0.99796	0.9913	H	0.99425	4.56	0.49798	D	0.999826	D	0.63880	0.993	P	0.59546	0.859	D	0.96895	0.9656	9	.	.	.	.	15.9514	0.79843	0.0:0.0:1.0:0.0	.	1491	A6NMZ7	CO6A6_HUMAN	R	1491	ENSP00000351310:G1491R;ENSP00000399236:G1491R	.	G	+	1	0	COL6A6	131795815	1.000000	0.71417	0.999000	0.59377	0.502000	0.33828	5.478000	0.66806	2.575000	0.86900	0.650000	0.86243	GGA		0.428	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	Missense_Mutation	10	64	0	0	0	0	10	64				
PIK3R4	30849	broad.mit.edu	37	3	130452399	130452399	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:130452399G>A	ENST00000356763.3	-	4	2000	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	481					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TACCAGCATAGGCTAGTCTAA	0.353																																						uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(1441-1443)GCC>GCT		phosphoinositide-3-kinase, regulatory subunit 4							51.0	50.0	51.0					3																	130452399		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452399G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1443C>T	3.37:g.130452399G>A							p.A481A	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			4	2024	-			481			HEAT 2.		Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.1443C>T	CCDS3067.1																																																																																				0.353	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		8	46	0	0	0	0	8	46				
PCCB	5096	broad.mit.edu	37	3	136046022	136046022	+	Silent	SNP	C	C	T	rs397507445		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:136046022C>T	ENST00000251654.4	+	12	1294	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	PCCB_ENST00000468777.1_Silent_p.I439I|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000462637.1_Silent_p.I385I|PCCB_ENST00000466072.1_Silent_p.I428I|PCCB_ENST00000482086.1_Silent_p.I292I|PCCB_ENST00000471595.1_Silent_p.I408I|PCCB_ENST00000483687.1_Silent_p.I389I|PCCB_ENST00000490504.1_Silent_p.I351I|PCCB_ENST00000469217.1_Silent_p.I428I	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	408	Carboxyltransferase.		Missing (in PA-2). {ECO:0000269|PubMed:2154743, ECO:0000269|PubMed:8411997}.		biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	ACGGGGGCATCATCCGGCATG	0.522																																						uc003eqy.1		NA																	0					0						c.(1222-1224)ATC>ATT		propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)						97.0	89.0	92.0					3																	136046022		2203	4300	6503	SO:0001819	synonymous_variant	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136046022C>T		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.1224C>T	3.37:g.136046022C>T						PCCB_uc003eqz.1_Silent_p.I408I|PCCB_uc011bmc.1_Silent_p.I428I|PCCB_uc011bmd.1_3'UTR	p.I408I	NM_000532	NP_000523	P05166	PCCB_HUMAN			12	1275	+			408		Missing (in PA-2).	Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Silent	SNP	ENST00000251654.4	37	c.1224C>T	CCDS3089.1																																																																																				0.522	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			33	40	0	0	0	0	33	40				
IL20RB	53833	broad.mit.edu	37	3	136708318	136708318	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:136708318G>A	ENST00000329582.4	+	4	691	c.442G>A	c.(442-444)Gat>Aat	p.D148N	IL20RB_ENST00000484501.1_3'UTR|IL20RB_ENST00000309741.5_Missense_Mutation_p.D101N	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	148	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GATCACCAAAGATGGCTTCCA	0.567																																						uc003eri.1		NA																	0				ovary(1)	1						c.(442-444)GAT>AAT		interleukin 20 receptor beta precursor							87.0	82.0	84.0					3																	136708318		2203	4300	6503	SO:0001583	missense	53833					integral to membrane	receptor activity	g.chr3:136708318G>A	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.442G>A	3.37:g.136708318G>A	ENSP00000328133:p.Asp148Asn					IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_Missense_Mutation_p.D6N	p.D148N	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN			4	691	+			148			Extracellular (Potential).|Fibronectin type-III 2.		B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	ENST00000329582.4	37	c.442G>A	CCDS3093.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495430	0.64186	.	.	ENSG00000174564	ENST00000329582;ENST00000309741	T	0.41758	0.99	4.9	4.01	0.46588	Immunoglobulin-like fold (1);	0.090659	0.47455	D	0.000222	T	0.35856	0.0946	L	0.32530	0.975	0.30090	N	0.808406	D	0.54772	0.968	P	0.46419	0.516	T	0.30851	-0.9964	10	0.45353	T	0.12	-1.903	10.7585	0.46251	0.0:0.2017:0.7983:0.0	.	148	Q6UXL0	I20RB_HUMAN	N	148;101	ENSP00000328133:D148N	ENSP00000311979:D101N	D	+	1	0	IL20RB	138191008	0.981000	0.34729	0.868000	0.34077	0.978000	0.69477	1.918000	0.40006	1.261000	0.44149	0.655000	0.94253	GAT		0.567	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		9	55	0	0	0	0	9	55				
GRK7	131890	broad.mit.edu	37	3	141499323	141499323	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:141499323G>A	ENST00000264952.2	+	2	857	c.720G>A	c.(718-720)aaG>aaA	p.K240K		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTTGGAAAAGGAAATCTTGG	0.498																																						uc011bnd.1		NA																	0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(718-720)AAG>AAA		G-protein-coupled receptor kinase 7 precursor							118.0	116.0	116.0					3																	141499323		2203	4300	6503	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141499323G>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.720G>A	3.37:g.141499323G>A							p.K240K	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			2	804	+			240			Protein kinase.			Silent	SNP	ENST00000264952.2	37	c.720G>A	CCDS3120.1																																																																																				0.498	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		19	76	0	0	0	0	19	76				
XRN1	54464	broad.mit.edu	37	3	142048324	142048324	+	Silent	SNP	G	G	A	rs139447998		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:142048324G>A	ENST00000264951.4	-	37	4470	c.4353C>T	c.(4351-4353)tcC>tcT	p.S1451S	XRN1_ENST00000392981.2_Silent_p.S1452S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1451					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTCCAACAAGGGAACAAATTC	0.388																																						uc003eus.2		NA																	0				ovary(3)	3						c.(4351-4353)TCC>TCT		5'-3' exoribonuclease 1 isoform a		G	,	1,4405	2.1+/-5.4	0,1,2202	64.0	59.0	60.0		4353,4353	-0.6	1.0	3	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	XRN1	NM_001042604.1,NM_019001.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1451/1694,1451/1707	142048324	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142048324G>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4353C>T	3.37:g.142048324G>A						XRN1_uc010huu.2_Silent_p.S918S|XRN1_uc003eut.2_Silent_p.S1451S|XRN1_uc003euu.2_Silent_p.S1452S	p.S1451S	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			37	4420	-			1451					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	c.4353C>T	CCDS3123.1																																																																																				0.388	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		12	31	0	0	0	0	12	31				
SLC9A9	285195	broad.mit.edu	37	3	143371183	143371183	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:143371183G>A	ENST00000316549.6	-	6	877	c.669C>T	c.(667-669)ttC>ttT	p.F223F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	223					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCAGTTCATGGAAAATGGCCA	0.473																																						uc003evn.2		NA																	0				ovary(2)|skin(1)	3						c.(667-669)TTC>TTT		solute carrier family 9 (sodium/hydrogen							118.0	91.0	100.0					3																	143371183		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143371183G>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.669C>T	3.37:g.143371183G>A						SLC9A9_uc011bnk.1_Silent_p.F97F	p.F223F	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			6	851	-			223			Helical; (Potential).		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.669C>T	CCDS33872.1																																																																																				0.473	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		8	21	0	0	0	0	8	21				
TM4SF4	7104	broad.mit.edu	37	3	149205446	149205446	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:149205446G>A	ENST00000305354.4	+	3	1209	c.305G>A	c.(304-306)gGa>gAa	p.G102E		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	102					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGATTCTTGGGAGCTGGATAC	0.478																																						uc003exd.1		NA																	0					0						c.(304-306)GGA>GAA		transmembrane 4 superfamily member 4							173.0	165.0	168.0					3																	149205446		1950	4157	6107	SO:0001583	missense	7104					integral to membrane		g.chr3:149205446G>A		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.305G>A	3.37:g.149205446G>A	ENSP00000305852:p.Gly102Glu						p.G102E	NM_004617	NP_004608	P48230	T4S4_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		3	536	+			102			Helical; (Potential).		B2RDA4	Missense_Mutation	SNP	ENST00000305354.4	37	c.305G>A	CCDS46932.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601932	0.87055	.	.	ENSG00000169903	ENST00000305354;ENST00000465758	T	0.42900	0.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.74733	0.3755	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81400	-0.0950	10	0.87932	D	0	-3.8431	18.4049	0.90532	0.0:0.0:1.0:0.0	.	102	P48230	T4S4_HUMAN	E	102;72	ENSP00000305852:G102E	ENSP00000305852:G102E	G	+	2	0	TM4SF4	150688136	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.670000	0.74467	2.683000	0.91414	0.655000	0.94253	GGA		0.478	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			17	58	0	0	0	0	17	58				
CLRN1	7401	broad.mit.edu	37	3	150690369	150690369	+	Missense_Mutation	SNP	C	C	T	rs111033434		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:150690369C>T	ENST00000327047.1	-	1	417	c.127G>A	c.(127-129)Gga>Aga	p.G43R	CLRN1_ENST00000328863.4_Missense_Mutation_p.G43R|CLRN1-AS1_ENST00000465576.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	43					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCAGAGCTCCCGTTTTGCAG	0.547																																						uc003eyk.1		NA																	0					0						c.(127-129)GGA>AGA		clarin 1 isoform a							119.0	109.0	112.0					3																	150690369		2203	4300	6503	SO:0001583	missense	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150690369C>T	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.127G>A	3.37:g.150690369C>T	ENSP00000322280:p.Gly43Arg					CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_5'Flank	p.G43R	NM_174878	NP_777367	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	418	-			43					D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	c.127G>A	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951951	0.92660	.	.	ENSG00000163646	ENST00000327047;ENST00000328863	T;T	0.70399	-0.33;-0.48	5.35	5.35	0.76521	.	0.056026	0.64402	D	0.000001	D	0.82912	0.5140	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.84472	0.0600	10	0.87932	D	0	-17.5283	19.0655	0.93108	0.0:1.0:0.0:0.0	.	43	P58418	CLRN1_HUMAN	R	43	ENSP00000322280:G43R;ENSP00000329158:G43R	ENSP00000322280:G43R	G	-	1	0	CLRN1	152173059	1.000000	0.71417	0.933000	0.37362	0.974000	0.67602	7.279000	0.78599	2.514000	0.84764	0.511000	0.50034	GGA		0.547	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			26	102	0	0	0	0	26	102				
MED12L	116931	broad.mit.edu	37	3	150876480	150876480	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:150876480G>A	ENST00000474524.1	+	6	769	c.731G>A	c.(730-732)gGa>gAa	p.G244E	MED12L_ENST00000422248.2_Missense_Mutation_p.G244E|MED12L_ENST00000309237.4_Missense_Mutation_p.G244E|MED12L_ENST00000273432.4_Missense_Mutation_p.G244E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	244						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTAAGGAAGGAATGTTAGAA	0.303																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(730-732)GGA>GAA		mediator of RNA polymerase II transcription,							66.0	64.0	65.0					3																	150876480		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150876480G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.731G>A	3.37:g.150876480G>A	ENSP00000417235:p.Gly244Glu					MED12L_uc011bnz.1_Missense_Mutation_p.G244E|MED12L_uc003eym.1_Missense_Mutation_p.G244E|MED12L_uc003eyn.2_Missense_Mutation_p.G244E|MED12L_uc003eyo.2_Missense_Mutation_p.G244E	p.G244E	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	769	+			244					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.731G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624542	0.87560	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.70399	0.01;-0.04;-0.28;-0.48	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.83876	0.5349	M	0.71206	2.165	0.40622	D	0.981775	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.86162	0.1594	10	0.87932	D	0	-15.2373	18.4436	0.90676	0.0:0.0:1.0:0.0	.	244;244;244;244	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	E	244	ENSP00000403308:G244E;ENSP00000310760:G244E;ENSP00000417235:G244E;ENSP00000273432:G244E	ENSP00000273432:G244E	G	+	2	0	MED12L	152359170	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.194000	0.89721	2.519000	0.84933	0.467000	0.42956	GGA		0.303	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		9	26	0	0	0	0	9	26				
IGSF10	285313	broad.mit.edu	37	3	151155338	151155338	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:151155338C>T	ENST00000282466.3	-	6	7010	c.7011G>A	c.(7009-7011)ccG>ccA	p.P2337P	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2337	Ig-like C2-type 10.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTAAATGTCGGTCTTCTCA	0.433																																						uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(7009-7011)CCG>CCA		immunoglobulin superfamily, member 10 precursor							128.0	129.0	128.0					3																	151155338		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155338C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7011G>A	3.37:g.151155338C>T						IGSF10_uc011bob.1_Silent_p.P364P|IGSF10_uc011boc.1_Silent_p.P316P	p.P2337P	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	7011	-			2337			Ig-like C2-type 10.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.7011G>A	CCDS3160.1																																																																																				0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		41	69	0	0	0	0	41	69				
VEPH1	79674	broad.mit.edu	37	3	157082173	157082173	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:157082173C>T	ENST00000362010.2	-	8	1563	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	VEPH1_ENST00000392832.2_Missense_Mutation_p.G419E|VEPH1_ENST00000392833.2_Missense_Mutation_p.G419E|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.G419E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	419						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTATTGCTCCCTGCATTTAT	0.373																																						uc003fbj.1		NA																	0				breast(3)|ovary(1)|lung(1)	5						c.(1255-1257)GGG>GAG		ventricular zone expressed PH domain homolog 1							144.0	139.0	141.0					3																	157082173		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157082173C>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1256G>A	3.37:g.157082173C>T	ENSP00000354919:p.Gly419Glu					VEPH1_uc003fbk.1_Missense_Mutation_p.G419E|VEPH1_uc010hvu.1_Missense_Mutation_p.G419E	p.G419E	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		8	1573	-			419					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1256G>A	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.282101	0.00251	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.06218	3.34;3.33;3.34;3.33	5.71	3.28	0.37604	.	0.546956	0.19001	N	0.125342	T	0.01695	0.0054	N	0.01168	-0.975	0.09310	N	0.99999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47235	-0.9133	10	0.02654	T	1	-11.374	5.3303	0.15928	0.0:0.2087:0.1377:0.6535	.	419;419	Q14D04-2;Q14D04	.;MELT_HUMAN	E	419	ENSP00000376578:G419E;ENSP00000354919:G419E;ENSP00000446258:G419E;ENSP00000376577:G419E	ENSP00000354919:G419E	G	-	2	0	VEPH1	158564867	0.692000	0.27719	0.002000	0.10522	0.021000	0.10359	2.241000	0.43097	0.096000	0.17463	-0.269000	0.10298	GGG		0.373	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		14	87	0	0	0	0	14	87				
VEPH1	79674	broad.mit.edu	37	3	157099102	157099102	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:157099102G>A	ENST00000362010.2	-	7	1277	c.970C>T	c.(970-972)Cac>Tac	p.H324Y	VEPH1_ENST00000392832.2_Missense_Mutation_p.H324Y|VEPH1_ENST00000392833.2_Missense_Mutation_p.H324Y|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.H324Y	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	324						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGAATATGGTGAAACGAATGC	0.473																																						uc003fbj.1		NA																	0				breast(3)|ovary(1)|lung(1)	5						c.(970-972)CAC>TAC		ventricular zone expressed PH domain homolog 1							120.0	117.0	118.0					3																	157099102		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157099102G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.970C>T	3.37:g.157099102G>A	ENSP00000354919:p.His324Tyr					VEPH1_uc003fbk.1_Missense_Mutation_p.H324Y|VEPH1_uc010hvu.1_Missense_Mutation_p.H324Y	p.H324Y	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		7	1287	-			324					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.970C>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899810	0.91962	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.59215	-0.7496	10	0.54805	T	0.06	-1.7561	18.3449	0.90318	0.0:0.0:1.0:0.0	.	324;324	Q14D04-2;Q14D04	.;MELT_HUMAN	Y	324	ENSP00000376578:H324Y;ENSP00000354919:H324Y;ENSP00000446258:H324Y;ENSP00000376577:H324Y	ENSP00000354919:H324Y	H	-	1	0	VEPH1	158581796	1.000000	0.71417	0.829000	0.32907	0.830000	0.47004	9.104000	0.94239	2.569000	0.86673	0.655000	0.94253	CAC		0.473	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		14	67	0	0	0	0	14	67				
BCHE	590	broad.mit.edu	37	3	165503942	165503942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:165503942C>A	ENST00000264381.3	-	3	1841	c.1675G>T	c.(1675-1677)Gaa>Taa	p.E559*	BCHE_ENST00000540653.1_Nonsense_Mutation_p.E21*	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	559					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CCTGTCATTTCCAAGACTTTT	0.358																																						uc003fem.3		NA																	0				ovary(3)|pancreas(1)	4						c.(1675-1677)GAA>TAA		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						111.0	100.0	104.0					3																	165503942		2203	4299	6502	SO:0001587	stop_gained	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165503942C>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1675G>T	3.37:g.165503942C>A	ENSP00000264381:p.Glu559*					BCHE_uc003fen.3_RNA	p.E559*	NM_000055	NP_000046	P06276	CHLE_HUMAN			3	1835	-			559					A8K7P8	Nonsense_Mutation	SNP	ENST00000264381.3	37	c.1675G>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570573	0.86542	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653;ENST00000488954	.	.	.	5.72	5.72	0.89469	.	0.224007	0.46145	D	0.000320	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	14.4762	0.67548	0.0:0.8534:0.1466:0.0	.	.	.	.	X	559;89;21;89	.	ENSP00000264381:E559X	E	-	1	0	BCHE	166986636	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	2.152000	0.42272	2.705000	0.92388	0.655000	0.94253	GAA		0.358	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			11	51	1	0	6.82e-15	7.05e-15	11	51				
LRRIQ4	344657	broad.mit.edu	37	3	169540214	169540214	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:169540214G>A	ENST00000340806.6	+	1	505	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	169										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CAAGCTGAGGGAGATCTACCT	0.493																																						uc003fgb.2		NA																	0					0						c.(505-507)GAG>AAG		leucine-rich repeats and IQ motif containing 4							60.0	62.0	61.0					3																	169540214		1941	4134	6075	SO:0001583	missense	344657							g.chr3:169540214G>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.505G>A	3.37:g.169540214G>A	ENSP00000342188:p.Glu169Lys						p.E169K	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	505	+			169			LRR 7.			Missense_Mutation	SNP	ENST00000340806.6	37	c.505G>A	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836713	0.91117	.	.	ENSG00000188306	ENST00000340806	T	0.15487	2.42	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	T	0.32133	0.0819	L	0.37466	1.105	0.43819	D	0.996389	D	0.89917	1.0	D	0.81914	0.995	T	0.01711	-1.1290	10	0.17369	T	0.5	.	19.1287	0.93396	0.0:0.0:1.0:0.0	.	169	A6NIV6	LRIQ4_HUMAN	K	169	ENSP00000342188:E169K	ENSP00000342188:E169K	E	+	1	0	LRRIQ4	171022908	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.183000	0.58317	2.631000	0.89168	0.462000	0.41574	GAG		0.493	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		9	54	0	0	0	0	9	54				
PLD1	5337	broad.mit.edu	37	3	171443857	171443857	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:171443857G>A	ENST00000351298.4	-	7	742	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	PLD1_ENST00000342215.6_Missense_Mutation_p.L206F|PLD1_ENST00000340989.4_Missense_Mutation_p.L206F|PLD1_ENST00000356327.5_Missense_Mutation_p.L206F	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	206	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTATATCAAGAAACTCTGTC	0.318																																					NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	0				ovary(2)|lung(1)	3						c.(616-618)CTT>TTT		phospholipase D1 isoform a	Choline(DB00122)						111.0	106.0	108.0					3																	171443857		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171443857G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.616C>T	3.37:g.171443857G>A	ENSP00000342793:p.Leu206Phe					PLD1_uc003fht.2_Missense_Mutation_p.L206F	p.L206F	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		7	732	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		206			PX.			Missense_Mutation	SNP	ENST00000351298.4	37	c.616C>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933984	0.73442	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.6	5.6	0.85130	Phox homologous domain (5);	0.108844	0.64402	D	0.000008	T	0.74122	0.3675	M	0.76727	2.345	0.45914	D	0.998753	D;B	0.57571	0.98;0.334	P;B	0.60682	0.878;0.1	T	0.73183	-0.4063	10	0.36615	T	0.2	-15.1808	11.974	0.53081	0.0:0.0:0.7223:0.2776	.	229;206	Q59EA4;Q13393	.;PLD1_HUMAN	F	206	ENSP00000348681:L206F;ENSP00000342793:L206F;ENSP00000339936:L206F;ENSP00000340326:L206F	ENSP00000340326:L206F	L	-	1	0	PLD1	172926551	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.136000	0.58004	2.633000	0.89246	0.650000	0.86243	CTT		0.318	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		16	48	0	0	0	0	16	48				
MFN1	55669	broad.mit.edu	37	3	179104303	179104304	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:179104303_179104304GG>AA	ENST00000471841.1	+	16	2024_2025	c.1898_1899GG>AA	c.(1897-1899)tGG>tAA	p.W633*	MFN1_ENST00000280653.7_Nonsense_Mutation_p.W522*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.W633*	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	633					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGACTGAGCTGGACCACCCATG	0.401																																						uc003fjs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1897-1899)TGG>TAA		mitofusin 1																																				SO:0001587	stop_gained	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179104303_179104304GG>AA	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	Exception_encountered	3.37:g.179104303_179104304delinsAA	ENSP00000420617:p.Trp633*					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Nonsense_Mutation_p.W661*|MFN1_uc010hxc.2_Nonsense_Mutation_p.W375*	p.W633*	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		16	2024_2025	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		633			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Nonsense_Mutation	DNP	ENST00000471841.1	37	c.1898_1899GG>AA	CCDS3228.1																																																																																				0.401	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		20	62	0	0	0	0	20	62				
PEX5L	51555	broad.mit.edu	37	3	179576913	179576913	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:179576913G>A	ENST00000467460.1	-	8	1089	c.759C>T	c.(757-759)agC>agT	p.S253S	PEX5L_ENST00000465751.1_Silent_p.S229S|PEX5L_ENST00000468741.1_Silent_p.S61S|PEX5L_ENST00000392649.3_Silent_p.S145S|PEX5L_ENST00000476138.1_Silent_p.S210S|PEX5L_ENST00000485199.1_Silent_p.S218S|PEX5L_ENST00000263962.8_Silent_p.S251S|PEX5L_ENST00000472994.1_Silent_p.S194S|PEX5L_ENST00000464614.1_Silent_p.S145S|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	253					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AAAGTAATGCGCTTCCCCAGC	0.368																																						uc003fki.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(757-759)AGC>AGT		peroxisomal biogenesis factor 5-like							124.0	124.0	124.0					3																	179576913		2203	4300	6503	SO:0001819	synonymous_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179576913G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.759C>T	3.37:g.179576913G>A						PEX5L_uc011bqd.1_Silent_p.S210S|PEX5L_uc011bqe.1_Silent_p.S61S|PEX5L_uc011bqf.1_Silent_p.S145S|PEX5L_uc003fkj.1_Silent_p.S218S|PEX5L_uc010hxd.1_Silent_p.S251S|PEX5L_uc011bqg.1_Silent_p.S229S|PEX5L_uc011bqh.1_Silent_p.S194S	p.S253S	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		8	889	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		253					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	ENST00000467460.1	37	c.759C>T	CCDS3236.1																																																																																				0.368	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		23	80	0	0	0	0	23	80				
KLHL6	89857	broad.mit.edu	37	3	183217505	183217505	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183217505C>T	ENST00000341319.3	-	4	1055	c.1020G>A	c.(1018-1020)ctG>ctA	p.L340L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	340					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCAGGGGGTCCAGGCAGGTCA	0.577																																						uc003flr.2		NA																	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(1018-1020)CTG>CTA		kelch-like 6							78.0	70.0	73.0					3																	183217505		2203	4300	6503	SO:0001819	synonymous_variant	89857							g.chr3:183217505C>T	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1020G>A	3.37:g.183217505C>T						KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Intron	p.L340L	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		4	1078	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		340			Kelch 1.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	c.1020G>A	CCDS3245.2																																																																																				0.577	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		11	54	0	0	0	0	11	54				
KLHL24	54800	broad.mit.edu	37	3	183368285	183368285	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183368285C>T	ENST00000454652.2	+	4	527	c.141C>T	c.(139-141)tcC>tcT	p.S47S	KLHL24_ENST00000242810.6_Silent_p.S47S|KLHL24_ENST00000476808.1_Silent_p.S47S	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	47						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CAGGATCATCCCATGCCGAAA	0.403																																						uc003flv.2		NA																	0				ovary(1)	1						c.(139-141)TCC>TCT		DRE1 protein							111.0	112.0	111.0					3																	183368285		2203	4300	6503	SO:0001819	synonymous_variant	54800					axon|cytoplasm|perikaryon		g.chr3:183368285C>T		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.141C>T	3.37:g.183368285C>T						KLHL24_uc003flw.2_Silent_p.S47S|KLHL24_uc003flx.2_Silent_p.S47S	p.S47S	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		3	436	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		47					A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	c.141C>T	CCDS3246.1																																																																																				0.403	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		21	93	0	0	0	0	21	93				
YEATS2	55689	broad.mit.edu	37	3	183508723	183508723	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183508723C>T	ENST00000305135.5	+	21	3247	c.3052C>T	c.(3052-3054)Ctc>Ttc	p.L1018F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1018					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CGCCACGTCCCTCGTGCCTAC	0.537																																						uc003fly.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(3052-3054)CTC>TTC		YEATS domain containing 2							104.0	115.0	111.0					3																	183508723		2054	4201	6255	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183508723C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3052C>T	3.37:g.183508723C>T	ENSP00000306983:p.Leu1018Phe					YEATS2_uc003flz.2_Missense_Mutation_p.L97F	p.L1018F	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		21	3247	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1018					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.3052C>T	CCDS43175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.40|16.40	3.112991|3.112991	0.56398|0.56398	.|.	.|.	ENSG00000163872|ENSG00000163872	ENST00000421660;ENST00000305135|ENST00000432781	T|.	0.26810|.	1.71|.	5.68|5.68	2.96|2.96	0.34315|0.34315	.|.	0.105480|.	0.37178|.	N|.	0.002212|.	T|T	0.40546|0.40546	0.1121|0.1121	N|N	0.24115|0.24115	0.695|0.695	0.43574|0.43574	D|D	0.995907|0.995907	D;P|.	0.67145|.	0.996;0.829|.	P;B|.	0.62740|.	0.906;0.36|.	T|T	0.08249|0.08249	-1.0731|-1.0731	10|5	0.59425|.	D|.	0.04|.	-11.6902|-11.6902	8.5433|8.5433	0.33406|0.33406	0.0:0.7016:0.0:0.2984|0.0:0.7016:0.0:0.2984	.|.	180;1018|.	Q8N5H6;Q9ULM3|.	.;YETS2_HUMAN|.	F|L	1018|203	ENSP00000306983:L1018F|.	ENSP00000306983:L1018F|.	L|P	+|+	1|2	0|0	YEATS2|YEATS2	184991417|184991417	0.938000|0.938000	0.31826|0.31826	1.000000|1.000000	0.80357|0.80357	0.494000|0.494000	0.33585|0.33585	0.417000|0.417000	0.21214|0.21214	0.354000|0.354000	0.24105|0.24105	0.585000|0.585000	0.79938|0.79938	CTC|CCT		0.537	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		26	90	0	0	0	0	26	90				
HTR3D	200909	broad.mit.edu	37	3	183756374	183756374	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183756374G>A	ENST00000382489.3	+	7	1097	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR3D_ENST00000453435.1_Missense_Mutation_p.G145E|HTR3D_ENST00000334128.2_Missense_Mutation_p.G191E|HTR3D_ENST00000428798.2_Missense_Mutation_p.G316E	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	366					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CCCCAGAAGGGAAATAAGGGC	0.657																																						uc011bqv.1		NA																	0					0						c.(1096-1098)GGA>GAA		5-hydroxytryptamine receptor 3 subunit D isoform							32.0	36.0	35.0					3																	183756374		2203	4300	6503	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756374G>A	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1097G>A	3.37:g.183756374G>A	ENSP00000371929:p.Gly366Glu					HTR3D_uc003fmj.2_Missense_Mutation_p.G191E|HTR3D_uc011bqu.1_Missense_Mutation_p.G316E|HTR3D_uc010hxp.2_Missense_Mutation_p.G145E	p.G366E	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	1097	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		366			Cytoplasmic (Potential).		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.1097G>A	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	G	3.938	-0.014879	0.07681	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	3.53	-0.382	0.12481	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.887861	0.09502	N	0.793442	T	0.59500	0.2198	N	0.12569	0.235	0.09310	N	1	B;B;B;B	0.21225	0.053;0.004;0.001;0.004	B;B;B;B	0.28916	0.096;0.013;0.009;0.017	T	0.48019	-0.9071	10	0.06365	T	0.9	-1.6503	5.9798	0.19401	0.5118:0.0:0.4882:0.0	.	366;191;145;191	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	E	191;316;366;145	ENSP00000334315:G191E;ENSP00000405409:G316E;ENSP00000371929:G366E;ENSP00000389268:G145E	ENSP00000334315:G191E	G	+	2	0	HTR3D	185239068	0.000000	0.05858	0.016000	0.15963	0.100000	0.18952	-0.274000	0.08537	0.011000	0.14865	0.462000	0.41574	GGA		0.657	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		3	20	0	0	0	0	3	20				
CLCN2	1181	broad.mit.edu	37	3	184064422	184064422	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:184064422G>C	ENST00000265593.4	-	24	2840	c.2669C>G	c.(2668-2670)cCt>cGt	p.P890R	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.P873R|CLCN2_ENST00000457512.1_Missense_Mutation_p.P861R|CLCN2_ENST00000434054.2_Missense_Mutation_p.P846R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	890					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCTGTCGGAAGGGCTGCCCTC	0.622																																						uc003foi.2		NA																	0					0						c.(2668-2670)CCT>CGT		chloride channel 2	Lubiprostone(DB01046)						55.0	54.0	54.0					3																	184064422		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184064422G>C	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2669C>G	3.37:g.184064422G>C	ENSP00000265593:p.Pro890Arg					CLCN2_uc003foh.2_Missense_Mutation_p.P379R|CLCN2_uc010hya.1_Missense_Mutation_p.P873R|CLCN2_uc011brl.1_Missense_Mutation_p.P861R|CLCN2_uc011brm.1_Missense_Mutation_p.P846R	p.P890R	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		24	2793	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		890			Cytoplasmic (By similarity).		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.2669C>G	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	g	14.84	2.656447	0.47467	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.85088	-1.83;-1.78;-1.87;-1.94	5.37	5.37	0.77165	.	0.137762	0.48286	D	0.000186	D	0.83613	0.5292	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.21821	0.036;0.036;0.061;0.036;0.036	B;B;B;B;B	0.23716	0.022;0.022;0.048;0.022;0.022	T	0.79808	-0.1647	10	0.49607	T	0.09	-11.3722	19.116	0.93340	0.0:0.0:1.0:0.0	.	846;861;873;890;846	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	R	890;873;846;861	ENSP00000265593:P890R;ENSP00000345056:P873R;ENSP00000400425:P846R;ENSP00000391928:P861R	ENSP00000265593:P890R	P	-	2	0	CLCN2	185547116	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.408000	0.52651	2.535000	0.85469	0.561000	0.74099	CCT		0.622	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			6	52	0	0	0	0	6	52				
CLCN2	1181	broad.mit.edu	37	3	184071990	184071990	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:184071990C>T	ENST00000265593.4	-	15	1791	c.1620G>A	c.(1618-1620)ctG>ctA	p.L540L	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Silent_p.L523L|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000457512.1_Silent_p.L540L|CLCN2_ENST00000434054.2_Silent_p.L496L	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	540					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGCGTTGGCCAGGATGACGG	0.612											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003foi.2		NA																	0					0						c.(1618-1620)CTG>CTA		chloride channel 2	Lubiprostone(DB01046)						84.0	72.0	76.0					3																	184071990		2203	4300	6503	SO:0001819	synonymous_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184071990C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1620G>A	3.37:g.184071990C>T			OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	CLCN2_uc003foh.2_Silent_p.L64L|CLCN2_uc010hya.1_Silent_p.L523L|CLCN2_uc011brl.1_Silent_p.L540L|CLCN2_uc011brm.1_Silent_p.L496L	p.L540L	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		15	1744	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		540			Helical; (By similarity).		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	ENST00000265593.4	37	c.1620G>A	CCDS3263.1																																																																																				0.612	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			7	33	0	0	0	0	7	33				
MAP3K13	9175	broad.mit.edu	37	3	185146818	185146818	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:185146818C>T	ENST00000265026.3	+	2	783	c.449C>T	c.(448-450)tCc>tTc	p.S150F	MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S150F|MAP3K13_ENST00000443863.1_Intron	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGGCATATTCCACTGATTAC	0.443																																						uc010hyf.2		NA																	0				ovary(2)|skin(1)	3						c.(448-450)TCC>TTC		mitogen-activated protein kinase kinase kinase							80.0	78.0	79.0					3																	185146818		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185146818C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.449C>T	3.37:g.185146818C>T	ENSP00000265026:p.Ser150Phe					MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_Intron|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Missense_Mutation_p.S150F|MAP3K13_uc010hyg.2_5'UTR	p.S150F	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		3	715	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		150						Missense_Mutation	SNP	ENST00000265026.3	37	c.449C>T	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079907	0.76528	.	.	ENSG00000073803	ENST00000424227;ENST00000265026	D;D	0.89415	-2.51;-2.51	5.51	5.51	0.81932	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87877	0.6288	M	0.67953	2.075	0.80722	D	1	P	0.37985	0.613	B	0.33521	0.165	D	0.86877	0.2039	9	.	.	.	.	19.4218	0.94725	0.0:1.0:0.0:0.0	.	150	O43283	M3K13_HUMAN	F	150	ENSP00000399910:S150F;ENSP00000265026:S150F	.	S	+	2	0	MAP3K13	186629512	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.709000	0.84645	2.583000	0.87209	0.655000	0.94253	TCC		0.443	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		9	41	0	0	0	0	9	41				
TRA2B	6434	broad.mit.edu	37	3	185643253	185643253	+	Splice_Site	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:185643253C>G	ENST00000453386.2	-	3	607	c.332G>C	c.(331-333)cGg>cCg	p.R111P	TRA2B_ENST00000382191.4_Splice_Site_p.R11P|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	111	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R111L(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TCATCTTACCCGATTCCCAAC	0.443																																						uc003fpv.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(331-333)CGG>CCG		splicing factor, arginine/serine-rich 10							114.0	99.0	104.0					3																	185643253		2203	4300	6503	SO:0001630	splice_region_variant	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185643253C>G	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.333+1G>C	3.37:g.185643253C>G						TRA2B_uc003fpt.2_5'Flank|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.R11P|TRA2B_uc003fpw.2_Missense_Mutation_p.R111P	p.R111P	NM_004593	NP_004584	P62995	TRA2B_HUMAN			3	608	-			111			Arg/Ser-rich (RS1 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.332G>C	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312326	0.95655	.	.	ENSG00000136527	ENST00000453386;ENST00000382191	T;T	0.34072	1.38;2.0	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.979	T	0.64170	-0.6470	10	0.56958	D	0.05	-1.947	19.6509	0.95805	0.0:1.0:0.0:0.0	.	111;111	B2RDQ3;P62995	.;TRA2B_HUMAN	P	111;11	ENSP00000416959:R111P;ENSP00000371626:R11P	ENSP00000371626:R11P	R	-	2	0	TRA2B	187125947	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.599000	0.82757	2.941000	0.99782	0.655000	0.94253	CGG		0.443	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593	Missense_Mutation	16	59	0	0	0	0	16	59				
CLDN16	10686	broad.mit.edu	37	3	190122651	190122651	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190122651C>T	ENST00000264734.2	+	3	776	c.528C>T	c.(526-528)ctC>ctT	p.L176L	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	176					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGAAATTCCTCCCTGATGAGC	0.502																																						uc003fsi.2		NA																	0				ovary(1)	1						c.(526-528)CTC>CTT		claudin 16							190.0	174.0	179.0					3																	190122651		2203	4300	6503	SO:0001819	synonymous_variant	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190122651C>T	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.528C>T	3.37:g.190122651C>T						CLDN16_uc010hze.2_Intron	p.L176L	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	3	596	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		176			Cytoplasmic (Potential).			Silent	SNP	ENST00000264734.2	37	c.528C>T	CCDS3296.1																																																																																				0.502	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		19	60	0	0	0	0	19	60				
IL1RAP	3556	broad.mit.edu	37	3	190363561	190363562	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190363561_190363562CC>TT	ENST00000412504.2	+	10	1527_1528	c.1275_1276CC>TT	c.(1273-1278)ctCCgt>ctTTgt	p.R426C	IL1RAP_ENST00000439062.1_Missense_Mutation_p.R426C|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R426C|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R426C|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R426C|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R426C			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	426	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TACTGACCCTCCGTGGAGTTTT	0.406																																						uc003fsm.1		NA																	0				ovary(1)	1						c.(1273-1278)CTCCGT>CTTTGT		interleukin 1 receptor accessory protein isoform																																				SO:0001583	missense	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190363561_190363562CC>TT	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	Exception_encountered	3.37:g.190363561_190363562delinsTT	ENSP00000412053:p.Arg426Cys					IL1RAP_uc010hzg.1_Missense_Mutation_p.R426C|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.R426C|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.R426C	p.R426C	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	11	1481_1482	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		426			Cytoplasmic (Potential).|TIR.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	DNP	ENST00000412504.2	37	c.1275_1276CC>TT	CCDS3298.1																																																																																				0.406	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			29	49	0	0	0	0	29	49				
OSTN	344901	broad.mit.edu	37	3	190930354	190930354	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190930354C>T	ENST00000339051.1	+	1	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OSTN_ENST00000445281.1_Silent_p.F11F|OSTN-AS1_ENST00000430375.1_RNA	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	11					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		GTGCACATTTCATCCTGGCTG	0.398																																						uc011bsn.1		NA																	0				pancreas(1)|skin(1)	2						c.(31-33)TTC>TTT		osteocrin precursor							138.0	118.0	125.0					3																	190930354		2203	4300	6503	SO:0001819	synonymous_variant	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190930354C>T	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.33C>T	3.37:g.190930354C>T							p.F11F	NM_198184	NP_937827	P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	1	33	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		11					A1A4U3	Silent	SNP	ENST00000339051.1	37	c.33C>T	CCDS3299.1																																																																																				0.398	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		17	21	0	0	0	0	17	21				
HRASLS	57110	broad.mit.edu	37	3	192980899	192980899	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:192980899C>T	ENST00000602513.1	+	3	689	c.280C>T	c.(280-282)Cct>Tct	p.P94S	HRASLS_ENST00000264735.2_Missense_Mutation_p.P199S			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	94					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		CCCCCCTCTCCCTGTGGAAGA	0.428																																						uc003fta.2		NA																	0					0						c.(280-282)CCT>TCT		HRAS-like suppressor							132.0	134.0	133.0					3																	192980899		2203	4300	6503	SO:0001583	missense	57110							g.chr3:192980899C>T	AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.280C>T	3.37:g.192980899C>T	ENSP00000473258:p.Pro94Ser						p.P94S	NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)	3	685	+	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		94					D2KX19	Missense_Mutation	SNP	ENST00000602513.1	37	c.280C>T		.	.	.	.	.	.	.	.	.	.	C	19.77	3.888874	0.72524	.	.	ENSG00000127252	ENST00000264735	T	0.55234	0.53	6.17	6.17	0.99709	NC (1);	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	L	0.55213	1.73	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.67409	-0.5678	10	0.52906	T	0.07	-14.2832	19.8676	0.96824	0.0:1.0:0.0:0.0	.	94	Q9HDD0	HRSL1_HUMAN	S	94	ENSP00000264735:P94S	ENSP00000264735:P94S	P	+	1	0	HRASLS	194463593	1.000000	0.71417	0.996000	0.52242	0.235000	0.25334	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CCT		0.428	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				21	90	0	0	0	0	21	90				
ATP13A4	84239	broad.mit.edu	37	3	193174805	193174805	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:193174805A>T	ENST00000342695.4	-	16	2221	c.1899T>A	c.(1897-1899)ttT>ttA	p.F633L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.F614L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	633						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAGGTTGGCAAAAGCTGGCCA	0.453																																						uc003ftd.2		NA																	0				ovary(2)	2						c.(1897-1899)TTT>TTA		ATPase type 13A4							72.0	62.0	65.0					3																	193174805		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193174805A>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1899T>A	3.37:g.193174805A>T	ENSP00000339182:p.Phe633Leu					ATP13A4_uc003fte.1_Missense_Mutation_p.F633L|ATP13A4_uc011bsr.1_Missense_Mutation_p.F104L|ATP13A4_uc010hzi.2_RNA	p.F633L	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	16	2007	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		633			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.1899T>A	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	A	11.25	1.582773	0.28268	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.68479	-0.33;-0.33	6.08	3.68	0.42216	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.077280	0.53938	D	0.000042	T	0.39784	0.1091	N	0.04805	-0.155	0.80722	D	1	B;B;B	0.32620	0.378;0.206;0.378	B;B;B	0.40038	0.317;0.212;0.317	T	0.43718	-0.9374	10	0.02654	T	1	-26.4448	4.5642	0.12175	0.5988:0.0:0.2671:0.1341	.	614;633;633	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	L	614;633	ENSP00000376238:F614L;ENSP00000339182:F633L	ENSP00000339182:F633L	F	-	3	2	ATP13A4	194657499	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.418000	0.21230	1.127000	0.42034	0.533000	0.62120	TTT		0.453	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		8	23	0	0	0	0	8	23				
LSG1	55341	broad.mit.edu	37	3	194390864	194390864	+	Splice_Site	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:194390864A>G	ENST00000265245.5	-	2	414	c.100T>C	c.(100-102)Ttg>Ctg	p.L34L	AC046143.1_ENST00000408791.1_RNA|LSG1_ENST00000480853.1_5'UTR	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	34					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTTGTGTGCAACTATGAAAAA	0.433																																						uc003fui.2		NA																	0					0						c.(100-102)TTG>CTG		large subunit GTPase 1							96.0	97.0	96.0					3																	194390864		2203	4300	6503	SO:0001630	splice_region_variant	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194390864A>G		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.100-1T>C	3.37:g.194390864A>G							p.L34L	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	2	415	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		34					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Silent	SNP	ENST00000265245.5	37	c.100T>C	CCDS33922.1																																																																																				0.433	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385	Silent	22	64	0	0	0	0	22	64				
MUC4	4585	broad.mit.edu	37	3	195516890	195516890	+	Missense_Mutation	SNP	G	G	A	rs200165340	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:195516890G>A	ENST00000463781.3	-	2	2020	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S	MUC4_ENST00000475231.1_Missense_Mutation_p.P521S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	526					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTAGATGGATTTCCTGTG	0.532																																						uc011bto.1		NA																	0					0						c.(1561-1563)CCA>TCA		mucin 4 isoform a							119.0	111.0	113.0					3																	195516890		1967	4157	6124	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516890G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1561C>T	3.37:g.195516890G>A	ENSP00000417498:p.Pro521Ser					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.P403S	p.P521S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2021	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	526					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.1561C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	0.891	-0.725559	0.03158	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.57107	0.42;0.44	1.2	-2.41	0.06562	.	9.315480	0.00481	U	0.000120	T	0.24624	0.0597	N	0.11927	0.2	0.09310	N	1	P;B	0.42584	0.784;0.37	B;B	0.25884	0.064;0.032	T	0.17684	-1.0361	10	0.15499	T	0.54	.	5.9012	0.18967	0.0:0.0:0.3558:0.6442	.	521;526	E7ESK3;Q99102	.;MUC4_HUMAN	S	521;521;495	ENSP00000417498:P521S;ENSP00000420243:P521S	ENSP00000376209:P495S	P	-	1	0	MUC4	197001285	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.335000	0.01106	-0.923000	0.03785	-0.365000	0.07479	CCA		0.532	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		25	79	0	0	0	0	25	79				
KIAA0226	9711	broad.mit.edu	37	3	197427593	197427593	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:197427593G>A	ENST00000296343.5	-	7	1151	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	KIAA0226_ENST00000389665.5_Silent_p.L384L|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000449205.1_Silent_p.L384L|KIAA0226_ENST00000273582.5_Silent_p.L324L	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	384	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGGACCTGCGGAGGACACTGG	0.582																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2		NA																	0					0						c.(1150-1152)CTC>CTT		hypothetical protein LOC9711 isoform 2.							65.0	70.0	69.0					3																	197427593		2045	4190	6235	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197427593G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1152C>T	3.37:g.197427593G>A						KIAA0226_uc003fyd.3_Silent_p.L324L|KIAA0226_uc003fye.1_Silent_p.L91L|KIAA0226_uc003fyf.2_Silent_p.L217L|KIAA0226_uc003fyg.2_Silent_p.L377L	p.L384L	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	7	1335	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		384			Ser-rich.		Q96CK5	Silent	SNP	ENST00000296343.5	37	c.1152C>T	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.063|9.063	0.994924|0.994924	0.19043|0.19043	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000415452	.|.	.|.	.|.	5.85|5.85	-0.987|-0.987	0.10249|0.10249	.|.	.|.	.|.	.|.	.|.	T|T	0.51007|0.51007	0.1649|0.1649	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.40887|0.40887	-0.9539|-0.9539	4|4	.|.	.|.	.|.	.|.	6.1536|6.1536	0.20326|0.20326	0.334:0.4129:0.2531:0.0|0.334:0.4129:0.2531:0.0	.|.	.|.	.|.	.|.	S|F	363|143	.|.	.|.	P|S	-|-	1|2	0|0	KIAA0226|KIAA0226	198911990|198911990	0.982000|0.982000	0.34865|0.34865	0.995000|0.995000	0.50966|0.50966	0.978000|0.978000	0.69477|0.69477	0.185000|0.185000	0.16958|0.16958	-0.086000|-0.086000	0.12550|0.12550	-0.302000|-0.302000	0.09304|0.09304	CCG|TCC		0.582	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		13	59	0	0	0	0	13	59				
KIAA0226	9711	broad.mit.edu	37	3	197432014	197432014	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:197432014G>A	ENST00000296343.5	-	3	251	c.252C>T	c.(250-252)ttC>ttT	p.F84F	KIAA0226_ENST00000389665.5_Silent_p.F84F|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.F84F|KIAA0226_ENST00000273582.5_Silent_p.F24F	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	84	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGTCTTTCACGAACTGCCAGT	0.562																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2		NA																	0					0						c.(250-252)TTC>TTT		hypothetical protein LOC9711 isoform 2.							57.0	57.0	57.0					3																	197432014		2017	4185	6202	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197432014G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.252C>T	3.37:g.197432014G>A						KIAA0226_uc003fyd.3_Silent_p.F24F|KIAA0226_uc003fyf.2_5'UTR|KIAA0226_uc003fyg.2_Silent_p.F77F	p.F84F	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	3	435	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		84			RUN.		Q96CK5	Silent	SNP	ENST00000296343.5	37	c.252C>T	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.508889	0.27036	.	.	ENSG00000145016	ENST00000413360	.	.	.	5.63	0.268	0.15626	.	.	.	.	.	T	0.58018	0.2093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51593	-0.8686	4	.	.	.	.	10.4224	0.44359	0.6693:0.0:0.3307:0.0	.	.	.	.	C	63	.	.	R	-	1	0	KIAA0226	198916411	1.000000	0.71417	0.991000	0.47740	0.966000	0.64601	2.530000	0.45641	-0.125000	0.11703	-0.311000	0.09066	CGT		0.562	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		6	31	0	0	0	0	6	31				
DGKQ	1609	broad.mit.edu	37	4	961572	961572	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:961572G>A	ENST00000273814.3	-	7	903	c.830C>T	c.(829-831)gCc>gTc	p.A277V	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	277					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTCCCGTCGGCGCCGTCGCC	0.746																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.2		NA																	0				kidney(1)	1						c.(829-831)GCC>GTC		diacylglycerol kinase, theta							16.0	20.0	19.0					4																	961572		2178	4290	6468	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:961572G>A	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.830C>T	4.37:g.961572G>A	ENSP00000273814:p.Ala277Val					DGKQ_uc010ibn.2_Missense_Mutation_p.A277V	p.A277V	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	904	-			277					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.830C>T	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.899|6.899	0.535426|0.535426	0.13188|0.13188	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000273814|ENST00000509465	T|.	0.80214|.	-1.35|.	3.74|3.74	-7.48|-7.48	0.01360|0.01360	.|.	3.656630|.	0.00447|.	N|.	0.000093|.	T|T	0.15998|0.15998	0.0385|0.0385	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.23726|0.23726	-1.0180|-1.0180	10|5	0.25106|.	T|.	0.35|.	.|.	6.4353|6.4353	0.21819|0.21819	0.2112:0.0:0.5368:0.2521|0.2112:0.0:0.5368:0.2521	.|.	277;277|.	E9KL49;P52824|.	.;DGKQ_HUMAN|.	V|S	277|224	ENSP00000273814:A277V|.	ENSP00000273814:A277V|.	A|P	-|-	2|1	0|0	DGKQ|DGKQ	951572|951572	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.499000|-1.499000	0.02285|0.02285	-2.056000|-2.056000	0.00898|0.00898	-0.318000|-0.318000	0.08688|0.08688	GCC|CCG		0.746	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			3	11	0	0	0	0	3	11				
HTT	3064	broad.mit.edu	37	4	3230704	3230704	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:3230704C>T	ENST00000355072.5	+	59	8222	c.8077C>T	c.(8077-8079)Ccg>Tcg	p.P2693S	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2693					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAGGAGGACCCCGGCCATCCT	0.597																																						uc011bvq.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(8083-8085)CCG>TCG		huntingtin							80.0	85.0	83.0					4																	3230704		2162	4246	6408	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3230704C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8077C>T	4.37:g.3230704C>T	ENSP00000347184:p.Pro2693Ser						p.P2695S	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	60	8228	+		all_epithelial(65;0.18)	2693					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.8083C>T	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300068	0.60195	.	.	ENSG00000197386	ENST00000355072	T	0.07021	3.23	5.03	5.03	0.67393	.	0.059395	0.64402	N	0.000001	T	0.25158	0.0611	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00491	-1.1708	10	0.48119	T	0.1	.	18.3626	0.90380	0.0:1.0:0.0:0.0	.	2693	P42858	HD_HUMAN	S	2693	ENSP00000347184:P2693S	ENSP00000347184:P2693S	P	+	1	0	HTT	3200502	1.000000	0.71417	0.869000	0.34112	0.055000	0.15305	7.469000	0.80959	2.350000	0.79820	0.563000	0.77884	CCG		0.597	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		10	18	0	0	0	0	10	18				
DRD5	1816	broad.mit.edu	37	4	9784209	9784209	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:9784209G>A	ENST00000304374.2	+	1	952	c.556G>A	c.(556-558)Gcc>Acc	p.A186T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	186					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGACCAGGCGGCCTCTTGGGG	0.617																																						uc003gmb.3		NA																	0				skin(1)	1						c.(556-558)GCC>ACC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						38.0	39.0	38.0					4																	9784209		2202	4298	6500	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784209G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.556G>A	4.37:g.9784209G>A	ENSP00000306129:p.Ala186Thr						p.A186T	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	952	+			186			Extracellular (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.556G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	0.021	-1.430837	0.01117	.	.	ENSG00000169676	ENST00000304374	T	0.71934	-0.61	4.53	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.604497	0.17762	N	0.162853	T	0.41811	0.1175	N	0.05592	-0.015	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19353	-1.0308	10	0.11794	T	0.64	.	4.8466	0.13516	0.2585:0.0:0.5824:0.1592	.	186	P21918	DRD5_HUMAN	T	186	ENSP00000306129:A186T	ENSP00000306129:A186T	A	+	1	0	DRD5	9393307	0.000000	0.05858	0.004000	0.12327	0.085000	0.17905	0.615000	0.24329	0.183000	0.20059	0.305000	0.20034	GCC		0.617	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			13	40	0	0	0	0	13	40				
CC2D2A	57545	broad.mit.edu	37	4	15572023	15572023	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:15572023T>A	ENST00000503292.1	+	29	3678	c.3498T>A	c.(3496-3498)gaT>gaA	p.D1166E	CC2D2A_ENST00000424120.1_Missense_Mutation_p.D1166E|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1166E|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1117E	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1166	C2.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TCCTTTAGGATGACCGTGAAA	0.403																																						uc010idv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(3496-3498)GAT>GAA		coiled-coil and C2 domain containing 2A isoform							67.0	62.0	63.0					4																	15572023		1865	4112	5977	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15572023T>A	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3498T>A	4.37:g.15572023T>A	ENSP00000421809:p.Asp1166Glu					CC2D2A_uc003gnx.2_Missense_Mutation_p.D1117E|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	p.D1166E	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			29	3743	+			1166			C2.		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.3498T>A	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238678	0.79800	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.88	5.65	1.88	0.25563	C2 calcium-dependent membrane targeting (1);	0.114744	0.64402	D	0.000014	D	0.88411	0.6429	M	0.74881	2.28	0.80722	D	1	D;P	0.62365	0.991;0.84	P;P	0.59424	0.857;0.636	D	0.84609	0.0677	10	0.34782	T	0.22	.	9.2596	0.37603	0.0:0.2729:0.0:0.7271	.	1166;1117	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	E	1166;1166;1117;1117;1166;1117	ENSP00000403465:D1166E;ENSP00000398391:D1166E;ENSP00000421809:D1166E;ENSP00000374303:D1117E	ENSP00000374303:D1117E	D	+	3	2	CC2D2A	15181121	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.453000	0.21811	0.102000	0.17638	0.459000	0.35465	GAT		0.403	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		3	10	0	0	0	0	3	10				
PPARGC1A	10891	broad.mit.edu	37	4	23815563	23815563	+	Missense_Mutation	SNP	C	C	T	rs374643892		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:23815563C>T	ENST00000264867.2	-	8	1662	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	515	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CTTTCATCTTCGCTGTCATCA	0.413																																					Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2		NA																	0				ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(1543-1545)GAA>AAA		peroxisome proliferator-activated receptor		C	LYS/GLU	0,4406		0,0,2203	151.0	143.0	146.0		1543	6.2	1.0	4		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPARGC1A	NM_013261.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	515/799	23815563	1,13005	2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815563C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1543G>A	4.37:g.23815563C>T	ENSP00000264867:p.Glu515Lys					PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	p.E515K	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			8	1663	-		Breast(46;0.0503)	515					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1543G>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981090	0.92982	0.0	1.16E-4	ENSG00000109819	ENST00000264867	T	0.28069	1.63	6.16	6.16	0.99307	.	0.263447	0.44285	D	0.000470	T	0.57184	0.2036	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.45308	-0.9270	10	0.13470	T	0.59	-10.3524	20.8598	0.99761	0.0:1.0:0.0:0.0	.	515	Q9UBK2	PRGC1_HUMAN	K	515	ENSP00000264867:E515K	ENSP00000264867:E515K	E	-	1	0	PPARGC1A	23424661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.112000	0.77086	2.937000	0.99478	0.650000	0.86243	GAA		0.413	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		21	46	0	0	0	0	21	46				
SLC34A2	10568	broad.mit.edu	37	4	25665876	25665876	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:25665876G>A	ENST00000382051.3	+	4	353	c.303G>A	c.(301-303)ttG>ttA	p.L101L	SLC34A2_ENST00000504570.1_Silent_p.L100L|SLC34A2_ENST00000503434.1_Silent_p.L100L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	101					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTGGGAGATTGATTTTACTTC	0.478			T	ROS1	NSCLC																																	uc003grr.2		NA		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					0				skin(3)|ovary(1)|kidney(1)	5						c.(301-303)TTG>TTA		solute carrier family 34 (sodium phosphate),							159.0	154.0	156.0					4																	25665876		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25665876G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.303G>A	4.37:g.25665876G>A						SLC34A2_uc003grs.2_Silent_p.L100L|SLC34A2_uc010iev.2_Silent_p.L100L	p.L101L	NM_006424	NP_006415	O95436	NPT2B_HUMAN			4	384	+		Breast(46;0.0503)	101			Helical; Name=M1; (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.303G>A	CCDS3435.1																																																																																				0.478	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		14	60	0	0	0	0	14	60				
CCKAR	886	broad.mit.edu	37	4	26483501	26483501	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:26483501C>T	ENST00000295589.3	-	5	1240	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	349					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AATGGGGGTTCCTGAGAGGCG	0.597																																						uc003gse.1		NA																	0				lung(3)|pancreas(1)	4						c.(1045-1047)GGA>GAA		cholecystokinin A receptor	Ceruletide(DB00403)						114.0	106.0	109.0					4																	26483501		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483501C>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1046G>A	4.37:g.26483501C>T	ENSP00000295589:p.Gly349Glu						p.G349E	NM_000730	NP_000721	P32238	CCKAR_HUMAN			5	1199	-		Breast(46;0.0503)	349			Extracellular (Potential).		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.1046G>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918594	0.92249	.	.	ENSG00000163394	ENST00000295589	T	0.70399	-0.48	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80082	0.4558	M	0.62209	1.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74372	-0.3687	10	0.02654	T	1	.	18.9222	0.92529	0.0:1.0:0.0:0.0	.	349	P32238	CCKAR_HUMAN	E	349	ENSP00000295589:G349E	ENSP00000295589:G349E	G	-	2	0	CCKAR	26092599	1.000000	0.71417	0.964000	0.40570	0.798000	0.45092	7.818000	0.86416	2.473000	0.83533	0.563000	0.77884	GGA		0.597	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			19	61	0	0	0	0	19	61				
TBC1D1	23216	broad.mit.edu	37	4	38126639	38126639	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:38126639G>A	ENST00000261439.4	+	18	3374	c.3019G>A	c.(3019-3021)Gga>Aga	p.G1007R	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1007					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAGTCTGTTGGGAAGCCATAA	0.393																																						uc003gtb.2		NA																	0				ovary(1)	1						c.(3019-3021)GGA>AGA		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							137.0	132.0	134.0					4																	38126639		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38126639G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3019G>A	4.37:g.38126639G>A	ENSP00000261439:p.Gly1007Arg					TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Missense_Mutation_p.G794R|TBC1D1_uc003gtd.2_Missense_Mutation_p.G19R	p.G1007R	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			18	3362	+			1007					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.3019G>A	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.958967|4.958967	0.92726|0.92726	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000261439;ENST00000454732	.|T	.|0.10668	.|2.85	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Rab-GAP/TBC domain (3);	0.000000|0.000000	0.64402|0.64402	D|D	0.000011|0.000011	T|T	0.15998|0.15998	0.0385|0.0385	N|N	0.05306|0.05306	-0.075|-0.075	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.998	T|T	0.44081|0.44081	-0.9351|-0.9351	6|10	.|0.22109	.|T	.|0.4	-23.2289|-23.2289	19.4276|19.4276	0.94749|0.94749	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|739;1007	.|Q6PJJ8;Q86TI0	.|.;TBCD1_HUMAN	E|R	694|1007;271	.|ENSP00000261439:G1007R	.|ENSP00000261439:G1007R	G|G	+|+	2|1	0|0	TBC1D1|TBC1D1	37803034|37803034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.259000|5.259000	0.65485|0.65485	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.393	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		11	54	0	0	0	0	11	54				
CHRNA9	55584	broad.mit.edu	37	4	40351346	40351346	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:40351346G>T	ENST00000310169.2	+	4	952	c.813G>T	c.(811-813)ctG>ctT	p.L271L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	271					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AGGTCTCCCTGGGAGTGACCA	0.507																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	uc003gva.1		NA																	0				breast(3)|skin(3)|central_nervous_system(1)	7						c.(811-813)CTG>CTT		cholinergic receptor, nicotinic, alpha 9	Nicotine(DB00184)						140.0	150.0	146.0					4																	40351346		2203	4300	6503	SO:0001819	synonymous_variant	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351346G>T	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.813G>T	4.37:g.40351346G>T							p.L271L	NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN			4	829	+			271			Helical; (Potential).		Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	c.813G>T	CCDS3459.1																																																																																				0.507	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			43	163	1	0	1.52e-26	1.59e-26	43	163				
KCTD8	386617	broad.mit.edu	37	4	44176945	44176945	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:44176945C>T	ENST00000360029.3	-	2	1567	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	428					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CACAGACTTTCTTTTTGGACA	0.418										HNSCC(17;0.042)																												uc003gwu.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1282-1284)AAG>AAA		potassium channel tetramerisation domain							200.0	208.0	205.0					4																	44176945		2203	4300	6503	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44176945C>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1284G>A	4.37:g.44176945C>T		HNSCC(17;0.042)					p.K428K	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1568	-			428					A2RU39	Silent	SNP	ENST00000360029.3	37	c.1284G>A	CCDS3467.1																																																																																				0.418	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			43	183	0	0	0	0	43	183				
FRYL	285527	broad.mit.edu	37	4	48542476	48542476	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:48542476G>A	ENST00000503238.1	-	43	6188	c.6189C>T	c.(6187-6189)ttC>ttT	p.F2063F	FRYL_ENST00000537810.1_Silent_p.F2063F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.F2063F|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	2063					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AACCCTTAAGGAAGAGCTGCT	0.398																																						uc003gyh.1		NA																	0				skin(1)	1						c.(6187-6189)TTC>TTT		furry-like							128.0	116.0	120.0					4																	48542476		1875	4104	5979	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48542476G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6189C>T	4.37:g.48542476G>A						FRYL_uc003gyg.1_Silent_p.F759F|FRYL_uc003gyi.1_Silent_p.F951F|FRYL_uc003gyj.1_Silent_p.F358F	p.F2063F	NM_015030	NP_055845	O94915	FRYL_HUMAN			46	6794	-			2063					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.6189C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	g	0.048	-1.260198	0.01445	.	.	ENSG00000075539	ENST00000514617	.	.	.	6.16	5.33	0.75918	.	.	.	.	.	T	0.69886	0.3161	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69247	-0.5195	4	.	.	.	.	13.6435	0.62267	0.1275:0.0:0.8725:0.0	.	.	.	.	S	933	.	.	P	-	1	0	FRYL	48237233	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	4.015000	0.57152	1.639000	0.50556	-0.127000	0.14921	CCT		0.398	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			21	89	0	0	0	0	21	89				
SPATA18	132671	broad.mit.edu	37	4	52938270	52938270	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:52938270C>A	ENST00000295213.4	+	6	1080	c.706C>A	c.(706-708)Ctg>Atg	p.L236M	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Missense_Mutation_p.L204M	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	236					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCTCCGAAACCTGAAGGAGGA	0.483																																						uc003gzl.2		NA																	0				ovary(2)|skin(2)	4						c.(706-708)CTG>ATG		spermatogenesis associated 18 homolog							92.0	85.0	87.0					4																	52938270		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52938270C>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.706C>A	4.37:g.52938270C>A	ENSP00000295213:p.Leu236Met					SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.L204M|SPATA18_uc003gzk.1_Missense_Mutation_p.L236M	p.L236M	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		6	984	+			236			Potential.		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.706C>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517616	0.44763	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.57273	0.41;1.44	4.97	4.13	0.48395	.	0.065455	0.64402	D	0.000006	T	0.70482	0.3229	M	0.79475	2.455	0.47949	D	0.99955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.73610	-0.3928	10	0.72032	D	0.01	-7.5437	10.8739	0.46900	0.0:0.9086:0.0:0.0914	.	204;236;236	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	M	236;204	ENSP00000295213:L236M;ENSP00000415309:L204M	ENSP00000295213:L236M	L	+	1	2	SPATA18	52633027	0.691000	0.27709	0.633000	0.29310	0.014000	0.08584	1.150000	0.31639	1.301000	0.44836	0.650000	0.86243	CTG		0.483	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		13	68	1	0	1.05e-09	1.08e-09	13	68				
FIP1L1	81608	broad.mit.edu	37	4	54294260	54294260	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:54294260C>T	ENST00000337488.6	+	13	1278	c.1084C>T	c.(1084-1086)Cca>Tca	p.P362S	FIP1L1_ENST00000507922.1_Missense_Mutation_p.P347S|FIP1L1_ENST00000358575.5_Missense_Mutation_p.P347S|FIP1L1_ENST00000306932.6_Missense_Mutation_p.P288S|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	362	Pro-rich.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTTTTCCCTCCAGGAGctcc	0.468			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	uc003gzy.2		NA		Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				ovary(1)|skin(1)	2						c.(1084-1086)CCA>TCA		FIP1 like 1 isoform 1							105.0	102.0	103.0					4																	54294260		2203	4300	6503	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54294260C>T	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1084C>T	4.37:g.54294260C>T	ENSP00000336752:p.Pro362Ser					PDGFRA_uc003haa.2_Intron|FIP1L1_uc003gzx.3_Missense_Mutation_p.P347S|FIP1L1_uc011bzt.1_Missense_Mutation_p.P326S|FIP1L1_uc011bzu.1_Missense_Mutation_p.P347S|FIP1L1_uc003gzz.2_Missense_Mutation_p.P288S|FIP1L1_uc003hab.2_Missense_Mutation_p.P327S|FIP1L1_uc003hac.2_Missense_Mutation_p.P107S|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_5'UTR|FIP1L1_uc003hae.2_5'UTR	p.P362S	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		13	1270	+			362			Pro-rich.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.1084C>T	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257110	0.80246	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000504094	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000002	D	0.86855	0.6033	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D;D	0.67145	0.996;0.996;0.993;0.996;0.993;0.996	D;D;D;D;D;D	0.75484	0.986;0.986;0.968;0.986;0.968;0.986	D	0.83363	0.0003	10	0.24483	T	0.36	-9.8954	19.3329	0.94299	0.0:1.0:0.0:0.0	.	347;130;347;288;362;347	G3XAD6;B4DTW7;B4DIR3;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;.;.;FIP1_HUMAN;.	S	362;347;347;288;10	ENSP00000336752:P362S;ENSP00000351383:P347S;ENSP00000425456:P347S;ENSP00000302993:P288S;ENSP00000421691:P10S	ENSP00000302993:P288S	P	+	1	0	FIP1L1	53989017	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.190000	0.65104	2.629000	0.89072	0.563000	0.77884	CCA		0.468	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		4	44	0	0	0	0	4	44				
KIAA1211	57482	broad.mit.edu	37	4	57181222	57181223	+	Missense_Mutation	DNP	GG	GG	AA	rs570190221	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57181222_57181223GG>AA	ENST00000504228.1	+	6	1659_1660	c.1554_1555GG>AA	c.(1552-1557)aaGGtg>aaAAtg	p.V519M	KIAA1211_ENST00000264229.6_Missense_Mutation_p.V519M|KIAA1211_ENST00000541073.1_Missense_Mutation_p.V512M			Q6ZU35	K1211_HUMAN	KIAA1211	519	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGCCGCAAGGTGGAGGAGCT	0.639																																						uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(1552-1557)AAGGTG>AAAATG		hypothetical protein LOC57482																																				SO:0001583	missense	57482							g.chr4:57181222_57181223GG>AA	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	Exception_encountered	4.37:g.57181222_57181223delinsAA	ENSP00000423366:p.Val519Met					KIAA1211_uc010iha.2_Missense_Mutation_p.V512M|KIAA1211_uc011bzz.1_Missense_Mutation_p.V429M|KIAA1211_uc003hbm.1_Missense_Mutation_p.V405M	p.V519M	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	1945_1946	+	Glioma(25;0.08)|all_neural(26;0.101)		519			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	DNP	ENST00000504228.1	37	c.1554_1555GG>AA	CCDS43230.1																																																																																				0.639	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		5	27	0	0	0	0	5	27				
ARL9	132946	broad.mit.edu	37	4	57389990	57389990	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57389990C>T	ENST00000360096.2	+	4	634	c.320C>T	c.(319-321)aCc>aTc	p.T107I		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	171					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					ATACCCTCCACCATGCAAGAT	0.488																																						uc003hby.1		NA																	0					0						c.(319-321)ACC>ATC		ADP-ribosylation factor-like 9							111.0	107.0	108.0					4																	57389990		2026	4201	6227	SO:0001583	missense	132946						GTP binding	g.chr4:57389990C>T	AY439003	CCDS59474.1	4q12	2014-05-09				ENSG00000196503		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	23592	protein-coding gene	gene with protein product		612405					Standard	NM_206919		Approved		uc003hby.1	Q6T311		ENST00000360096.2:c.320C>T	4.37:g.57389990C>T	ENSP00000353210:p.Thr107Ile						p.T107I	NM_206919	NP_996802	Q6T311	ARL9_HUMAN			4	768	+	Glioma(25;0.08)|all_neural(26;0.101)		171						Missense_Mutation	SNP	ENST00000360096.2	37	c.320C>T	CCDS59474.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419751	0.42918	.	.	ENSG00000196503	ENST00000360096	.	.	.	5.14	-9.77	0.00500	.	0.478178	0.25523	N	0.030099	T	0.15869	0.0382	N	0.11560	0.145	0.27239	N	0.959194	B	0.06786	0.001	B	0.09377	0.004	T	0.04495	-1.0947	8	0.56958	D	0.05	0.953	8.7288	0.34485	0.0:0.1328:0.3963:0.4709	.	171	Q6T311	ARL9_HUMAN	I	171	.	ENSP00000353210:T171I	T	+	2	0	ARL9	57084747	0.023000	0.18921	0.037000	0.18230	0.991000	0.79684	-0.061000	0.11693	-1.341000	0.02225	0.557000	0.71058	ACC		0.488	ARL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467724.1	NM_206919		8	50	0	0	0	0	8	50				
NOA1	84273	broad.mit.edu	37	4	57842906	57842906	+	Silent	SNP	G	G	A	rs201444650		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57842906G>A	ENST00000264230.4	-	1	2083	c.846C>T	c.(844-846)ggC>ggT	p.G282G	POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000441246.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	282	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GCCCTTGGTGGCCAGGGGCCA	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		11669	0.0		0.001	False		,,,				2504	0.0					uc003hck.2		NA																	0				ovary(1)|breast(1)	2						c.(844-846)GGC>GGT		hypothetical protein LOC84273							21.0	25.0	23.0					4																	57842906		2195	4280	6475	SO:0001819	synonymous_variant	84273						GTP binding	g.chr4:57842906G>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.846C>T	4.37:g.57842906G>A						POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	p.G282G	NM_032313	NP_115689	Q8NC60	CD014_HUMAN			1	921	-	Glioma(25;0.08)|all_neural(26;0.181)		282					Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	c.846C>T	CCDS3510.1																																																																																				0.697	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		5	38	0	0	0	0	5	38				
UGT2B10	7365	broad.mit.edu	37	4	69682215	69682215	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:69682215G>C	ENST00000265403.7	+	1	505	c.478G>C	c.(478-480)Gct>Cct	p.A160P	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	160					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAGCTGCTGGCTGAGCTATT	0.393																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2		NA																	0				skin(3)|ovary(2)	5						c.(478-480)GCT>CCT		UDP glucuronosyltransferase 2B10 isoform 1							138.0	134.0	136.0					4																	69682215		2202	4297	6499	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69682215G>C	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.478G>C	4.37:g.69682215G>C	ENSP00000265403:p.Ala160Pro					UGT2B10_uc011cam.1_Intron	p.A160P	NM_001075	NP_001066	P36537	UDB10_HUMAN			1	503	+			160					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.478G>C		.	.	.	.	.	.	.	.	.	.	g	14.78	2.637239	0.47049	.	.	ENSG00000109181	ENST00000265403	T	0.74737	-0.87	2.63	1.75	0.24633	.	0.000000	0.64402	U	0.000009	D	0.84759	0.5543	M	0.92317	3.295	0.80722	D	1	P	0.50369	0.934	P	0.57244	0.816	D	0.84247	0.0475	10	0.87932	D	0	.	8.389	0.32518	0.0:0.0:0.766:0.234	.	160	P36537	UDB10_HUMAN	P	160	ENSP00000265403:A160P	ENSP00000265403:A160P	A	+	1	0	UGT2B10	69716804	1.000000	0.71417	0.319000	0.25293	0.016000	0.09150	5.152000	0.64882	0.283000	0.22279	0.184000	0.17185	GCT		0.393	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		47	112	0	0	0	0	47	112				
UGT2B10	7365	broad.mit.edu	37	4	69682395	69682395	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:69682395G>T	ENST00000265403.7	+	1	685	c.658G>T	c.(658-660)Gac>Tac	p.D220Y	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	220					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCTTTATTTTGACTTTTGGTT	0.308																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2		NA																	0				skin(3)|ovary(2)	5						c.(658-660)GAC>TAC		UDP glucuronosyltransferase 2B10 isoform 1							49.0	51.0	51.0					4																	69682395		2201	4294	6495	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69682395G>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.658G>T	4.37:g.69682395G>T	ENSP00000265403:p.Asp220Tyr					UGT2B10_uc011cam.1_Intron	p.D220Y	NM_001075	NP_001066	P36537	UDB10_HUMAN			1	683	+			220					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.658G>T		.	.	.	.	.	.	.	.	.	.	g	5.445	0.267246	0.10294	.	.	ENSG00000109181	ENST00000265403	T	0.63580	-0.05	2.63	1.77	0.24775	.	0.000000	0.64402	U	0.000005	T	0.63721	0.2535	M	0.78801	2.425	0.20489	N	0.999898	P	0.43662	0.814	P	0.47645	0.553	T	0.58064	-0.7702	10	0.66056	D	0.02	.	4.5536	0.12126	0.3234:0.0:0.6766:0.0	.	220	P36537	UDB10_HUMAN	Y	220	ENSP00000265403:D220Y	ENSP00000265403:D220Y	D	+	1	0	UGT2B10	69716984	0.605000	0.26941	0.675000	0.29917	0.048000	0.14542	1.509000	0.35780	0.314000	0.23086	0.184000	0.17185	GAC		0.308	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		14	65	1	0	1.05e-09	1.08e-09	14	65				
UGT2B7	7364	broad.mit.edu	37	4	69962535	69962535	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:69962535C>T	ENST00000508661.1	+	1	324	c.297C>T	c.(295-297)gaC>gaT	p.D99D	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Silent_p.D99D			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	99					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GATGGTCAGACCTTCCAAAAG	0.323																																						uc003heg.3		NA																	0				ovary(1)|skin(1)	2						c.(295-297)GAC>GAT		UDP glucuronosyltransferase 2B7 precursor							51.0	54.0	53.0					4																	69962535		2202	4299	6501	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962535C>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.297C>T	4.37:g.69962535C>T						UGT2B7_uc010ihq.2_Silent_p.D99D	p.D99D	NM_001074	NP_001065	P16662	UD2B7_HUMAN			1	343	+			99					B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.297C>T																																																																																					0.323	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		21	59	0	0	0	0	21	59				
UGT2A1	10941	broad.mit.edu	37	4	70462099	70462099	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:70462099C>T	ENST00000503640.1	-	3	920	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	UGT2A2_ENST00000457664.2_Splice_Site_p.E298K|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000502343.1_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	289					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTTCCATTTCCTGCATACAT	0.308																																						uc003hem.3		NA																	0				ovary(1)	1						c.(865-867)GAA>AAA		UDP glucuronosyltransferase 2 family,							65.0	63.0	64.0					4																	70462099		2203	4300	6503	SO:0001630	splice_region_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70462099C>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.865-1G>A	4.37:g.70462099C>T						UGT2A1_uc011caq.1_Intron|UGT2A1_uc010ihu.2_Intron|UGT2A1_uc010iht.2_Intron|UGT2A1_uc010ihs.2_Missense_Mutation_p.E290K	p.E289K	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			3	928	-			289			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.865G>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196445	0.94960	.	.	ENSG00000173610	ENST00000457664;ENST00000503640	T;T	0.65549	-0.16;-0.16	5.27	5.27	0.74061	.	0.110735	0.64402	D	0.000011	T	0.78960	0.4366	M	0.83953	2.67	.	.	.	D;D	0.67145	0.995;0.996	P;P	0.61533	0.824;0.89	D	0.83814	0.0243	9	0.87932	D	0	.	16.3867	0.83507	0.0:1.0:0.0:0.0	.	298;289	Q9Y4X1-2;Q9Y4X1	.;UD2A1_HUMAN	K	298;289	ENSP00000387888:E298K;ENSP00000424478:E289K	ENSP00000387888:E298K	E	-	1	0	UGT2A1	70496688	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	5.782000	0.68973	2.460000	0.83146	0.491000	0.48974	GAA		0.308	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	Missense_Mutation	9	54	0	0	0	0	9	54				
CSN1S1	1446	broad.mit.edu	37	4	70810588	70810588	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:70810588A>G	ENST00000246891.4	+	15	472	c.423A>G	c.(421-423)caA>caG	p.Q141Q	CSN1S1_ENST00000507763.1_Silent_p.Q132Q|CSN1S1_ENST00000444405.3_Silent_p.Q132Q|CSN1S1_ENST00000505782.1_Silent_p.Q125Q|CSN1S1_ENST00000507772.1_Silent_p.Q133Q	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	141						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						AGCTCAACCAACTTGCTGCCT	0.423																																						uc003hep.1		NA																	0					0						c.(421-423)CAA>CAG		casein alpha s1 isoform 1							357.0	348.0	351.0					4																	70810588		1953	4141	6094	SO:0001819	synonymous_variant	1446					extracellular region	protein binding|transporter activity	g.chr4:70810588A>G	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.423A>G	4.37:g.70810588A>G						CSN1S1_uc003heq.1_Silent_p.Q132Q|CSN1S1_uc003her.1_Silent_p.Q133Q	p.Q141Q	NM_001890	NP_001881	P47710	CASA1_HUMAN			15	472	+			141					A1A510|A1A511|E9PB60|Q4PNR5	Silent	SNP	ENST00000246891.4	37	c.423A>G	CCDS47067.1																																																																																				0.423	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			123	249	0	0	0	0	123	249				
PRR27	401137	broad.mit.edu	37	4	71020140	71020140	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:71020140G>A	ENST00000344526.5	+	1	237	c.48G>A	c.(46-48)agG>agA	p.R16R	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Silent_p.R16R	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		16						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTTTTGCAAGGAAGGTAAGTA	0.303																																						uc003hfa.3		NA																	0					0						c.(46-48)AGG>AGA		hypothetical protein LOC401137 precursor							93.0	91.0	92.0					4																	71020140		2203	4300	6503	SO:0001819	synonymous_variant	401137					extracellular region		g.chr4:71020140G>A																												ENST00000344526.5:c.48G>A	4.37:g.71020140G>A						C4orf40_uc003hfb.3_Silent_p.R16R	p.R16R	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN			2	121	+			16					A8MXP0|Q6MZR6	Silent	SNP	ENST00000344526.5	37	c.48G>A	CCDS3535.1																																																																																				0.303	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			7	35	0	0	0	0	7	35				
ODAM	54959	broad.mit.edu	37	4	71068544	71068544	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:71068544C>T	ENST00000396094.2	+	9	768	c.720C>T	c.(718-720)ttC>ttT	p.F240F		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	240					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAGGAGTTTTCATGCCCTCAA	0.408																																						uc003hfc.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(718-720)TTC>TTT		odontogenic ameloblast-associated protein							95.0	88.0	91.0					4																	71068544		2203	4300	6503	SO:0001819	synonymous_variant	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71068544C>T	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.720C>T	4.37:g.71068544C>T							p.F240F	NM_017855	NP_060325	A1E959	ODAM_HUMAN			9	737	+			240					Q8WWE5|Q9NWZ9	Silent	SNP	ENST00000396094.2	37	c.720C>T	CCDS3536.2																																																																																				0.408	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		13	34	0	0	0	0	13	34				
MUC7	4589	broad.mit.edu	37	4	71347144	71347144	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:71347144C>T	ENST00000304887.5	+	3	873	c.683C>T	c.(682-684)tCc>tTc	p.S228F	MUC7_ENST00000413702.1_Missense_Mutation_p.S228F|MUC7_ENST00000456088.1_Missense_Mutation_p.S228F	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	228	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCATCTTCCTCAGCTCCA	0.582																																						uc011cat.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(682-684)TCC>TTC		mucin 7, secreted precursor							423.0	355.0	378.0					4																	71347144		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347144C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.683C>T	4.37:g.71347144C>T	ENSP00000302021:p.Ser228Phe					MUC7_uc011cau.1_Missense_Mutation_p.S228F|MUC7_uc003hfj.2_Missense_Mutation_p.S228F|uc011cav.1_Intron	p.S228F	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	971	+			228			3.|Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.683C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	8.318	0.823584	0.16678	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52295	0.67;0.67;0.67	1.77	-1.32	0.09201	.	.	.	.	.	T	0.25121	0.0610	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.18241	-1.0343	8	.	.	.	-0.0504	3.1841	0.06594	0.2049:0.5078:0.0:0.2873	.	228	Q8TAX7	MUC7_HUMAN	F	228	ENSP00000407422:S228F;ENSP00000400585:S228F;ENSP00000302021:S228F	.	S	+	2	0	MUC7	71381733	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.849000	0.27723	-0.477000	0.06832	-1.613000	0.00800	TCC		0.582	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		29	103	0	0	0	0	29	103				
SLC4A4	8671	broad.mit.edu	37	4	72397869	72397869	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:72397869C>T	ENST00000264485.5	+	17	2374	c.2257C>T	c.(2257-2259)Cta>Tta	p.L753L	SLC4A4_ENST00000351898.6_Silent_p.L753L|SLC4A4_ENST00000340595.3_Silent_p.L709L|SLC4A4_ENST00000425175.1_Silent_p.L753L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	753	Interaction with CA4.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CACCCCAAAACTAATTGTGCC	0.383																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(2257-2259)CTA>TTA		solute carrier family 4, sodium bicarbonate							131.0	113.0	119.0					4																	72397869		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72397869C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2257C>T	4.37:g.72397869C>T						SLC4A4_uc010iic.2_Silent_p.L753L|SLC4A4_uc010iib.2_Silent_p.L753L|SLC4A4_uc003hfz.2_Silent_p.L753L|SLC4A4_uc003hgc.3_Silent_p.L709L|SLC4A4_uc010iid.2_5'UTR	p.L753L	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		17	2374	+			753			Interaction with CA4.|Extracellular (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.2257C>T	CCDS43236.1																																																																																				0.383	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		7	47	0	0	0	0	7	47				
SLC4A4	8671	broad.mit.edu	37	4	72425848	72425848	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:72425848C>T	ENST00000264485.5	+	23	3093	c.2976C>T	c.(2974-2976)taC>taT	p.Y992Y	SLC4A4_ENST00000351898.6_Silent_p.Y908Y|SLC4A4_ENST00000340595.3_Silent_p.Y948Y|SLC4A4_ENST00000425175.1_Silent_p.Y992Y	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	992					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GCATGGACTACCTCTTCTCCC	0.408																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(2974-2976)TAC>TAT		solute carrier family 4, sodium bicarbonate							139.0	131.0	134.0					4																	72425848		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72425848C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2976C>T	4.37:g.72425848C>T						SLC4A4_uc010iic.2_Silent_p.Y992Y|SLC4A4_uc010iib.2_Silent_p.Y908Y|SLC4A4_uc003hfz.2_Silent_p.Y992Y|SLC4A4_uc003hgc.3_Silent_p.Y948Y|SLC4A4_uc010iid.2_Silent_p.Y196Y	p.Y992Y	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		23	3093	+			992			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.2976C>T	CCDS43236.1																																																																																				0.408	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		29	106	0	0	0	0	29	106				
ALB	213	broad.mit.edu	37	4	74279194	74279194	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:74279194G>A	ENST00000503124.1	+	6	658	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	ALB_ENST00000415165.2_Missense_Mutation_p.E109K|ALB_ENST00000509063.1_Missense_Mutation_p.E301K|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.E186K|ALB_ENST00000295897.4_Missense_Mutation_p.E301K			Q8TES7	FBF1_HUMAN	albumin	0			R -> G (in dbSNP:rs2305913). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:18838552}.		apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAAACTGAAGGAATGCTGTGA	0.408																																						uc003hgs.3		NA																	0				ovary(3)|skin(3)	6						c.(901-903)GAA>AAA		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						116.0	112.0	113.0					4																	74279194		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74279194G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.451G>A	4.37:g.74279194G>A	ENSP00000421027:p.Glu151Lys					ALB_uc003hgw.3_Missense_Mutation_p.E109K|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.E301K|ALB_uc010iii.2_Missense_Mutation_p.E186K|ALB_uc003hgu.3_Missense_Mutation_p.E151K|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.E191K|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	p.E301K	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	974	+	Breast(15;0.00102)		301			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.901G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.472|9.472	1.095824|1.095824	0.20552|0.20552	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T;T|.	0.73789|.	-0.78;-0.78;-0.78;-0.78;-0.78|.	5.98|5.98	-3.59|-3.59	0.04583|0.04583	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	1.118250|.	0.06629|.	N|.	0.758906|.	T|T	0.28433|0.28433	0.0703|0.0703	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	P;B;B;B;B|.	0.35272|.	0.493;0.005;0.005;0.005;0.005|.	B;B;B;B;B|.	0.41764|.	0.366;0.006;0.014;0.006;0.006|.	T|T	0.32214|0.32214	-0.9915|-0.9915	10|5	0.62326|.	D|.	0.03|.	-2.3546|-2.3546	3.7568|3.7568	0.08588|0.08588	0.4988:0.1043:0.2915:0.1054|0.4988:0.1043:0.2915:0.1054	.|.	186;109;151;301;301|.	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768|.	.;.;.;.;ALBU_HUMAN|.	K|E	301;109;151;301;186;310|145	ENSP00000295897:E301K;ENSP00000401820:E109K;ENSP00000421027:E151K;ENSP00000422784:E301K;ENSP00000384695:E186K|.	ENSP00000295897:E301K|.	E|G	+|+	1|2	0|0	ALB|ALB	74498058|74498058	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.800000|0.800000	0.45204|0.45204	-0.071000|-0.071000	0.11505|0.11505	-0.622000|-0.622000	0.05626|0.05626	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.408	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		19	54	0	0	0	0	19	54				
BTC	685	broad.mit.edu	37	4	75673329	75673329	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:75673329C>T	ENST00000395743.3	-	5	819	c.459G>A	c.(457-459)aaG>aaA	p.K153K		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	153	Arg/Lys-rich (basic).				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CTTCTTCTTTCTTCTTTCTTT	0.353																																						uc003hig.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(457-459)AAG>AAA		betacellulin precursor							116.0	119.0	118.0					4																	75673329		2202	4299	6501	SO:0001819	synonymous_variant	685				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity	g.chr4:75673329C>T	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.459G>A	4.37:g.75673329C>T							p.K153K	NM_001729	NP_001720	P35070	BTC_HUMAN	Lung(101;0.219)		5	806	-			153			Cytoplasmic (Potential).|Arg/Lys-rich (basic).		Q96F48	Silent	SNP	ENST00000395743.3	37	c.459G>A	CCDS3566.1	.	.	.	.	.	.	.	.	.	.	C	1.523	-0.546448	0.04024	.	.	ENSG00000174808	ENST00000512743	.	.	.	4.84	4.0	0.46444	.	.	.	.	.	T	0.59891	0.2227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57388	-0.7820	4	.	.	.	-11.9735	9.6626	0.39965	0.0:0.9009:0.0:0.0991	.	.	.	.	K	83	.	.	R	-	2	0	BTC	75892353	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	1.246000	0.32803	1.343000	0.45638	0.655000	0.94253	AGA		0.353	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1			15	59	0	0	0	0	15	59				
C4orf26	152816	broad.mit.edu	37	4	76489445	76489445	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:76489445C>T	ENST00000311623.4	+	2	224	c.189C>T	c.(187-189)ccC>ccT	p.P63P	C4orf26_ENST00000435974.2_Missense_Mutation_p.P78L	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	63						extracellular region (GO:0005576)				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGGCCCAGCCCATCACAAAGA	0.527																																						uc003hip.1		NA																	0					0						c.(187-189)CCC>CCT		hypothetical protein LOC152816 precursor							105.0	105.0	105.0					4																	76489445		2203	4300	6503	SO:0001819	synonymous_variant	152816					extracellular region		g.chr4:76489445C>T	AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.189C>T	4.37:g.76489445C>T						C4orf26_uc011cbn.1_RNA|C4orf26_uc011cbo.1_Missense_Mutation_p.P78L	p.P63P	NM_178497	NP_848592	Q17RF5	CD026_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		2	224	+			63					B4DTI3|E7ETQ0|Q8TEC3	Silent	SNP	ENST00000311623.4	37	c.189C>T	CCDS3569.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757617	0.31137	.	.	ENSG00000174792	ENST00000435974	T	0.62105	0.05	4.93	1.11	0.20524	.	0.873804	0.09846	N	0.748194	T	0.46852	0.1414	.	.	.	0.09310	N	1	B	0.31459	0.324	B	0.28849	0.095	T	0.44128	-0.9348	9	0.87932	D	0	.	3.5176	0.07730	0.1771:0.5363:0.0:0.2866	.	78	E7ETQ0	.	L	78	ENSP00000406925:P78L	ENSP00000406925:P78L	P	+	2	0	C4orf26	76708469	0.000000	0.05858	0.005000	0.12908	0.080000	0.17528	-0.231000	0.09069	0.312000	0.23038	0.650000	0.86243	CCA		0.527	C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252410.1	NM_178497		18	69	0	0	0	0	18	69				
SHROOM3	57619	broad.mit.edu	37	4	77631416	77631416	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:77631416G>A	ENST00000296043.6	+	3	1384	c.431G>A	c.(430-432)gGg>gAg	p.G144E	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	144					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGTCAGGAGGGGTTAAACTT	0.567																																						uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(430-432)GGG>GAG		shroom family member 3 protein							87.0	75.0	79.0					4																	77631416		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77631416G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.431G>A	4.37:g.77631416G>A	ENSP00000296043:p.Gly144Glu					SHROOM3_uc011cbz.1_5'UTR	p.G144E	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		3	1384	+			144					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.431G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788939	0.31685	.	.	ENSG00000138771	ENST00000296043	T	0.24538	1.85	5.05	2.1	0.27182	.	0.000000	0.40302	N	0.001124	T	0.35711	0.0941	L	0.53249	1.67	0.36193	D	0.850227	D	0.63880	0.993	P	0.54499	0.754	T	0.51116	-0.8746	10	0.72032	D	0.01	-23.8193	12.4946	0.55921	0.0:0.5028:0.4972:0.0	.	144	Q8TF72	SHRM3_HUMAN	E	144	ENSP00000296043:G144E	ENSP00000296043:G144E	G	+	2	0	SHROOM3	77850440	0.993000	0.37304	0.999000	0.59377	0.205000	0.24178	0.316000	0.19469	0.781000	0.33589	-0.165000	0.13383	GGG		0.567	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		7	43	0	0	0	0	7	43				
SOWAHB	345079	broad.mit.edu	37	4	77817038	77817038	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:77817038C>G	ENST00000334306.2	-	1	1964	c.1965G>C	c.(1963-1965)aaG>aaC	p.K655N		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	655																	TCCCTGCCTTCTTTGCTCCAG	0.532																																						uc003hki.2		NA																	0					0						c.(1963-1965)AAG>AAC		ankyrin repeat domain 56							147.0	136.0	140.0					4																	77817038		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817038C>G		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1965G>C	4.37:g.77817038C>G	ENSP00000334879:p.Lys655Asn						p.K655N	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	1965	-			655			ANK 1.		B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1965G>C	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	4.274	0.050025	0.08243	.	.	ENSG00000186212	ENST00000334306	T	0.04454	3.62	5.39	3.48	0.39840	Ankyrin repeat-containing domain (4);	1.071950	0.07339	U	0.880452	T	0.04407	0.0121	L	0.28400	0.85	0.09310	N	0.999991	P	0.38677	0.642	B	0.34418	0.182	T	0.40136	-0.9579	10	0.30854	T	0.27	-3.3495	8.0418	0.30526	0.0:0.5956:0.2728:0.1316	.	655	A6NEL2	ANR56_HUMAN	N	655	ENSP00000334879:K655N	ENSP00000334879:K655N	K	-	3	2	ANKRD56	78036062	0.136000	0.22515	0.697000	0.30258	0.067000	0.16453	0.501000	0.22578	1.468000	0.48064	0.655000	0.94253	AAG		0.532	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		23	110	0	0	0	0	23	110				
FGF5	2250	broad.mit.edu	37	4	81188003	81188003	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:81188003C>T	ENST00000312465.7	+	1	251	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	FGF5_ENST00000456523.3_Missense_Mutation_p.L9F	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	9					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCTCCTCCTCCTCTTCTTCAG	0.627																																						uc003hmd.2		NA																	0				ovary(1)|breast(1)	2						c.(25-27)CTC>TTC		fibroblast growth factor 5 isoform 1 precursor							41.0	45.0	43.0					4																	81188003		2202	4299	6501	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188003C>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.25C>T	4.37:g.81188003C>T	ENSP00000311697:p.Leu9Phe					FGF5_uc003hme.2_Missense_Mutation_p.L9F	p.L9F	NM_004464	NP_004455	P12034	FGF5_HUMAN			1	262	+			9					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.25C>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240743	0.58995	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.11712	2.75;2.75	5.36	4.5	0.54988	.	0.504072	0.19266	N	0.118534	T	0.15825	0.0381	N	0.24115	0.695	0.25746	N	0.985108	D;P	0.63046	0.992;0.883	P;P	0.62298	0.9;0.459	T	0.04693	-1.0933	10	0.59425	D	0.04	.	8.6866	0.34240	0.1571:0.7677:0.0:0.0751	.	9;9	P12034-2;P12034	.;FGF5_HUMAN	F	9	ENSP00000311697:L9F;ENSP00000398353:L9F	ENSP00000311697:L9F	L	+	1	0	FGF5	81407027	0.990000	0.36364	0.997000	0.53966	0.872000	0.50106	0.465000	0.22004	1.436000	0.47453	0.561000	0.74099	CTC		0.627	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			3	68	0	0	0	0	3	68				
MAPK10	5602	broad.mit.edu	37	4	86988967	86988967	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:86988967T>G	ENST00000359221.3	-	10	1470	c.944A>C	c.(943-945)gAt>gCt	p.D315A	MAPK10_ENST00000361569.2_Missense_Mutation_p.D315A|MAPK10_ENST00000395160.3_Missense_Mutation_p.D170A|MAPK10_ENST00000395161.2_Missense_Mutation_p.D315A|MAPK10_ENST00000395166.1_Missense_Mutation_p.D277A|MAPK10_ENST00000449047.2_Missense_Mutation_p.D170A|MAPK10_ENST00000395157.3_Missense_Mutation_p.D170A|MAPK10_ENST00000395169.3_Missense_Mutation_p.D277A			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GAAGAGGGAATCTGGGAAGAG	0.493																																						uc003hpq.2		NA																	0				stomach(1)|breast(1)|central_nervous_system(1)	3						c.(943-945)GAT>GCT		mitogen-activated protein kinase 10 isoform 2							145.0	129.0	135.0					4																	86988967		2203	4300	6503	SO:0001583	missense	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:86988967T>G	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.944A>C	4.37:g.86988967T>G	ENSP00000352157:p.Asp315Ala					MAPK10_uc010ikg.2_Missense_Mutation_p.D277A|MAPK10_uc003hpr.2_Missense_Mutation_p.D277A|MAPK10_uc003hps.2_Missense_Mutation_p.D315A|MAPK10_uc003hpt.2_Missense_Mutation_p.D315A|MAPK10_uc003hpu.2_Missense_Mutation_p.D315A|MAPK10_uc003hpv.2_Missense_Mutation_p.D170A|MAPK10_uc003hpn.2_Missense_Mutation_p.D63A|MAPK10_uc003hpo.2_Missense_Mutation_p.D170A|MAPK10_uc011ccw.1_Missense_Mutation_p.D201A|MAPK10_uc003hpp.2_Missense_Mutation_p.D170A	p.D315A	NM_138982	NP_620448	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	9	1011	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	315			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	c.944A>C	CCDS34026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.871929|4.871929	0.91587|0.91587	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161|ENST00000515400	D;D;D;D;D;D;D;D|.	0.82081|.	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57|.	5.28|5.28	5.28|5.28	0.74379|0.74379	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|T	0.51058|0.51058	0.1652|0.1652	N|N	0.20304|0.20304	0.555|0.555	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.992;0.997;0.996;0.996;0.999|.	D;D;D;D;D|.	0.77004|.	0.951;0.971;0.952;0.952;0.989|.	T|T	0.48258|0.48258	-0.9051|-0.9051	10|5	0.72032|.	D|.	0.01|.	-17.0175|-17.0175	15.5104|15.5104	0.75776|0.75776	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	201;170;277;315;315|.	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779|.	.;.;.;.;MK10_HUMAN|.	A|S	277;315;170;315;277;170;170;315|227	ENSP00000378598:D277A;ENSP00000352157:D315A;ENSP00000378586:D170A;ENSP00000355297:D315A;ENSP00000378595:D277A;ENSP00000378589:D170A;ENSP00000414469:D170A;ENSP00000378590:D315A|.	ENSP00000352157:D315A|.	D|R	-|-	2|3	0|2	MAPK10|MAPK10	87207991|87207991	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.990000|7.990000	0.88215|0.88215	2.111000|2.111000	0.64477|0.64477	0.533000|0.533000	0.62120|0.62120	GAT|AGA		0.493	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			21	32	0	0	0	0	21	32				
AFF1	4299	broad.mit.edu	37	4	88047294	88047294	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88047294C>T	ENST00000307808.6	+	13	3016	c.2596C>T	c.(2596-2598)Ccc>Tcc	p.P866S	AFF1_ENST00000544085.1_Missense_Mutation_p.P504S|AFF1_ENST00000395146.4_Missense_Mutation_p.P873S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	866	Poly-Pro.				positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGAAATGCTCCCCCCGCCACC	0.577																																						uc003hqj.3		NA																	0				breast(1)	1						c.(2596-2598)CCC>TCC		myeloid/lymphoid or mixed-lineage leukemia							67.0	71.0	69.0					4																	88047294		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88047294C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2596C>T	4.37:g.88047294C>T	ENSP00000305689:p.Pro866Ser					AFF1_uc011ccz.1_Missense_Mutation_p.P873S|AFF1_uc003hqk.3_Missense_Mutation_p.P866S|AFF1_uc011cda.1_Missense_Mutation_p.P504S	p.P866S	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	13	3003	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	866			Poly-Pro.		B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2596C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	9.441	1.088179	0.20390	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.70045	-0.45;-0.45;-0.45	5.63	2.77	0.32553	.	0.339104	0.28192	N	0.016247	T	0.63260	0.2496	M	0.72353	2.195	0.22081	N	0.999374	B;B;B	0.23937	0.094;0.094;0.094	B;B;B	0.27170	0.077;0.077;0.077	T	0.57613	-0.7781	10	0.48119	T	0.1	-13.5956	9.0292	0.36249	0.0:0.6458:0.2786:0.0756	.	873;866;866	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	S	873;866;504	ENSP00000378578:P873S;ENSP00000305689:P866S;ENSP00000440843:P504S	ENSP00000305689:P866S	P	+	1	0	AFF1	88266318	0.044000	0.20184	0.826000	0.32828	0.090000	0.18270	0.810000	0.27183	0.707000	0.31934	0.637000	0.83480	CCC		0.577	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		15	60	0	0	0	0	15	60				
SPARCL1	8404	broad.mit.edu	37	4	88394947	88394947	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88394947C>T	ENST00000282470.6	-	11	2445	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	SPARCL1_ENST00000418378.1_Missense_Mutation_p.D659N|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D534N	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	659					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AGATTTTCATCTATGTCCTCT	0.348																																						uc010ikm.2		NA																	0				ovary(1)	1						c.(1975-1977)GAT>AAT		SPARC-like 1 precursor							89.0	98.0	95.0					4																	88394947		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88394947C>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1975G>A	4.37:g.88394947C>T	ENSP00000282470:p.Asp659Asn					SPARCL1_uc011cdc.1_Missense_Mutation_p.D534N|SPARCL1_uc003hqs.3_Missense_Mutation_p.D659N|SPARCL1_uc011cdd.1_Missense_Mutation_p.D534N	p.D659N	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	12	2547	-			659					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.1975G>A	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849748	0.32699	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.27104	2.25;2.25;1.69	4.86	4.86	0.63082	EF-hand-like domain (1);	0.216858	0.41396	D	0.000890	T	0.16128	0.0388	N	0.26042	0.785	0.38457	D	0.947103	B	0.24823	0.112	B	0.24155	0.051	T	0.10636	-1.0621	10	0.15499	T	0.54	-13.3819	9.9276	0.41503	0.0:0.9041:0.0:0.0959	.	659	Q14515	SPRL1_HUMAN	N	659;659;534;534	ENSP00000282470:D659N;ENSP00000414856:D659N;ENSP00000422903:D534N	ENSP00000282470:D659N	D	-	1	0	SPARCL1	88613971	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.900000	0.48687	2.619000	0.88677	0.655000	0.94253	GAT		0.348	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			29	114	0	0	0	0	29	114				
IBSP	3381	broad.mit.edu	37	4	88732536	88732536	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88732536C>T	ENST00000226284.5	+	7	495	c.428C>T	c.(427-429)gCt>gTt	p.A143V		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	143	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACAAATAAAGCTACAAAAGAG	0.383																																						uc003hqx.3		NA																	0					0						c.(427-429)GCT>GTT		integrin-binding sialoprotein precursor							60.0	62.0	62.0					4																	88732536		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732536C>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.428C>T	4.37:g.88732536C>T	ENSP00000226284:p.Ala143Val						p.A143V	NM_004967	NP_004958	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	526	+		Hepatocellular(203;0.114)	143			Asp/Glu-rich (acidic).			Missense_Mutation	SNP	ENST00000226284.5	37	c.428C>T	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	C	9.550	1.115775	0.20795	.	.	ENSG00000029559	ENST00000226284	T	0.14516	2.5	4.49	-0.213	0.13165	.	0.792485	0.11102	N	0.599597	T	0.14313	0.0346	L	0.57536	1.79	0.09310	N	1	B	0.17852	0.024	B	0.19391	0.025	T	0.29027	-1.0025	10	0.62326	D	0.03	.	8.0363	0.30495	0.0:0.4572:0.4426:0.1002	.	143	P21815	SIAL_HUMAN	V	143	ENSP00000226284:A143V	ENSP00000226284:A143V	A	+	2	0	IBSP	88951560	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.621000	0.05559	0.099000	0.17552	0.591000	0.81541	GCT		0.383	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			8	19	0	0	0	0	8	19				
UNC5C	8633	broad.mit.edu	37	4	96091343	96091343	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:96091343A>T	ENST00000453304.1	-	15	2940	c.2592T>A	c.(2590-2592)caT>caA	p.H864Q		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	864	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCTCCAGTCATGGCCTCTCG	0.587																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(2590-2592)CAT>CAA		unc5C precursor							121.0	123.0	122.0					4																	96091343		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96091343A>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2592T>A	4.37:g.96091343A>T	ENSP00000406022:p.His864Gln					uc003hto.2_5'Flank	p.H864Q	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	15	2746	-		Hepatocellular(203;0.114)	864			Cytoplasmic (Potential).|Death.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.2592T>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933971	0.52866	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	D	0.84873	-1.91	5.51	-1.14	0.09741	Death (2);DEATH-like (2);	0.050889	0.85682	D	0.000000	T	0.72431	0.3459	N	0.14661	0.345	0.80722	D	1	B	0.33777	0.425	B	0.36808	0.233	T	0.64330	-0.6433	10	0.51188	T	0.08	.	12.195	0.54292	0.5432:0.0:0.4568:0.0	.	864	O95185	UNC5C_HUMAN	Q	864;823	ENSP00000406022:H864Q	ENSP00000328673:H823Q	H	-	3	2	UNC5C	96310366	0.685000	0.27652	0.993000	0.49108	0.981000	0.71138	0.042000	0.13949	-0.285000	0.09089	-0.385000	0.06624	CAT		0.587	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		55	120	0	0	0	0	55	120				
UNC5C	8633	broad.mit.edu	37	4	96106245	96106245	+	Missense_Mutation	SNP	C	C	T	rs139502011	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:96106245C>T	ENST00000453304.1	-	13	2587	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	747					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.D747N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGCGATATCGTGAATTGAC	0.463													C|||	3	0.000599042	0.0	0.0	5008	,	,		16094	0.0		0.002	False		,,,				2504	0.001					uc003htp.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|pancreas(1)	4						c.(2239-2241)GAT>AAT		unc5C precursor		C	ASN/ASP	0,4406		0,0,2203	120.0	121.0	120.0		2239	5.9	0.3	4	dbSNP_134	120	11,8589	8.4+/-32.0	0,11,4289	yes	missense	UNC5C	NM_003728.3	23	0,11,6492	TT,TC,CC		0.1279,0.0,0.0846	benign	747/932	96106245	11,12995	2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96106245C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2239G>A	4.37:g.96106245C>T	ENSP00000406022:p.Asp747Asn					UNC5C_uc010ilc.1_Missense_Mutation_p.D766N	p.D747N	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	13	2393	-		Hepatocellular(203;0.114)	747			Cytoplasmic (Potential).		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.2239G>A	CCDS3643.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	35	5.543036	0.96474	0.0	0.001279	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.53857	0.6	5.87	5.87	0.94306	.	0.048289	0.85682	D	0.000000	T	0.76990	0.4065	M	0.85859	2.78	0.80722	D	1	D;D	0.65815	0.971;0.995	P;D	0.69142	0.539;0.962	T	0.79356	-0.1837	10	0.87932	D	0	.	20.2788	0.98501	0.0:1.0:0.0:0.0	.	747;747	A8K385;O95185	.;UNC5C_HUMAN	N	747;706	ENSP00000406022:D747N	ENSP00000328673:D706N	D	-	1	0	UNC5C	96325268	1.000000	0.71417	0.293000	0.24932	0.802000	0.45316	7.745000	0.85046	2.788000	0.95919	0.650000	0.86243	GAT		0.463	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		21	93	0	0	0	0	21	93				
LRIT3	345193	broad.mit.edu	37	4	110788925	110788925	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:110788925G>A	ENST00000594814.1	+	3	718	c.718G>A	c.(718-720)Gga>Aga	p.G240R	LRIT3_ENST00000327908.3_Missense_Mutation_p.G57R|LRIT3_ENST00000409621.2_Missense_Mutation_p.G57R|LRIT3_ENST00000379920.3_Missense_Mutation_p.G195R	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	240	LRRCT.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GCGCCTCACAGGAATTTTGTT	0.458																																						uc003hzx.3		NA																	0					0						c.(583-585)GGA>AGA		leucine-rich repeat, immunoglobulin-like and							118.0	107.0	111.0					4																	110788925		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110788925G>A	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.718G>A	4.37:g.110788925G>A	ENSP00000469759:p.Gly240Arg					LRIT3_uc003hzw.3_Missense_Mutation_p.G57R	p.G195R	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	2	776	+			195			LRRCT.		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.583G>A	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814284	0.70912	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.64260	-0.09;0.54;-0.09	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	D	0.85709	0.1318	10	0.87932	D	0	.	20.2228	0.98330	0.0:0.0:1.0:0.0	.	195;57	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	R	57;195;57	ENSP00000328222:G57R;ENSP00000369252:G195R;ENSP00000386734:G57R	ENSP00000328222:G57R	G	+	1	0	LRIT3	111008374	1.000000	0.71417	0.244000	0.24202	0.047000	0.14425	9.476000	0.97823	2.789000	0.95967	0.655000	0.94253	GGA		0.458	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		33	59	0	0	0	0	33	59				
EGF	1950	broad.mit.edu	37	4	110884392	110884393	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:110884392_110884393GG>AA	ENST00000265171.5	+	9	1821_1822	c.1376_1377GG>AA	c.(1375-1377)tGG>tAA	p.W459*	EGF_ENST00000509793.1_Nonsense_Mutation_p.W417*|EGF_ENST00000503392.1_Nonsense_Mutation_p.W459*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	459	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CCAGTATCCTGGGAATGTGATT	0.455																																						uc003hzy.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1375-1377)TGG>TAA		epidermal growth factor precursor	Sulindac(DB00605)																																			SO:0001587	stop_gained	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110884392_110884393GG>AA	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	Exception_encountered	4.37:g.110884392_110884393delinsAA	ENSP00000265171:p.Trp459*					EGF_uc011cfu.1_Nonsense_Mutation_p.W417*|EGF_uc011cfv.1_Nonsense_Mutation_p.W459*	p.W459*	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	9	1828_1829	+		Hepatocellular(203;0.0893)	459			EGF-like 4.|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Nonsense_Mutation	DNP	ENST00000265171.5	37	c.1376_1377GG>AA	CCDS3689.1																																																																																				0.455	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			25	113	0	0	0	0	25	113				
ANKRD50	57182	broad.mit.edu	37	4	125590149	125590150	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:125590149_125590150GG>AA	ENST00000504087.1	-	4	5319_5320	c.4282_4283CC>TT	c.(4282-4284)CCa>TTa	p.P1428L	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P1249L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1428										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTTTTATAATGGTGTTTCCTTT	0.381																																						uc003ifg.3		NA																	0				central_nervous_system(1)	1						c.(4282-4284)CCA>TTA		ankyrin repeat domain 50																																				SO:0001583	missense	57182							g.chr4:125590149_125590150GG>AA	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.4282_4283delinsAA	4.37:g.125590149_125590150delinsAA	ENSP00000425658:p.Pro1428Leu					ANKRD50_uc011cgo.1_Missense_Mutation_p.P1249L|ANKRD50_uc010inw.2_Missense_Mutation_p.P1428L	p.P1428L	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	4548_4549	-			1428					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	DNP	ENST00000504087.1	37	c.4282_4283CC>TT	CCDS34060.1																																																																																				0.381	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		15	33	0	0	0	0	15	33				
FAT4	79633	broad.mit.edu	37	4	126241562	126241562	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:126241562A>G	ENST00000394329.3	+	1	4009	c.3996A>G	c.(3994-3996)gaA>gaG	p.E1332E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1332	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAATTGGTGAACTCGTGTCCT	0.348																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3994-3996)GAA>GAG		FAT tumor suppressor homolog 4 precursor							138.0	130.0	133.0					4																	126241562		1888	4109	5997	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241562A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3996A>G	4.37:g.126241562A>G							p.E1332E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3996	+			1332			Cadherin 13.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.3996A>G	CCDS3732.3																																																																																				0.348	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		14	98	0	0	0	0	14	98				
FAT4	79633	broad.mit.edu	37	4	126411359	126411360	+	Missense_Mutation	DNP	CC	CC	TT	rs199971037		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:126411359_126411360CC>TT	ENST00000394329.3	+	17	13395_13396	c.13382_13383CC>TT	c.(13381-13383)aCC>aTT	p.T4461I	FAT4_ENST00000335110.5_Missense_Mutation_p.T2702I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4461	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACGGGAAGGACCTGTGAGATGG	0.634																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(13381-13383)ACC>ATT		FAT tumor suppressor homolog 4 precursor																																				SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411359_126411360CC>TT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	Exception_encountered	4.37:g.126411359_126411360delinsTT	ENSP00000377862:p.Thr4461Ile					FAT4_uc011cgp.1_Missense_Mutation_p.T2702I|FAT4_uc003ifi.1_Missense_Mutation_p.T1938I	p.T4461I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	13382_13383	+			4461			EGF-like 6.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	DNP	ENST00000394329.3	37	c.13382_13383CC>TT	CCDS3732.3																																																																																				0.634	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		17	57	0	0	0	0	17	57				
JADE1	79960	broad.mit.edu	37	4	129778492	129778492	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:129778492G>A	ENST00000226319.6	+	8	1144		c.e8-1		PHF17_ENST00000413543.2_Splice_Site|PHF17_ENST00000511647.1_Splice_Site|PHF17_ENST00000512960.1_Splice_Site|PHF17_ENST00000452328.2_Splice_Site	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCGACCTTTAGGTGAGCATTG	0.507																																						uc003igk.2		NA																	0					0						c.e8-1		PHD finger protein 17 long isoform							134.0	136.0	135.0					4																	129778492		2203	4300	6503	SO:0001630	splice_region_variant	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129778492G>A																												ENST00000226319.6:c.865-1G>A	4.37:g.129778492G>A						PHF17_uc003igj.2_Splice_Site_p.V289_splice|PHF17_uc003igl.2_Splice_Site_p.V277_splice|PHF17_uc011cgy.1_Splice_Site_p.V289_splice|PHF17_uc003igm.2_Splice_Site_p.V289_splice	p.V289_splice	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN			8	1145	+									Splice_Site	SNP	ENST00000226319.6	37	c.865_splice	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844551	0.71488	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	.	.	.	4.54	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7796	0.57469	0.0798:0.0:0.9202:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF17	129997942	1.000000	0.71417	0.958000	0.39756	0.898000	0.52572	8.804000	0.91921	1.248000	0.43934	0.655000	0.94253	.		0.507	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1		Intron	50	92	0	0	0	0	50	92				
HHIP	64399	broad.mit.edu	37	4	145580019	145580019	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:145580019C>T	ENST00000296575.3	+	3	1205	c.550C>T	c.(550-552)Cca>Tca	p.P184S	HHIP_ENST00000434550.2_Missense_Mutation_p.P184S|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	184					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCCAGATTTTCCAAGAAAACA	0.373																																						uc003ijs.1		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(550-552)CCA>TCA		hedgehog-interacting protein precursor							111.0	118.0	116.0					4																	145580019		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580019C>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.550C>T	4.37:g.145580019C>T	ENSP00000296575:p.Pro184Ser					HHIP_uc003ijr.1_Missense_Mutation_p.P184S	p.P184S	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	3	1205	+	all_hematologic(180;0.151)		184					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.550C>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680587	0.47886	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.43294	3.45;0.95	5.91	5.91	0.95273	Folate receptor-like (1);	0.218453	0.49305	D	0.000147	T	0.37404	0.1002	L	0.39898	1.24	0.58432	D	0.999999	B;B	0.27932	0.021;0.194	B;B	0.21546	0.034;0.035	T	0.09250	-1.0683	10	0.21014	T	0.42	-11.1754	20.3132	0.98646	0.0:1.0:0.0:0.0	.	184;184	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	S	184	ENSP00000296575:P184S;ENSP00000408587:P184S	ENSP00000296575:P184S	P	+	1	0	HHIP	145799469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.365000	0.79537	2.817000	0.96982	0.643000	0.83706	CCA		0.373	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			28	85	0	0	0	0	28	85				
MAB21L2	10586	broad.mit.edu	37	4	151504695	151504695	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:151504695C>T	ENST00000317605.4	+	1	1619	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	172					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCAAATCACTCCGGCGTTCAA	0.637																																						uc003ilw.2		NA																	0				ovary(1)	1						c.(514-516)CCG>TCG		mab-21-like protein 2							74.0	74.0	74.0					4																	151504695		2203	4300	6503	SO:0001583	missense	10586				nervous system development	nucleus		g.chr4:151504695C>T	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.514C>T	4.37:g.151504695C>T	ENSP00000324701:p.Pro172Ser					LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	p.P172S	NM_006439	NP_006430	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1619	+	all_hematologic(180;0.151)		172					B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	c.514C>T	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355751	0.82243	.	.	ENSG00000181541	ENST00000317605	T	0.10763	2.84	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	M	0.81942	2.565	0.80722	D	1	P	0.39376	0.67	P	0.49361	0.608	T	0.01334	-1.1382	10	0.66056	D	0.02	-18.7008	19.7824	0.96422	0.0:1.0:0.0:0.0	.	172	Q9Y586	MB212_HUMAN	S	172	ENSP00000324701:P172S	ENSP00000324701:P172S	P	+	1	0	MAB21L2	151724145	1.000000	0.71417	0.590000	0.28732	0.994000	0.84299	7.818000	0.86416	2.677000	0.91161	0.561000	0.74099	CCG		0.637	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		10	46	0	0	0	0	10	46				
RNF175	285533	broad.mit.edu	37	4	154641439	154641439	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:154641439G>A	ENST00000347063.4	-	6	899	c.527C>T	c.(526-528)tCc>tTc	p.S176F	RNF175_ENST00000274068.4_Missense_Mutation_p.S48F|RP11-153M7.5_ENST00000505051.1_RNA|RNF175_ENST00000506505.1_5'UTR	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	176						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				AAAATCCATGGAATCTCTAGC	0.398																																						uc003int.2		NA																	0				ovary(1)|pancreas(1)	2						c.(526-528)TCC>TTC		ring finger protein 175							83.0	78.0	80.0					4																	154641439		1848	4101	5949	SO:0001583	missense	285533					integral to membrane	zinc ion binding	g.chr4:154641439G>A	BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.527C>T	4.37:g.154641439G>A	ENSP00000340979:p.Ser176Phe					RNF175_uc003inu.1_Missense_Mutation_p.S48F	p.S176F	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN			6	900	-	all_hematologic(180;0.093)	Renal(120;0.118)	176					C9JL66|Q8NB61	Missense_Mutation	SNP	ENST00000347063.4	37	c.527C>T	CCDS47149.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528130	0.44969	.	.	ENSG00000145428	ENST00000347063;ENST00000274068;ENST00000508248	T;T;T	0.21734	1.99;1.99;1.99	4.45	3.6	0.41247	.	0.073326	0.56097	D	0.000034	T	0.31231	0.0790	L	0.42245	1.32	0.45822	D	0.99869	D;B	0.64830	0.994;0.356	D;B	0.66351	0.943;0.24	T	0.04522	-1.0945	10	0.10377	T	0.69	-15.0304	13.0368	0.58877	0.0:0.1627:0.8373:0.0	.	48;176	Q8NB61;Q8N4F7	.;RN175_HUMAN	F	176;48;116	ENSP00000340979:S176F;ENSP00000274068:S48F;ENSP00000427472:S116F	ENSP00000274068:S48F	S	-	2	0	RNF175	154860889	1.000000	0.71417	0.997000	0.53966	0.494000	0.33585	5.482000	0.66833	1.458000	0.47871	0.585000	0.79938	TCC		0.398	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662		16	62	0	0	0	0	16	62				
DCHS2	54798	broad.mit.edu	37	4	155157613	155157613	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:155157613C>T	ENST00000357232.4	-	25	6825	c.6826G>A	c.(6826-6828)Gaa>Aaa	p.E2276K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2276	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCATTTTTTCATAATCCAGA	0.343																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(6826-6828)GAA>AAA		dachsous 2 isoform 1							75.0	80.0	78.0					4																	155157613		2203	4299	6502	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157613C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6826G>A	4.37:g.155157613C>T	ENSP00000349768:p.Glu2276Lys						p.E2276K	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6826	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2276			Cadherin 20.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6826G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414926	0.62511	.	.	ENSG00000197410	ENST00000357232	T	0.72394	-0.65	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.88672	0.6500	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90461	0.4446	10	0.72032	D	0.01	.	19.9857	0.97347	0.0:1.0:0.0:0.0	.	2276	Q6V1P9	PCD23_HUMAN	K	2276	ENSP00000349768:E2276K	ENSP00000349768:E2276K	E	-	1	0	DCHS2	155377063	1.000000	0.71417	0.976000	0.42696	0.013000	0.08279	7.460000	0.80816	2.706000	0.92434	0.655000	0.94253	GAA		0.343	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		15	76	0	0	0	0	15	76				
FGG	2266	broad.mit.edu	37	4	155533728	155533728	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:155533728G>A	ENST00000336098.3	-	1	72	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	FGG_ENST00000405164.1_Missense_Mutation_p.L12F|FGG_ENST00000407946.1_Missense_Mutation_p.L12F|FGG_ENST00000404648.3_Missense_Mutation_p.L12F	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	12					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGAAGTAGAGAATTAAATTC	0.438																																						uc003ioj.2		NA																	0					0						c.(34-36)CTC>TTC		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)						85.0	92.0	90.0					4																	155533728		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155533728G>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.34C>T	4.37:g.155533728G>A	ENSP00000336829:p.Leu12Phe					FGG_uc003iog.2_Missense_Mutation_p.L12F|FGG_uc003ioh.2_Missense_Mutation_p.L12F|FGG_uc010ipx.2_5'UTR|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'Flank|FGG_uc003iok.2_Missense_Mutation_p.L12F	p.L12F	NM_021870	NP_068656	P02679	FIBG_HUMAN			1	175	-	all_hematologic(180;0.215)	Renal(120;0.0458)	12					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.34C>T	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	G	3.368	-0.129130	0.06753	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.61859	0.15;0.12;0.11;0.07	5.19	2.48	0.30137	.	0.621397	0.16703	N	0.203047	T	0.43700	0.1259	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.10296	0.002;0.002;0.002;0.003	B;B;B;B	0.11329	0.004;0.004;0.006;0.006	T	0.36286	-0.9754	10	0.54805	T	0.06	.	6.3118	0.21169	0.1655:0.1506:0.6839:0.0	.	12;12;12;12	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	F	12	ENSP00000384860:L12F;ENSP00000384101:L12F;ENSP00000336829:L12F;ENSP00000384552:L12F	ENSP00000336829:L12F	L	-	1	0	FGG	155753178	0.102000	0.21896	0.003000	0.11579	0.040000	0.13550	0.510000	0.22723	0.329000	0.23460	-0.137000	0.14449	CTC		0.438	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		12	65	0	0	0	0	12	65				
ADAM29	11086	broad.mit.edu	37	4	175898866	175898866	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:175898866C>T	ENST00000359240.3	+	5	2860	c.2190C>T	c.(2188-2190)ccC>ccT	p.P730P	ADAM29_ENST00000514159.1_Silent_p.P730P|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.P730P|ADAM29_ENST00000445694.1_Silent_p.P730P	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	730					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTTACCTCCCCAGAGTCAAC	0.463																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(2188-2190)CCC>CCT		ADAM metallopeptidase domain 29 preproprotein							109.0	101.0	104.0					4																	175898866		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898866C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2190C>T	4.37:g.175898866C>T						ADAM29_uc003iud.2_Silent_p.P730P|ADAM29_uc010irr.2_Silent_p.P730P|ADAM29_uc011cki.1_Silent_p.P730P	p.P730P	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2860	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	730			Cytoplasmic (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.2190C>T	CCDS3823.1																																																																																				0.463	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				20	88	0	0	0	0	20	88				
WDR17	116966	broad.mit.edu	37	4	177041154	177041154	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:177041154C>T	ENST00000280190.4	+	5	672	c.516C>T	c.(514-516)ttC>ttT	p.F172F	WDR17_ENST00000508596.1_Silent_p.F148F|WDR17_ENST00000507824.2_Silent_p.F172F|WDR17_ENST00000393643.2_Silent_p.F148F			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	172										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTCATAGCTTCTTGTCTGATA	0.423																																						uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(514-516)TTC>TTT		WD repeat domain 17 isoform 1							203.0	189.0	194.0					4																	177041154		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177041154C>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.516C>T	4.37:g.177041154C>T						WDR17_uc003iuk.2_Silent_p.F148F|WDR17_uc003ium.3_Silent_p.F148F|WDR17_uc003iul.1_Intron	p.F172F	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	5	672	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	172			WD 3.		E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.516C>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	2.508	-0.313728	0.05422	.	.	ENSG00000150627	ENST00000505894	.	.	.	5.44	2.72	0.32119	.	.	.	.	.	T	0.58581	0.2132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53099	-0.8486	4	.	.	.	-18.3301	9.4547	0.38747	0.0:0.7053:0.0:0.2947	.	.	.	.	F	46	.	.	S	+	2	0	WDR17	177278148	0.990000	0.36364	0.972000	0.41901	0.230000	0.25150	1.090000	0.30902	0.637000	0.30526	0.655000	0.94253	TCT		0.423	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			29	125	0	0	0	0	29	125				
WDR17	116966	broad.mit.edu	37	4	177077242	177077242	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:177077242C>T	ENST00000280190.4	+	19	2701	c.2545C>T	c.(2545-2547)Ctg>Ttg	p.L849L	WDR17_ENST00000508596.1_Silent_p.L825L|WDR17_ENST00000507824.2_Silent_p.L832L|WDR17_ENST00000393643.2_Silent_p.L825L			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	849										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGACAAAGCCCTGTCAATTGC	0.373																																						uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2545-2547)CTG>TTG		WD repeat domain 17 isoform 1							120.0	120.0	120.0					4																	177077242		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177077242C>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2545C>T	4.37:g.177077242C>T						WDR17_uc003iuk.2_Silent_p.L825L|WDR17_uc003ium.3_Silent_p.L825L|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Silent_p.L68L	p.L849L	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	19	2701	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	849					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.2545C>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874644	0.17395	.	.	ENSG00000150627	ENST00000443118	.	.	.	5.63	2.77	0.32553	.	.	.	.	.	T	0.59404	0.2191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52170	-0.8611	4	.	.	.	-10.5598	10.2856	0.43564	0.0:0.7982:0.0:0.2018	.	.	.	.	L	91	.	.	P	+	2	0	WDR17	177314236	0.301000	0.24444	0.968000	0.41197	0.942000	0.58702	0.801000	0.27055	0.238000	0.21222	0.655000	0.94253	CCT		0.373	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			27	108	0	0	0	0	27	108				
TENM3	55714	broad.mit.edu	37	4	183659600	183659600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:183659600G>A	ENST00000511685.1	+	18	3405	c.3282G>A	c.(3280-3282)tgG>tgA	p.W1094*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.W1094*|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1094					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGACTCTGTGGGAAAAGAGGA	0.468																																						uc003ivd.1		NA																	0					0						c.(3280-3282)TGG>TGA		odz, odd Oz/ten-m homolog 3							260.0	252.0	254.0					4																	183659600		1948	4161	6109	SO:0001587	stop_gained	55714				signal transduction	integral to membrane		g.chr4:183659600G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3282G>A	4.37:g.183659600G>A	ENSP00000424226:p.Trp1094*					ODZ3_uc003ive.1_Nonsense_Mutation_p.W500*	p.W1094*	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	17	3319	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1094			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	c.3282G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	43	10.495298	0.99415	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0375	0.92985	0.0:0.0:1.0:0.0	.	.	.	.	X	1094	.	ENSP00000385276:W1094X	W	+	3	0	ODZ3	183896594	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.657000	0.98554	2.733000	0.93635	0.655000	0.94253	TGG		0.468	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			46	193	0	0	0	0	46	193				
PRIMPOL	201973	broad.mit.edu	37	4	185578379	185578379	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:185578379A>G	ENST00000314970.6	+	3	518	c.85A>G	c.(85-87)Aga>Gga	p.R29G	PRIMPOL_ENST00000515774.1_Intron|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.R29G|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.R29G	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	29					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										CTCAGTGTATAGACCAAGATT	0.393																																						uc003iwk.2		NA																	0				central_nervous_system(1)	1						c.(85-87)AGA>GGA		coiled-coil domain containing 111							136.0	125.0	129.0					4																	185578379		2203	4300	6503	SO:0001583	missense	201973				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185578379A>G	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.85A>G	4.37:g.185578379A>G	ENSP00000313816:p.Arg29Gly					CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Missense_Mutation_p.R29G|CCDC111_uc003iwl.2_Missense_Mutation_p.R29G|CCDC111_uc003iwm.2_Intron|CCDC111_uc003iwn.2_Translation_Start_Site	p.R29G	NM_152683	NP_689896	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	3	518	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	29					D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	c.85A>G	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018930	0.75275	.	.	ENSG00000164306	ENST00000314970;ENST00000503752;ENST00000512834	T;T;T	0.35236	1.32;1.32;1.32	5.64	3.18	0.36537	.	0.090395	0.85682	D	0.000000	T	0.35770	0.0943	L	0.53249	1.67	0.34914	D	0.747712	P;P	0.44627	0.835;0.839	B;P	0.44394	0.42;0.448	T	0.49457	-0.8938	10	0.72032	D	0.01	-8.0285	8.5438	0.33408	0.8016:0.1309:0.0676:0.0	.	29;29	Q96LW4;D6RDM1	CC111_HUMAN;.	G	29	ENSP00000313816:R29G;ENSP00000420860:R29G;ENSP00000425316:R29G	ENSP00000313816:R29G	R	+	1	2	CCDC111	185815373	1.000000	0.71417	0.956000	0.39512	0.879000	0.50718	7.722000	0.84778	0.409000	0.25649	0.533000	0.62120	AGA		0.393	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		3	61	0	0	0	0	3	61				
SORBS2	8470	broad.mit.edu	37	4	186536271	186536271	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:186536271C>T	ENST00000284776.7	-	16	3191	c.2682G>A	c.(2680-2682)agG>agA	p.R894R	SORBS2_ENST00000431808.1_Silent_p.R894R|SORBS2_ENST00000319471.9_Silent_p.R525R|SORBS2_ENST00000449407.2_Silent_p.R438R|SORBS2_ENST00000418609.1_Silent_p.R798R|SORBS2_ENST00000437304.2_Silent_p.R618R|SORBS2_ENST00000448662.2_Silent_p.R455R|SORBS2_ENST00000355634.5_Silent_p.R994R|SORBS2_ENST00000393528.3_Silent_p.R460R|SORBS2_ENST00000498125.1_5'UTR	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	894	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATCAATTTTCCTGAGGATGT	0.438																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	0				ovary(1)	1						c.(2680-2682)AGG>AGA		sorbin and SH3 domain containing 2 isoform 2							137.0	126.0	130.0					4																	186536271		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186536271C>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2682G>A	4.37:g.186536271C>T						SORBS2_uc003iyh.2_Silent_p.R618R|SORBS2_uc011ckw.1_Silent_p.R455R|SORBS2_uc003iyi.2_Silent_p.R525R|SORBS2_uc011ckx.1_Silent_p.R460R|SORBS2_uc003iyk.2_Silent_p.R438R|SORBS2_uc003iym.2_Silent_p.R994R|SORBS2_uc003iyn.1_Silent_p.R485R|SORBS2_uc011cku.1_Silent_p.R286R|SORBS2_uc011ckv.1_Silent_p.R798R|SORBS2_uc003iyd.2_Silent_p.R593R|SORBS2_uc003iye.2_Silent_p.R467R|SORBS2_uc003iya.2_Silent_p.R414R|SORBS2_uc003iyb.2_Silent_p.R367R|SORBS2_uc003iyc.2_Silent_p.R347R|SORBS2_uc003iyg.2_Silent_p.R1008R|SORBS2_uc003iyf.2_Silent_p.R430R|SORBS2_uc003iyo.1_Silent_p.R343R	p.R894R	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	16	3540	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	894			SH3 1.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.2682G>A	CCDS3845.1																																																																																				0.438	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		20	82	0	0	0	0	20	82				
SDHA	6389	broad.mit.edu	37	5	251133	251133	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:251133C>T	ENST00000264932.6	+	12	1693	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	SDHA_ENST00000510361.1_Silent_p.F478F|SDHA_ENST00000504309.1_Intron	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	526					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CTGCCGTGTTCCGTGTGGGAA	0.448									Familial Paragangliomas																													uc003jao.3		NA																	0					0						c.(1576-1578)TTC>TTT		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						106.0	102.0	103.0					5																	251133		2203	4300	6503	SO:0001819	synonymous_variant	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:251133C>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1578C>T	5.37:g.251133C>T						SDHA_uc011clv.1_Silent_p.F526F|SDHA_uc011clw.1_Silent_p.F478F|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Silent_p.F301F|SDHA_uc003jar.3_Silent_p.F120F	p.F526F	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		12	1693	+			526					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	ENST00000264932.6	37	c.1578C>T	CCDS3853.1																																																																																				0.448	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		15	81	0	0	0	0	15	81				
AHRR	57491	broad.mit.edu	37	5	376767	376767	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:376767C>T	ENST00000505113.1	+	4	343	c.299C>T	c.(298-300)cCc>cTc	p.P100L	AHRR_ENST00000512529.1_Intron|AHRR_ENST00000316418.5_Missense_Mutation_p.P100L	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	100					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCGGCGCCCCCTCGCCCGGA	0.627																																						uc003jav.2		NA																	0				breast(2)	2						c.(298-300)CCC>CTC		arylhydrocarbon receptor repressor							24.0	30.0	28.0					5																	376767		2070	4215	6285	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:376767C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.299C>T	5.37:g.376767C>T	ENSP00000424601:p.Pro100Leu					AHRR_uc003jaw.2_Missense_Mutation_p.P96L|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Missense_Mutation_p.P96L	p.P100L	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		4	343	+			100					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.299C>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	C	6.492	0.458875	0.12342	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000510400	T;T;T	0.43688	2.25;2.24;0.94	2.95	-0.0698	0.13750	.	0.178543	0.36167	U	0.002751	T	0.21590	0.0520	L	0.29908	0.895	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.20577	0.01;0.03	T	0.07481	-1.0770	10	0.24483	T	0.36	.	1.4815	0.02437	0.22:0.4333:0.2148:0.1318	.	100;100	A9YTQ3;A9YTQ3-2	AHRR_HUMAN;.	L	100;100;96	ENSP00000424601:P100L;ENSP00000323816:P100L;ENSP00000428893:P96L	ENSP00000323816:P100L	P	+	2	0	AHRR	429767	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.115000	0.10741	-0.033000	0.13736	0.655000	0.94253	CCC		0.627	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		6	19	0	0	0	0	6	19				
SLC6A18	348932	broad.mit.edu	37	5	1240774	1240774	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:1240774G>A	ENST00000324642.3	+	7	1097	c.974G>A	c.(973-975)aGa>aAa	p.R325K	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	325					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCCTGGACAGGTGAGCACAG	0.622																																						uc003jby.1		NA																	0				ovary(1)	1						c.(973-975)AGA>AAA		solute carrier family 6, member 18							108.0	83.0	92.0					5																	1240774		2203	4300	6503	SO:0001630	splice_region_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1240774G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.974+1G>A	5.37:g.1240774G>A							p.R325K	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		7	1097	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		325			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.974G>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783812	0.16189	.	.	ENSG00000164363	ENST00000324642	T	0.73258	-0.73	4.51	4.51	0.55191	.	0.166361	0.41194	D	0.000930	T	0.53594	0.1806	L	0.37697	1.125	0.80722	D	1	B	0.31026	0.304	B	0.26310	0.068	T	0.50800	-0.8785	10	0.06236	T	0.91	.	11.4753	0.50295	0.0895:0.0:0.9105:0.0	.	325	Q96N87	S6A18_HUMAN	K	325	ENSP00000323549:R325K	ENSP00000323549:R325K	R	+	2	0	SLC6A18	1293774	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.567000	0.60850	2.063000	0.61619	0.655000	0.94253	AGA		0.622	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632	Missense_Mutation	9	29	0	0	0	0	9	29				
SEMA5A	9037	broad.mit.edu	37	5	9224870	9224870	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:9224870G>A	ENST00000382496.5	-	8	1227	c.562C>T	c.(562-564)Cca>Tca	p.P188S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	188	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCACGTCCTGGAAAATCCATG	0.562																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(562-564)CCA>TCA		semaphorin 5A precursor							109.0	92.0	98.0					5																	9224870		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9224870G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.562C>T	5.37:g.9224870G>A	ENSP00000371936:p.Pro188Ser						p.P188S	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			8	1274	-			188			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.562C>T	CCDS3875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.009|0.009	-1.855300|-1.855300	0.00558|0.00558	.|.	.|.	ENSG00000112902|ENSG00000112902	ENST00000382496;ENST00000513968|ENST00000514923	T;T|.	0.08984|.	3.03;3.03|.	5.38|5.38	2.62|2.62	0.31277|0.31277	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);|.	0.163306|.	0.56097|.	D|.	0.000024|.	T|T	0.03915|0.03915	0.0110|0.0110	N|N	0.00010|0.00010	-3.045|-3.045	0.37399|0.37399	D|D	0.912789|0.912789	B|.	0.12013|.	0.005|.	B|.	0.18871|.	0.023|.	T|T	0.13818|0.13818	-1.0495|-1.0495	10|5	0.06099|.	T|.	0.92|.	.|.	2.4596|2.4596	0.04538|0.04538	0.162:0.1512:0.5301:0.1567|0.162:0.1512:0.5301:0.1567	.|.	188|.	Q13591|.	SEM5A_HUMAN|.	S|F	188|135	ENSP00000371936:P188S;ENSP00000421961:P188S|.	ENSP00000371936:P188S|.	P|S	-|-	1|2	0|0	SEMA5A|SEMA5A	9277870|9277870	1.000000|1.000000	0.71417|0.71417	0.240000|0.240000	0.24138|0.24138	0.059000|0.059000	0.15707|0.15707	3.243000|3.243000	0.51392|0.51392	0.258000|0.258000	0.21686|0.21686	-0.133000|-0.133000	0.14855|0.14855	CCA|TCC		0.562	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			9	33	0	0	0	0	9	33				
CTNND2	1501	broad.mit.edu	37	5	11159760	11159760	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:11159760G>A	ENST00000304623.8	-	12	2276	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	CTNND2_ENST00000359640.2_Missense_Mutation_p.S696L|CTNND2_ENST00000503622.1_Missense_Mutation_p.S359L|CTNND2_ENST00000511377.1_Missense_Mutation_p.S605L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.S263L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	696					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGAAGAGGCGAATTTTCCCA	0.537																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2086-2088)TCG>TTG		catenin (cadherin-associated protein), delta 2							200.0	173.0	182.0					5																	11159760		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11159760G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2087C>T	5.37:g.11159760G>A	ENSP00000307134:p.Ser696Leu					CTNND2_uc010itt.2_Missense_Mutation_p.S605L|CTNND2_uc011cmy.1_Missense_Mutation_p.S359L|CTNND2_uc011cmz.1_Missense_Mutation_p.S263L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.S263L	p.S696L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			12	2232	-			696			ARM 5.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2087C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334375	0.95758	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.438594	0.26407	N	0.024556	D	0.88731	0.6516	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.72625	0.978;0.978;0.837	D	0.88128	0.2836	10	0.72032	D	0.01	-4.3441	20.8598	0.99761	0.0:0.0:1.0:0.0	.	359;263;696	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	L	696;696;605;263;359	ENSP00000307134:S696L;ENSP00000352661:S696L;ENSP00000426510:S605L;ENSP00000391155:S263L;ENSP00000426887:S359L	ENSP00000307134:S696L	S	-	2	0	CTNND2	11212760	1.000000	0.71417	0.948000	0.38648	0.984000	0.73092	9.383000	0.97214	2.937000	0.99478	0.650000	0.86243	TCG		0.537	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		24	87	0	0	0	0	24	87				
DNAH5	1767	broad.mit.edu	37	5	13717484	13717484	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:13717484C>T	ENST00000265104.4	-	73	12749	c.12645G>A	c.(12643-12645)gcG>gcA	p.A4215A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4215	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATTAAAGTCCGCTTGGTTAA	0.537									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12643-12645)GCG>GCA		dynein, axonemal, heavy chain 5							76.0	65.0	68.0					5																	13717484		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13717484C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12645G>A	5.37:g.13717484C>T						DNAH5_uc003jfc.2_Silent_p.A383A	p.A4215A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			73	12687	-	Lung NSC(4;0.00476)		4215			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.12645G>A	CCDS3882.1																																																																																				0.537	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	28	0	0	0	0	4	28				
DNAH5	1767	broad.mit.edu	37	5	13719151	13719151	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:13719151C>T	ENST00000265104.4	-	72	12443	c.12339G>A	c.(12337-12339)atG>atA	p.M4113I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4113	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATTATGTCCATCAGCTCAT	0.453									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12337-12339)ATG>ATA		dynein, axonemal, heavy chain 5							107.0	105.0	105.0					5																	13719151		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13719151C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12339G>A	5.37:g.13719151C>T	ENSP00000265104:p.Met4113Ile					DNAH5_uc003jfc.2_Missense_Mutation_p.M281I	p.M4113I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			72	12381	-	Lung NSC(4;0.00476)		4113			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12339G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309016	0.23821	.	.	ENSG00000039139	ENST00000265104	T	0.08193	3.12	5.59	5.59	0.84812	Dynein heavy chain (1);	0.038986	0.85682	D	0.000000	T	0.08582	0.0213	L	0.28458	0.855	0.80722	D	1	B	0.14805	0.011	B	0.18263	0.021	T	0.32640	-0.9899	10	0.14656	T	0.56	.	19.6065	0.95583	0.0:1.0:0.0:0.0	.	4113	Q8TE73	DYH5_HUMAN	I	4113	ENSP00000265104:M4113I	ENSP00000265104:M4113I	M	-	3	0	DNAH5	13772151	1.000000	0.71417	0.888000	0.34837	0.075000	0.17131	4.883000	0.63128	2.625000	0.88918	0.650000	0.86243	ATG		0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		15	55	0	0	0	0	15	55				
DNAH5	1767	broad.mit.edu	37	5	13766128	13766128	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:13766128G>A	ENST00000265104.4	-	59	10162	c.10058C>T	c.(10057-10059)tCc>tTc	p.S3353F	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3353	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAATTTTAAGGATTCCTGCCA	0.448									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10057-10059)TCC>TTC		dynein, axonemal, heavy chain 5							123.0	122.0	122.0					5																	13766128		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766128G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10058C>T	5.37:g.13766128G>A	ENSP00000265104:p.Ser3353Phe					DNAH5_uc003jfc.2_5'UTR	p.S3353F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			59	10100	-	Lung NSC(4;0.00476)		3353			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10058C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119844	0.77323	.	.	ENSG00000039139	ENST00000265104	T	0.60299	0.2	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.108521	0.64402	D	0.000004	D	0.82632	0.5079	H	0.95294	3.65	0.80722	D	1	P	0.51537	0.946	P	0.60117	0.869	D	0.87423	0.2383	10	0.87932	D	0	.	19.7357	0.96202	0.0:0.0:1.0:0.0	.	3353	Q8TE73	DYH5_HUMAN	F	3353	ENSP00000265104:S3353F	ENSP00000265104:S3353F	S	-	2	0	DNAH5	13819128	1.000000	0.71417	0.809000	0.32408	0.504000	0.33889	9.615000	0.98356	2.660000	0.90430	0.558000	0.71614	TCC		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		29	121	0	0	0	0	29	121				
MYO10	4651	broad.mit.edu	37	5	16668425	16668425	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:16668425G>A	ENST00000513610.1	-	40	6490	c.6036C>T	c.(6034-6036)atC>atT	p.I2012I	MYO10_ENST00000274203.9_Silent_p.I1369I|MYO10_ENST00000505695.1_Silent_p.I1351I|MYO10_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000515803.1_Silent_p.I1351I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2012	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.I2012I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATCGACCACGATCTTATACG	0.478																																						uc003jft.3		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|pancreas(1)	3						c.(6034-6036)ATC>ATT		myosin X							151.0	154.0	153.0					5																	16668425		2008	4173	6181	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16668425G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.6036C>T	5.37:g.16668425G>A						MYO10_uc011cnb.1_Silent_p.I641I|MYO10_uc011cnc.1_Silent_p.I891I|MYO10_uc011cnd.1_Silent_p.I1369I|MYO10_uc011cne.1_Silent_p.I1369I|MYO10_uc010itx.2_Silent_p.I1634I	p.I2012I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			40	6504	-			2012			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.6036C>T	CCDS54834.1																																																																																				0.478	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		71	102	0	0	0	0	71	102				
PRDM9	56979	broad.mit.edu	37	5	23522980	23522980	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:23522980G>A	ENST00000296682.3	+	8	1050	c.868G>A	c.(868-870)Gga>Aga	p.G290R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	290	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGCCAACAATGGATACTCCTG	0.512										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(868-870)GGA>AGA		PR domain containing 9							76.0	79.0	78.0					5																	23522980		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522980G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.868G>A	5.37:g.23522980G>A	ENSP00000296682:p.Gly290Arg	HNSCC(3;0.000094)					p.G290R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			8	1050	+			290			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.868G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416976	0.42918	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.41758	0.99	4.14	4.14	0.48551	SET domain (2);	0.214881	0.23596	N	0.046496	T	0.58864	0.2152	L	0.58302	1.8	0.33971	D	0.646825	D	0.89917	1.0	D	0.91635	0.999	T	0.71434	-0.4594	10	0.87932	D	0	-8.702	12.3038	0.54889	0.0:0.0:1.0:0.0	.	290	Q9NQV7	PRDM9_HUMAN	R	290;84	ENSP00000296682:G290R	ENSP00000253473:G84R	G	+	1	0	PRDM9	23558737	0.634000	0.27190	0.939000	0.37840	0.286000	0.27126	2.086000	0.41643	2.012000	0.59069	0.597000	0.82753	GGA		0.512	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		15	67	0	0	0	0	15	67				
PRDM9	56979	broad.mit.edu	37	5	23526913	23526913	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:23526913G>A	ENST00000296682.3	+	11	1898	c.1716G>A	c.(1714-1716)agG>agA	p.R572R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	572					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTCACCAGAGGATACACACAG	0.562										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1714-1716)AGG>AGA		PR domain containing 9							74.0	81.0	79.0					5																	23526913		2190	4297	6487	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526913G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1716G>A	5.37:g.23526913G>A		HNSCC(3;0.000094)					p.R572R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1898	+			572			C2H2-type 3.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1716G>A	CCDS43307.1																																																																																				0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		63	89	0	0	0	0	63	89				
ADAMTS12	81792	broad.mit.edu	37	5	33684050	33684050	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:33684050C>T	ENST00000504830.1	-	4	1080	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E249K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	249	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E249K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCAGTGTCTCCACCCATCTC	0.527										HNSCC(64;0.19)																												uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(745-747)GAG>AAG		ADAM metallopeptidase with thrombospondin type 1							132.0	122.0	125.0					5																	33684050		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33684050C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.745G>A	5.37:g.33684050C>T	ENSP00000422554:p.Glu249Lys	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.E249K	p.E249K	NM_030955	NP_112217	P58397	ATS12_HUMAN			4	908	-			249			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.745G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626606	0.96671	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.89939	-2.59;-2.59	4.86	4.86	0.63082	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95424	0.8514	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95985	0.8981	10	0.87932	D	0	.	18.5475	0.91053	0.0:1.0:0.0:0.0	.	249;249	P58397-3;P58397	.;ATS12_HUMAN	K	249	ENSP00000422554:E249K;ENSP00000344847:E249K	ENSP00000344847:E249K	E	-	1	0	ADAMTS12	33719807	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.538000	0.82048	2.685000	0.91497	0.544000	0.68410	GAG		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		31	126	0	0	0	0	31	126				
NIPBL	25836	broad.mit.edu	37	5	36986250	36986250	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:36986250G>A	ENST00000282516.8	+	10	3467	c.2968G>A	c.(2968-2970)Gga>Aga	p.G990R	NIPBL_ENST00000448238.2_Missense_Mutation_p.G990R|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	990					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGAAAAAATAGGATTAGTTGA	0.353																																						uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(2968-2970)GGA>AGA		delangin isoform A							135.0	150.0	145.0					5																	36986250		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36986250G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2968G>A	5.37:g.36986250G>A	ENSP00000282516:p.Gly990Arg					NIPBL_uc003jkk.3_Missense_Mutation_p.G990R|NIPBL_uc003jkm.1_Missense_Mutation_p.G869R	p.G990R	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	3467	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		990					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.2968G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975401	0.53720	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93763	-3.28;-3.27	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.93112	0.7807	N	0.19112	0.55	0.46701	D	0.999164	D;D	0.61697	0.983;0.99	P;P	0.60068	0.621;0.868	D	0.91818	0.5465	10	0.30078	T	0.28	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	990;990	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	R	990	ENSP00000282516:G990R;ENSP00000406266:G990R	ENSP00000282516:G990R	G	+	1	0	NIPBL	37022007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.258000	0.72487	2.783000	0.95769	0.655000	0.94253	GGA		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		34	160	0	0	0	0	34	160				
LIFR	3977	broad.mit.edu	37	5	38482070	38482070	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:38482070T>G	ENST00000263409.4	-	20	3083	c.2921A>C	c.(2920-2922)tAc>tCc	p.Y974S	LIFR_ENST00000453190.2_Missense_Mutation_p.Y974S	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	974					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AACATCAATGTAAATAACCTG	0.473			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				ovary(3)|large_intestine(1)	4						c.(2920-2922)TAC>TCC		leukemia inhibitory factor receptor precursor							151.0	147.0	148.0					5																	38482070		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38482070T>G	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2921A>C	5.37:g.38482070T>G	ENSP00000263409:p.Tyr974Ser					LIFR_uc003jli.2_Missense_Mutation_p.Y974S	p.Y974S	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			20	3253	-	all_lung(31;0.00021)		974			Cytoplasmic (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2921A>C	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.060634	0.55432	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.56776	0.44;0.44	6.06	6.06	0.98353	.	0.065667	0.64402	D	0.000005	T	0.71160	0.3307	M	0.67953	2.075	0.53005	D	0.999966	D	0.89917	1.0	D	0.85130	0.997	T	0.70270	-0.4918	10	0.41790	T	0.15	-20.3473	16.6245	0.84952	0.0:0.0:0.0:1.0	.	974	P42702	LIFR_HUMAN	S	974	ENSP00000263409:Y974S;ENSP00000398368:Y974S	ENSP00000263409:Y974S	Y	-	2	0	LIFR	38517827	1.000000	0.71417	0.767000	0.31495	0.244000	0.25665	5.252000	0.65445	2.323000	0.78572	0.528000	0.53228	TAC		0.473	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		37	134	0	0	0	0	37	134				
FYB	2533	broad.mit.edu	37	5	39202420	39202420	+	Missense_Mutation	SNP	G	G	A	rs528139204		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:39202420G>A	ENST00000351578.6	-	2	833	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	FYB_ENST00000505428.1_Missense_Mutation_p.P215S|FYB_ENST00000540520.1_Missense_Mutation_p.P225S|FYB_ENST00000512982.1_Missense_Mutation_p.P215S|FYB_ENST00000515010.1_Missense_Mutation_p.P215S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	215					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCTTCATGGGGCTTTCGTCT	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		15632	0.001		0.0	False		,,,				2504	0.0					uc003jls.2		NA																	0				ovary(2)	2						c.(643-645)CCC>TCC		FYN binding protein (FYB-120/130) isoform 2							64.0	64.0	64.0					5																	39202420		1844	4079	5923	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202420G>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.643C>T	5.37:g.39202420G>A	ENSP00000316460:p.Pro215Ser					FYB_uc003jlt.2_Missense_Mutation_p.P215S|FYB_uc003jlu.2_Missense_Mutation_p.P215S|FYB_uc011cpl.1_Missense_Mutation_p.P225S	p.P215S	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	710	-	all_lung(31;0.000343)		215					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.643C>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.440403	0.01098	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;2.02	5.86	3.02	0.34903	.	0.800713	0.11979	N	0.510929	T	0.14917	0.0360	L	0.53249	1.67	0.09310	N	1	B;B	0.31680	0.335;0.003	B;B	0.25140	0.058;0.002	T	0.30909	-0.9962	10	0.21014	T	0.42	1.5826	1.7375	0.02945	0.1987:0.1524:0.4809:0.1679	.	225;215	B4DLN2;O15117	.;FYB_HUMAN	S	215;215;215;215;225;215	ENSP00000316460:P215S;ENSP00000426346:P215S;ENSP00000425845:P215S;ENSP00000427114:P215S;ENSP00000442840:P225S	ENSP00000316460:P215S	P	-	1	0	FYB	39238177	0.090000	0.21635	0.002000	0.10522	0.022000	0.10575	1.390000	0.34464	0.338000	0.23692	0.655000	0.94253	CCC		0.527	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		18	95	0	0	0	0	18	95				
MROH2B	133558	broad.mit.edu	37	5	41018504	41018504	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41018504T>C	ENST00000399564.4	-	27	3152	c.2702A>G	c.(2701-2703)aAa>aGa	p.K901R	MROH2B_ENST00000506092.2_Missense_Mutation_p.K456R	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	901																	TTCCCACTCTTTTTGTGAAAC	0.353																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(2701-2703)AAA>AGA		HEAT repeat family member 7B2							82.0	76.0	78.0					5																	41018504		1852	4099	5951	SO:0001583	missense	133558						binding	g.chr5:41018504T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2702A>G	5.37:g.41018504T>C	ENSP00000382476:p.Lys901Arg					HEATR7B2_uc003jmi.3_Missense_Mutation_p.K456R	p.K901R	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			27	3192	-			901					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2702A>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	8.672	0.903122	0.17760	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.64803	-0.12;-0.12	5.96	4.82	0.62117	Armadillo-type fold (1);	0.106411	0.42821	N	0.000651	T	0.49779	0.1577	L	0.42245	1.32	0.26858	N	0.968026	B	0.14805	0.011	B	0.19946	0.027	T	0.37384	-0.9708	10	0.21540	T	0.41	.	7.3101	0.26469	0.0:0.1055:0.0:0.8945	.	901	Q7Z745	HTRB2_HUMAN	R	456;606;901	ENSP00000441504:K456R;ENSP00000382476:K901R	ENSP00000296803:K606R	K	-	2	0	HEATR7B2	41054261	0.997000	0.39634	0.942000	0.38095	0.968000	0.65278	1.144000	0.31565	1.092000	0.41356	0.533000	0.62120	AAA		0.353	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		5	32	0	0	0	0	5	32				
C6	729	broad.mit.edu	37	5	41158837	41158837	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41158837G>A	ENST00000263413.3	-	13	2171	c.1907C>T	c.(1906-1908)cCt>cTt	p.P636L	C6_ENST00000337836.5_Missense_Mutation_p.P636L|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	636	CCP 1.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCTATCTCAGGAAGATCGAC	0.393																																						uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1906-1908)CCT>CTT		complement component 6 precursor							105.0	107.0	106.0					5																	41158837		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41158837G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1907C>T	5.37:g.41158837G>A	ENSP00000263413:p.Pro636Leu					C6_uc003jml.1_Missense_Mutation_p.P636L	p.P636L	NM_000065	NP_000056	P13671	CO6_HUMAN			13	2117	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	636						Missense_Mutation	SNP	ENST00000263413.3	37	c.1907C>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226397	0.39300	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.63580	-0.05;-0.05	6.16	5.23	0.72850	.	0.691104	0.15283	N	0.270593	T	0.42177	0.1191	N	0.14661	0.345	0.37007	D	0.895558	B	0.06786	0.001	B	0.04013	0.001	T	0.39542	-0.9609	10	0.27785	T	0.31	-10.3837	8.4433	0.32828	0.084:0.0:0.6674:0.2486	.	636	P13671	CO6_HUMAN	L	636	ENSP00000338861:P636L;ENSP00000263413:P636L	ENSP00000263413:P636L	P	-	2	0	C6	41194594	0.001000	0.12720	1.000000	0.80357	0.929000	0.56500	0.648000	0.24828	2.937000	0.99478	0.650000	0.86243	CCT		0.393	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			19	35	0	0	0	0	19	35				
C6	729	broad.mit.edu	37	5	41161795	41161795	+	Splice_Site	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41161795C>A	ENST00000263413.3	-	10	1722	c.1458G>T	c.(1456-1458)gaG>gaT	p.E486D	C6_ENST00000337836.5_Splice_Site_p.E486D|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	486	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTACTCTTACCTCAAAGTCAA	0.398																																						uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1456-1458)GAG>GAT		complement component 6 precursor							109.0	111.0	111.0					5																	41161795		2203	4300	6503	SO:0001630	splice_region_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41161795C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1458+1G>T	5.37:g.41161795C>A						C6_uc003jml.1_Missense_Mutation_p.E486D	p.E486D	NM_000065	NP_000056	P13671	CO6_HUMAN			10	1668	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	486			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1458G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064736	0.76187	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84873	-1.91;-1.91	5.65	4.78	0.61160	Membrane attack complex component/perforin (MACPF) domain (3);	0.489229	0.25127	N	0.032939	D	0.88862	0.6552	M	0.85710	2.77	0.47341	D	0.999399	P	0.46512	0.879	P	0.49477	0.612	D	0.89142	0.3517	9	.	.	.	-2.353	10.7907	0.46432	0.0:0.8575:0.0:0.1425	.	486	P13671	CO6_HUMAN	D	486	ENSP00000338861:E486D;ENSP00000263413:E486D	.	E	-	3	2	C6	41197552	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	6.870000	0.75526	1.636000	0.50526	-0.136000	0.14681	GAG		0.398	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		Missense_Mutation	23	39	1	0	1.64e-13	1.7e-13	23	39				
PLCXD3	345557	broad.mit.edu	37	5	41313799	41313799	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41313799C>T	ENST00000377801.3	-	3	960	c.886G>A	c.(886-888)Gat>Aat	p.D296N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.D296N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	296					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTACAAAATCGGCAGTGACA	0.448																																						uc003jmm.1		NA																	0				skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(886-888)GAT>AAT		phosphatidylinositol-specific phospholipase C, X							120.0	106.0	111.0					5																	41313799		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41313799C>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.886G>A	5.37:g.41313799C>T	ENSP00000367032:p.Asp296Asn						p.D296N	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			3	988	-			296					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.886G>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270039	0.95429	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.73319	2.225	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.80023	-0.1556	9	0.66056	D	0.02	-16.4033	19.7362	0.96205	0.0:1.0:0.0:0.0	.	296	Q63HM9	PLCX3_HUMAN	N	296	.	ENSP00000333751:D296N	D	-	1	0	PLCXD3	41349556	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.427000	0.80284	2.678000	0.91216	0.655000	0.94253	GAT		0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		20	31	0	0	0	0	20	31				
GHR	2690	broad.mit.edu	37	5	42719110	42719110	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:42719110C>T	ENST00000230882.4	+	10	1691	c.1501C>T	c.(1501-1503)Ctt>Ttt	p.L501F	GHR_ENST00000537449.1_Missense_Mutation_p.L314F|GHR_ENST00000357703.3_Missense_Mutation_p.L479F	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	501					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TAGTGTGGTCCTTTCCCCGGG	0.488																																						uc003jmt.2		NA																	0				lung(4)|kidney(1)|skin(1)	6						c.(1501-1503)CTT>TTT		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						67.0	61.0	63.0					5																	42719110		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42719110C>T		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1501C>T	5.37:g.42719110C>T	ENSP00000230882:p.Leu501Phe					GHR_uc011cpq.1_Missense_Mutation_p.L314F	p.L501F	NM_000163	NP_000154	P10912	GHR_HUMAN			10	1544	+		Myeloproliferative disorder(839;0.00878)	501			Cytoplasmic (Potential).		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1501C>T	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977734	0.74360	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.67865	-0.29;-0.29;-0.29	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88551	0.6467	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91406	0.5147	10	0.87932	D	0	-17.904	20.0503	0.97624	0.0:1.0:0.0:0.0	.	501	P10912	GHR_HUMAN	F	501;479;314	ENSP00000230882:L501F;ENSP00000350335:L479F;ENSP00000442206:L314F	ENSP00000230882:L501F	L	+	1	0	GHR	42754867	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.674000	0.74487	2.736000	0.93811	0.591000	0.81541	CTT		0.488	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		19	38	0	0	0	0	19	38				
EMB	133418	broad.mit.edu	37	5	49707071	49707071	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:49707071G>A	ENST00000303221.5	-	3	558	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Missense_Mutation_p.L65F|EMB_ENST00000508934.1_Intron	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	115	Ig-like V-type 1.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GCACTGACAAGATAATTATTC	0.348																																						uc003jom.2		NA																	0					0						c.(343-345)CTT>TTT		embigin precursor							99.0	98.0	98.0					5																	49707071		2203	4300	6503	SO:0001583	missense	133418					integral to membrane		g.chr5:49707071G>A	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.343C>T	5.37:g.49707071G>A	ENSP00000302289:p.Leu115Phe					EMB_uc003jol.2_Missense_Mutation_p.L46F|EMB_uc011cpy.1_Missense_Mutation_p.L65F|EMB_uc010ivr.2_Intron	p.L115F	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN			3	592	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	115			Extracellular (Potential).|Ig-like V-type 1.		B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	37	c.343C>T	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	G	9.488	1.099833	0.20552	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000514111	T;T	0.46063	0.89;0.88	5.19	-4.25	0.03766	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.316080	0.01774	N	0.031362	T	0.21881	0.0527	N	0.14661	0.345	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.08680	-1.0710	9	.	.	.	2.2814	3.6382	0.08157	0.0844:0.393:0.1744:0.3482	.	115	Q6PCB8	EMB_HUMAN	F	115;87;65	ENSP00000302289:L115F;ENSP00000426404:L65F	.	L	-	1	0	EMB	49742828	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-0.827000	0.04424	-0.288000	0.09051	0.644000	0.83932	CTT		0.348	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449		20	60	0	0	0	0	20	60				
DDX4	54514	broad.mit.edu	37	5	55056103	55056103	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:55056103G>A	ENST00000505374.1	+	4	295	c.203G>A	c.(202-204)aGa>aAa	p.R68K	DDX4_ENST00000354991.5_Missense_Mutation_p.R68K|DDX4_ENST00000514278.2_Missense_Mutation_p.R68K|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.R68K|DDX4_ENST00000508580.1_3'UTR	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	68	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTGGAAACAGAGGTAAGCAT	0.373																																						uc003jqg.3		NA																	0				ovary(1)|skin(1)	2						c.(202-204)AGA>AAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform							163.0	161.0	162.0					5																	55056103		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55056103G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.203G>A	5.37:g.55056103G>A	ENSP00000424838:p.Arg68Lys					DDX4_uc010ivz.2_Missense_Mutation_p.R68K|DDX4_uc003jqh.3_Missense_Mutation_p.R68K	p.R68K	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN			4	277	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	68			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.203G>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428455	0.43122	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	T;T;T;T;T;T;T	0.47528	1.98;1.95;2.03;3.44;0.88;1.98;0.84	5.04	5.04	0.67666	.	0.133146	0.49916	D	0.000127	T	0.29458	0.0734	N	0.19112	0.55	0.34208	D	0.673929	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.11329	0.001;0.006;0.001	T	0.20405	-1.0276	10	0.05833	T	0.94	-16.9662	13.7675	0.63004	0.0:0.0:1.0:0.0	.	68;68;68	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	K	68	ENSP00000334167:R68K;ENSP00000425359:R68K;ENSP00000424838:R68K;ENSP00000427167:R68K;ENSP00000424112:R68K;ENSP00000347087:R68K;ENSP00000427522:R68K	ENSP00000334167:R68K	R	+	2	0	DDX4	55091860	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	3.949000	0.56668	2.615000	0.88500	0.563000	0.77884	AGA		0.373	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		19	60	0	0	0	0	19	60				
IL31RA	133396	broad.mit.edu	37	5	55195921	55195921	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:55195921C>T	ENST00000447346.2	+	8	1095	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	IL31RA_ENST00000396834.1_Missense_Mutation_p.P325S|IL31RA_ENST00000297015.3_Missense_Mutation_p.P202S|IL31RA_ENST00000396836.2_Missense_Mutation_p.P344S|IL31RA_ENST00000490985.1_Missense_Mutation_p.P202S|IL31RA_ENST00000359040.5_Missense_Mutation_p.P344S|IL31RA_ENST00000354961.4_Missense_Mutation_p.P325S	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	312	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGGAAGTCTCCAGTGGCCAC	0.458																																						uc003jql.2		NA																	0				ovary(1)	1						c.(1030-1032)CCA>TCA		gp130-like monocyte receptor							119.0	131.0	127.0					5																	55195921		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55195921C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1030C>T	5.37:g.55195921C>T	ENSP00000415900:p.Pro344Ser					IL31RA_uc003jqk.2_Missense_Mutation_p.P344S|IL31RA_uc011cqj.1_Missense_Mutation_p.P202S|IL31RA_uc003jqm.2_Missense_Mutation_p.P312S|IL31RA_uc003jqn.2_Missense_Mutation_p.P344S|IL31RA_uc010iwa.1_Missense_Mutation_p.P312S|IL31RA_uc003jqo.2_Missense_Mutation_p.P202S	p.P344S	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN			8	1095	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	312			Extracellular (Potential).|Fibronectin type-III 3.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.1030C>T	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	C	7.852	0.724253	0.15439	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06	4.41	2.57	0.30868	Fibronectin, type III (1);	0.481227	0.22372	N	0.060921	T	0.16471	0.0396	L	0.34521	1.04	0.33561	D	0.597302	B;P;B;B;P	0.52316	0.18;0.465;0.141;0.275;0.952	B;B;B;B;P	0.45310	0.03;0.148;0.041;0.096;0.476	T	0.21861	-1.0233	10	0.44086	T	0.13	-18.3993	6.6097	0.22745	0.1773:0.7277:0.0:0.095	.	312;344;325;344;344	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	S	344;325;344;344;202;202;325	ENSP00000380048:P344S;ENSP00000380046:P325S;ENSP00000415900:P344S;ENSP00000351935:P344S;ENSP00000297015:P202S;ENSP00000427533:P202S;ENSP00000347047:P325S	ENSP00000297015:P202S	P	+	1	0	IL31RA	55231678	0.989000	0.36119	0.112000	0.21494	0.189000	0.23516	1.853000	0.39358	0.572000	0.29383	0.655000	0.94253	CCA		0.458	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		35	166	0	0	0	0	35	166				
CRHBP	1393	broad.mit.edu	37	5	76264687	76264687	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:76264687G>A	ENST00000274368.4	+	7	1368	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	316					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CAGTATCGGGGAATTCTGTTT	0.433																																						uc003ker.2		NA																	0					0						c.(946-948)GAA>AAA		corticotropin releasing hormone binding protein							133.0	123.0	126.0					5																	76264687		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76264687G>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.946G>A	5.37:g.76264687G>A	ENSP00000274368:p.Glu316Lys						p.E316K	NM_001882	NP_001873	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	7	1226	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	316					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.946G>A	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987417	0.53934	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.64	4.74	0.60224	.	0.222920	0.45606	N	0.000359	T	0.58104	0.2099	L	0.43152	1.355	0.80722	D	1	D	0.53151	0.958	P	0.47528	0.549	T	0.63238	-0.6682	9	0.62326	D	0.03	-17.2986	16.5793	0.84710	0.0:0.1307:0.8693:0.0	.	316	P24387	CRHBP_HUMAN	K	316	.	ENSP00000274368:E316K	E	+	1	0	CRHBP	76300443	1.000000	0.71417	0.074000	0.20217	0.457000	0.32468	3.479000	0.53165	1.462000	0.47948	0.655000	0.94253	GAA		0.433	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		9	56	0	0	0	0	9	56				
DMGDH	29958	broad.mit.edu	37	5	78325767	78325767	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78325767G>A	ENST00000255189.3	-	11	1802	c.1774C>T	c.(1774-1776)Ctt>Ttt	p.L592F	DMGDH_ENST00000540686.1_Missense_Mutation_p.L212F|DMGDH_ENST00000380311.4_Missense_Mutation_p.L391F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	592					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GTAATTAAAAGAAACTCCCCA	0.368																																						uc003kfs.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1774-1776)CTT>TTT		dimethylglycine dehydrogenase precursor							66.0	69.0	68.0					5																	78325767		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78325767G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1774C>T	5.37:g.78325767G>A	ENSP00000255189:p.Leu592Phe					DMGDH_uc011cte.1_Missense_Mutation_p.L442F|DMGDH_uc011ctf.1_Missense_Mutation_p.L391F|DMGDH_uc011ctg.1_Missense_Mutation_p.L212F	p.L592F	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	11	1780	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	592					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.1774C>T	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159101	0.21454	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.6	1.31	0.21738	Glycine cleavage T-protein, N-terminal (1);	0.067899	0.64402	D	0.000017	T	0.54287	0.1849	N	0.17278	0.47	0.28005	N	0.935145	B;B;B;B	0.13594	0.004;0.003;0.004;0.008	B;B;B;B	0.20577	0.015;0.017;0.012;0.03	T	0.31806	-0.9930	10	0.12103	T	0.63	.	4.7982	0.13282	0.376:0.0:0.4472:0.1769	.	212;391;442;592	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	F	592;431;391;212;442	ENSP00000255189:L592F;ENSP00000430972:L431F;ENSP00000369667:L391F;ENSP00000439478:L212F	ENSP00000255189:L592F	L	-	1	0	DMGDH	78361523	0.999000	0.42202	0.406000	0.26421	0.963000	0.63663	0.480000	0.22244	0.328000	0.23435	0.561000	0.74099	CTT		0.368	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		11	29	0	0	0	0	11	29				
DMGDH	29958	broad.mit.edu	37	5	78338147	78338147	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78338147G>A	ENST00000255189.3	-	7	1180	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.P183P	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	384					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCCCCTGATGGGGCCCCACCA	0.418																																						uc003kfs.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1150-1152)CCC>CCT		dimethylglycine dehydrogenase precursor							75.0	72.0	73.0					5																	78338147		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78338147G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1152C>T	5.37:g.78338147G>A						DMGDH_uc011cte.1_Silent_p.P234P|DMGDH_uc011ctf.1_Silent_p.P183P|DMGDH_uc011ctg.1_Intron	p.P384P	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	7	1158	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	384					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.1152C>T	CCDS4044.1																																																																																				0.418	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		11	47	0	0	0	0	11	47				
JMY	133746	broad.mit.edu	37	5	78587049	78587049	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78587049C>T	ENST00000396137.4	+	4	1916	c.1454C>T	c.(1453-1455)tCt>tTt	p.S485F		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	485	Interaction with p300/EP300. {ECO:0000250}.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TATGCAGTTTCTAAGGAAACT	0.403																																						uc003kfx.3		NA																	0					0						c.(1453-1455)TCT>TTT		junction-mediating and regulatory protein							80.0	77.0	78.0					5																	78587049		1872	4094	5966	SO:0001583	missense	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78587049C>T	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1454C>T	5.37:g.78587049C>T	ENSP00000379441:p.Ser485Phe					JMY_uc003kfw.1_Missense_Mutation_p.S131F	p.S485F	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	4	1974	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	485			Interaction with p300/EP300 (By similarity).		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	c.1454C>T	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744309	0.89663	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.10099	2.91	5.31	5.31	0.75309	.	0.116516	0.64402	D	0.000012	T	0.32734	0.0839	M	0.68952	2.095	0.54753	D	0.999987	D	0.76494	0.999	D	0.67548	0.952	T	0.02942	-1.1091	10	0.87932	D	0	.	18.9648	0.92692	0.0:1.0:0.0:0.0	.	485	Q8N9B5	JMY_HUMAN	F	485	ENSP00000379441:S485F	ENSP00000282259:S485F	S	+	2	0	JMY	78622805	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.027000	0.76463	2.472000	0.83506	0.555000	0.69702	TCT		0.403	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		24	36	0	0	0	0	24	36				
JMY	133746	broad.mit.edu	37	5	78610464	78610465	+	Missense_Mutation	DNP	CC	CC	TT	rs200621350		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78610464_78610465CC>TT	ENST00000396137.4	+	9	2911_2912	c.2449_2450CC>TT	c.(2449-2451)CCt>TTt	p.P817F	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	817	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		tcccccacctcctccccctccc	0.53																																						uc003kfx.3		NA																	0					0						c.(2449-2451)CCT>TTT		junction-mediating and regulatory protein																																				SO:0001583	missense	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610464_78610465CC>TT	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	Exception_encountered	5.37:g.78610464_78610465delinsTT	ENSP00000379441:p.Pro817Phe					JMY_uc003kfw.1_Missense_Mutation_p.P463F	p.P817F	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2969_2970	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	817			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	DNP	ENST00000396137.4	37	c.2449_2450CC>TT	CCDS4047.3																																																																																				0.530	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		11	27	0	0	0	0	11	27				
THBS4	7060	broad.mit.edu	37	5	79351645	79351645	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:79351645T>A	ENST00000350881.2	+	3	520	c.330T>A	c.(328-330)caT>caA	p.H110Q	THBS4_ENST00000511733.1_Missense_Mutation_p.H19Q|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	110	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGAAGGTGCATTTGGTGGTTT	0.567																																						uc003kgh.2		NA																	0					0						c.(328-330)CAT>CAA		thrombospondin 4 precursor							193.0	197.0	195.0					5																	79351645		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79351645T>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.330T>A	5.37:g.79351645T>A	ENSP00000339730:p.His110Gln						p.H110Q	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	4	653	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	110			TSP N-terminal.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.330T>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.367124	0.41902	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	T;T	0.01854	4.6;4.6	5.73	-7.23	0.01480	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.088129	0.85682	D	0.000000	T	0.02848	0.0085	L	0.54323	1.7	0.09310	N	1	B	0.28128	0.201	B	0.25759	0.063	T	0.07927	-1.0747	10	0.38643	T	0.18	-24.8231	20.2951	0.98548	0.0:0.7095:0.0:0.2905	.	110	P35443	TSP4_HUMAN	Q	110;19	ENSP00000339730:H110Q;ENSP00000422298:H19Q	ENSP00000339730:H110Q	H	+	3	2	THBS4	79387401	0.000000	0.05858	0.000000	0.03702	0.674000	0.39518	-0.798000	0.04565	-1.512000	0.01791	0.482000	0.46254	CAT		0.567	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			44	193	0	0	0	0	44	193				
VCAN	1462	broad.mit.edu	37	5	82837304	82837304	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:82837304C>T	ENST00000265077.3	+	8	9047	c.8482C>T	c.(8482-8484)Ccc>Tcc	p.P2828S	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P1841S|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2828	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACCATCATCTCCCCTCACTAT	0.502																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(8482-8484)CCC>TCC		versican isoform 1 precursor							114.0	109.0	111.0					5																	82837304		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837304C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8482C>T	5.37:g.82837304C>T	ENSP00000265077:p.Pro2828Ser					VCAN_uc003kij.3_Missense_Mutation_p.P1841S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P1492S	p.P2828S	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8838	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2828			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8482C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658270	0.47467	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.84442	-1.81;-1.85	6.07	2.06	0.26882	.	0.312641	0.27841	N	0.017634	T	0.77758	0.4178	L	0.61218	1.895	0.09310	N	0.999997	P;B	0.46395	0.877;0.087	B;B	0.38712	0.28;0.03	T	0.67593	-0.5631	10	0.34782	T	0.22	.	5.2766	0.15653	0.1019:0.5933:0.1103:0.1945	.	1841;2828	P13611-2;P13611	.;CSPG2_HUMAN	S	2828;1841	ENSP00000265077:P2828S;ENSP00000340062:P1841S	ENSP00000265077:P2828S	P	+	1	0	VCAN	82873060	0.001000	0.12720	0.025000	0.17156	0.002000	0.02628	0.668000	0.25127	0.445000	0.26639	-0.136000	0.14681	CCC		0.502	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		9	66	0	0	0	0	9	66				
POLR3G	10622	broad.mit.edu	37	5	89802421	89802421	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:89802421A>C	ENST00000399107.1	+	7	715	c.515A>C	c.(514-516)aAa>aCa	p.K172T	POLR3G_ENST00000504930.1_Missense_Mutation_p.K172T	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	172	Glu-rich.				cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		gagaaaagtaaagaaggtgat	0.383																																						uc003kjq.2		NA																	0					0						c.(514-516)AAA>ACA		polymerase (RNA) III (DNA directed) polypeptide							114.0	112.0	113.0					5																	89802421		1966	4150	6116	SO:0001583	missense	10622				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity	g.chr5:89802421A>C	U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"""RNA polymerase subunits"""	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.515A>C	5.37:g.89802421A>C	ENSP00000382058:p.Lys172Thr					POLR3G_uc011cuc.1_Missense_Mutation_p.K172T	p.K172T	NM_006467	NP_006458	O15318	RPC7_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)	7	715	+		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	172			Glu-rich.		A8MTH0	Missense_Mutation	SNP	ENST00000399107.1	37	c.515A>C	CCDS43337.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.161741	0.38119	.	.	ENSG00000113356	ENST00000503373;ENST00000399107;ENST00000504930	.	.	.	4.28	4.28	0.50868	.	0.276116	0.40469	N	0.001097	T	0.68311	0.2987	L	0.54323	1.7	0.40775	D	0.983124	D	0.76494	0.999	D	0.81914	0.995	T	0.70901	-0.4746	9	0.59425	D	0.04	-14.9566	10.0017	0.41933	1.0:0.0:0.0:0.0	.	172	O15318	RPC7_HUMAN	T	172	.	ENSP00000382058:K172T	K	+	2	0	POLR3G	89838177	0.999000	0.42202	0.995000	0.50966	0.909000	0.53808	3.843000	0.55865	1.910000	0.55303	0.533000	0.62120	AAA		0.383	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370462.1	NM_006467		10	42	0	0	0	0	10	42				
GPR98	84059	broad.mit.edu	37	5	90106814	90106814	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:90106814G>A	ENST00000405460.2	+	74	15833	c.15737G>A	c.(15736-15738)cGa>cAa	p.R5246Q	GPR98_ENST00000425867.2_Missense_Mutation_p.R907Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5246					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTCTTATCCGAAGAACTGGT	0.418																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(15736-15738)CGA>CAA		G protein-coupled receptor 98 precursor							133.0	121.0	125.0					5																	90106814		1900	4128	6028	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106814G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15737G>A	5.37:g.90106814G>A	ENSP00000384582:p.Arg5246Gln					GPR98_uc003kjt.2_Missense_Mutation_p.R2952Q|GPR98_uc003kjw.2_Missense_Mutation_p.R907Q	p.R5246Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15833	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5246			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.15737G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487704	0.64074	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27256	1.68;1.68	5.5	3.48	0.39840	.	0.139522	0.50627	N	0.000118	T	0.14917	0.0360	L	0.31926	0.97	0.38611	D	0.950902	B;B;B	0.33238	0.282;0.139;0.403	B;B;B	0.16722	0.007;0.012;0.016	T	0.12708	-1.0537	9	.	.	.	.	9.1917	0.37204	0.2098:0.0:0.7902:0.0	.	907;5246;907	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	Q	5246;5246;907	ENSP00000384582:R5246Q;ENSP00000392618:R907Q	.	R	+	2	0	GPR98	90142570	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	3.021000	0.49651	0.523000	0.28482	0.655000	0.94253	CGA		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		12	68	0	0	0	0	12	68				
GPR98	84059	broad.mit.edu	37	5	90107097	90107097	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:90107097G>A	ENST00000405460.2	+	74	16116	c.16020G>A	c.(16018-16020)caG>caA	p.Q5340Q	GPR98_ENST00000425867.2_Silent_p.Q1001Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5340					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGGGAGCACAGATTGTGGAGG	0.388																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(16018-16020)CAG>CAA		G protein-coupled receptor 98 precursor							40.0	39.0	40.0					5																	90107097		1878	4119	5997	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90107097G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16020G>A	5.37:g.90107097G>A						GPR98_uc003kjt.2_Silent_p.Q3046Q|GPR98_uc003kjw.2_Silent_p.Q1001Q	p.Q5340Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	16116	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5340			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.16020G>A	CCDS47246.1																																																																																				0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		8	20	0	0	0	0	8	20				
TTC37	9652	broad.mit.edu	37	5	94860296	94860296	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:94860296C>T	ENST00000358746.2	-	16	1624		c.e16-1			NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37							cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCTCTGAAAACTAAGCCACCA	0.368																																						uc003klb.2		NA																	0				ovary(3)|pancreas(1)	4						c.e16-1		tetratricopeptide repeat domain 37							81.0	81.0	81.0					5																	94860296		2203	4300	6503	SO:0001630	splice_region_variant	9652						binding	g.chr5:94860296C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1326-1G>A	5.37:g.94860296C>T						TTC37_uc010jbf.1_Splice_Site_p.C394_splice	p.C442_splice	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			16	1596	-								O15077|Q6PJI3	Splice_Site	SNP	ENST00000358746.2	37	c.1326_splice	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406088	0.83230	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0175	0.97485	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC37	94886052	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.800000	0.75165	2.730000	0.93505	0.650000	0.86243	.		0.368	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	Intron	8	38	0	0	0	0	8	38				
EPB41L4A	64097	broad.mit.edu	37	5	111541182	111541182	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:111541182C>T	ENST00000261486.5	-	14	1474	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000505825.1_RNA|CTC-459M5.2_ENST00000506875.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	400						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GGGCTATTTTCATTCTTTGCT	0.308																																						uc003kpv.1		NA																	0				ovary(1)	1						c.(1198-1200)GAA>AAA		erythrocyte protein band 4.1-like 4							298.0	286.0	290.0					5																	111541182		1799	4074	5873	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111541182C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1198G>A	5.37:g.111541182C>T	ENSP00000261486:p.Glu400Lys					EPB41L4A_uc003kpp.1_Missense_Mutation_p.E27K	p.E400K	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	14	1472	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	400					A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.1198G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663652	0.67700	.	.	ENSG00000129595	ENST00000261486	D	0.82167	-1.58	5.63	5.63	0.86233	.	0.056069	0.64402	D	0.000002	D	0.87509	0.6195	L	0.53249	1.67	0.42482	D	0.99286	P;D	0.67145	0.914;0.996	B;D	0.77557	0.359;0.99	T	0.82768	-0.0294	10	0.08599	T	0.76	.	16.6264	0.84971	0.0:1.0:0.0:0.0	.	400;27	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	K	400	ENSP00000261486:E400K	ENSP00000261486:E400K	E	-	1	0	EPB41L4A	111569081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.686000	0.61700	2.652000	0.90054	0.655000	0.94253	GAA		0.308	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			98	346	0	0	0	0	98	346				
FTMT	94033	broad.mit.edu	37	5	121188057	121188057	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:121188057G>A	ENST00000321339.1	+	1	408	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	133	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGAGGCTGCAGAACCAGCGAG	0.597																																						uc003kss.2		NA																	0				ovary(1)	1						c.(397-399)CAG>CAA		ferritin mitochondrial precursor							61.0	63.0	62.0					5																	121188057		2203	4300	6503	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188057G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.399G>A	5.37:g.121188057G>A							p.Q133Q	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	408	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	133			Ferritin-like diiron.			Silent	SNP	ENST00000321339.1	37	c.399G>A	CCDS4128.1																																																																																				0.597	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		14	57	0	0	0	0	14	57				
ADAMTS19	171019	broad.mit.edu	37	5	128957966	128957966	+	Silent	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:128957966A>C	ENST00000274487.4	+	10	1822	c.1677A>C	c.(1675-1677)ccA>ccC	p.P559P	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	559	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAAGCTGCCAGGGATGACAT	0.468																																						uc003kvb.1		NA																	0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(1675-1677)CCA>CCC		ADAM metallopeptidase with thrombospondin type 1							163.0	138.0	147.0					5																	128957966		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128957966A>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1677A>C	5.37:g.128957966A>C						ADAMTS19_uc010jdh.1_RNA	p.P559P	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	10	1677	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	559			Disintegrin.			Silent	SNP	ENST00000274487.4	37	c.1677A>C	CCDS4146.1																																																																																				0.468	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		7	51	0	0	0	0	7	51				
FSTL4	23105	broad.mit.edu	37	5	132535173	132535173	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:132535173C>T	ENST00000265342.7	-	16	2392	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	715						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTGTGATCTCCTGCACGTGC	0.582																																						uc003kyn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2143-2145)GAG>AAG		follistatin-like 4 precursor							68.0	67.0	67.0					5																	132535173		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132535173C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2143G>A	5.37:g.132535173C>T	ENSP00000265342:p.Glu715Lys					FSTL4_uc003kym.1_Missense_Mutation_p.E364K	p.E715K	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2361	-		all_cancers(142;0.244)	715					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2143G>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.408880	0.25378	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.28454	1.61	4.64	2.83	0.33086	WD40/YVTN repeat-like-containing domain (1);	0.127819	0.51477	D	0.000087	T	0.28034	0.0691	M	0.71581	2.175	0.26437	N	0.975845	B;B	0.25850	0.002;0.136	B;B	0.20184	0.003;0.028	T	0.15235	-1.0444	10	0.31617	T	0.26	-23.3399	7.1536	0.25624	0.0:0.6469:0.0:0.3531	.	715;364	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	K	715;546	ENSP00000265342:E715K	ENSP00000265342:E715K	E	-	1	0	FSTL4	132563072	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	1.807000	0.38902	0.945000	0.37605	0.573000	0.79308	GAG		0.582	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		8	58	0	0	0	0	8	58				
SEC24A	10802	broad.mit.edu	37	5	134002527	134002527	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:134002527C>T	ENST00000398844.2	+	3	868	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	SEC24A_ENST00000322887.4_Missense_Mutation_p.P194S	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	194	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTGTACCTCCCTTAGTGAA	0.527																																						uc003kzs.2		NA																	0					0						c.(580-582)CCC>TCC		SEC24 related gene family, member A							80.0	83.0	82.0					5																	134002527		1864	4099	5963	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134002527C>T	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.580C>T	5.37:g.134002527C>T	ENSP00000381823:p.Pro194Ser					SEC24A_uc011cxu.1_5'UTR	p.P194S	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	868	+			194			Pro-rich.		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.580C>T	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584581	0.46110	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.96885	-4.16;-4.16	4.95	3.14	0.36123	.	0.315943	0.32624	N	0.005859	D	0.94791	0.8318	L	0.53249	1.67	0.32967	D	0.521833	P	0.52316	0.952	P	0.49140	0.601	D	0.93991	0.7267	10	0.45353	T	0.12	-2.1136	8.1832	0.31324	0.1562:0.7638:0.0:0.08	.	194	O95486	SC24A_HUMAN	S	194	ENSP00000381823:P194S;ENSP00000321749:P194S	ENSP00000321749:P194S	P	+	1	0	SEC24A	134030426	0.977000	0.34250	0.450000	0.26969	0.839000	0.47603	2.525000	0.45598	0.579000	0.29504	-0.243000	0.11985	CCC		0.527	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			17	93	0	0	0	0	17	93				
PITX1	5307	broad.mit.edu	37	5	134364547	134364547	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:134364547G>A	ENST00000265340.7	-	3	1283	c.867C>T	c.(865-867)tcC>tcT	p.S289S	PITX1_ENST00000506438.1_Silent_p.S289S	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	289					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		AGTGCTGTTTGGACTTGAGCC	0.701																																						uc010jea.2		NA																	0				ovary(1)	1						c.(865-867)TCC>TCT		paired-like homeodomain transcription factor 1							33.0	33.0	33.0					5																	134364547		2203	4300	6503	SO:0001819	synonymous_variant	5307					nucleolus	sequence-specific DNA binding	g.chr5:134364547G>A	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.867C>T	5.37:g.134364547G>A						PITX1_uc011cxy.1_Silent_p.S289S	p.S289S	NM_002653	NP_002644	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	3	1260	-			289			Nuclear localization signal (Potential).|OAR.		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Silent	SNP	ENST00000265340.7	37	c.867C>T	CCDS4182.1																																																																																				0.701	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			7	24	0	0	0	0	7	24				
KLHL3	26249	broad.mit.edu	37	5	137056259	137056259	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:137056259G>A	ENST00000309755.4	-	2	472	c.29C>T	c.(28-30)tCc>tTc	p.S10F	KLHL3_ENST00000394937.3_Missense_Mutation_p.S10F|KLHL3_ENST00000508657.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	10					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CAGAGTCTGGGAGCTCAGCTT	0.488																																						uc010jek.2		NA																	0					0						c.(28-30)TCC>TTC		kelch-like 3							129.0	115.0	119.0					5																	137056259		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:137056259G>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.29C>T	5.37:g.137056259G>A	ENSP00000312397:p.Ser10Phe					MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Intron	p.S10F	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	2	473	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	10					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.29C>T	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425048	0.43020	.	.	ENSG00000146021	ENST00000309755;ENST00000394937	T;T	0.75050	-0.9;-0.55	5.65	5.65	0.86999	.	0.875078	0.10015	N	0.726671	T	0.60894	0.2304	N	0.08118	0	0.32204	N	0.577446	B	0.28400	0.21	B	0.27608	0.081	T	0.61187	-0.7113	10	0.37606	T	0.19	.	17.5071	0.87749	0.0:0.0:1.0:0.0	.	10	Q9UH77	KLHL3_HUMAN	F	10	ENSP00000312397:S10F;ENSP00000378395:S10F	ENSP00000312397:S10F	S	-	2	0	KLHL3	137084158	1.000000	0.71417	0.984000	0.44739	0.651000	0.38670	3.567000	0.53813	2.670000	0.90874	0.467000	0.42956	TCC		0.488	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			12	51	0	0	0	0	12	51				
WNT8A	7478	broad.mit.edu	37	5	137426723	137426723	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:137426723C>T	ENST00000398754.1	+	6	1022	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	WNT8A_ENST00000506684.1_Silent_p.S357S	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	339					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCGCACGCTCCCCAGGCAGTG	0.517																																						uc003lcd.1		NA																	0				ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(1015-1017)TCC>TCT		wingless-type MMTV integration site family,							104.0	99.0	101.0					5																	137426723		2028	4185	6213	SO:0001819	synonymous_variant	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137426723C>T	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.1017C>T	5.37:g.137426723C>T						BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Intron|WNT8A_uc011cyk.1_Silent_p.S357S	p.S339S	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	1022	+			339					Q96S51	Silent	SNP	ENST00000398754.1	37	c.1017C>T	CCDS43368.1																																																																																				0.517	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		10	45	0	0	0	0	10	45				
BRD8	10902	broad.mit.edu	37	5	137507796	137507796	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:137507796G>A	ENST00000254900.5	-	3	515	c.144C>T	c.(142-144)ccC>ccT	p.P48P	BRD8_ENST00000402931.1_Silent_p.P48P|BRD8_ENST00000411594.2_Silent_p.P48P|BRD8_ENST00000455658.2_Intron|BRD8_ENST00000230901.5_Silent_p.P48P	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	48					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTTCTGCAAAGGGCTTGATTG	0.458																																						uc003lcf.1		NA																	0				ovary(1)	1						c.(142-144)CCC>CCT		bromodomain containing 8 isoform 2							114.0	116.0	115.0					5																	137507796		2203	4300	6503	SO:0001819	synonymous_variant	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137507796G>A	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.144C>T	5.37:g.137507796G>A						BRD8_uc003lcc.1_RNA|BRD8_uc003lcg.2_Silent_p.P48P|BRD8_uc003lci.2_Silent_p.P48P|BRD8_uc003lch.2_5'UTR|BRD8_uc011cym.1_Silent_p.P32P|BRD8_uc010jer.1_Silent_p.P17P|BRD8_uc011cyn.1_Intron|BRD8_uc010jes.1_Intron	p.P48P	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		3	199	-			48					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	c.144C>T	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	G	9.865	1.197256	0.22037	.	.	ENSG00000112983	ENST00000441656	T	0.34275	1.37	4.76	-0.403	0.12400	.	0.000000	0.85682	D	0.000000	T	0.12689	0.0308	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31888	-0.9927	7	0.02654	T	1	-6.2145	4.6173	0.12433	0.2775:0.0:0.4865:0.2361	.	.	.	.	L	42	ENSP00000398084:P42L	ENSP00000398084:P42L	P	-	2	0	BRD8	137535695	0.020000	0.18652	0.992000	0.48379	0.994000	0.84299	-0.849000	0.04322	-0.326000	0.08564	-0.253000	0.11424	CCT		0.458	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		43	83	0	0	0	0	43	83				
TMEM173	340061	broad.mit.edu	37	5	138858007	138858008	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:138858007_138858008GG>AA	ENST00000330794.4	-	6	939_940	c.606_607CC>TT	c.(604-609)ctCCca>ctTTca	p.P203S	TMEM173_ENST00000511850.1_5'Flank	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	203	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGTCCAATGGGAGGAGAATAT	0.554																																						uc003lep.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(604-609)CTCCCA>CTTTCA		transmembrane protein 173																																				SO:0001583	missense	340061				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	g.chr5:138858007_138858008GG>AA		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.606_607delinsAA	5.37:g.138858007_138858008delinsAA	ENSP00000331288:p.Pro203Ser						p.P203S	NM_198282	NP_938023	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	857_858	-			203			Cytoplasmic (Potential).		A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	DNP	ENST00000330794.4	37	c.606_607CC>TT	CCDS4215.1																																																																																				0.554	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		22	136	0	0	0	0	22	136				
ANKHD1	54882	broad.mit.edu	37	5	139905595	139905595	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:139905595C>T	ENST00000360839.2	+	26	4661	c.4507C>T	c.(4507-4509)Ccc>Tcc	p.P1503S	ANKHD1_ENST00000297183.6_Missense_Mutation_p.P1503S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1503S|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_5'Flank	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1503						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGAAGTTCCCATAGAACC	0.358																																						uc003lfs.1		NA																	0				ovary(6)	6						c.(4507-4509)CCC>TCC		ANKHD1-EIF4EBP3 protein							64.0	67.0	66.0					5																	139905595		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139905595C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4507C>T	5.37:g.139905595C>T	ENSP00000354085:p.Pro1503Ser					ANKHD1_uc003lfr.2_Missense_Mutation_p.P1503S|ANKHD1_uc003lfu.1_Missense_Mutation_p.P983S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P242S|ANKHD1_uc003lfw.2_Missense_Mutation_p.P141S|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	p.P1503S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4631	+			1503					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.4507C>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611554	0.66558	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000431508;ENST00000433049;ENST00000532219	T;T;T;T;T;T	0.67171	-0.21;-0.25;-0.09;1.78;1.57;-0.25	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.998;0.994;0.994	T	0.71718	-0.4508	10	0.19590	T	0.45	.	19.1337	0.93417	0.0:1.0:0.0:0.0	.	1503;1503;1503;1503	E9PF56;Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;.;ANKH1_HUMAN	S	1503;1503;1503;1522;159;25;1503	ENSP00000354085:P1503S;ENSP00000297183:P1503S;ENSP00000394489:P1522S;ENSP00000393204:P159S;ENSP00000390034:P25S;ENSP00000432016:P1503S	ENSP00000432016:P1503S	P	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139885779	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.442000	0.80503	2.525000	0.85131	0.460000	0.39030	CCC		0.358	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		10	53	0	0	0	0	10	53				
PCDHA1	56147	broad.mit.edu	37	5	140167698	140167698	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140167698C>T	ENST00000504120.2	+	1	1823	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	PCDHA1_ENST00000378133.3_Missense_Mutation_p.S608F|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTGTCCTATGAACTG	0.677																																						uc003lhb.2		NA																	0				skin(1)	1						c.(1822-1824)TCC>TTC		protocadherin alpha 1 isoform 1 precursor							84.0	85.0	84.0					5																	140167698		2203	4299	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167698C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1823C>T	5.37:g.140167698C>T	ENSP00000420840:p.Ser608Phe					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.S608F	p.S608F	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1823	+			608			Cadherin 6.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1823C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	11.06	1.528268	0.27299	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.52057	0.68;0.68	3.36	3.36	0.38483	Cadherin (4);Cadherin-like (1);	0.000000	0.35013	U	0.003510	T	0.68732	0.3033	M	0.85542	2.76	0.31998	N	0.603697	D;D	0.89917	1.0;0.998	D;D	0.73708	0.981;0.967	T	0.77046	-0.2733	10	0.72032	D	0.01	.	11.9302	0.52843	0.0:0.823:0.177:0.0	.	608;608	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	F	608	ENSP00000420840:S608F;ENSP00000367373:S608F	ENSP00000367373:S608F	S	+	2	0	PCDHA1	140147882	0.856000	0.29760	0.806000	0.32338	0.131000	0.20780	2.158000	0.42329	1.572000	0.49736	0.484000	0.47621	TCC		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		35	46	0	0	0	0	35	46				
PCDHA2	56146	broad.mit.edu	37	5	140176833	140176833	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140176833G>A	ENST00000526136.1	+	1	2284	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E762K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E762K	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	762	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTCTGGGGAGGACCCCCC	0.627																																						uc003lhd.2		NA																	0				ovary(4)	4						c.(2284-2286)GAG>AAG		protocadherin alpha 2 isoform 1 precursor							46.0	50.0	49.0					5																	140176833		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176833G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2284G>A	5.37:g.140176833G>A	ENSP00000431748:p.Glu762Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.E762K|PCDHA2_uc011czy.1_Missense_Mutation_p.E762K	p.E762K	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2390	+			762			Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2284G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.037704	0.75617	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.16324	2.35;2.35;2.35	4.0	3.1	0.35709	.	0.371940	0.19003	U	0.125274	T	0.47192	0.1432	M	0.92880	3.355	0.22601	N	0.998946	D;P;D	0.71674	0.971;0.594;0.998	P;B;D	0.67725	0.844;0.356;0.953	T	0.41484	-0.9506	10	0.59425	D	0.04	.	12.094	0.53744	0.0923:0.0:0.9077:0.0	.	762;762;762	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	762	ENSP00000430584:E762K;ENSP00000367372:E762K;ENSP00000431748:E762K	ENSP00000367372:E762K	E	+	1	0	PCDHA2	140157017	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	4.553000	0.60753	1.944000	0.56390	0.585000	0.79938	GAG		0.627	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		7	55	0	0	0	0	7	55				
PCDHA4	56144	broad.mit.edu	37	5	140186879	140186880	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140186879_140186880CC>TT	ENST00000530339.1	+	1	107_108	c.107_108CC>TT	c.(106-108)tCC>tTT	p.S36F	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S36F|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S36F	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCGGTCTCCGAGGAGGCCA	0.663																																						uc003lhi.2		NA																	0				ovary(4)|skin(2)	6						c.(106-108)TCC>TTT		protocadherin alpha 4 isoform 1 precursor																																				SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140186879_140186880CC>TT	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		Exception_encountered	5.37:g.140186879_140186880delinsTT	ENSP00000435300:p.Ser36Phe					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.S36F|PCDHA4_uc011daa.1_Missense_Mutation_p.S36F	p.S36F	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	208_209	+			36			Cadherin 1.|Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	DNP	ENST00000530339.1	37	c.107_108CC>TT	CCDS54916.1																																																																																				0.663	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		16	77	0	0	0	0	16	77				
PCDHA4	56144	broad.mit.edu	37	5	140187186	140187186	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140187186G>A	ENST00000530339.1	+	1	414	c.414G>A	c.(412-414)aaG>aaA	p.K138K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.K138K|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Silent_p.K138K	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	138	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACACAAAAGAACCTGTCCA	0.572																																						uc003lhi.2		NA																	0				ovary(4)|skin(2)	6						c.(412-414)AAG>AAA		protocadherin alpha 4 isoform 1 precursor							79.0	82.0	81.0					5																	140187186		2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140187186G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.414G>A	5.37:g.140187186G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.K138K|PCDHA4_uc011daa.1_Silent_p.K138K	p.K138K	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	515	+			138			Extracellular (Potential).|Cadherin 2.		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.414G>A	CCDS54916.1																																																																																				0.572	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		36	81	0	0	0	0	36	81				
PCDHA6	56142	broad.mit.edu	37	5	140207705	140207705	+	Missense_Mutation	SNP	G	G	A	rs17844300		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140207705G>A	ENST00000529310.1	+	1	143	c.29G>A	c.(28-30)gGa>gAa	p.G10E	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G10E|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	10					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGATTGGGAAAGCAATGT	0.512																																						uc003lho.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(28-30)GGA>GAA		protocadherin alpha 6 isoform 1 precursor							112.0	128.0	123.0					5																	140207705		2203	4300	6503	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140207705G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.29G>A	5.37:g.140207705G>A	ENSP00000433378:p.Gly10Glu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.G10E|PCDHA6_uc011dab.1_Missense_Mutation_p.G10E	p.G10E	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	56	+			10					O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.29G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051118	0.36181	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.53640	0.76;0.61	4.4	2.55	0.30701	.	0.222961	0.22551	U	0.058596	T	0.52289	0.1725	L	0.42581	1.335	0.09310	N	1	B;B;D	0.76494	0.009;0.014;0.999	B;B;D	0.67548	0.029;0.056;0.952	T	0.36768	-0.9734	10	0.29301	T	0.29	.	7.2692	0.26248	0.0829:0.0:0.6192:0.2979	.	10;10;10	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	E	10	ENSP00000433378:G10E;ENSP00000434113:G10E	ENSP00000434113:G10E	G	+	2	0	PCDHA6	140187889	0.002000	0.14202	0.007000	0.13788	0.519000	0.34347	0.909000	0.28558	0.382000	0.24878	0.313000	0.20887	GGA		0.512	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		34	146	0	0	0	0	34	146				
PCDHA7	56141	broad.mit.edu	37	5	140215952	140215952	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140215952A>G	ENST00000525929.1	+	1	1984	c.1984A>G	c.(1984-1986)Aca>Gca	p.T662A	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T662A|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGACAGCCACAGCCACCGT	0.657																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(1984-1986)ACA>GCA		protocadherin alpha 7 isoform 1 precursor							62.0	65.0	64.0					5																	140215952		2203	4298	6501	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215952A>G	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1984A>G	5.37:g.140215952A>G	ENSP00000436426:p.Thr662Ala					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.T662A	p.T662A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1984	+			662			Cadherin 6.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1984A>G	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.749899	0.49257	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.56275	0.47;0.47	3.42	3.42	0.39159	Cadherin (4);Cadherin-like (1);	0.000000	0.32488	U	0.006025	T	0.71643	0.3364	M	0.90369	3.11	0.24603	N	0.993764	P;D	0.65815	0.917;0.995	P;D	0.62955	0.829;0.909	T	0.64651	-0.6357	10	0.87932	D	0	.	8.8283	0.35069	0.8101:0.1899:0.0:0.0	.	662;662	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	A	662	ENSP00000436426:T662A;ENSP00000367365:T662A	ENSP00000367365:T662A	T	+	1	0	PCDHA7	140196136	1.000000	0.71417	0.998000	0.56505	0.473000	0.32948	5.661000	0.68025	1.528000	0.49103	0.379000	0.24179	ACA		0.657	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		14	59	0	0	0	0	14	59				
PCDHA10	56139	broad.mit.edu	37	5	140236455	140236455	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140236455G>A	ENST00000307360.5	+	1	822	c.822G>A	c.(820-822)aaG>aaA	p.K274K	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.K274K|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	274	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATAAACAAGGAAATGATGT	0.363																																						uc003lhx.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(820-822)AAG>AAA		protocadherin alpha 10 isoform 1 precursor							76.0	75.0	75.0					5																	140236455		2196	4270	6466	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140236455G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.822G>A	5.37:g.140236455G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.K274K|PCDHA10_uc011dad.1_Silent_p.K274K	p.K274K	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	822	+			274			Cadherin 3.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.822G>A	CCDS54921.1																																																																																				0.363	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		17	32	0	0	0	0	17	32				
PCDHA11	56138	broad.mit.edu	37	5	140249753	140249753	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140249753C>T	ENST00000398640.2	+	1	1065	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	355	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTTGTCCCTCCCAGTAC	0.572																																						uc003lia.2		NA																	0				breast(1)	1						c.(1063-1065)TCC>TCT		protocadherin alpha 11 isoform 1 precursor							75.0	77.0	76.0					5																	140249753		2203	4300	6503	SO:0001819	synonymous_variant	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140249753C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1065C>T	5.37:g.140249753C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S355S	p.S355S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1923	+			355			Cadherin 4.|Extracellular (Potential).		B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1065C>T	CCDS47284.1																																																																																				0.572	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		23	38	0	0	0	0	23	38				
PCDHA12	56137	broad.mit.edu	37	5	140256918	140256918	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140256918C>T	ENST00000398631.2	+	1	1861	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCACATCCCGTTCCACGT	0.672																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	0					0						c.(1861-1863)CCG>TCG		protocadherin alpha 12 isoform 1 precursor							237.0	214.0	222.0					5																	140256918		2203	4299	6502	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256918C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1861C>T	5.37:g.140256918C>T	ENSP00000381628:p.Pro621Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.P621S	p.P621S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1988	+			621			Cadherin 6.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1861C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108526	0.37242	.	.	ENSG00000251664	ENST00000398631	T	0.49432	0.78	4.71	2.86	0.33363	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.49626	0.1568	L	0.55213	1.73	0.30731	N	0.747246	P;D	0.55385	0.937;0.971	P;P	0.46452	0.482;0.517	T	0.56226	-0.8014	9	0.66056	D	0.02	.	14.2197	0.65818	0.0:0.7148:0.2852:0.0	.	621;621	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	S	621	ENSP00000381628:P621S	ENSP00000381628:P621S	P	+	1	0	PCDHA12	140237102	0.014000	0.17966	0.642000	0.29436	0.233000	0.25261	0.896000	0.28377	0.372000	0.24591	0.561000	0.74099	CCG		0.672	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		30	37	0	0	0	0	30	37				
PCDHA13	56136	broad.mit.edu	37	5	140263335	140263335	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140263335G>A	ENST00000289272.2	+	1	1482	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L	PCDHA13_ENST00000409494.1_Silent_p.L494L|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	494	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACTCGCTGGTGGAGCGGC	0.662																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1480-1482)CTG>CTA		protocadherin alpha 13 isoform 1 precursor							67.0	70.0	69.0					5																	140263335		2203	4299	6502	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263335G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1482G>A	5.37:g.140263335G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L494L|PCDHA13_uc003lid.2_Silent_p.L494L	p.L494L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1482	+			494			Cadherin 5.|Extracellular (Potential).		O75277	Silent	SNP	ENST00000289272.2	37	c.1482G>A	CCDS4240.1																																																																																				0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		20	41	0	0	0	0	20	41				
PCDHA13	56136	broad.mit.edu	37	5	140263918	140263918	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140263918C>T	ENST00000289272.2	+	1	2065	c.2065C>T	c.(2065-2067)Cca>Tca	p.P689S	PCDHA13_ENST00000409494.1_Missense_Mutation_p.P689S|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	689					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGTGGGTCCAGAAGCGGC	0.637																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2065-2067)CCA>TCA		protocadherin alpha 13 isoform 1 precursor							66.0	55.0	59.0					5																	140263918		2203	4299	6502	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263918C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2065C>T	5.37:g.140263918C>T	ENSP00000289272:p.Pro689Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P689S|PCDHA13_uc003lid.2_Missense_Mutation_p.P689S	p.P689S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2065	+			689			Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.2065C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	4.187	0.033258	0.08101	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.50001	0.76;0.82	4.08	-3.9	0.04181	.	.	.	.	.	T	0.31040	0.0784	N	0.25890	0.77	0.09310	N	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.06405	0.0;0.001;0.002	T	0.14504	-1.0470	9	0.27785	T	0.31	.	12.0607	0.53561	0.0:0.5564:0.229:0.2146	.	689;689;689	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	S	689	ENSP00000386821:P689S;ENSP00000289272:P689S	ENSP00000289272:P689S	P	+	1	0	PCDHA13	140244102	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.712000	0.00817	-1.430000	0.01985	-0.137000	0.14449	CCA		0.637	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		19	60	0	0	0	0	19	60				
PCDHAC1	56135	broad.mit.edu	37	5	140306562	140306562	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140306562G>A	ENST00000253807.2	+	1	85	c.85G>A	c.(85-87)Gag>Aag	p.E29K	PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E29K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	29	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCCGGAGGAGACGGAGCG	0.637																																						uc003lih.2		NA																	0				skin(3)|ovary(2)	5						c.(85-87)GAG>AAG		protocadherin alpha subfamily C, 1 isoform 1							84.0	100.0	94.0					5																	140306562		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140306562G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.85G>A	5.37:g.140306562G>A	ENSP00000253807:p.Glu29Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.E29K	p.E29K	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	261	+			29			Cadherin 1.|Extracellular (Potential).		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.85G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825697	0.96996	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.59906	0.23;0.23	5.29	5.29	0.74685	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	D	0.84406	0.5465	H	0.96208	3.785	0.40680	D	0.982293	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.89958	0.4084	9	0.87932	D	0	.	18.9288	0.92556	0.0:0.0:1.0:0.0	.	29;29	Q9H158;Q9H158-2	PCDC1_HUMAN;.	K	29	ENSP00000386356:E29K;ENSP00000253807:E29K	ENSP00000253807:E29K	E	+	1	0	PCDHAC1	140286746	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.784000	0.85713	2.460000	0.83146	0.561000	0.74099	GAG		0.637	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		6	28	0	0	0	0	6	28				
PCDHB2	56133	broad.mit.edu	37	5	140475886	140475886	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140475886C>T	ENST00000194155.4	+	1	1660	c.1512C>T	c.(1510-1512)tcC>tcT	p.S504S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCCTGGTCTCCA	0.687																																						uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1510-1512)TCC>TCT		protocadherin beta 2 precursor							71.0	76.0	74.0					5																	140475886		2203	4300	6503	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475886C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1512C>T	5.37:g.140475886C>T						PCDHB2_uc003lim.1_Silent_p.S165S	p.S504S	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1650	+			504			Extracellular (Potential).|Cadherin 5.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1512C>T	CCDS4244.1																																																																																				0.687	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		23	117	0	0	0	0	23	117				
PCDHB8	56128	broad.mit.edu	37	5	140558982	140558982	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140558982C>T	ENST00000239444.2	+	1	1612	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	456					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S456F(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.607																																						uc011dai.1		NA																	1	Substitution - Missense(1)		NS(1)	skin(4)	4						c.(1366-1368)TCC>TTC		protocadherin beta 8 precursor							127.0	173.0	158.0					5																	140558982		2203	4297	6500	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558982C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1367C>T	5.37:g.140558982C>T	ENSP00000239444:p.Ser456Phe					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.S456F	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1553	+			456			Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1367C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	8.415	0.845159	0.16963	.	.	ENSG00000120322	ENST00000239444	T	0.03181	4.02	4.26	3.38	0.38709	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.07188	0.0182	M	0.77712	2.385	0.19775	N	0.999951	B	0.31125	0.309	B	0.33196	0.159	T	0.14254	-1.0479	9	0.72032	D	0.01	.	7.3252	0.26551	0.1628:0.7474:0.0:0.0897	.	456	Q9UN66	PCDB8_HUMAN	F	456	ENSP00000239444:S456F	ENSP00000239444:S456F	S	+	2	0	PCDHB8	140539166	0.000000	0.05858	0.935000	0.37517	0.080000	0.17528	-0.275000	0.08525	1.920000	0.55613	0.305000	0.20034	TCC		0.607	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		53	434	0	0	0	0	53	434				
PCDHGA2	56113	broad.mit.edu	37	5	140719238	140719238	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140719238G>A	ENST00000394576.2	+	1	700	c.700G>A	c.(700-702)Gat>Aat	p.D234N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	234	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTCCTGGATGCGAACGA	0.597																																						uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(700-702)GAT>AAT		protocadherin gamma subfamily A, 2 isoform 1							80.0	76.0	77.0					5																	140719238		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719238G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.700G>A	5.37:g.140719238G>A	ENSP00000378077:p.Asp234Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.D234N	p.D234N	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	885	+			234			Extracellular (Potential).|Cadherin 2.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.700G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.565856	0.86439	.	.	ENSG00000081853	ENST00000394576	T	0.74209	-0.82	5.26	5.26	0.73747	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.42548	U	0.000684	D	0.90734	0.7092	H	0.95574	3.69	0.39662	D	0.970628	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;1.0	D	0.93675	0.6993	10	0.87932	D	0	.	18.8587	0.92264	0.0:0.0:1.0:0.0	.	234;234	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	N	234	ENSP00000378077:D234N	ENSP00000378077:D234N	D	+	1	0	PCDHGA2	140699422	1.000000	0.71417	0.996000	0.52242	0.606000	0.37113	9.813000	0.99286	2.629000	0.89072	0.655000	0.94253	GAT		0.597	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		13	61	0	0	0	0	13	61				
PCDHGA3	56112	broad.mit.edu	37	5	140723787	140723787	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140723787G>A	ENST00000253812.6	+	1	187	c.187G>A	c.(187-189)Gga>Aga	p.G63R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	63	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGAGCGCGGAGTCCGCAT	0.607											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljm.1		NA																	0				breast(1)	1						c.(187-189)GGA>AGA		protocadherin gamma subfamily A, 3 isoform 1							78.0	93.0	88.0					5																	140723787		2175	4289	6464	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140723787G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.187G>A	5.37:g.140723787G>A	ENSP00000253812:p.Gly63Arg		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.G63R	p.G63R	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	187	+			63			Cadherin 1.|Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.187G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	0.041	-1.283583	0.01398	.	.	ENSG00000254245	ENST00000253812	T	0.28069	1.63	5.65	1.68	0.24146	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.258158	0.19857	U	0.104519	T	0.16981	0.0408	L	0.27975	0.815	0.19775	N	0.999957	P;P	0.36789	0.484;0.57	B;B	0.37780	0.167;0.258	T	0.17137	-1.0379	10	0.12103	T	0.63	.	6.0803	0.19938	0.207:0.253:0.5399:0.0	.	63;63	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	R	63	ENSP00000253812:G63R	ENSP00000253812:G63R	G	+	1	0	PCDHGA3	140703971	0.000000	0.05858	1.000000	0.80357	0.481000	0.33189	-0.468000	0.06656	0.427000	0.26145	-0.150000	0.13652	GGA		0.607	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		29	146	0	0	0	0	29	146				
PCDHGB1	56104	broad.mit.edu	37	5	140729974	140729974	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140729974C>A	ENST00000523390.1	+	1	147	c.147C>A	c.(145-147)gcC>gcA	p.A49A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAACTTGCCAAGGATCTGG	0.542											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljo.1		NA																	0					0						c.(145-147)GCC>GCA		protocadherin gamma subfamily B, 1 isoform 1							58.0	58.0	58.0					5																	140729974		1896	4122	6018	SO:0001819	synonymous_variant	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140729974C>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.147C>A	5.37:g.140729974C>A			OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.A49A	p.A49A	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	147	+			49			Cadherin 1.|Extracellular (Potential).		Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.147C>A	CCDS54923.1																																																																																				0.542	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		4	30	1	0	0.00909568	0.00916588	4	30				
PCDHGB2	56103	broad.mit.edu	37	5	140740533	140740533	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140740533C>T	ENST00000522605.1	+	1	831	c.831C>T	c.(829-831)atC>atT	p.I277I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	277	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAGAGATCACCTACTCCT	0.468																																						uc003ljs.1		NA																	0					0						c.(829-831)ATC>ATT		protocadherin gamma subfamily B, 2 isoform 1							48.0	49.0	49.0					5																	140740533		1974	4155	6129	SO:0001819	synonymous_variant	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740533C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.831C>T	5.37:g.140740533C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Silent_p.I277I	p.I277I	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	831	+			277			Extracellular (Potential).|Cadherin 3.		Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.831C>T	CCDS54924.1																																																																																				0.468	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		8	20	0	0	0	0	8	20				
PCDHGA6	56109	broad.mit.edu	37	5	140755911	140755911	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140755911C>T	ENST00000517434.1	+	1	2261	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACCTATTCCCACGAGGTC	0.572																																						uc003ljy.1		NA																	0				breast(1)	1						c.(2260-2262)TCC>TTC		protocadherin gamma subfamily A, 6 isoform 1							86.0	90.0	89.0					5																	140755911		2203	4300	6503	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755911C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2261C>T	5.37:g.140755911C>T	ENSP00000429601:p.Ser754Phe					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.S754F	p.S754F	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2261	+			754			Cytoplasmic (Potential).		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.2261C>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	18.92	3.725582	0.68959	.	.	ENSG00000253731	ENST00000517434	T	0.45668	0.89	5.15	5.15	0.70609	.	0.000000	0.31123	U	0.008216	T	0.74839	0.3769	H	0.95917	3.74	0.25390	N	0.988539	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	T	0.73091	-0.4092	10	0.87932	D	0	.	15.2214	0.73313	0.0:0.8589:0.1411:0.0	.	754;754	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	F	754	ENSP00000429601:S754F	ENSP00000429601:S754F	S	+	2	0	PCDHGA6	140736095	0.061000	0.20836	0.993000	0.49108	0.986000	0.74619	0.629000	0.24538	2.836000	0.97738	0.655000	0.94253	TCC		0.572	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		11	69	0	0	0	0	11	69				
PCDHGA8	9708	broad.mit.edu	37	5	140774687	140774687	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140774687C>T	ENST00000398604.2	+	1	2307	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	769					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACCTGATCTTTCCCCAGC	0.488																																						uc003lkd.1		NA																	0					0						c.(2305-2307)ATC>ATT		protocadherin gamma subfamily A, 8 isoform 1							85.0	89.0	88.0					5																	140774687		2202	4299	6501	SO:0001819	synonymous_variant	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774687C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.2307C>T	5.37:g.140774687C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.I769I	p.I769I	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3205	+			769			Cytoplasmic (Potential).		A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.2307C>T	CCDS47291.1																																																																																				0.488	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		15	74	0	0	0	0	15	74				
PCDHGB3	56102	broad.mit.edu	37	5	140779294	140779294	+	Intron	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140779294G>A	ENST00000576222.1	+	1	2546				PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGACCAGGGCTCGCCTGC	0.677																																						uc003lkf.1		NA																	0					0						c.(1600-1602)GGC>AGC		protocadherin gamma subfamily B, 5 isoform 1							24.0	30.0	28.0					5																	140779294		2031	4181	6212	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779294G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26918G>A	5.37:g.140779294G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.G534S	p.G534S	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1600	+			534			Extracellular (Potential).|Cadherin 5.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1600G>A	CCDS58980.1																																																																																				0.677	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		6	24	0	0	0	0	6	24				
PCDHGA9	56107	broad.mit.edu	37	5	140783618	140783618	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140783618C>T	ENST00000573521.1	+	1	1099	c.1099C>T	c.(1099-1101)Ctt>Ttt	p.L367F	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	367	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGTAATTCTTCTTTTCAA	0.413																																						uc003lkh.1		NA																	0					0						c.(1099-1101)CTT>TTT		protocadherin gamma subfamily A, 9 isoform 1							56.0	57.0	57.0					5																	140783618		1977	4158	6135	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140783618C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1099C>T	5.37:g.140783618C>T	ENSP00000460274:p.Leu367Phe					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.L367F	p.L367F	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1099	+			367			Cadherin 4.|Extracellular (Potential).		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.1099C>T	CCDS58981.1																																																																																				0.413	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		28	25	0	0	0	0	28	25				
PCDHGA10	56106	broad.mit.edu	37	5	140795153	140795153	+	Missense_Mutation	SNP	C	C	T	rs200868391		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140795153C>T	ENST00000398610.2	+	1	2411	c.2411C>T	c.(2410-2412)cCt>cTt	p.P804L	PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	804					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAAGTTTCCTATAGAGGAT	0.393																																						uc003lkl.1		NA																	0					0						c.(2410-2412)CCT>CTT		protocadherin gamma subfamily A, 10 isoform 1		C	,,LEU/PRO,,,,,,,,,,,,,,LEU/PRO	0,4390		0,0,2195	63.0	66.0	65.0		,,2411,,,,,,,,,,,,,,2411	4.6	0.0	5		65	2,8592		0,2,4295	yes	intron,intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHGB4,PCDHGA8,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_032088.1,NM_032090.1	,,98,,,,,,,,,,,,,,98	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	,,,,,,,,,,,,,,,,	,,804/937,,,,,,,,,,,,,,804/851	140795153	2,12982	2195	4297	6492	SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140795153C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2411C>T	5.37:g.140795153C>T	ENSP00000381611:p.Pro804Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.P804L|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	p.P804L	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2411	+			804			Cytoplasmic (Potential).		Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.2411C>T	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	2.015	-0.426196	0.04701	0.0	2.33E-4	ENSG00000253846	ENST00000398610	D	0.94862	-3.54	5.42	4.55	0.56014	.	.	.	.	.	D	0.85423	0.5693	N	0.10972	0.075	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.001	T	0.72808	-0.4181	9	0.19147	T	0.46	.	5.4595	0.16610	0.3373:0.5515:0.0:0.1112	.	804;804	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	L	804	ENSP00000381611:P804L	ENSP00000381611:P804L	P	+	2	0	PCDHGA10	140775337	0.004000	0.15560	0.016000	0.15963	0.215000	0.24574	1.120000	0.31271	1.280000	0.44463	0.655000	0.94253	CCT		0.393	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		9	52	0	0	0	0	9	52				
PCDHGA12	26025	broad.mit.edu	37	5	140811010	140811010	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140811010C>T	ENST00000252085.3	+	1	826	c.684C>T	c.(682-684)atC>atT	p.I228I	PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGCGCATCCGCGTGATGG	0.667																																						uc003lkt.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(682-684)ATC>ATT		protocadherin gamma subfamily A, 12 isoform 1							51.0	53.0	52.0					5																	140811010		2203	4300	6503	SO:0001819	synonymous_variant	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811010C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.684C>T	5.37:g.140811010C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.I228I	p.I228I	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	853	+			228			Extracellular (Potential).|Cadherin 2.		O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.684C>T	CCDS4260.1																																																																																				0.667	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		11	57	0	0	0	0	11	57				
DIAPH1	1729	broad.mit.edu	37	5	140953082	140953082	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140953082G>A	ENST00000398557.4	-	16	2475	c.2335C>T	c.(2335-2337)Ctc>Ttc	p.L779F	DIAPH1_ENST00000398562.2_Missense_Mutation_p.L758F|DIAPH1_ENST00000389054.3_Missense_Mutation_p.L779F|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L770F|DIAPH1_ENST00000253811.6_Missense_Mutation_p.L779F|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L725F|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L770F|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L770F	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	779	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCCGGAGCTGCACCTCT	0.453																																						uc003llb.3		NA																	0				skin(1)	1						c.(2335-2337)CTC>TTC		diaphanous 1 isoform 1							63.0	69.0	67.0					5																	140953082		1830	4085	5915	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140953082G>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2335C>T	5.37:g.140953082G>A	ENSP00000381565:p.Leu779Phe					DIAPH1_uc003llc.3_Missense_Mutation_p.L770F|DIAPH1_uc010jgc.1_Missense_Mutation_p.L218F	p.L779F	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	2476	-			779			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.2335C>T	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966509	0.53507	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000546094	T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	4.65	3.78	0.43462	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.330234	0.24059	N	0.041929	T	0.48714	0.1515	M	0.85197	2.74	0.44500	D	0.997447	P;B;B	0.50710	0.938;0.241;0.241	P;B;B	0.52217	0.693;0.157;0.157	T	0.57039	-0.7879	10	0.87932	D	0	.	11.3233	0.49435	0.0896:0.0:0.9104:0.0	.	725;770;779	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	F	779;725;758;770;770;779;779;770;218	ENSP00000373706:L779F;ENSP00000429282:L725F;ENSP00000381570:L758F;ENSP00000373709:L770F;ENSP00000381572:L770F;ENSP00000381565:L779F;ENSP00000253811:L779F;ENSP00000428268:L770F	ENSP00000253811:L779F	L	-	1	0	DIAPH1	140933266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.753000	0.38359	1.183000	0.42943	0.591000	0.81541	CTC		0.453	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		75	114	0	0	0	0	75	114				
RBM27	54439	broad.mit.edu	37	5	145665539	145665539	+	Silent	SNP	T	T	C	rs369825206		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:145665539T>C	ENST00000265271.5	+	21	3295	c.3129T>C	c.(3127-3129)ccT>ccC	p.P1043P	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1043					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTTTTGCCTGATGATGACG	0.358																																						uc003lnz.3		NA																	0				central_nervous_system(2)|pancreas(1)	3						c.(3127-3129)CCT>CCC		RNA binding motif protein 27		T		0,3136		0,0,1568	141.0	123.0	129.0		3129	3.1	1.0	5		129	2,7162		0,2,3580	no	coding-synonymous	RBM27	NM_018989.1		0,2,5148	CC,CT,TT		0.0279,0.0,0.0194		1043/1061	145665539	2,10298	1568	3582	5150	SO:0001819	synonymous_variant	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145665539T>C	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.3129T>C	5.37:g.145665539T>C							p.P1043P	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	3295	+			1043					Q8IYW9	Silent	SNP	ENST00000265271.5	37	c.3129T>C	CCDS43378.1																																																																																				0.358	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		3	74	0	0	0	0	3	74				
FBXO38	81545	broad.mit.edu	37	5	147781995	147781995	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:147781995C>T	ENST00000340253.5	+	5	679	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	FBXO38_ENST00000394370.3_Missense_Mutation_p.R171C|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Missense_Mutation_p.R171C|FBXO38_ENST00000296701.6_Missense_Mutation_p.R171C			Q6PIJ6	FBX38_HUMAN	F-box protein 38	171					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCGTAATCGTAATGGAGC	0.358																																						uc003lpf.1		NA																	0				ovary(4)|skin(2)	6						c.(511-513)CGT>TGT		F-box protein 38 isoform b							129.0	129.0	129.0					5																	147781995		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147781995C>T	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.511C>T	5.37:g.147781995C>T	ENSP00000342023:p.Arg171Cys					FBXO38_uc003lpg.1_Missense_Mutation_p.R171C|FBXO38_uc003lph.2_Missense_Mutation_p.R171C	p.R171C	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	631	+			171					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.511C>T		.	.	.	.	.	.	.	.	.	.	C	31	5.093876	0.94149	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.41758	0.99;5.47;0.99;5.47	5.76	5.76	0.90799	.	0.102619	0.64402	D	0.000002	T	0.55752	0.1940	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.982;0.917;0.996	T	0.56860	-0.7909	10	0.87932	D	0	-15.7729	18.8946	0.92419	0.0:1.0:0.0:0.0	.	171;171;171	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	C	171	ENSP00000342023:R171C;ENSP00000296701:R171C;ENSP00000377895:R171C;ENSP00000426410:R171C	ENSP00000296701:R171C	R	+	1	0	FBXO38	147762188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.663000	0.68038	2.871000	0.98454	0.655000	0.94253	CGT		0.358	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		41	57	0	0	0	0	41	57				
AFAP1L1	134265	broad.mit.edu	37	5	148712312	148712312	+	Missense_Mutation	SNP	G	G	A	rs369805051		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:148712312G>A	ENST00000296721.4	+	17	2128	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R677Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	677						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGTGTCGGGCAAAGGAG	0.567																																						uc003lqh.2		NA																	0				breast(1)|pancreas(1)	2						c.(2029-2031)CGG>CAG		actin filament associated protein 1-like 1		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	38.0	41.0	40.0		2030,2030	4.8	0.8	5		40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AFAP1L1	NM_001146337.1,NM_152406.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	677/726,677/769	148712312	1,13005	2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148712312G>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.2030G>A	5.37:g.148712312G>A	ENSP00000296721:p.Arg677Gln					AFAP1L1_uc010jgy.2_Missense_Mutation_p.R677Q|AFAP1L1_uc003lqi.1_Missense_Mutation_p.R292Q	p.R677Q	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	2161	+			677			Potential.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.2030G>A	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284324	0.40394	0.0	1.16E-4	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.20881	2.07;2.04	5.67	4.8	0.61643	.	0.074124	0.52532	D	0.000068	T	0.18923	0.0454	L	0.53249	1.67	0.36815	D	0.8861	P;D	0.52996	0.856;0.957	B;B	0.39068	0.289;0.289	T	0.18147	-1.0346	10	0.72032	D	0.01	-26.1464	8.8337	0.35100	0.2258:0.0:0.7742:0.0	.	677;677	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	Q	677	ENSP00000296721:R677Q;ENSP00000424427:R677Q	ENSP00000296721:R677Q	R	+	2	0	AFAP1L1	148692505	1.000000	0.71417	0.839000	0.33178	0.023000	0.10783	3.337000	0.52120	1.403000	0.46800	0.655000	0.94253	CGG		0.567	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		32	47	0	0	0	0	32	47				
PDGFRB	5159	broad.mit.edu	37	5	149500535	149500535	+	Silent	SNP	G	G	A	rs143375423	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149500535G>A	ENST00000261799.4	-	18	2971	c.2502C>T	c.(2500-2502)atC>atT	p.I834I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	834	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCTTCACAGATGAGCACGT	0.562			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								G|||	4	0.000798722	0.003	0.0	5008	,	,		19939	0.0		0.0	False		,,,				2504	0.0					uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(2500-2502)ATC>ATT		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	G		20,4386	28.1+/-56.4	0,20,2183	152.0	130.0	138.0		2502	5.0	1.0	5	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDGFRB	NM_002609.3		0,21,6482	AA,AG,GG		0.0116,0.4539,0.1615		834/1107	149500535	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149500535G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2502C>T	5.37:g.149500535G>A						PDGFRB_uc010jhd.2_Silent_p.I673I	p.I834I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	2971	-		all_hematologic(541;0.224)	834			Cytoplasmic (Potential).|Protein kinase.		B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.2502C>T	CCDS4303.1																																																																																				0.562	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		18	63	0	0	0	0	18	63				
PDGFRB	5159	broad.mit.edu	37	5	149514449	149514449	+	Silent	SNP	C	C	T	rs535834859		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149514449C>T	ENST00000261799.4	-	4	964	c.495G>A	c.(493-495)ggG>ggA	p.G165G		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	165	Ig-like C2-type 2.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCAACGTCCCCTTTCTTCT	0.507			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								C|||	1	0.000199681	0.0	0.0014	5008	,	,		22533	0.0		0.0	False		,,,				2504	0.0					uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(493-495)GGG>GGA		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						157.0	152.0	154.0					5																	149514449		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149514449C>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.495G>A	5.37:g.149514449C>T						PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Silent_p.G165G	p.G165G	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	964	-		all_hematologic(541;0.224)	165			Extracellular (Potential).|Ig-like C2-type 2.		B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.495G>A	CCDS4303.1																																																																																				0.507	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		44	98	0	0	0	0	44	98				
TCOF1	6949	broad.mit.edu	37	5	149755775	149755775	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149755775C>T	ENST00000504761.2	+	13	2024	c.2024C>T	c.(2023-2025)cCa>cTa	p.P675L	TCOF1_ENST00000513346.1_Missense_Mutation_p.P675L|TCOF1_ENST00000323668.7_Missense_Mutation_p.P598L|TCOF1_ENST00000451292.1_Missense_Mutation_p.P675L|TCOF1_ENST00000445265.2_Missense_Mutation_p.P598L|TCOF1_ENST00000439160.2_Missense_Mutation_p.P675L|TCOF1_ENST00000377797.3_Missense_Mutation_p.P675L|TCOF1_ENST00000394269.3_Missense_Mutation_p.P675L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	675					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGACTTCTCCAGCAGGCTCA	0.577																																						uc003lry.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(2023-2025)CCA>CTA		Treacher Collins-Franceschetti syndrome 1							106.0	125.0	119.0					5																	149755775		2200	4298	6498	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755775C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2024C>T	5.37:g.149755775C>T	ENSP00000421655:p.Pro675Leu					TCOF1_uc003lrw.2_Missense_Mutation_p.P675L|TCOF1_uc011dch.1_Missense_Mutation_p.P675L|TCOF1_uc003lrz.2_Missense_Mutation_p.P675L|TCOF1_uc003lrx.2_Missense_Mutation_p.P598L|TCOF1_uc003lsa.2_Missense_Mutation_p.P598L|TCOF1_uc011dci.1_Missense_Mutation_p.P164L	p.P675L	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2132	+		all_hematologic(541;0.224)	675					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.2024C>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228281	0.58777	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	4.9	4.02	0.46733	Treacher Collins syndrome, treacle (1);	0.449943	0.16626	N	0.206251	T	0.65954	0.2741	M	0.66939	2.045	0.09310	N	1	P;P;P;P;P;P;P	0.44139	0.827;0.793;0.793;0.793;0.827;0.793;0.793	P;B;B;B;P;B;B	0.45276	0.475;0.344;0.344;0.344;0.475;0.344;0.344	T	0.60984	-0.7154	10	0.49607	T	0.09	-1.4422	8.4729	0.32997	0.0:0.8945:0.0:0.1055	.	184;675;598;675;675;598;675	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	L	675;675;598;598;675;675;675;675;675	ENSP00000400939:P675L;ENSP00000367028:P675L;ENSP00000409944:P598L;ENSP00000325223:P598L;ENSP00000406888:P675L;ENSP00000377811:P675L;ENSP00000390717:P675L;ENSP00000421655:P675L;ENSP00000427484:P675L	ENSP00000325223:P598L	P	+	2	0	TCOF1	149735968	0.000000	0.05858	0.006000	0.13384	0.050000	0.14768	0.703000	0.25646	2.430000	0.82344	0.561000	0.74099	CCA		0.577	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		43	173	0	0	0	0	43	173				
TCOF1	6949	broad.mit.edu	37	5	149772279	149772279	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149772279C>T	ENST00000504761.2	+	22	3526	c.3526C>T	c.(3526-3528)Ccc>Tcc	p.P1176S	TCOF1_ENST00000513346.1_Missense_Mutation_p.P1176S|TCOF1_ENST00000323668.7_Missense_Mutation_p.P1099S|TCOF1_ENST00000451292.1_Missense_Mutation_p.P1213S|TCOF1_ENST00000445265.2_Missense_Mutation_p.P1100S|TCOF1_ENST00000439160.2_Missense_Mutation_p.P1139S|TCOF1_ENST00000377797.3_Missense_Mutation_p.P1177S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1176			P -> R (in dbSNP:rs1136103).		skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCCCACCCCCTCCAGGAC	0.637																																						uc003lry.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(3526-3528)CCC>TCC		Treacher Collins-Franceschetti syndrome 1							51.0	47.0	48.0					5																	149772279		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149772279C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3526C>T	5.37:g.149772279C>T	ENSP00000421655:p.Pro1176Ser					TCOF1_uc011dch.1_Missense_Mutation_p.P1139S|TCOF1_uc003lrz.2_Missense_Mutation_p.P1138S|TCOF1_uc003lrx.2_Missense_Mutation_p.P1100S|TCOF1_uc003lsa.2_Missense_Mutation_p.P1099S	p.P1176S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3634	+		all_hematologic(541;0.224)	1176					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.3526C>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497493	0.64186	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	5.28	2.42	0.29668	.	0.629309	0.13283	N	0.399585	T	0.52403	0.1732	L	0.29908	0.895	0.09310	N	1	P;P;P;D;P	0.69078	0.893;0.573;0.893;0.997;0.573	P;B;P;P;B	0.57911	0.563;0.343;0.563;0.829;0.343	T	0.39440	-0.9614	10	0.48119	T	0.1	-0.2445	8.6389	0.33966	0.174:0.5308:0.2952:0.0	.	1139;1099;1138;1176;1100	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	S	1213;1177;1100;1099;1139;1138;1176;1176	ENSP00000400939:P1213S;ENSP00000367028:P1177S;ENSP00000409944:P1100S;ENSP00000325223:P1099S;ENSP00000406888:P1139S;ENSP00000390717:P1138S;ENSP00000421655:P1176S;ENSP00000427484:P1176S	ENSP00000325223:P1099S	P	+	1	0	TCOF1	149752472	0.001000	0.12720	0.000000	0.03702	0.614000	0.37383	0.789000	0.26886	0.179000	0.19938	-0.397000	0.06425	CCC		0.637	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		4	25	0	0	0	0	4	25				
CD74	972	broad.mit.edu	37	5	149786873	149786873	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149786873C>T	ENST00000009530.7	-	2	141	c.140G>A	c.(139-141)gGa>gAa	p.G47E	CD74_ENST00000524315.1_Missense_Mutation_p.G47E|CD74_ENST00000353334.6_Missense_Mutation_p.G47E|CD74_ENST00000377795.3_Missense_Mutation_p.G47E			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	47					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACAGGGCTCCGCGGCTGCA	0.617			T	ROS1	NSCLC																																	uc003lsc.2		NA		Dom	yes		5	5q32	972	T	"""CD74 molecule, major histocompatibility complex, class II invariant chain"""			E	ROS1		NSCLC		0				breast(1)	1						c.(139-141)GGA>GAA		CD74 antigen isoform a							39.0	38.0	38.0					5																	149786873		2203	4300	6503	SO:0001583	missense	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149786873C>T		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"""CD molecules"""	1697	protein-coding gene	gene with protein product	"""HLA-DR-gamma"", ""Ia-associated invariant chain"", ""gamma chain of class II antigens"", ""MHC HLA-DR gamma chain"""	142790	"""CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"""	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.140G>A	5.37:g.149786873C>T	ENSP00000009530:p.Gly47Glu					CD74_uc003lsb.2_5'Flank|CD74_uc003lse.2_Missense_Mutation_p.G47E|CD74_uc003lsd.2_Missense_Mutation_p.G47E|CD74_uc003lsf.1_Missense_Mutation_p.G47E	p.G47E	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	151	-		all_hematologic(541;0.224)	47			Helical; Signal-anchor for type II membrane protein; (Potential).		A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Missense_Mutation	SNP	ENST00000009530.7	37	c.140G>A	CCDS47309.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364712	0.61513	.	.	ENSG00000019582	ENST00000377795;ENST00000353334;ENST00000524315;ENST00000009530	T	0.58506	0.33	5.26	5.26	0.73747	MHC class II-associated invariant chain/CLIP, MHC II-interacting (1);	0.096756	0.64402	D	0.000001	T	0.75722	0.3888	M	0.73598	2.24	0.38251	D	0.941603	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.99	T	0.80193	-0.1484	10	0.62326	D	0.03	-11.3507	15.7852	0.78297	0.0:1.0:0.0:0.0	.	47;47;47;47	A9YLN4;P04233-3;P04233-2;P04233	.;.;.;HG2A_HUMAN	E	47	ENSP00000009530:G47E	ENSP00000009530:G47E	G	-	2	0	CD74	149767066	0.990000	0.36364	0.993000	0.49108	0.387000	0.30353	1.805000	0.38883	2.446000	0.82766	0.561000	0.74099	GGA		0.617	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		10	12	0	0	0	0	10	12				
FAT2	2196	broad.mit.edu	37	5	150892006	150892006	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:150892006G>A	ENST00000261800.5	-	20	11637	c.11625C>T	c.(11623-11625)tcC>tcT	p.S3875S	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3875	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACCACAAGGGAGGTGTTGC	0.592																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(11623-11625)TCC>TCT		FAT tumor suppressor 2 precursor							110.0	99.0	102.0					5																	150892006		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150892006G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11625C>T	5.37:g.150892006G>A						GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Intron	p.S3875S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	11638	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3875			Extracellular (Potential).|Laminin G-like.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.11625C>T	CCDS4317.1																																																																																				0.592	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		40	66	0	0	0	0	40	66				
GLRA1	2741	broad.mit.edu	37	5	151235901	151235901	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:151235901G>A	ENST00000455880.2	-	5	806	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	GLRA1_ENST00000274576.4_Missense_Mutation_p.P174S|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.P91S			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	174					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACATCCATGGGGAAATTCTTC	0.502																																						uc003lut.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(520-522)CCC>TCC		glycine receptor, alpha 1 isoform 1 precursor	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						110.0	101.0	104.0					5																	151235901		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151235901G>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.520C>T	5.37:g.151235901G>A	ENSP00000411593:p.Pro174Ser					GLRA1_uc003lur.2_Missense_Mutation_p.P174S|GLRA1_uc003lus.2_Missense_Mutation_p.P91S	p.P174S	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		5	807	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	174			Extracellular (Probable).		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.520C>T	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851016	0.91277	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.98550	-4.99;-4.99;-4.99	4.78	4.78	0.61160	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99462	0.9809	H	0.98738	4.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97962	1.0338	10	0.87932	D	0	.	18.1897	0.89803	0.0:0.0:1.0:0.0	.	174;91;174	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	S	174;174;91	ENSP00000274576:P174S;ENSP00000411593:P174S;ENSP00000445913:P91S	ENSP00000274576:P174S	P	-	1	0	GLRA1	151216094	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.606000	0.98325	2.362000	0.80069	0.585000	0.79938	CCC		0.502	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			8	49	0	0	0	0	8	49				
GRIA1	2890	broad.mit.edu	37	5	153190723	153190723	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:153190723A>G	ENST00000285900.5	+	16	3002	c.2659A>G	c.(2659-2661)Atg>Gtg	p.M887V	GRIA1_ENST00000518142.1_Missense_Mutation_p.M807V|GRIA1_ENST00000340592.5_Missense_Mutation_p.M887V|GRIA1_ENST00000518783.1_Missense_Mutation_p.M897V|GRIA1_ENST00000448073.4_Missense_Mutation_p.M897V|GRIA1_ENST00000521843.2_Missense_Mutation_p.M818V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	887					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCCCAAGTCCATGCAATCGAT	0.622																																						uc003lva.3		NA																	0				ovary(4)|skin(2)	6						c.(2659-2661)ATG>GTG		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						61.0	58.0	59.0					5																	153190723		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190723A>G		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2659A>G	5.37:g.153190723A>G	ENSP00000285900:p.Met887Val					GRIA1_uc003luy.3_Missense_Mutation_p.M887V|GRIA1_uc003luz.3_Missense_Mutation_p.M792V|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.M807V|GRIA1_uc011dcx.1_Missense_Mutation_p.M818V|GRIA1_uc011dcy.1_Missense_Mutation_p.M897V|GRIA1_uc011dcz.1_Missense_Mutation_p.M897V	p.M887V	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	3024	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	887			Cytoplasmic (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2659A>G	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	2.004	-0.428833	0.04701	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.03	5.03	0.67393	.	0.044281	0.85682	D	0.000000	T	0.24547	0.0595	N	0.01109	-1.01	0.45056	D	0.998078	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.001	T	0.34527	-0.9825	10	0.02654	T	1	.	13.9405	0.64052	1.0:0.0:0.0:0.0	.	897;897;807;887;887	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	V	887;887;807;887;820;818;897;897	ENSP00000285900:M887V;ENSP00000427920:M807V;ENSP00000339343:M887V;ENSP00000427864:M820V;ENSP00000442108:M818V;ENSP00000428994:M897V;ENSP00000415569:M897V	ENSP00000285900:M887V	M	+	1	0	GRIA1	153170916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.756000	0.74919	1.888000	0.54679	0.459000	0.35465	ATG		0.622	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			24	20	0	0	0	0	24	20				
HAVCR2	84868	broad.mit.edu	37	5	156533648	156533648	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:156533648G>A	ENST00000307851.4	-	2	1114	c.384C>T	c.(382-384)gtC>gtT	p.V128V	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.V128V|HAVCR2_ENST00000517358.1_5'Flank	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	128						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V128V(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGTTTGATGACCAACTTCA	0.403																																						uc003lwk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(382-384)GTC>GTT		T cell immunoglobulin mucin 3 precursor							92.0	81.0	84.0					5																	156533648		2203	4300	6503	SO:0001819	synonymous_variant	84868					integral to membrane		g.chr5:156533648G>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.384C>T	5.37:g.156533648G>A						HAVCR2_uc003lwl.2_Silent_p.V128V	p.V128V	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	528	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	128			Extracellular (Potential).		B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	c.384C>T	CCDS4333.1																																																																																				0.403	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			17	47	0	0	0	0	17	47				
SOX30	11063	broad.mit.edu	37	5	157065262	157065262	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:157065262G>A	ENST00000265007.6	-	4	2197	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L	SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Missense_Mutation_p.P314L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	619	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGGTCCGGGTAGGAAGTA	0.433																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1855-1857)CCC>CTC		SRY (sex determining region Y)-box 30 isoform a							74.0	74.0	74.0					5																	157065262		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157065262G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1856C>T	5.37:g.157065262G>A	ENSP00000265007:p.Pro619Leu					SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.P314L	p.P619L	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	2198	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	619			Pro-rich.		O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.1856C>T	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137261	0.77775	.	.	ENSG00000039600	ENST00000265007;ENST00000519442	D;D	0.99282	-5.68;-5.62	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000017	D	0.98852	0.9612	L	0.27053	0.805	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99932	1.1329	10	0.87932	D	0	.	17.8137	0.88624	0.0:0.0:1.0:0.0	.	314;619	B4DXW7;O94993	.;SOX30_HUMAN	L	619;314	ENSP00000265007:P619L;ENSP00000427984:P314L	ENSP00000265007:P619L	P	-	2	0	SOX30	156997840	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	6.394000	0.73223	2.642000	0.89623	0.650000	0.86243	CCC		0.433	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		15	30	0	0	0	0	15	30				
ATP10B	23120	broad.mit.edu	37	5	160033861	160033861	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:160033861G>A	ENST00000327245.5	-	19	3917	c.3071C>T	c.(3070-3072)tCc>tTc	p.S1024F		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1024					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACAGGACGGACCGACAATA	0.507																																						uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3070-3072)TCC>TTC		ATPase, class V, type 10B							98.0	102.0	101.0					5																	160033861		2078	4204	6282	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160033861G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3071C>T	5.37:g.160033861G>A	ENSP00000313600:p.Ser1024Phe					ATP10B_uc010jit.1_Missense_Mutation_p.S341F	p.S1024F	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	3918	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1024			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.3071C>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898778	0.91962	.	.	ENSG00000118322	ENST00000327245	D	0.84516	-1.86	5.05	5.05	0.67936	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93598	0.7956	M	0.91818	3.245	0.80722	D	1	D	0.65815	0.995	D	0.66497	0.944	D	0.94860	0.8021	9	.	.	.	.	17.4169	0.87503	0.0:0.0:1.0:0.0	.	1024	O94823	AT10B_HUMAN	F	1024	ENSP00000313600:S1024F	.	S	-	2	0	ATP10B	159966439	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.860000	0.86993	2.344000	0.79699	0.563000	0.77884	TCC		0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		11	86	0	0	0	0	11	86				
GABRA6	2559	broad.mit.edu	37	5	161113294	161113294	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:161113294A>C	ENST00000274545.5	+	2	530	c.97A>C	c.(97-99)Agt>Cgt	p.S33R	GABRA6_ENST00000523217.1_Missense_Mutation_p.S33R|GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	33					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGAAAACGTCAGTCGGATCCT	0.483										TCGA Ovarian(5;0.080)																												uc003lyu.2		NA																	0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(97-99)AGT>CGT		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						112.0	113.0	112.0					5																	161113294		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161113294A>C		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.97A>C	5.37:g.161113294A>C	ENSP00000274545:p.Ser33Arg	TCGA Ovarian(5;0.080)					p.S33R	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	435	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	33			Extracellular (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.97A>C	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.280406	0.80692	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	T;T	0.77750	-1.12;-1.12	5.63	5.63	0.86233	Neurotransmitter-gated ion-channel ligand-binding (3);	0.044841	0.85682	D	0.000000	D	0.82838	0.5124	L	0.59436	1.845	0.42906	D	0.994241	P	0.34699	0.464	P	0.50896	0.653	D	0.84283	0.0495	10	0.87932	D	0	.	11.6013	0.51003	0.8668:0.0:0.0:0.1332	.	33	Q16445	GBRA6_HUMAN	R	33	ENSP00000274545:S33R;ENSP00000430527:S33R	ENSP00000274545:S33R	S	+	1	0	GABRA6	161045872	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	6.902000	0.75699	2.145000	0.66743	0.533000	0.62120	AGT		0.483	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			19	64	0	0	0	0	19	64				
WWC1	23286	broad.mit.edu	37	5	167812284	167812284	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:167812284C>T	ENST00000265293.4	+	3	800	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	WWC1_ENST00000521089.1_Silent_p.L100L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	100					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAAGGATTACCTGGTGGTGGC	0.552																																						uc003lzu.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(298-300)CTG>TTG		WW and C2 domain containing 1 isoform 3							95.0	96.0	96.0					5																	167812284		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167812284C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.298C>T	5.37:g.167812284C>T						WWC1_uc003lzv.2_Silent_p.L100L|WWC1_uc011den.1_Silent_p.L100L	p.L100L	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	3	391	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	100					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.298C>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357266	0.24598	.	.	ENSG00000113645	ENST00000393895	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	T	0.76256	0.3962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74518	-0.3639	4	.	.	.	.	19.6523	0.95822	0.0:1.0:0.0:0.0	.	.	.	.	L	61	.	.	P	+	2	0	WWC1	167744862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.592000	0.82676	2.650000	0.89964	0.561000	0.74099	CCT		0.552	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		10	55	0	0	0	0	10	55				
FAF2	23197	broad.mit.edu	37	5	175933836	175933836	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:175933836C>T	ENST00000261942.6	+	11	1276	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	408	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GCCAATTTTCCCAGGCGAGTG	0.502																																						uc003mej.3		NA																	0				ovary(1)	1						c.(1222-1224)CCC>CTC		UBX domain containing 8							134.0	146.0	142.0					5																	175933836		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175933836C>T	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.1223C>T	5.37:g.175933836C>T	ENSP00000261942:p.Pro408Leu						p.P408L	NM_014613	NP_055428	Q96CS3	FAF2_HUMAN			11	1276	+			408			UBX.		O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.1223C>T	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173189	0.78452	.	.	ENSG00000113194	ENST00000261942	.	.	.	4.89	4.02	0.46733	UBX (2);	0.102601	0.64402	D	0.000002	D	0.83820	0.5337	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87383	0.2358	9	0.87932	D	0	-10.2815	14.6975	0.69132	0.146:0.854:0.0:0.0	.	408	Q96CS3	FAF2_HUMAN	L	408	.	ENSP00000261942:P408L	P	+	2	0	FAF2	175866442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.289000	0.78701	1.257000	0.44085	0.561000	0.74099	CCC		0.502	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		86	132	0	0	0	0	86	132				
ZFP2	80108	broad.mit.edu	37	5	178359013	178359013	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:178359013G>A	ENST00000361362.2	+	5	1229	c.699G>A	c.(697-699)caG>caA	p.Q233Q	ZFP2_ENST00000523286.1_Silent_p.Q233Q|ZFP2_ENST00000503510.2_Silent_p.Q233Q|ZFP2_ENST00000520301.1_Silent_p.Q233Q	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CAGTTCATCAGAGAACTCATA	0.378																																						uc003mjn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(697-699)CAG>CAA		zinc finger protein 2 homolog							50.0	54.0	53.0					5																	178359013		2203	4300	6503	SO:0001819	synonymous_variant	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178359013G>A	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.699G>A	5.37:g.178359013G>A						ZFP2_uc010jky.2_Silent_p.Q233Q|ZFP2_uc010jkx.1_Silent_p.Q233Q	p.Q233Q	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	1208	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	233			C2H2-type 5.		A5PLN5|B7ZM23|Q9H6Z6	Silent	SNP	ENST00000361362.2	37	c.699G>A	CCDS4440.1																																																																																				0.378	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		14	60	0	0	0	0	14	60				
GRM6	2916	broad.mit.edu	37	5	178413884	178413884	+	Silent	SNP	G	G	A	rs149519053		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:178413884G>A	ENST00000517717.1	-	8	1493	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.G485G			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	485					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.G485G(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCTGGTACCCGCCACTGCTGG	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17044	0.0		0.0	False		,,,				2504	0.0					uc003mjr.2		NA																	1	Substitution - coding silent(1)	p.G485G(1)	ovary(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(1453-1455)GGC>GGT		glutamate receptor, metabotropic 6 precursor		G		0,4406		0,0,2203	68.0	56.0	60.0		1455	-2.6	1.0	5	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	GRM6	NM_000843.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		485/878	178413884	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413884G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1455C>T	5.37:g.178413884G>A						GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.G68G|GRM6_uc003mjs.1_Silent_p.G105G	p.G485G	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	7	1634	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	485			Extracellular (Potential).			Silent	SNP	ENST00000517717.1	37	c.1455C>T	CCDS4442.1																																																																																				0.647	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			3	28	0	0	0	0	3	28				
OR2V2	285659	broad.mit.edu	37	5	180582348	180582348	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:180582348C>T	ENST00000328275.1	+	1	406	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATCCCATCCTCATGAATCA	0.512																																						uc011dhj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(406-408)CTC>TTC		olfactory receptor, family 2, subfamily V,							99.0	97.0	98.0					5																	180582348		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582348C>T	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.406C>T	5.37:g.180582348C>T	ENSP00000332185:p.Leu136Phe						p.L136F	NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	406	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	136			Cytoplasmic (Potential).		Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.406C>T	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	9.476	1.096848	0.20552	.	.	ENSG00000182613	ENST00000328275	T	0.32023	1.47	3.27	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31156	N	0.008160	T	0.37100	0.0991	M	0.88906	2.99	0.31907	N	0.615245	B	0.17852	0.024	B	0.19391	0.025	T	0.51841	-0.8654	10	0.72032	D	0.01	.	7.4355	0.27154	0.3934:0.6066:0.0:0.0	.	136	Q96R30	OR2V2_HUMAN	F	136	ENSP00000332185:L136F	ENSP00000332185:L136F	L	+	1	0	OR2V2	180514954	0.000000	0.05858	0.992000	0.48379	0.634000	0.38068	-0.064000	0.11636	1.821000	0.53095	0.305000	0.20034	CTC		0.512	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			41	64	0	0	0	0	41	64				
FAM136BP	387071	broad.mit.edu	37	6	3046027	3046027	+	IGR	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:3046027G>A								RP1-90J20.11 (18368 upstream) : RP1-40E16.2 (10096 downstream)																							TTATCCATTGGGAAATAAAAG	0.403																																						uc011dhr.1		NA																	0					0						c.(409-411)GGG>GAG		hypothetical protein LOC387071							94.0	68.0	76.0					6																	3046027		692	1591	2283	SO:0001628	intergenic_variant	387071							g.chr6:3046027G>A																													6.37:g.3046027G>A							p.G137E	NM_001012983	NP_001013001					1	410	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)							Missense_Mutation	SNP		37	c.410G>A																																																																																				0	0.403									14	19	0	0	0	0	14	19				
LY86	9450	broad.mit.edu	37	6	6589096	6589096	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:6589096G>A	ENST00000379953.2	+	2	481	c.129G>A	c.(127-129)caG>caA	p.Q43Q	LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000447858.1_RNA|LY86_ENST00000230568.4_Silent_p.Q43Q			O95711	LY86_HUMAN	lymphocyte antigen 86	43					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TGCTCTACCAGAGTTGCGGTA	0.582																																						uc003mwy.1		NA																	0					0						c.(127-129)CAG>CAA		MD-1, RP105-associated precursor							79.0	75.0	76.0					6																	6589096		2203	4300	6503	SO:0001819	synonymous_variant	9450				apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		g.chr6:6589096G>A	AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.129G>A	6.37:g.6589096G>A						LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	p.Q43Q	NM_004271	NP_004262	O95711	LY86_HUMAN			1	163	+	Ovarian(93;0.0377)		43					Q9UQC4	Silent	SNP	ENST00000379953.2	37	c.129G>A	CCDS4498.1																																																																																				0.582	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2			15	50	0	0	0	0	15	50				
PHACTR1	221692	broad.mit.edu	37	6	12719057	12719057	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:12719057C>T	ENST00000379350.1	+	2	210	c.81C>T	c.(79-81)ttC>ttT	p.F27F	PHACTR1_ENST00000379348.2_Silent_p.F27F|PHACTR1_ENST00000332995.7_Silent_p.F27F			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	27					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCAAAGATTCTTCTACAGTC	0.383																																						uc010jpc.2		NA																	0					0						c.(79-81)TTC>TTT		phosphatase and actin regulator 1							32.0	29.0	30.0					6																	12719057		1817	4080	5897	SO:0001819	synonymous_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:12719057C>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.81C>T	6.37:g.12719057C>T						PHACTR1_uc011dir.1_Silent_p.F27F|PHACTR1_uc003nag.1_Silent_p.F27F|PHACTR1_uc003nah.1_Silent_p.F27F|PHACTR1_uc003nai.2_Silent_p.F27F	p.F27F	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		3	413	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	27					A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37	c.81C>T																																																																																					0.383	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		4	5	0	0	0	0	4	5				
NUP153	9972	broad.mit.edu	37	6	17675207	17675207	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:17675207G>A	ENST00000262077.2	-	5	780	c.781C>T	c.(781-783)Cct>Tct	p.P261S	NUP153_ENST00000537253.1_Missense_Mutation_p.P261S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	261					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTTTTCCAGGATAAAAAGGA	0.403																																						uc003ncd.1		NA																	0				lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(781-783)CCT>TCT		nucleoporin 153kDa							124.0	117.0	120.0					6																	17675207		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17675207G>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.781C>T	6.37:g.17675207G>A	ENSP00000262077:p.Pro261Ser					NUP153_uc011dje.1_Missense_Mutation_p.P261S|NUP153_uc010jpl.1_Missense_Mutation_p.P261S	p.P261S	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		5	981	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	261					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.781C>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168008	0.94768	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.35789	1.29;1.29	5.74	5.74	0.90152	Nucleoporin, Nup153-like (1);	0.000000	0.52532	D	0.000073	T	0.47544	0.1451	L	0.41236	1.265	0.80722	D	1	D;D;D	0.89917	1.0;0.984;0.991	D;D;D	0.91635	0.999;0.972;0.954	T	0.45862	-0.9232	10	0.72032	D	0.01	-21.5983	19.9326	0.97124	0.0:0.0:1.0:0.0	.	261;283;261	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	S	261;283;261	ENSP00000262077:P261S;ENSP00000444029:P261S	ENSP00000262077:P261S	P	-	1	0	NUP153	17783186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.254000	0.78329	2.720000	0.93068	0.650000	0.86243	CCT		0.403	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			35	50	0	0	0	0	35	50				
MBOAT1	154141	broad.mit.edu	37	6	20109910	20109910	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:20109910C>A	ENST00000324607.7	-	12	1444	c.1280G>T	c.(1279-1281)tGg>tTg	p.W427L	MBOAT1_ENST00000541730.1_Missense_Mutation_p.W278L	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	427					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AGTGACGGCCCAGGTGCCTGC	0.498																																						uc003ncx.1		NA																	0					0						c.(1279-1281)TGG>TTG		membrane bound O-acyltransferase domain							168.0	145.0	153.0					6																	20109910		2203	4300	6503	SO:0001583	missense	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20109910C>A	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1280G>T	6.37:g.20109910C>A	ENSP00000324944:p.Trp427Leu					MBOAT1_uc011dji.1_Missense_Mutation_p.W278L	p.W427L	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		12	1485	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		427			Helical; (Potential).		A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	c.1280G>T	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368819	0.61624	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.19105	2.17;2.61	5.38	5.38	0.77491	.	0.154342	0.64402	D	0.000008	T	0.42607	0.1210	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.966;0.999	T	0.22382	-1.0218	10	0.40728	T	0.16	-14.3417	18.2655	0.90051	0.0:1.0:0.0:0.0	.	278;427	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	L	278;427	ENSP00000441568:W278L;ENSP00000324944:W427L	ENSP00000324944:W427L	W	-	2	0	MBOAT1	20217889	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.554000	0.82212	2.649000	0.89929	0.655000	0.94253	TGG		0.498	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			26	98	1	0	1.64e-13	1.7e-13	26	98				
KIAA0319	9856	broad.mit.edu	37	6	24596343	24596343	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24596343G>A	ENST00000378214.3	-	3	1083	c.559C>T	c.(559-561)Cta>Tta	p.L187L	KIAA0319_ENST00000543707.1_Silent_p.L187L|KIAA0319_ENST00000535378.1_Silent_p.L178L|KIAA0319_ENST00000430948.2_Silent_p.L142L|KIAA0319_ENST00000537886.1_Silent_p.L187L	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	187					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCCGGCAGTAGGCCCCAGTCC	0.617																																						uc011djo.1		NA																	0				ovary(1)|skin(1)	2						c.(559-561)CTA>TTA		KIAA0319 precursor							41.0	41.0	41.0					6																	24596343		2203	4300	6503	SO:0001819	synonymous_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596343G>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.559C>T	6.37:g.24596343G>A						KIAA0319_uc011djp.1_Silent_p.L142L|KIAA0319_uc003neh.1_Silent_p.L187L|KIAA0319_uc011djq.1_Silent_p.L178L|KIAA0319_uc011djr.1_Silent_p.L187L	p.L187L	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			3	796	-			187			Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	c.559C>T	CCDS34348.1																																																																																				0.617	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		7	28	0	0	0	0	7	28				
GMNN	51053	broad.mit.edu	37	6	24781768	24781768	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24781768C>T	ENST00000230056.3	+	4	525	c.193C>T	c.(193-195)Cct>Tct	p.P65S	GMNN_ENST00000356509.3_Missense_Mutation_p.P65S	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	65					mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						AACTTCCAGCCCTGGGGTTAT	0.373																																						uc003nem.2		NA																	0				ovary(1)	1						c.(193-195)CCT>TCT		geminin							50.0	55.0	54.0					6																	24781768		2203	4300	6503	SO:0001583	missense	51053				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding	g.chr6:24781768C>T	AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.193C>T	6.37:g.24781768C>T	ENSP00000230056:p.Pro65Ser					GMNN_uc003nen.2_Missense_Mutation_p.P65S	p.P65S	NM_015895	NP_056979	O75496	GEMI_HUMAN			4	400	+			65					B3KMM8|Q9H1Z1	Missense_Mutation	SNP	ENST00000230056.3	37	c.193C>T	CCDS4560.1	.	.	.	.	.	.	.	.	.	.	C	6.732	0.503802	0.12822	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000476555;ENST00000378059	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	5.49	-6.66	0.01789	.	0.693255	0.15234	N	0.273263	T	0.00412	0.0013	N	0.00138	-2.015	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46105	-0.9215	10	0.09084	T	0.74	-28.1821	0.9442	0.01361	0.1808:0.2963:0.193:0.33	.	65	O75496	GEMI_HUMAN	S	65	ENSP00000348902:P65S;ENSP00000230056:P65S;ENSP00000367293:P65S;ENSP00000419584:P65S;ENSP00000367298:P65S	ENSP00000230056:P65S	P	+	1	0	GMNN	24889747	0.051000	0.20477	0.005000	0.12908	0.932000	0.56968	0.057000	0.14279	-0.557000	0.06126	-0.140000	0.14226	CCT		0.373	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895		10	42	0	0	0	0	10	42				
FAM65B	9750	broad.mit.edu	37	6	24843658	24843659	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24843658_24843659GG>AA	ENST00000259698.4	-	14	1526_1527	c.1351_1352CC>TT	c.(1351-1353)CCt>TTt	p.P451F	FAM65B_ENST00000473070.1_5'Flank|FAM65B_ENST00000538035.1_Missense_Mutation_p.P430F|FAM65B_ENST00000540914.1_Missense_Mutation_p.P401F|FAM65B_ENST00000378023.4_Missense_Mutation_p.P401F|FAM65B_ENST00000510784.2_Missense_Mutation_p.P435F	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	451					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGAGTTGGAAGGGGAGCCTGTT	0.55																																						uc003neo.1		NA																	0				ovary(1)	1						c.(1351-1353)CCT>TTT		hypothetical protein LOC9750 isoform 1																																				SO:0001583	missense	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24843658_24843659GG>AA	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1351_1352delinsAA	6.37:g.24843658_24843659delinsAA	ENSP00000259698:p.Pro451Phe					FAM65B_uc011djs.1_Missense_Mutation_p.P430F|FAM65B_uc011dju.1_Missense_Mutation_p.P435F|FAM65B_uc003nep.2_Missense_Mutation_p.P401F|FAM65B_uc011djt.1_Missense_Mutation_p.P401F	p.P451F	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			14	1527_1528	-			451					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	DNP	ENST00000259698.4	37	c.1351_1352CC>TT	CCDS47383.1																																																																																				0.550	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			10	53	0	0	0	0	10	53				
LRRC16A	55604	broad.mit.edu	37	6	25551232	25551233	+	Missense_Mutation	DNP	CC	CC	TT	rs531644167		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:25551232_25551233CC>TT	ENST00000329474.6	+	27	2791_2792	c.2423_2424CC>TT	c.(2422-2424)aCC>aTT	p.T808I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	808					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CATGCCAGCACCGAAAAGATTT	0.391																																						uc011djw.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(2422-2424)ACC>ATT		leucine rich repeat containing 16A																																				SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25551232_25551233CC>TT	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	Exception_encountered	6.37:g.25551232_25551233delinsTT	ENSP00000331983:p.Thr808Ile					LRRC16A_uc010jpx.2_Missense_Mutation_p.T808I|LRRC16A_uc010jpy.2_Missense_Mutation_p.T808I|LRRC16A_uc003nfa.1_Missense_Mutation_p.T162I	p.T808I	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			27	2799_2800	+			808					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	DNP	ENST00000329474.6	37	c.2423_2424CC>TT	CCDS54973.1																																																																																				0.391	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		55	89	0	0	0	0	55	89				
SLC17A3	10786	broad.mit.edu	37	6	25850331	25850331	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:25850331G>A	ENST00000360657.3	-	8	1119	c.834C>T	c.(832-834)ttC>ttT	p.F278F	SLC17A3_ENST00000361703.6_Silent_p.F278F|SLC17A3_ENST00000397060.4_Silent_p.F356F			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	278					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGGTTAGAAGGAAATCTGCCA	0.398																																						uc003nfi.3		NA																	0					0						c.(832-834)TTC>TTT		solute carrier family 17 (sodium phosphate),							79.0	79.0	79.0					6																	25850331		2203	4300	6503	SO:0001819	synonymous_variant	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25850331G>A	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.834C>T	6.37:g.25850331G>A						SLC17A3_uc003nfk.3_Silent_p.F356F|SLC17A3_uc011djz.1_3'UTR	p.F278F	NM_006632	NP_006623	O00476	NPT4_HUMAN			8	944	-			278					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Silent	SNP	ENST00000360657.3	37	c.834C>T	CCDS4566.2																																																																																				0.398	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			11	53	0	0	0	0	11	53				
HIST1H1A	3024	broad.mit.edu	37	6	26017611	26017611	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:26017611A>G	ENST00000244573.3	-	1	429	c.350T>C	c.(349-351)gTg>gCg	p.V117A		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	117					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CTTGGTTTCCACGGAGGACGC	0.542																																						uc003nfo.2		NA																	0				ovary(2)	2						c.(349-351)GTG>GCG		histone cluster 1, H1a							83.0	89.0	87.0					6																	26017611		2203	4300	6503	SO:0001583	missense	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017611A>G	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.350T>C	6.37:g.26017611A>G	ENSP00000244573:p.Val117Ala						p.V117A	NM_005325	NP_005316	Q02539	H11_HUMAN			1	430	-			117					Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	c.350T>C	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	0.137	-1.106225	0.01828	.	.	ENSG00000124610	ENST00000244573	T	0.08807	3.05	3.36	-2.19	0.07015	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.710450	0.03696	N	0.247841	T	0.00754	0.0025	N	0.04335	-0.225	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.43343	-0.9397	10	0.11182	T	0.66	-9.4063	1.6655	0.02801	0.2647:0.2155:0.3873:0.1326	.	117	Q02539	H11_HUMAN	A	117	ENSP00000244573:V117A	ENSP00000244573:V117A	V	-	2	0	HIST1H1A	26125590	0.000000	0.05858	0.000000	0.03702	0.327000	0.28475	-0.538000	0.06120	-0.667000	0.05303	-0.314000	0.08810	GTG		0.542	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		16	90	0	0	0	0	16	90				
HIST1H3C	8352	broad.mit.edu	37	6	26045858	26045858	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:26045858G>A	ENST00000540144.1	+	1	220	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	74					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CCTGGTGCGAGAAATCGCCCA	0.627																																						uc003nfv.2		NA																	0				ovary(1)	1						c.(220-222)GAA>AAA		histone cluster 1, H3c							51.0	53.0	53.0					6																	26045858		2203	4300	6503	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045858G>A	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.220G>A	6.37:g.26045858G>A	ENSP00000439493:p.Glu74Lys					HIST1H2BB_uc003nfu.2_5'Flank	p.E74K	NM_003531	NP_003522	P68431	H31_HUMAN			1	220	+			74					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.220G>A	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878259	0.51801	.	.	ENSG00000196532	ENST00000540144	T	0.45276	0.9	4.38	4.38	0.52667	.	.	.	.	.	T	0.53899	0.1825	.	.	.	0.46396	D	0.999027	.	.	.	.	.	.	T	0.60949	-0.7161	6	0.87932	D	0	.	16.8064	0.85706	0.0:0.0:1.0:0.0	.	.	.	.	K	74	ENSP00000439493:E74K	ENSP00000439493:E74K	E	+	1	0	HIST1H3C	26153837	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	9.681000	0.98653	2.378000	0.81104	0.491000	0.48974	GAA		0.627	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		23	30	0	0	0	0	23	30				
HIST1H3D	8351	broad.mit.edu	37	6	26197348	26197348	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:26197348G>A	ENST00000356476.2	-	1	130	c.131C>T	c.(130-132)cCc>cTc	p.P44L	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Missense_Mutation_p.P44L			P68431	H31_HUMAN	histone cluster 1, H3d	44					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CACCGTGCCGGGCCGGTAACG	0.657																																					GBM(108;3816 4467)	uc003ngv.2		NA																	0					0						c.(130-132)CCC>CTC		histone cluster 1, H3d							45.0	51.0	49.0					6																	26197348		2203	4298	6501	SO:0001583	missense	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197348G>A	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.131C>T	6.37:g.26197348G>A	ENSP00000366999:p.Pro44Leu					HIST1H2BF_uc003ngx.2_5'Flank	p.P44L	NM_003530	NP_003521	P68431	H31_HUMAN			2	528	-		all_hematologic(11;0.196)	44					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000356476.2	37	c.131C>T	CCDS4590.1	.	.	.	.	.	.	.	.	.	.	.	14.98	2.697792	0.48307	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.47528	0.84;0.84	4.29	4.29	0.51040	.	.	.	.	.	T	0.55641	0.1933	.	.	.	0.52099	D	0.999943	.	.	.	.	.	.	T	0.62364	-0.6870	6	0.66056	D	0.02	.	16.087	0.81065	0.0:0.0:1.0:0.0	.	.	.	.	L	44	ENSP00000366999:P44L;ENSP00000367062:P44L	ENSP00000366999:P44L	P	-	2	0	HIST1H3D	26305327	1.000000	0.71417	0.996000	0.52242	0.084000	0.17831	7.321000	0.79088	2.085000	0.62840	0.655000	0.94253	CCC		0.657	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		5	59	0	0	0	0	5	59				
HIST1H2AM	8336	broad.mit.edu	37	6	27860564	27860564	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:27860564C>T	ENST00000359611.2	-	1	399	c.364G>A	c.(364-366)Gag>Aag	p.E122K	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR|HIST1H3J_ENST00000359303.2_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TGGTGGCTCTCAGTCTTCTTG	0.498																																						uc003nkb.1		NA																	0				ovary(2)	2						c.(364-366)GAG>AAG		histone cluster 1, H2am							126.0	121.0	123.0					6																	27860564		2203	4300	6503	SO:0001583	missense	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860564C>T	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.364G>A	6.37:g.27860564C>T	ENSP00000352627:p.Glu122Lys					HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	p.E122K	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN			1	400	-			122					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	c.364G>A	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775850	0.31411	.	.	ENSG00000233224	ENST00000359611	T	0.40225	1.04	4.15	4.15	0.48705	.	0.000000	0.30483	U	0.009535	T	0.12603	0.0306	N	0.01267	-0.92	0.36580	D	0.873498	.	.	.	.	.	.	T	0.23404	-1.0189	8	0.40728	T	0.16	.	16.2401	0.82402	0.0:1.0:0.0:0.0	.	.	.	.	K	122	ENSP00000352627:E122K	ENSP00000352627:E122K	E	-	1	0	HIST1H2AM	27968543	1.000000	0.71417	0.997000	0.53966	0.203000	0.24098	7.081000	0.76844	2.601000	0.87937	0.655000	0.94253	GAG		0.498	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		23	90	0	0	0	0	23	90				
ZBED9	114821	broad.mit.edu	37	6	28543596	28543596	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:28543596C>T	ENST00000452236.2	-	3	1503	c.886G>A	c.(886-888)Gat>Aat	p.D296N	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CGTATTTTATCTGTTTCCCCA	0.408																																						uc003nlo.2		NA																	0				ovary(1)	1						c.(886-888)GAT>AAT		SCAN domain containing 3							250.0	225.0	234.0					6																	28543596		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543596C>T																												ENST00000452236.2:c.886G>A	6.37:g.28543596C>T	ENSP00000395259:p.Asp296Asn						p.D296N	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	1504	-			296						Missense_Mutation	SNP	ENST00000452236.2	37	c.886G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240575	0.39598	.	.	ENSG00000232040	ENST00000452236	T	0.01446	4.88	2.54	2.54	0.30619	.	.	.	.	.	T	0.02649	0.0080	L	0.56769	1.78	0.25298	N	0.989303	D	0.57571	0.98	D	0.72338	0.977	T	0.50224	-0.8853	9	0.32370	T	0.25	.	8.7473	0.34594	0.0:1.0:0.0:0.0	.	296	Q6R2W3	SCND3_HUMAN	N	296	ENSP00000395259:D296N	ENSP00000395259:D296N	D	-	1	0	SCAND3	28651575	0.717000	0.27966	1.000000	0.80357	0.987000	0.75469	0.786000	0.26844	1.735000	0.51646	0.585000	0.79938	GAT		0.408	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			27	150	0	0	0	0	27	150				
MAS1L	116511	broad.mit.edu	37	6	29454573	29454574	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:29454573_29454574GG>AA	ENST00000377127.3	-	1	1164_1165	c.1106_1107CC>TT	c.(1105-1107)cCC>cTT	p.P369L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	369					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P369P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGTGCTCCCTGGGAAGAAGGTT	0.515																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(7)|lung(2)	9						c.(1105-1107)CCC>CTT		MAS1 oncogene-like																																				SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454573_29454574GG>AA	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.1106_1107delinsAA	6.37:g.29454573_29454574delinsAA	ENSP00000366331:p.Pro369Leu						p.P369L	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	1106_1107	-			369			Cytoplasmic (Potential).		Q5SUN5	Missense_Mutation	DNP	ENST00000377127.3	37	c.1106_1107CC>TT	CCDS4661.1																																																																																				0.515	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		20	81	0	0	0	0	20	81				
OR2H2	7932	broad.mit.edu	37	6	29556101	29556102	+	Missense_Mutation	DNP	CC	CC	TT	rs137936888		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:29556101_29556102CC>TT	ENST00000383640.2	+	1	419_420	c.380_381CC>TT	c.(379-381)cCC>cTT	p.P127L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	127					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GTCTGCCAGCCCCTCCACTATG	0.579																																						uc003nmr.1		NA																	0					0						c.(379-381)CCC>CTT		olfactory receptor, family 2, subfamily H,																																				SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556101_29556102CC>TT		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		Exception_encountered	6.37:g.29556101_29556102delinsTT	ENSP00000373136:p.Pro127Leu					GABBR1_uc003nmp.3_Intron	p.P127L	NM_007160	NP_009091	O95918	OR2H2_HUMAN			1	419_420	+			127			Cytoplasmic (Potential).		Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	DNP	ENST00000383640.2	37	c.380_381CC>TT	CCDS34365.1																																																																																				0.579	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			12	82	0	0	0	0	12	82				
ABCF1	23	broad.mit.edu	37	6	30554047	30554047	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:30554047C>T	ENST00000326195.8	+	18	1962	c.1850C>T	c.(1849-1851)cCc>cTc	p.P617L	MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000376545.3_Missense_Mutation_p.P579L|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	617					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TTTCCAGACCCCCCACCACTC	0.582																																						uc003nql.2		NA																	0				ovary(2)	2						c.(1849-1851)CCC>CTC		ATP-binding cassette, sub-family F, member 1							50.0	53.0	52.0					6																	30554047		2203	4300	6503	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30554047C>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1850C>T	6.37:g.30554047C>T	ENSP00000313603:p.Pro617Leu					ABCF1_uc003nqm.2_Missense_Mutation_p.P579L|ABCF1_uc010jsb.2_Intron	p.P617L	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			18	1945	+			617					A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.1850C>T	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239531	0.58995	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	D;D	0.91631	-2.71;-2.88	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.93288	0.7861	M	0.69185	2.1	0.80722	D	1	D;P	0.58620	0.983;0.901	P;P	0.56788	0.806;0.573	D	0.93120	0.6524	10	0.51188	T	0.08	-17.4163	16.792	0.85591	0.0:1.0:0.0:0.0	.	579;617	Q2L6I2;Q8NE71	.;ABCF1_HUMAN	L	617;579	ENSP00000313603:P617L;ENSP00000365728:P579L	ENSP00000313603:P617L	P	+	2	0	ABCF1	30662026	1.000000	0.71417	0.536000	0.28039	0.094000	0.18550	6.297000	0.72757	2.499000	0.84300	0.555000	0.69702	CCC		0.582	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			10	50	0	0	0	0	10	50				
DHX16	8449	broad.mit.edu	37	6	30627339	30627339	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:30627339G>A	ENST00000376442.3	-	12	2112	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	DHX16_ENST00000376437.5_Silent_p.I158I|DHX16_ENST00000480966.1_5'UTR	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	639	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GGAGCTCCCGGATTTTGGAGC	0.612																																						uc003nqz.2		NA																	0				ovary(2)|kidney(2)	4						c.(1915-1917)ATC>ATT		DEAH (Asp-Glu-Ala-His) box polypeptide 16							37.0	36.0	36.0					6																	30627339		1511	2708	4219	SO:0001819	synonymous_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30627339G>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1917C>T	6.37:g.30627339G>A						DHX16_uc003nqy.2_Silent_p.I158I|DHX16_uc011dmo.1_Silent_p.I579I	p.I639I	NM_003587	NP_003578	O60231	DHX16_HUMAN			12	2129	-			639			Helicase C-terminal.		O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	c.1917C>T	CCDS4685.1																																																																																				0.612	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		8	14	0	0	0	0	8	14				
DDR1	780	broad.mit.edu	37	6	30862381	30862381	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:30862381C>T	ENST00000324771.8	+	13	1994	c.1446C>T	c.(1444-1446)ccC>ccT	p.P482P	DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000452441.1_Silent_p.P482P|DDR1_ENST00000454612.2_Silent_p.P482P|DDR1_ENST00000376567.2_Silent_p.P482P|DDR1_ENST00000513240.1_Silent_p.P482P|DDR1_ENST00000376575.3_Silent_p.P482P|DDR1_ENST00000361741.4_Missense_Mutation_p.P186L|DDR1_ENST00000376570.4_Silent_p.P482P|DDR1_ENST00000418800.2_Silent_p.P482P|DDR1_ENST00000508312.1_Silent_p.P500P|DDR1_ENST00000376569.3_Silent_p.P482P|DDR1_ENST00000376568.3_Silent_p.P482P			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	482	Gly/Pro-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GAGAGCCACCCCCGTACCAGG	0.622																																						uc003nrr.2		NA																	0				lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(1444-1446)CCC>CCT		discoidin domain receptor family, member 1	Imatinib(DB00619)						105.0	101.0	102.0					6																	30862381		2203	4300	6503	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30862381C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1446C>T	6.37:g.30862381C>T						DDR1_uc010jse.2_Silent_p.P482P|DDR1_uc003nrq.2_Silent_p.P482P|DDR1_uc003nrs.2_Silent_p.P482P|DDR1_uc003nrt.2_Silent_p.P482P|DDR1_uc011dms.1_Silent_p.P500P|DDR1_uc003nru.2_Silent_p.P482P|DDR1_uc003nrv.2_Silent_p.P482P|DDR1_uc003nrw.1_Missense_Mutation_p.P254L|DDR1_uc003nry.1_RNA|DDR1_uc003nrx.1_RNA|DDR1_uc003nrz.1_5'Flank	p.P482P	NM_013993	NP_054699	Q08345	DDR1_HUMAN			12	1705	+			482			PPxY motif.|Cytoplasmic (Potential).|Gly/Pro-rich.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.1446C>T	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.57|14.57	2.573565|2.573565	0.45902|0.45902	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000417521;ENST00000361741;ENST00000451954|ENST00000514434	T;T|T	0.79454|0.59224	-1.2;-1.27|0.28	5.2|5.2	4.31|4.31	0.51392|0.51392	.|.	0.127574|0.127574	0.52532|0.52532	D|D	0.000073|0.000073	T|T	0.53786|0.53786	0.1818|0.1818	.|.	.|.	.|.	0.31707|0.31707	N|N	0.640069|0.640069	P|.	0.43477|.	0.808|.	B|.	0.33799|.	0.17|.	T|T	0.59526|0.59526	-0.7438|-0.7438	9|7	0.19590|0.87932	T|D	0.45|0	.|.	13.4362|13.4362	0.61086|0.61086	0.0:0.8412:0.1588:0.0|0.0:0.8412:0.1588:0.0	.|.	251|.	A2ABM8|.	.|.	L|S	251;186;138|11	ENSP00000398682:P251L;ENSP00000354844:P186L|ENSP00000427124:P11S	ENSP00000354844:P186L|ENSP00000427124:P11S	P|P	+|+	2|1	0|0	DDR1|DDR1	30970360|30970360	0.736000|0.736000	0.28164|0.28164	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.016000|0.016000	0.13377|0.13377	1.178000|1.178000	0.42870|0.42870	0.552000|0.552000	0.68991|0.68991	CCC|CCC		0.622	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		31	58	0	0	0	0	31	58				
C6orf15	29113	broad.mit.edu	37	6	31079247	31079247	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31079247G>A	ENST00000259870.3	-	2	892	c.889C>T	c.(889-891)Cct>Tct	p.P297S		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	297	Pro-rich.				extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ACTCCAGGAGGAAATGGGTTA	0.522																																						uc003nsk.1		NA																	0					0						c.(889-891)CCT>TCT		STG protein precursor							46.0	46.0	46.0					6																	31079247		1762	3505	5267	SO:0001583	missense	29113							g.chr6:31079247G>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.889C>T	6.37:g.31079247G>A	ENSP00000259870:p.Pro297Ser						p.P297S	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			2	889	-			297			Pro-rich.		B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	c.889C>T	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568365	0.45798	.	.	ENSG00000204542	ENST00000259870	T	0.12672	2.66	4.38	2.53	0.30540	.	0.143126	0.32533	N	0.005975	T	0.04182	0.0116	L	0.43923	1.385	0.09310	N	1	P	0.41102	0.738	B	0.38562	0.276	T	0.24333	-1.0163	10	0.87932	D	0	-12.9673	5.9209	0.19082	0.1064:0.1948:0.6988:0.0	.	297	Q6UXA7	CF015_HUMAN	S	297	ENSP00000259870:P297S	ENSP00000259870:P297S	P	-	1	0	C6orf15	31187226	0.958000	0.32768	0.020000	0.16555	0.012000	0.07955	2.230000	0.42999	0.556000	0.29098	0.643000	0.83706	CCT		0.522	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		18	51	0	0	0	0	18	51				
HLA-B	3106	broad.mit.edu	37	6	31324148	31324148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31324148G>A	ENST00000412585.2	-	3	443	c.415C>T	c.(415-417)Cag>Tag	p.Q139*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	139	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TAGGCGTACTGGTCATGCCCG	0.701									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2		NA																	0					0						c.(415-417)CAG>TAG		major histocompatibility complex, class I, B							25.0	21.0	22.0					6																	31324148		2076	4181	6257	SO:0001587	stop_gained	3106	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	Familial Cancer Database	;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:31324148G>A	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.415C>T	6.37:g.31324148G>A	ENSP00000399168:p.Gln139*					HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Nonsense_Mutation_p.Q18*|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Nonsense_Mutation_p.Q111*	p.Q139*	NM_005514	NP_005505	P01889	1B07_HUMAN			3	469	-			139			Extracellular (Potential).|Alpha-2.		Q29764	Nonsense_Mutation	SNP	ENST00000412585.2	37	c.415C>T	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	15.96	2.988284	0.53934	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	.	.	.	3.18	2.3	0.28687	.	0.000000	0.34460	U	0.003955	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.5804	0.39484	0.0:0.0:0.7891:0.2109	.	.	.	.	X	139;18;18;150	.	ENSP00000399168:Q139X	Q	-	1	0	HLA-B	31432127	0.998000	0.40836	0.007000	0.13788	0.000000	0.00434	3.169000	0.50809	0.679000	0.31345	-0.898000	0.02899	CAG		0.701	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		4	8	0	0	0	0	4	8				
NEU1	4758	broad.mit.edu	37	6	31829148	31829148	+	Silent	SNP	G	G	A	rs114405905		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31829148G>A	ENST00000375631.4	-	3	561	c.432C>T	c.(430-432)agC>agT	p.S144S		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	144					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	TCTCAACATCGCTCACTACTG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20033	0.0		0.0	False		,,,				2504	0.0					uc003nxq.3		NA																	0				ovary(1)	1						c.(430-432)AGC>AGT		neuraminidase precursor	Oseltamivir(DB00198)|Zanamivir(DB00558)	G		5,3017		0,5,1506	73.0	72.0	72.0		432	2.3	1.0	6	dbSNP_132	72	0,5418		0,0,2709	no	coding-synonymous	NEU1	NM_000434.3		0,5,4215	AA,AG,GG		0.0,0.1655,0.0592		144/416	31829148	5,8435	1511	2709	4220	SO:0001819	synonymous_variant	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31829148G>A	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.432C>T	6.37:g.31829148G>A						NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_5'UTR|NEU1_uc003nxs.3_Silent_p.S144S	p.S144S	NM_000434	NP_000425	Q99519	NEUR1_HUMAN			3	588	-			144						Silent	SNP	ENST00000375631.4	37	c.432C>T	CCDS4723.1																																																																																				0.507	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			11	38	0	0	0	0	11	38				
EHMT2	10919	broad.mit.edu	37	6	31864272	31864272	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31864272G>A	ENST00000375537.4	-	4	356	c.350C>T	c.(349-351)cCc>cTc	p.P117L	EHMT2_ENST00000375528.4_Missense_Mutation_p.P174L|EHMT2_ENST00000395728.3_Missense_Mutation_p.P174L|EHMT2_ENST00000480912.1_5'UTR|C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.P117L	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	117					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGGGAAGAGGGGAATGACTT	0.537																																						uc003nxz.1		NA																	0				ovary(1)	1						c.(349-351)CCC>CTC		euchromatic histone-lysine N-methyltransferase 2							91.0	110.0	103.0					6																	31864272		1507	2708	4215	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31864272G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.350C>T	6.37:g.31864272G>A	ENSP00000364687:p.Pro117Leu					EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Missense_Mutation_p.P174L|EHMT2_uc003nya.1_Missense_Mutation_p.P117L|EHMT2_uc003nyb.1_Missense_Mutation_p.P117L|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank	p.P117L	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			4	360	-			117					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.350C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815654	0.70912	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	3.31	3.31	0.37934	.	0.000000	0.46442	D	0.000296	T	0.22742	0.0549	N	0.08118	0	0.58432	D	0.999994	P;D;P;P	0.71674	0.9;0.998;0.84;0.753	B;D;P;B	0.66351	0.407;0.943;0.535;0.334	T	0.34104	-0.9842	10	0.72032	D	0.01	.	14.5263	0.67892	0.0:0.0:1.0:0.0	.	174;117;117;117	A2ABF8;Q96KQ7-3;Q96KQ7-2;Q96KQ7	.;.;.;EHMT2_HUMAN	L	174;174;117;117	ENSP00000379078:P174L;ENSP00000364678:P174L;ENSP00000364680:P117L;ENSP00000364687:P117L	ENSP00000364678:P174L	P	-	2	0	EHMT2	31972251	1.000000	0.71417	0.994000	0.49952	0.795000	0.44927	4.344000	0.59354	2.148000	0.66965	0.561000	0.74099	CCC		0.537	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		23	101	0	0	0	0	23	101				
CFB	629	broad.mit.edu	37	6	31919771	31919771	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31919771G>A	ENST00000425368.2	+	18	2772	c.2259G>A	c.(2257-2259)aaG>aaA	p.K753K	CFB_ENST00000477310.1_Silent_p.K1104K|CFB_ENST00000556679.1_Silent_p.K1255K|CFB_ENST00000456570.1_Silent_p.K1255K	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	753	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCTGGCTGAAGGAGAAACTCC	0.502																																						uc003nyj.3		NA																	0				skin(1)	1						c.(2257-2259)AAG>AAA		complement factor B preproprotein							259.0	283.0	275.0					6																	31919771		1511	2709	4220	SO:0001819	synonymous_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31919771G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.2259G>A	6.37:g.31919771G>A						CFB_uc011dor.1_Silent_p.K1255K	p.K753K	NM_001710	NP_001701	P00751	CFAB_HUMAN			18	2537	+			753			Peptidase S1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	ENST00000425368.2	37	c.2259G>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	8.367	0.834418	0.16820	.	.	ENSG00000243649	ENST00000483004	.	.	.	5.54	3.78	0.43462	.	.	.	.	.	T	0.46464	0.1394	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43669	-0.9377	4	.	.	.	-26.8133	9.5506	0.39308	0.1624:0.0:0.8376:0.0	.	.	.	.	K	294	.	.	R	+	2	0	CFB	32027750	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.470000	0.35354	0.912000	0.36772	-0.140000	0.14226	AGG		0.502	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		44	242	0	0	0	0	44	242				
TNXB	7148	broad.mit.edu	37	6	32021380	32021380	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:32021380G>A	ENST00000375244.3	-	25	8777	c.8576C>T	c.(8575-8577)tCc>tTc	p.S2859F	TNXB_ENST00000375247.2_Missense_Mutation_p.S2857F			P22105	TENX_HUMAN	tenascin XB	2906	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGCTGAGGGAGTCAGGGGT	0.652																																						uc003nzl.2		NA																	0					0						c.(8569-8571)TCC>TTC		tenascin XB isoform 1 precursor							71.0	80.0	77.0					6																	32021380		1308	2571	3879	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32021380G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8576C>T	6.37:g.32021380G>A	ENSP00000364393:p.Ser2859Phe						p.S2857F	NM_019105	NP_061978	P22105	TENX_HUMAN			25	8772	-			2906			Fibronectin type-III 21.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8570C>T		.	.	.	.	.	.	.	.	.	.	g	14.19	2.460742	0.43736	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.63417	-0.04;-0.04	4.38	4.38	0.52667	.	.	.	.	.	T	0.80929	0.4718	H	0.95504	3.68	0.29693	N	0.840747	D	0.89917	1.0	D	0.91635	0.999	T	0.78745	-0.2084	9	0.87932	D	0	.	13.8698	0.63612	0.0:0.0:1.0:0.0	.	2857	P22105-3	.	F	2859;2857	ENSP00000364393:S2859F;ENSP00000364396:S2857F	ENSP00000364393:S2859F	S	-	2	0	TNXB	32129358	0.993000	0.37304	0.999000	0.59377	0.126000	0.20510	3.251000	0.51453	1.985000	0.57927	0.536000	0.68110	TCC		0.652	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		39	36	0	0	0	0	39	36				
TNXB	7148	broad.mit.edu	37	6	32024532	32024532	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:32024532G>A	ENST00000375244.3	-	23	8175	c.7974C>T	c.(7972-7974)ttC>ttT	p.F2658F	TNXB_ENST00000375247.2_Silent_p.F2658F			P22105	TENX_HUMAN	tenascin XB	2718	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGGACCAGGAAGTGGTCAA	0.647																																						uc003nzl.2		NA																	0					0						c.(7972-7974)TTC>TTT		tenascin XB isoform 1 precursor							57.0	63.0	61.0					6																	32024532		1260	2540	3800	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32024532G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7974C>T	6.37:g.32024532G>A							p.F2658F	NM_019105	NP_061978	P22105	TENX_HUMAN			23	8176	-			2718			Fibronectin type-III 19.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.7974C>T																																																																																					0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		24	35	0	0	0	0	24	35				
COL11A2	1302	broad.mit.edu	37	6	33156965	33156965	+	Splice_Site	SNP	C	C	T	rs532323721		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33156965C>T	ENST00000374708.4	-	3	491	c.233G>A	c.(232-234)gGa>gAa	p.G78E	COL11A2_ENST00000374713.1_Splice_Site_p.G78E|COL11A2_ENST00000395197.1_Splice_Site_p.G78E|COL11A2_ENST00000374714.1_Splice_Site_p.G78E|COL11A2_ENST00000361917.1_Splice_Site_p.G78E|COL11A2_ENST00000357486.1_Splice_Site_p.G78E|COL11A2_ENST00000395194.1_Splice_Site_p.G78E|COL11A2_ENST00000341947.2_Splice_Site_p.G78E|COL11A2_ENST00000374712.1_Splice_Site_p.G78E	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	78	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGAAATCCTCCTAGTAACCG	0.572																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	0				ovary(3)|skin(2)	5						c.(232-234)GGA>GAA		collagen, type XI, alpha 2 isoform 1							34.0	42.0	39.0					6																	33156965		2203	4300	6503	SO:0001630	splice_region_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33156965C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.233-1G>A	6.37:g.33156965C>T						COL11A2_uc003ocy.1_Missense_Mutation_p.G78E|COL11A2_uc003ocz.1_Missense_Mutation_p.G78E|COL11A2_uc003oda.2_Missense_Mutation_p.G78E	p.G78E	NM_080680	NP_542411	P13942	COBA2_HUMAN			3	461	-			78			TSP N-terminal.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.233G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606027	0.66445	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.02050	4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48	3.72	3.72	0.42706	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.157171	0.42420	D	0.000708	T	0.04861	0.0131	L	0.54863	1.705	0.45806	D	0.998689	D;D;D;D	0.89917	1.0;0.996;0.996;0.989	D;P;P;P	0.87578	0.998;0.897;0.897;0.787	T	0.51671	-0.8676	10	0.37606	T	0.19	.	13.7858	0.63108	0.0:1.0:0.0:0.0	.	78;78;78;78	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	E	78	ENSP00000363840:G78E;ENSP00000339915:G78E;ENSP00000350079:G78E;ENSP00000363846:G78E;ENSP00000363845:G78E;ENSP00000378623:G78E;ENSP00000363844:G78E;ENSP00000355123:G78E;ENSP00000405520:G78E;ENSP00000378620:G78E	ENSP00000339915:G78E	G	-	2	0	COL11A2	33264943	0.977000	0.34250	1.000000	0.80357	0.824000	0.46624	1.610000	0.36869	2.354000	0.79902	0.551000	0.68910	GGA		0.572	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		Missense_Mutation	5	18	0	0	0	0	5	18				
VPS52	6293	broad.mit.edu	37	6	33232176	33232176	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33232176C>T	ENST00000445902.2	-	14	1717	c.1499G>A	c.(1498-1500)gGg>gAg	p.G500E	VPS52_ENST00000436044.2_Missense_Mutation_p.G375E|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	500					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATCCAACCCCCCTAGGCGCTG	0.562																																						uc003odm.1		NA																	0				ovary(4)|skin(1)	5						c.(1498-1500)GGG>GAG		vacuolar protein sorting 52							92.0	94.0	94.0					6																	33232176		2203	4300	6503	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33232176C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1499G>A	6.37:g.33232176C>T	ENSP00000409952:p.Gly500Glu					VPS52_uc003odn.1_Missense_Mutation_p.G311E	p.G500E	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			14	1709	-			500					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1499G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716473	0.89205	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.66939	2.045	0.80722	D	1	D;D	0.63046	0.987;0.992	P;D	0.66602	0.905;0.945	T	0.63761	-0.6564	9	0.02654	T	1	-29.8594	16.4032	0.83649	0.0:1.0:0.0:0.0	.	311;500	B3KMF7;Q8N1B4	.;VPS52_HUMAN	E	500;478;375	.	ENSP00000414785:G478E	G	-	2	0	VPS52	33340154	1.000000	0.71417	0.914000	0.36105	0.951000	0.60555	6.481000	0.73608	2.823000	0.97156	0.573000	0.79308	GGG		0.562	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		11	86	0	0	0	0	11	86				
ZBTB22	9278	broad.mit.edu	37	6	33283298	33283298	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33283298C>A	ENST00000431845.2	-	2	1547	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L	TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.V466L|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTACCCGGCACACCCAGGCTC	0.622																																						uc003oeb.2		NA																	0				ovary(1)	1						c.(1396-1398)GTG>TTG		zinc finger and BTB domain containing 22							126.0	140.0	135.0					6																	33283298		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283298C>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1396G>T	6.37:g.33283298C>A	ENSP00000407545:p.Val466Leu					TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.V466L	p.V466L	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	1548	-			466					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1396G>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	0.259	-1.000619	0.02128	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.05649	3.41;3.41	4.22	-2.04	0.07343	.	1.013140	0.07960	N	0.982264	T	0.00906	0.0030	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48536	-0.9027	10	0.10636	T	0.68	.	9.0534	0.36389	0.0:0.4054:0.0:0.5946	.	466	O15209	ZBT22_HUMAN	L	466	ENSP00000404403:V466L;ENSP00000407545:V466L	ENSP00000404403:V466L	V	-	1	0	ZBTB22	33391276	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.926000	0.03988	-0.741000	0.04797	-0.404000	0.06349	GTG		0.622	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			31	173	1	0	1.63e-12	1.68e-12	31	173				
ZBTB22	9278	broad.mit.edu	37	6	33283441	33283441	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33283441G>A	ENST00000431845.2	-	2	1404	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.P418L|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CATGTCCAAGGGAAGGAGCGG	0.617																																						uc003oeb.2		NA																	0				ovary(1)	1						c.(1252-1254)CCC>CTC		zinc finger and BTB domain containing 22							122.0	133.0	129.0					6																	33283441		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283441G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1253C>T	6.37:g.33283441G>A	ENSP00000407545:p.Pro418Leu					TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.P418L	p.P418L	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	1405	-			418					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1253C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970576	0.53614	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.08807	3.05;3.05	4.29	4.29	0.51040	.	0.549202	0.13815	N	0.360848	T	0.12305	0.0299	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.07158	-1.0787	10	0.42905	T	0.14	.	14.2915	0.66281	0.0:0.0:1.0:0.0	.	418	O15209	ZBT22_HUMAN	L	418	ENSP00000404403:P418L;ENSP00000407545:P418L	ENSP00000404403:P418L	P	-	2	0	ZBTB22	33391419	1.000000	0.71417	0.305000	0.25099	0.529000	0.34654	8.820000	0.92003	2.215000	0.71742	0.448000	0.29417	CCC		0.617	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			39	133	0	0	0	0	39	133				
ZBTB22	9278	broad.mit.edu	37	6	33284361	33284361	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33284361G>A	ENST00000431845.2	-	2	484	c.333C>T	c.(331-333)tcC>tcT	p.S111S	TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.S111S|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	111	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CAGTGTAAGCGGAGGCTAGGA	0.557																																						uc003oeb.2		NA																	0				ovary(1)	1						c.(331-333)TCC>TCT		zinc finger and BTB domain containing 22							102.0	104.0	103.0					6																	33284361		2203	4300	6503	SO:0001819	synonymous_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284361G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.333C>T	6.37:g.33284361G>A						TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.S111S	p.S111S	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	485	-			111			BTB.		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.333C>T	CCDS4775.1																																																																																				0.557	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			29	84	0	0	0	0	29	84				
SYNGAP1	8831	broad.mit.edu	37	6	33391298	33391298	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33391298C>T	ENST00000418600.2	+	2	213	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P38S|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	38					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						CGTTCATTCCCCGTATGATCG	0.542																																						uc011dri.1		NA																	0				ovary(4)	4						c.(112-114)CCG>TCG		synaptic Ras GTPase activating protein 1							251.0	217.0	229.0					6																	33391298		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.chr6:33391298C>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.112C>T	6.37:g.33391298C>T	ENSP00000403636:p.Pro38Ser					SYNGAP1_uc003oeo.1_Missense_Mutation_p.P23S|SYNGAP1_uc010juy.2_Missense_Mutation_p.P23S	p.P38S	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			2	307	+			38					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.112C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612820	0.46631	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372	T;T	0.17213	2.29;2.38	3.73	3.73	0.42828	Pleckstrin homology domain (1);	0.324033	0.23633	N	0.046106	T	0.19604	0.0471	L	0.38838	1.175	0.32577	N	0.528992	P;P;B	0.51449	0.909;0.945;0.01	P;D;B	0.67900	0.901;0.954;0.004	T	0.01081	-1.1458	10	0.87932	D	0	.	13.4332	0.61068	0.0:1.0:0.0:0.0	.	38;38;38	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	S	38	ENSP00000293748:P38S;ENSP00000403636:P38S	ENSP00000293748:P38S	P	+	1	0	SYNGAP1	33499276	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.310000	0.59141	2.098000	0.63641	0.555000	0.69702	CCG		0.542	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		38	177	0	0	0	0	38	177				
ITPR3	3710	broad.mit.edu	37	6	33659606	33659606	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33659606G>A	ENST00000374316.5	+	55	8419	c.7359G>A	c.(7357-7359)cgG>cgA	p.R2453R	ITPR3_ENST00000605930.1_Silent_p.R2453R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2453					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCACAGAGCGGGCCTGTGACA	0.612																																						uc011drk.1		NA																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(7357-7359)CGG>CGA		inositol 1,4,5-triphosphate receptor, type 3							200.0	174.0	183.0					6																	33659606		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33659606G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7359G>A	6.37:g.33659606G>A						ITPR3_uc003oey.2_Silent_p.R540R	p.R2453R	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			54	7578	+			2453			Extracellular (Potential).		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.7359G>A	CCDS4783.1																																																																																				0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		31	112	0	0	0	0	31	112				
IP6K3	117283	broad.mit.edu	37	6	33693272	33693272	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33693272C>T	ENST00000293756.4	-	5	1037	c.711G>A	c.(709-711)agG>agA	p.R237R	IP6K3_ENST00000451316.1_Silent_p.R237R	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	237					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GCGCACACTTCCTCATGTGGC	0.637																																						uc010jvf.2		NA																	0					0						c.(709-711)AGG>AGA		inositol hexakisphosphate kinase 3							72.0	63.0	66.0					6																	33693272		2203	4300	6503	SO:0001819	synonymous_variant	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33693272C>T	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.711G>A	6.37:g.33693272C>T						IP6K3_uc003ofb.2_Silent_p.R237R	p.R237R	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN			6	1247	-			237					Q96MQ9	Silent	SNP	ENST00000293756.4	37	c.711G>A	CCDS34435.1																																																																																				0.637	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		4	19	0	0	0	0	4	19				
PACSIN1	29993	broad.mit.edu	37	6	34497235	34497235	+	Missense_Mutation	SNP	G	G	A	rs199650443		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:34497235G>A	ENST00000538621.1	+	5	763	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	PACSIN1_ENST00000244458.2_Missense_Mutation_p.R173Q|PACSIN1_ENST00000374043.2_Missense_Mutation_p.R131Q|PACSIN1_ENST00000486120.1_3'UTR	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	173	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCCATGACACGGGAGATGAAC	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		23437	0.001		0.0	False		,,,				2504	0.0					uc003ojo.2		NA																	0					0						c.(517-519)CGG>CAG		protein kinase C and casein kinase substrate in							117.0	101.0	107.0					6																	34497235		2203	4300	6503	SO:0001583	missense	29993				endocytosis		protein kinase activity	g.chr6:34497235G>A	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.518G>A	6.37:g.34497235G>A	ENSP00000439639:p.Arg173Gln					PACSIN1_uc003ojp.2_Missense_Mutation_p.R173Q	p.R173Q	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			5	724	+			173					Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.518G>A	CCDS4793.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.57	3.421667	0.62622	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.39787	1.06;2.6;1.06	3.83	3.83	0.44106	.	0.125962	0.52532	D	0.000071	T	0.36908	0.0984	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.36212	-0.9757	10	0.02654	T	1	-5.3826	15.9069	0.79436	0.0:0.0:1.0:0.0	.	173	Q9BY11	PACN1_HUMAN	Q	173;131;173;173	ENSP00000244458:R173Q;ENSP00000363155:R131Q;ENSP00000439639:R173Q	ENSP00000244458:R173Q	R	+	2	0	PACSIN1	34605213	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	7.723000	0.84788	2.127000	0.65507	0.557000	0.71058	CGG		0.537	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			8	44	0	0	0	0	8	44				
ARMC12	221481	broad.mit.edu	37	6	35706178	35706178	+	Silent	SNP	G	G	A	rs375466754		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:35706178G>A	ENST00000373866.3	+	3	349	c.327G>A	c.(325-327)acG>acA	p.T109T	ARMC12_ENST00000288065.2_Silent_p.T136T|RP3-510O8.4_ENST00000452048.1_RNA|ARMC12_ENST00000373869.3_Silent_p.T109T			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	109						nucleus (GO:0005634)											CTTGTACTACGGATGACATCG	0.522																																						uc003ola.2		NA																	0				ovary(1)	1						c.(406-408)ACG>ACA		hypothetical protein LOC221481		G		1,4405	2.1+/-5.4	0,1,2202	89.0	77.0	81.0		408	-4.2	0.0	6		81	0,8600		0,0,4300	no	coding-synonymous	C6orf81	NM_145028.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		136/368	35706178	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221481						binding	g.chr6:35706178G>A	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.327G>A	6.37:g.35706178G>A						LOC285847_uc010jvy.1_5'Flank|C6orf81_uc003olb.1_Silent_p.T109T	p.T136T	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN			3	435	+			109			ARM 1.		Q8NEB2|Q96LL8	Silent	SNP	ENST00000373866.3	37	c.408G>A																																																																																					0.522	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		17	56	0	0	0	0	17	56				
BRPF3	27154	broad.mit.edu	37	6	36181743	36181743	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:36181743C>T	ENST00000357641.6	+	8	2822	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S	BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.P857S|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000543502.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	857					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCCGGAGCCCCCTACTCTGAA	0.512																																						uc003olv.3		NA																	0				ovary(1)|skin(1)	2						c.(2569-2571)CCT>TCT		bromodomain and PHD finger containing, 3							43.0	48.0	46.0					6																	36181743		2203	4299	6502	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36181743C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2569C>T	6.37:g.36181743C>T	ENSP00000350267:p.Pro857Ser					BRPF3_uc010jwb.2_Intron|BRPF3_uc011dtj.1_Intron|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Intron	p.P857S	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			8	2793	+			857					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.2569C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585147	0.66105	.	.	ENSG00000096070	ENST00000357641;ENST00000534400;ENST00000394572	T;T	0.26223	2.11;1.75	5.86	5.86	0.93980	.	0.059147	0.64402	D	0.000002	T	0.33556	0.0867	L	0.58583	1.82	0.80722	D	1	D	0.63880	0.993	P	0.55713	0.782	T	0.01162	-1.1432	10	0.46703	T	0.11	.	18.3713	0.90408	0.0:1.0:0.0:0.0	.	857	Q9ULD4	BRPF3_HUMAN	S	857;857;271	ENSP00000350267:P857S;ENSP00000436504:P857S	ENSP00000350267:P857S	P	+	1	0	BRPF3	36289721	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.826000	0.75298	2.777000	0.95525	0.505000	0.49811	CCT		0.512	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		24	77	0	0	0	0	24	77				
PNPLA1	285848	broad.mit.edu	37	6	36275453	36275453	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:36275453G>A	ENST00000394571.2	+	8	1559	c.1559G>A	c.(1558-1560)aGa>aAa	p.R520K	PNPLA1_ENST00000388715.3_Missense_Mutation_p.R425K|PNPLA1_ENST00000312917.5_Missense_Mutation_p.R434K	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	520					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GGCTTCCCAAGACATTCGGGA	0.473																																						uc010jwf.2		NA																	0				large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1558-1560)AGA>AAA		patatin-like phospholipase domain containing 1							98.0	89.0	92.0					6																	36275453		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36275453G>A		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1559G>A	6.37:g.36275453G>A	ENSP00000378072:p.Arg520Lys					PNPLA1_uc003olw.1_Missense_Mutation_p.R425K|PNPLA1_uc010jwe.1_Missense_Mutation_p.R434K	p.R520K	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN			8	1559	+			520					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.1559G>A	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	9.691	1.152022	0.21371	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.35048	1.57;1.57;1.33;1.34	5.46	3.63	0.41609	.	0.126528	0.35495	N	0.003168	T	0.08088	0.0202	N	0.19112	0.55	0.09310	N	1	B;B	0.30851	0.056;0.297	B;B	0.27262	0.019;0.078	T	0.15752	-1.0426	10	0.38643	T	0.18	-4.5919	7.2454	0.26119	0.0879:0.0:0.7455:0.1666	.	520;434	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	K	425;434;521;520	ENSP00000373367:R425K;ENSP00000321116:R434K;ENSP00000391868:R521K;ENSP00000378072:R520K	ENSP00000321116:R434K	R	+	2	0	PNPLA1	36383431	0.019000	0.18553	0.001000	0.08648	0.187000	0.23431	1.421000	0.34815	0.628000	0.30357	0.655000	0.94253	AGA		0.473	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		10	54	0	0	0	0	10	54				
FGD2	221472	broad.mit.edu	37	6	36982748	36982748	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:36982748C>T	ENST00000274963.8	+	8	1134	c.963C>T	c.(961-963)ctC>ctT	p.L321L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	321	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACACCCTGCTCCGTGAGGGCC	0.632																																						uc010jwp.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						c.(961-963)CTC>CTT		FYVE, RhoGEF and PH domain containing 2							78.0	67.0	71.0					6																	36982748		2203	4300	6503	SO:0001819	synonymous_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36982748C>T	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.963C>T	6.37:g.36982748C>T						FGD2_uc003ong.2_Silent_p.L43L|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Silent_p.L127L	p.L321L	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN			8	1134	+			321			PH 1.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.963C>T	CCDS4829.1																																																																																				0.632	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		6	32	0	0	0	0	6	32				
DNAH8	1769	broad.mit.edu	37	6	38790671	38790671	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:38790671C>T	ENST00000359357.3	+	25	3184	c.2930C>T	c.(2929-2931)gCg>gTg	p.A977V	DNAH8_ENST00000441566.1_Missense_Mutation_p.A977V|SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1194V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	977					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCGGGGGTAGCGGAGCACAAG	0.418																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(2929-2931)GCG>GTG		dynein, axonemal, heavy polypeptide 8							60.0	60.0	60.0					6																	38790671		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38790671C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2930C>T	6.37:g.38790671C>T	ENSP00000352312:p.Ala977Val						p.A977V	NM_001371	NP_001362					25	3530	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2930C>T		.	.	.	.	.	.	.	.	.	.	C	14.08	2.427552	0.43122	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25414	1.84;1.83;1.8	5.23	5.23	0.72850	.	0.197444	0.44483	D	0.000457	T	0.18882	0.0453	M	0.71036	2.16	0.42561	D	0.993146	B	0.19935	0.04	B	0.13407	0.009	T	0.02574	-1.1139	10	0.31617	T	0.26	.	17.3592	0.87345	0.0:1.0:0.0:0.0	.	977	Q96JB1	DYH8_HUMAN	V	1182;1182;977;977	ENSP00000333363:A1182V;ENSP00000352312:A977V;ENSP00000402294:A977V	ENSP00000333363:A1182V	A	+	2	0	DNAH8	38898649	0.998000	0.40836	0.760000	0.31359	0.967000	0.64934	3.976000	0.56867	2.601000	0.87937	0.467000	0.42956	GCG		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	34	0	0	0	0	4	34				
GLP1R	2740	broad.mit.edu	37	6	39047475	39047475	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:39047475C>T	ENST00000373256.4	+	11	1222	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	393					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	TCACCTCCTTCCAGGTGACTT	0.547																																						uc003ooj.3		NA																	0				lung(3)|breast(1)|pancreas(1)	5						c.(1177-1179)TTC>TTT		glucagon-like peptide 1 receptor precursor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						76.0	76.0	76.0					6																	39047475		2203	4300	6503	SO:0001819	synonymous_variant	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39047475C>T		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.1179C>T	6.37:g.39047475C>T						GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	p.F393F	NM_002062	NP_002053	P43220	GLP1R_HUMAN			11	1239	+			393			Helical; Name=7; (Potential).		Q2M229|Q99669	Silent	SNP	ENST00000373256.4	37	c.1179C>T	CCDS4839.1																																																																																				0.547	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			14	47	0	0	0	0	14	47				
DAAM2	23500	broad.mit.edu	37	6	39869086	39869086	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:39869086G>T	ENST00000398904.2	+	24	3002	c.2820G>T	c.(2818-2820)aaG>aaT	p.K940N	DAAM2_ENST00000538976.1_Missense_Mutation_p.K939N|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.K940N			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	940	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGTTCGCCAAGGCCTTGATGC	0.572																																						uc003oow.2		NA																	0				ovary(2)|skin(1)	3						c.(2818-2820)AAG>AAT		dishevelled associated activator of							162.0	165.0	164.0					6																	39869086		2074	4210	6284	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39869086G>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2820G>T	6.37:g.39869086G>T	ENSP00000381876:p.Lys940Asn					DAAM2_uc003oox.2_Missense_Mutation_p.K939N	p.K940N	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			24	2976	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		940			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2820G>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998059	0.74818	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.64618	-0.11;-0.11;-0.11	5.5	4.63	0.57726	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.240515	0.41396	D	0.000889	T	0.69314	0.3097	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73380	0.929;0.98	T	0.72077	-0.4399	10	0.46703	T	0.11	.	14.3324	0.66566	0.0726:0.0:0.9274:0.0	.	939;940	G5EA45;Q86T65	.;DAAM2_HUMAN	N	940;940;939	ENSP00000274867:K940N;ENSP00000381876:K940N;ENSP00000437808:K939N	ENSP00000274867:K940N	K	+	3	2	DAAM2	39977064	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.875000	0.56108	1.309000	0.44985	0.655000	0.94253	AAG		0.572	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			44	155	1	0	2.53e-16	2.62e-16	44	155				
PRPH2	5961	broad.mit.edu	37	6	42689888	42689888	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:42689888T>C	ENST00000230381.5	-	1	424	c.185A>G	c.(184-186)aAc>aGc	p.N62S		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	62					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TATCAATGAGTTGGGCACAAA	0.507																																						uc003osk.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(184-186)AAC>AGC		peripherin 2							128.0	101.0	110.0					6																	42689888		2203	4300	6503	SO:0001583	missense	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689888T>C		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.185A>G	6.37:g.42689888T>C	ENSP00000230381:p.Asn62Ser						p.N62S	NM_000322	NP_000313	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	471	-	Colorectal(47;0.196)		62			Helical; (Potential).		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	c.185A>G	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634127	0.87660	.	.	ENSG00000112619	ENST00000230381	T	0.79033	-1.23	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.81711	0.4880	M	0.85197	2.74	0.58432	D	0.999999	P	0.46512	0.879	P	0.53313	0.723	T	0.80870	-0.1189	10	0.23302	T	0.38	.	16.1691	0.81790	0.0:0.0:0.0:1.0	.	62	P23942	PRPH2_HUMAN	S	62	ENSP00000230381:N62S	ENSP00000230381:N62S	N	-	2	0	PRPH2	42797866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.970000	0.88000	2.213000	0.71641	0.533000	0.62120	AAC		0.507	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		23	80	0	0	0	0	23	80				
PTCRA	171558	broad.mit.edu	37	6	42890854	42890854	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:42890854C>T	ENST00000304672.1	+	2	229	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	50					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTGCCTGGTCCTTGATGTTGC	0.602																																						uc003osx.2		NA																	0				ovary(2)	2						c.(148-150)CTT>TTT		pre T-cell antigen receptor alpha precursor							158.0	135.0	143.0					6																	42890854		2203	4300	6503	SO:0001583	missense	171558					integral to membrane	receptor activity	g.chr6:42890854C>T	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.148C>T	6.37:g.42890854C>T	ENSP00000304447:p.Leu50Phe					PTCRA_uc011duz.1_Silent_p.S60S|PTCRA_uc010jxx.1_Intron|PTCRA_uc010jxy.2_Intron|PTCRA_uc010jxz.2_Intron	p.L50F	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	229	+	Colorectal(47;0.196)		50			Extracellular (Potential).		Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	c.148C>T	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755887	0.49362	.	.	ENSG00000171611	ENST00000304672	T	0.58797	0.31	5.84	0.308	0.15815	Immunoglobulin-like fold (1);	0.175425	0.27469	N	0.019233	T	0.22975	0.0555	L	0.36672	1.1	0.45066	D	0.998083	P	0.36768	0.569	B	0.32533	0.147	T	0.03423	-1.1038	10	0.40728	T	0.16	-10.0611	7.4362	0.27156	0.0:0.4647:0.0:0.5353	.	50	Q6ISU1	PTCRA_HUMAN	F	50	ENSP00000304447:L50F	ENSP00000304447:L50F	L	+	1	0	PTCRA	42998832	0.008000	0.16893	0.730000	0.30809	0.886000	0.51366	-0.176000	0.09811	0.097000	0.17492	0.650000	0.86243	CTT		0.602	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		27	55	0	0	0	0	27	55				
ABCC10	89845	broad.mit.edu	37	6	43406424	43406424	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:43406424C>T	ENST00000372530.4	+	8	2233	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L	ABCC10_ENST00000244533.3_Missense_Mutation_p.P645L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	673	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	ACCCAGGAACCCTGGATCCAG	0.582																																						uc003ouy.1		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(2017-2019)CCC>CTC		ATP-binding cassette, sub-family C, member 10							109.0	102.0	104.0					6																	43406424		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43406424C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2018C>T	6.37:g.43406424C>T	ENSP00000361608:p.Pro673Leu					ABCC10_uc003ouz.1_Missense_Mutation_p.P645L|ABCC10_uc010jyo.1_5'UTR	p.P673L	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		8	2233	+	all_lung(25;0.00536)		673			ABC transporter 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.2018C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	35	5.429230	0.96131	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.93953	-3.32;-3.32;-3.32	5.61	5.61	0.85477	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.962	D	0.97032	0.9751	10	0.87932	D	0	-32.6303	19.6435	0.95767	0.0:1.0:0.0:0.0	.	645;673	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	L	229;673;645	ENSP00000361593:P229L;ENSP00000361608:P673L;ENSP00000244533:P645L	ENSP00000244533:P645L	P	+	2	0	ABCC10	43514402	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.767000	0.85331	2.640000	0.89533	0.655000	0.94253	CCC		0.582	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		40	41	0	0	0	0	40	41				
LRRC73	221424	broad.mit.edu	37	6	43475211	43475211	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:43475211G>A	ENST00000372441.1	-	5	1763	c.863C>T	c.(862-864)tCc>tTc	p.S288F		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	288																	GCACATCCAGGAGCTGCTGCC	0.637																																						uc003ovk.1		NA																	0					0						c.(862-864)TCC>TTC		hypothetical protein LOC221424							32.0	37.0	35.0					6																	43475211		2203	4300	6503	SO:0001583	missense	221424							g.chr6:43475211G>A		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.863C>T	6.37:g.43475211G>A	ENSP00000361518:p.Ser288Phe					C6orf154_uc003ovj.1_Missense_Mutation_p.S97F	p.S288F	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		5	1764	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		288						Missense_Mutation	SNP	ENST00000372441.1	37	c.863C>T	CCDS34456.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705952	0.48412	.	.	ENSG00000204052	ENST00000372441	T	0.36878	1.23	5.79	5.79	0.91817	.	0.401756	0.26424	N	0.024443	T	0.18718	0.0449	N	0.22421	0.69	0.46927	D	0.99925	P	0.47350	0.894	B	0.38562	0.276	T	0.03706	-1.1011	10	0.59425	D	0.04	-11.1353	20.0263	0.97523	0.0:0.0:1.0:0.0	.	288	Q5JTD7	CF154_HUMAN	F	288	ENSP00000361518:S288F	ENSP00000361518:S288F	S	-	2	0	C6orf154	43583189	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.250000	0.72435	2.735000	0.93741	0.655000	0.94253	TCC		0.637	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		4	36	0	0	0	0	4	36				
AARS2	57505	broad.mit.edu	37	6	44273502	44273502	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:44273502G>C	ENST00000244571.4	-	10	1324	c.1322C>G	c.(1321-1323)tCa>tGa	p.S441*	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCACACAGTGACAAGGACCA	0.542																																						uc010jza.1		NA																	0				ovary(1)	1						c.(1321-1323)TCA>TGA		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						109.0	110.0	109.0					6																	44273502		2203	4300	6503	SO:0001587	stop_gained	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44273502G>C	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1322C>G	6.37:g.44273502G>C	ENSP00000244571:p.Ser441*					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.S441*	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1325	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		441						Nonsense_Mutation	SNP	ENST00000244571.4	37	c.1322C>G	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232932	0.79688	.	.	ENSG00000124608	ENST00000244571	.	.	.	4.62	4.62	0.57501	.	0.178665	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.2994	12.824	0.57708	0.0:0.0:1.0:0.0	.	.	.	.	X	441	.	ENSP00000244571:S441X	S	-	2	0	AARS2	44381480	1.000000	0.71417	0.937000	0.37676	0.419000	0.31324	4.235000	0.58666	2.395000	0.81488	0.655000	0.94253	TCA		0.542	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		22	95	0	0	0	0	22	95				
SPATS1	221409	broad.mit.edu	37	6	44320587	44320587	+	Silent	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:44320587C>G	ENST00000288390.2	+	2	611	c.264C>G	c.(262-264)ctC>ctG	p.L88L	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Silent_p.L88L			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	88										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCCTGGCCTCCCCAGAGTGT	0.507																																						uc003oxk.2		NA																	0				skin(1)	1						c.(262-264)CTC>CTG		spermatogenesis associated, serine-rich 1							83.0	74.0	77.0					6																	44320587		2203	4300	6503	SO:0001819	synonymous_variant	221409							g.chr6:44320587C>G	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.264C>G	6.37:g.44320587C>G						SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_5'UTR	p.L88L	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	611	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		88					Q496A2|Q496A5|Q96LJ0	Silent	SNP	ENST00000288390.2	37	c.264C>G	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	C	9.003	0.980468	0.18812	.	.	ENSG00000249481	ENST00000515220	.	.	.	3.92	-0.00186	0.14032	.	.	.	.	.	T	0.09247	0.0228	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35076	-0.9803	4	.	.	.	.	4.0873	0.09953	0.0:0.526:0.1761:0.2979	.	.	.	.	C	122	.	.	S	+	2	0	SPATS1	44428565	0.000000	0.05858	0.000000	0.03702	0.643000	0.38383	-0.556000	0.05992	-0.023000	0.13963	0.655000	0.94253	TCC		0.507	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		8	55	0	0	0	0	8	55				
RCAN2	10231	broad.mit.edu	37	6	46191013	46191013	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:46191013C>T	ENST00000330430.6	-	4	647	c.459G>A	c.(457-459)ggG>ggA	p.G153G	RCAN2_ENST00000371374.1_Silent_p.G199G|RCAN2_ENST00000306764.7_Silent_p.G199G|RCAN2_ENST00000405162.1_Silent_p.G199G	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	153					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGGACTCAGTCCCTGCATGGA	0.498																																						uc003oyb.1		NA																	0					0						c.(457-459)GGG>GGA		Down syndrome critical region gene 1-like 1							153.0	158.0	156.0					6																	46191013		1946	4138	6084	SO:0001819	synonymous_variant	10231				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr6:46191013C>T	D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.459G>A	6.37:g.46191013C>T						RCAN2_uc003oyc.1_Silent_p.G199G|RCAN2_uc003oyd.1_Silent_p.G199G	p.G153G	NM_005822	NP_005813	Q14206	RCAN2_HUMAN			4	774	-			153					A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Silent	SNP	ENST00000330430.6	37	c.459G>A	CCDS43469.1																																																																																				0.498	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1			27	104	0	0	0	0	27	104				
GPR110	266977	broad.mit.edu	37	6	46993686	46993686	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:46993686C>T	ENST00000371253.2	-	4	396	c.181G>A	c.(181-183)Gag>Aag	p.E61K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.E61K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	61					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCTCTTTTCTCCTTGGAATCT	0.413																																						uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(181-183)GAG>AAG		G-protein coupled receptor 110 isoform 1							79.0	81.0	80.0					6																	46993686		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46993686C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.181G>A	6.37:g.46993686C>T	ENSP00000360299:p.Glu61Lys					GPR110_uc011dwl.1_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.E61K	p.E61K	NM_153840	NP_722582	Q5T601	GP110_HUMAN			4	380	-			61			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.181G>A	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742497	0.69418	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	T	0.34667	1.35	6.01	6.01	0.97437	.	0.096624	0.45126	D	0.000385	T	0.49898	0.1584	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.952	T	0.33650	-0.9860	10	0.37606	T	0.19	-10.657	16.0212	0.80493	0.0:1.0:0.0:0.0	.	61;61	Q5T601-2;Q5T601	.;GP110_HUMAN	K	61	ENSP00000360299:E61K	ENSP00000360289:E61K	E	-	1	0	GPR110	47101645	0.652000	0.27349	0.963000	0.40424	0.428000	0.31595	0.894000	0.28350	2.861000	0.98227	0.650000	0.86243	GAG		0.413	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		20	82	0	0	0	0	20	82				
TNFRSF21	27242	broad.mit.edu	37	6	47253704	47253704	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:47253704G>A	ENST00000296861.2	-	2	1117	c.724C>T	c.(724-726)Cct>Tct	p.P242S		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	242					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GTGGAGGAAGGGACTTCATGG	0.512																																						uc003oyv.2		NA																	0					0						c.(724-726)CCT>TCT		tumor necrosis factor receptor superfamily,							85.0	73.0	77.0					6																	47253704		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253704G>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.724C>T	6.37:g.47253704G>A	ENSP00000296861:p.Pro242Ser						p.P242S	NM_014452	NP_055267	O75509	TNR21_HUMAN	Lung(136;0.189)		2	1157	-			242			Extracellular (Potential).		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.724C>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156732	0.38119	.	.	ENSG00000146072	ENST00000296861	T	0.63744	-0.06	5.52	4.63	0.57726	.	0.281549	0.40728	N	0.001022	T	0.37705	0.1013	L	0.56769	1.78	0.33691	D	0.613355	B	0.31485	0.325	B	0.22753	0.041	T	0.47873	-0.9083	10	0.66056	D	0.02	.	8.6854	0.34234	0.0762:0.0:0.7722:0.1516	.	242	O75509	TNR21_HUMAN	S	242	ENSP00000296861:P242S	ENSP00000296861:P242S	P	-	1	0	TNFRSF21	47361663	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.168000	0.50801	1.433000	0.47394	0.591000	0.81541	CCT		0.512	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		5	44	0	0	0	0	5	44				
PKHD1	5314	broad.mit.edu	37	6	51944732	51944732	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:51944732G>A	ENST00000371117.3	-	5	631	c.356C>T	c.(355-357)cCa>cTa	p.P119L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P119L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	119					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCTGGATTTGGACTGCTTAC	0.473																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(355-357)CCA>CTA		fibrocystin isoform 1							233.0	197.0	209.0					6																	51944732		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51944732G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.356C>T	6.37:g.51944732G>A	ENSP00000360158:p.Pro119Leu					PKHD1_uc003pai.2_Missense_Mutation_p.P119L	p.P119L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			5	632	-	Lung NSC(77;0.0605)		119			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.356C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	5.000	0.185744	0.09495	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86627	-1.94;-2.15	5.08	-1.99	0.07457	.	0.858206	0.09963	N	0.733207	T	0.59459	0.2195	L	0.43152	1.355	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.002	T	0.40664	-0.9551	10	0.23891	T	0.37	.	1.5115	0.02496	0.4672:0.1475:0.235:0.1503	.	119;119	P08F94-2;P08F94	.;PKHD1_HUMAN	L	119	ENSP00000360158:P119L;ENSP00000341097:P119L	ENSP00000341097:P119L	P	-	2	0	PKHD1	52052691	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	0.260000	0.18424	-0.080000	0.12685	-0.793000	0.03317	CCA		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		33	166	0	0	0	0	33	166				
PKHD1	5314	broad.mit.edu	37	6	51947307	51947307	+	Missense_Mutation	SNP	C	C	T	rs148070358		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:51947307C>T	ENST00000371117.3	-	4	439	c.164G>A	c.(163-165)gGc>gAc	p.G55D	PKHD1_ENST00000340994.4_Missense_Mutation_p.G55D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	55	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAATTGAGAGCCATTGTTGGG	0.478																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(163-165)GGC>GAC		fibrocystin isoform 1							128.0	131.0	130.0					6																	51947307		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51947307C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.164G>A	6.37:g.51947307C>T	ENSP00000360158:p.Gly55Asp					PKHD1_uc003pai.2_Missense_Mutation_p.G55D	p.G55D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			4	440	-	Lung NSC(77;0.0605)		55			Extracellular (Potential).|IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.164G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954657	0.73902	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87412	-2.05;-2.25	5.56	4.67	0.58626	.	0.081184	0.51477	D	0.000094	D	0.90154	0.6923	M	0.65498	2.005	0.35344	D	0.786744	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	D	0.91807	0.5456	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.8452:0.1548:0.0	.	55;55	P08F94-2;P08F94	.;PKHD1_HUMAN	D	55	ENSP00000360158:G55D;ENSP00000341097:G55D	ENSP00000341097:G55D	G	-	2	0	PKHD1	52055266	0.993000	0.37304	1.000000	0.80357	0.953000	0.61014	2.610000	0.46325	1.441000	0.47550	0.563000	0.77884	GGC		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		11	60	0	0	0	0	11	60				
GSTA5	221357	broad.mit.edu	37	6	52701147	52701147	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:52701147C>T	ENST00000370989.2	-	3	188	c.159G>A	c.(157-159)caG>caA	p.Q53Q	GSTA5_ENST00000284562.2_Silent_p.Q53Q|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	53	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTGGTACTTGCTGGAACAGCA	0.403																																						uc003pba.1		NA																	0				ovary(1)	1						c.(157-159)CAG>CAA		glutathione S-transferase alpha 5	Glutathione(DB00143)						98.0	98.0	98.0					6																	52701147		2203	4300	6503	SO:0001819	synonymous_variant	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52701147C>T	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.159G>A	6.37:g.52701147C>T							p.Q53Q	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			4	229	-	Lung NSC(77;0.0912)		53			GST N-terminal.		Q5SZC2	Silent	SNP	ENST00000370989.2	37	c.159G>A	CCDS4946.1																																																																																				0.403	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		26	90	0	0	0	0	26	90				
ICK	22858	broad.mit.edu	37	6	52878665	52878665	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:52878665T>A	ENST00000350082.5	-	9	1293	c.947A>T	c.(946-948)tAt>tTt	p.Y316F	ICK_ENST00000356971.3_Missense_Mutation_p.Y316F	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	316					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TGGCTTAATATAAGGAGGTGG	0.532																																						uc003pbh.2		NA																	0				ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(946-948)TAT>TTT		intestinal cell kinase							140.0	117.0	125.0					6																	52878665		2203	4300	6503	SO:0001583	missense	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52878665T>A	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.947A>T	6.37:g.52878665T>A	ENSP00000263043:p.Tyr316Phe					ICK_uc003pbi.2_Missense_Mutation_p.Y316F	p.Y316F	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN			10	1437	-	Lung NSC(77;0.103)		316					A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	c.947A>T	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	T	8.385	0.838432	0.16891	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.71461	-0.57;-0.57	6.06	4.88	0.63580	.	0.523104	0.21644	N	0.071290	T	0.25644	0.0624	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12016	-1.0564	10	0.09843	T	0.71	-5.7039	12.6634	0.56826	0.1239:0.0:0.0:0.8761	.	316	Q9UPZ9	ICK_HUMAN	F	316	ENSP00000263043:Y316F;ENSP00000349458:Y316F	ENSP00000263043:Y316F	Y	-	2	0	ICK	52986624	1.000000	0.71417	0.068000	0.19968	0.942000	0.58702	2.627000	0.46469	1.087000	0.41251	0.533000	0.62120	TAT		0.532	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		13	35	0	0	0	0	13	35				
HMGCLL1	54511	broad.mit.edu	37	6	55381343	55381343	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:55381343G>A	ENST00000398661.2	-	5	577	c.446C>T	c.(445-447)cCt>cTt	p.P149L	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P119L|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000428842.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	149					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGTAAGGACAGGATAGCGAAC	0.338																																					Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(445-447)CCT>CTT		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							124.0	129.0	128.0					6																	55381343		1862	4110	5972	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55381343G>A	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.446C>T	6.37:g.55381343G>A	ENSP00000381654:p.Pro149Leu					HMGCLL1_uc003pco.2_Missense_Mutation_p.P119L|HMGCLL1_uc010jzx.2_Missense_Mutation_p.P20L|HMGCLL1_uc011dxc.1_Intron|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Intron	p.P149L	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	605	-	Lung NSC(77;0.0875)		149					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.446C>T	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057319	0.93846	.	.	ENSG00000146151	ENST00000274901;ENST00000398661	D;D	0.97959	-4.63;-4.63	5.34	5.34	0.76211	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.111853	0.64402	D	0.000007	D	0.98504	0.9501	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.99860	1.1082	10	0.87932	D	0	-12.2361	19.0404	0.92997	0.0:0.0:1.0:0.0	.	119;149	Q8TB92-2;Q8TB92	.;HMGC2_HUMAN	L	119;149	ENSP00000274901:P119L;ENSP00000381654:P149L	ENSP00000274901:P119L	P	-	2	0	HMGCLL1	55489302	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.779000	0.99018	2.507000	0.84556	0.467000	0.42956	CCT		0.338	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		37	50	0	0	0	0	37	50				
COL21A1	81578	broad.mit.edu	37	6	56033060	56033060	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56033060G>A	ENST00000244728.5	-	6	1459	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	COL21A1_ENST00000370819.1_Silent_p.L354L|COL21A1_ENST00000535941.1_Silent_p.L354L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	354	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGTTACTAAGAGACGAATTT	0.358																																						uc003pcs.2		NA																	0				ovary(2)	2						c.(1060-1062)CTC>CTT		collagen, type XXI, alpha 1 precursor							61.0	54.0	56.0					6																	56033060		1832	4091	5923	SO:0001819	synonymous_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56033060G>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1062C>T	6.37:g.56033060G>A						COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Silent_p.L354L|COL21A1_uc003pcu.1_Silent_p.L354L	p.L354L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		6	1294	-	Lung NSC(77;0.0483)		354			TSP N-terminal.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	c.1062C>T	CCDS55025.1																																																																																				0.358	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			4	14	0	0	0	0	4	14				
DST	667	broad.mit.edu	37	6	56457058	56457058	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56457058C>T	ENST00000361203.3	-	45	12199	c.12192G>A	c.(12190-12192)gaG>gaA	p.E4064E	DST_ENST00000370769.4_Silent_p.E4066E|DST_ENST00000370788.2_Silent_p.E1978E|DST_ENST00000421834.2_Silent_p.E1978E|DST_ENST00000370754.5_Silent_p.E4244E|DST_ENST00000446842.2_Silent_p.E3740E|DST_ENST00000244364.6_Silent_p.E1652E|DST_ENST00000312431.6_Silent_p.E4064E			Q03001	DYST_HUMAN	dystonin	4064					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCGCTGTGGCCTCACAGGCCT	0.428																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(6466-6468)GAG>GAA		dystonin isoform 2							83.0	82.0	82.0					6																	56457058		1894	4116	6010	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56457058C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12192G>A	6.37:g.56457058C>T						DST_uc003pcz.3_Silent_p.E1978E|DST_uc011dxj.1_Silent_p.E2007E|DST_uc011dxk.1_Silent_p.E2018E|DST_uc003pcy.3_Silent_p.E1652E|DST_uc010kaa.1_RNA	p.E2156E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		43	6496	-	Lung NSC(77;0.103)		4064					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.6468G>A																																																																																					0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		3	23	0	0	0	0	3	23				
DST	667	broad.mit.edu	37	6	56504804	56504804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56504804G>A	ENST00000361203.3	-	15	1916	c.1909C>T	c.(1909-1911)Cat>Tat	p.H637Y	DST_ENST00000370769.4_Missense_Mutation_p.H637Y|DST_ENST00000370788.2_Missense_Mutation_p.H637Y|DST_ENST00000421834.2_Missense_Mutation_p.H637Y|DST_ENST00000370765.6_Missense_Mutation_p.H311Y|DST_ENST00000370754.5_Missense_Mutation_p.H815Y|DST_ENST00000446842.2_Missense_Mutation_p.H311Y|DST_ENST00000244364.6_Missense_Mutation_p.H311Y|DST_ENST00000312431.6_Missense_Mutation_p.H637Y|DST_ENST00000518935.1_Missense_Mutation_p.H311Y			Q03001	DYST_HUMAN	dystonin	637					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTCTAAATGGCTTTCAACA	0.313																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(2443-2445)CAT>TAT		dystonin isoform 2							59.0	64.0	62.0					6																	56504804		2202	4300	6502	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56504804G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1909C>T	6.37:g.56504804G>A	ENSP00000354508:p.His637Tyr					DST_uc003pcz.3_Missense_Mutation_p.H637Y|DST_uc011dxj.1_Missense_Mutation_p.H666Y|DST_uc011dxk.1_Missense_Mutation_p.H677Y|DST_uc011dxl.1_Missense_Mutation_p.H666Y|DST_uc003pcy.3_Missense_Mutation_p.H311Y|DST_uc003pdb.2_Missense_Mutation_p.H311Y|DST_uc003pdc.3_Missense_Mutation_p.H311Y|DST_uc003pdd.3_Missense_Mutation_p.H311Y|DST_uc003pde.2_Missense_Mutation_p.H753Y	p.H815Y	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		18	2471	-	Lung NSC(77;0.103)		637					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2443C>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.097423	0.76870	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.45	5.45	0.79879	.	0.000000	0.51477	D	0.000098	D	0.93926	0.8056	L	0.59436	1.845	0.31710	N	0.639627	D;P;D;P;D;B;D;D;P;P	0.71674	0.974;0.637;0.995;0.758;0.996;0.35;0.992;0.998;0.637;0.946	P;P;D;P;P;B;D;D;P;P	0.74023	0.655;0.465;0.982;0.465;0.9;0.093;0.948;0.979;0.465;0.751	D	0.90674	0.4600	9	0.21540	T	0.41	.	19.4735	0.94973	0.0:0.0:1.0:0.0	.	666;637;637;815;753;311;311;311;637;311	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	Y	311;815;637;637;311;637;637;637;311;677;311;311	ENSP00000244364:H311Y;ENSP00000359790:H815Y;ENSP00000359805:H637Y;ENSP00000400883:H637Y;ENSP00000393645:H311Y;ENSP00000307959:H637Y;ENSP00000359824:H637Y;ENSP00000354508:H637Y;ENSP00000404924:H311Y;ENSP00000431030:H677Y;ENSP00000359801:H311Y;ENSP00000431003:H311Y	ENSP00000244364:H311Y	H	-	1	0	DST	56612763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.335000	0.59298	2.836000	0.97738	0.655000	0.94253	CAT		0.313	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		18	70	0	0	0	0	18	70				
PRIM2	5558	broad.mit.edu	37	6	57398275	57398275	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:57398275C>T	ENST00000607273.1	+	10	1065	c.978C>T	c.(976-978)ttC>ttT	p.F326F	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	326					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CATTGCAGTTCTGGAAGCAAG	0.378																																						uc003pdx.2		NA																	0					0						c.(976-978)TTC>TTT		DNA primase polypeptide 2							170.0	158.0	162.0					6																	57398275		1929	4141	6070	SO:0001819	synonymous_variant	5558				DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57398275C>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.978C>T	6.37:g.57398275C>T							p.F326F	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	10	1065	+			326					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000607273.1	37	c.978C>T																																																																																					0.378	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		21	170	0	0	0	0	21	170				
COL19A1	1310	broad.mit.edu	37	6	70881893	70881893	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:70881893G>A	ENST00000322773.4	+	41	2708	c.2606G>A	c.(2605-2607)gGa>gAa	p.G869E	COL19A1_ENST00000393344.1_Missense_Mutation_p.G491E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	869	Collagen-like 9.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGATTAGAAGGATTTCCAGGT	0.358																																						uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(2605-2607)GGA>GAA		alpha 1 type XIX collagen precursor							106.0	109.0	108.0					6																	70881893		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70881893G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2606G>A	6.37:g.70881893G>A	ENSP00000316030:p.Gly869Glu						p.G869E	NM_001858	NP_001849	Q14993	COJA1_HUMAN			41	2723	+			869			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2606G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641713	0.67244	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99353	-5.52;-5.77	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97250	0.9897	10	0.87932	D	0	.	18.8014	0.92018	0.0:0.0:1.0:0.0	.	869	Q14993	COJA1_HUMAN	E	869;491	ENSP00000316030:G869E;ENSP00000377013:G491E	ENSP00000316030:G869E	G	+	2	0	COL19A1	70938614	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.567000	0.82357	2.882000	0.98803	0.655000	0.94253	GGA		0.358	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			10	57	0	0	0	0	10	57				
RIMS1	22999	broad.mit.edu	37	6	72961047	72961047	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:72961047G>A	ENST00000521978.1	+	15	2674	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	RIMS1_ENST00000517960.1_Missense_Mutation_p.E892K|RIMS1_ENST00000523963.1_Missense_Mutation_p.E366K|RIMS1_ENST00000401910.3_Missense_Mutation_p.E366K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E892K|RIMS1_ENST00000517827.1_Missense_Mutation_p.E351K|RIMS1_ENST00000425662.2_Missense_Mutation_p.E285K|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000522291.1_Missense_Mutation_p.E892K|RIMS1_ENST00000264839.7_Missense_Mutation_p.E892K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E892K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E892K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E892K	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	892					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TATTCATGGAGAAAGCTCTAG	0.383																																						uc003pga.2		NA																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(2674-2676)GAA>AAA		regulating synaptic membrane exocytosis 1							43.0	39.0	41.0					6																	72961047		1946	4177	6123	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72961047G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2674G>A	6.37:g.72961047G>A	ENSP00000428417:p.Glu892Lys					RIMS1_uc011dyb.1_Missense_Mutation_p.E518K|RIMS1_uc003pgc.2_Missense_Mutation_p.E518K|RIMS1_uc010kaq.2_Missense_Mutation_p.E366K|RIMS1_uc011dyc.1_Missense_Mutation_p.E366K|RIMS1_uc010kar.2_Missense_Mutation_p.E285K|RIMS1_uc011dyd.1_Missense_Mutation_p.E351K|RIMS1_uc003pgf.2_Missense_Mutation_p.E109K|RIMS1_uc003pgg.2_Missense_Mutation_p.E109K|RIMS1_uc003pgi.2_Missense_Mutation_p.E109K|RIMS1_uc003pgh.2_Missense_Mutation_p.E109K|RIMS1_uc003pgd.2_Missense_Mutation_p.E109K|RIMS1_uc003pge.2_Missense_Mutation_p.E109K|RIMS1_uc011dye.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.E518K|RIMS1_uc010kas.1_Missense_Mutation_p.E351K	p.E892K	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			15	2751	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	892					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2674G>A	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.950077|4.950077	0.92660|0.92660	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.19938|.	2.4;2.57;2.48;2.57;2.55;2.54;2.57;2.46;2.58;2.54;2.6;2.49;2.58;2.11|.	5.55|5.55	4.69|4.69	0.59074|0.59074	.|.	0.159308|.	0.42294|.	D|.	0.000725|.	T|T	0.48960|0.48960	0.1529|0.1529	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	P;B;D;D;P;P;D;D;D;P;P;P|.	0.71674|.	0.892;0.008;0.973;0.972;0.599;0.945;0.998;0.993;0.979;0.949;0.935;0.77|.	P;B;P;P;B;P;D;P;B;P;B;B|.	0.75484|.	0.546;0.011;0.48;0.554;0.354;0.725;0.986;0.867;0.444;0.695;0.374;0.345|.	T|T	0.48658|0.48658	-0.9016|-0.9016	10|5	0.62326|.	D|.	0.03|.	-14.8936|-14.8936	14.3432|14.3432	0.66641|0.66641	0.0717:0.0:0.9283:0.0|0.0717:0.0:0.9283:0.0	.|.	351;366;892;351;366;892;145;892;892;145;892;892|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	K|K	892;892;892;892;892;892;892;892;892;892;892;892;366;366;285;285;351;117|465	ENSP00000430101:E892K;ENSP00000275037:E892K;ENSP00000264839:E892K;ENSP00000429959:E892K;ENSP00000430408:E892K;ENSP00000430502:E892K;ENSP00000430932:E892K;ENSP00000428417:E892K;ENSP00000385649:E366K;ENSP00000428328:E366K;ENSP00000411235:E285K;ENSP00000389503:E285K;ENSP00000428367:E351K;ENSP00000359448:E117K|.	ENSP00000264839:E892K|.	E|R	+|+	1|2	0|0	RIMS1|RIMS1	73017768|73017768	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.984000|0.984000	0.73092|0.73092	9.824000|9.824000	0.99380|0.99380	1.334000|1.334000	0.45468|0.45468	0.585000|0.585000	0.79938|0.79938	GAA|AGA		0.383	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			4	6	0	0	0	0	4	6				
DPPA5	340168	broad.mit.edu	37	6	74063936	74063936	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:74063936G>A	ENST00000370370.3	-	1	82	c.13C>T	c.(13-15)Ccg>Tcg	p.P5S		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	5					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						CTACGTGCCGGGAGAGTTCCC	0.582																																						uc003pgs.1		NA																	0					0						c.(13-15)CCG>TCG		developmental pluripotency associated 5							56.0	49.0	51.0					6																	74063936		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063936G>A		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.13C>T	6.37:g.74063936G>A	ENSP00000359396:p.Pro5Ser						p.P5S	NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN			1	18	-			5					B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.13C>T	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392052	0.25118	.	.	ENSG00000203909	ENST00000370370	T	0.25085	1.82	3.6	0.754	0.18410	.	0.663946	0.13279	N	0.399932	T	0.05273	0.0140	L	0.27053	0.805	0.09310	N	1	B	0.30634	0.288	B	0.29440	0.102	T	0.32134	-0.9918	10	0.52906	T	0.07	.	3.7702	0.08639	0.2331:0.2046:0.5623:0.0	.	5	A6NC42	DPPA5_HUMAN	S	5	ENSP00000359396:P5S	ENSP00000359396:P5S	P	-	1	0	DPPA5	74120657	0.001000	0.12720	0.000000	0.03702	0.286000	0.27126	0.621000	0.24418	0.153000	0.19213	0.485000	0.47835	CCG		0.582	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		3	24	0	0	0	0	3	24				
EEF1A1	1915	broad.mit.edu	37	6	74228094	74228094	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:74228094C>T	ENST00000316292.9	-	5	2003	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	EEF1A1_ENST00000331523.2_Missense_Mutation_p.A338T|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.A338T	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	338					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTGAAGCCAGCTGCTTCCATT	0.423											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003phi.2		NA																	0					0						c.(1012-1014)GCT>ACT		eukaryotic translation elongation factor 1 alpha							78.0	78.0	78.0					6																	74228094		2189	4291	6480	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228094C>T	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1012G>A	6.37:g.74228094C>T	ENSP00000339063:p.Ala338Thr		OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phd.2_Missense_Mutation_p.A63T|EEF1A1_uc003phe.2_Missense_Mutation_p.A328T|EEF1A1_uc003phf.2_Intron|EEF1A1_uc003phg.2_Missense_Mutation_p.A338T|EEF1A1_uc003phh.2_Missense_Mutation_p.A184T|EEF1A1_uc003phj.2_Missense_Mutation_p.A338T|EEF1A1_uc003phk.2_Missense_Mutation_p.A338T|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	p.A338T	NM_001402	NP_001393	P68104	EF1A1_HUMAN			5	1049	-			338					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.1012G>A	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475206	0.63737	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.41065	1.01;1.01;1.01	4.71	4.71	0.59529	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.065831	0.64402	U	0.000012	T	0.32823	0.0842	L	0.42744	1.35	0.80722	D	1	B;B;B	0.25743	0.002;0.133;0.002	B;B;B	0.36464	0.011;0.225;0.011	T	0.35176	-0.9799	10	0.62326	D	0.03	.	18.0919	0.89478	0.0:1.0:0.0:0.0	.	338;338;338	P68104;Q53HR5;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	T	338;336;338;338;317	ENSP00000339063:A338T;ENSP00000339053:A338T;ENSP00000330054:A338T	ENSP00000339053:A338T	A	-	1	0	EEF1A1	74284815	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.441000	0.80485	2.323000	0.78572	0.556000	0.70494	GCT		0.423	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		17	71	0	0	0	0	17	71				
COL12A1	1303	broad.mit.edu	37	6	75892813	75892813	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:75892813G>A	ENST00000322507.8	-	10	2153	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	COL12A1_ENST00000483888.2_Missense_Mutation_p.S615F|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S615F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	615	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGGCAGATAGACTGTGTGAG	0.378																																						uc003phs.2		NA																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(1843-1845)TCT>TTT		collagen, type XII, alpha 1 long isoform							72.0	68.0	69.0					6																	75892813		1853	4100	5953	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75892813G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1844C>T	6.37:g.75892813G>A	ENSP00000325146:p.Ser615Phe					COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.S273F	p.S615F	NM_004370	NP_004361	Q99715	COCA1_HUMAN			10	2010	-			615			VWFA 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1844C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227467	0.79576	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.78003	-1.14;-1.14;-1.14	5.67	5.67	0.87782	von Willebrand factor, type A (2);	0.000000	0.64402	D	0.000001	D	0.87241	0.6128	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87132	0.2197	10	0.72032	D	0.01	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	615;615	D6RGG3;Q99715	.;COCA1_HUMAN	F	615	ENSP00000325146:S615F;ENSP00000412864:S615F;ENSP00000421216:S615F	ENSP00000325146:S615F	S	-	2	0	COL12A1	75949533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.836000	0.97738	0.655000	0.94253	TCT		0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		16	54	0	0	0	0	16	54				
FILIP1	27145	broad.mit.edu	37	6	76023594	76023594	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76023594C>T	ENST00000237172.7	-	5	2284	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	FILIP1_ENST00000393004.2_Missense_Mutation_p.D652N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.D553N	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	652										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCATCAAATCCCCTTCGACC	0.418																																						uc003pia.2		NA																	0				skin(3)|ovary(1)	4						c.(1954-1956)GAT>AAT		filamin A interacting protein 1							261.0	266.0	264.0					6																	76023594		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023594C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1954G>A	6.37:g.76023594C>T	ENSP00000237172:p.Asp652Asn					FILIP1_uc003phy.1_Missense_Mutation_p.D652N|FILIP1_uc003phz.2_Missense_Mutation_p.D553N|FILIP1_uc010kbe.2_Missense_Mutation_p.D655N|FILIP1_uc003pib.1_Missense_Mutation_p.D404N	p.D652N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2327	-			652			Potential.		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.1954G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109318	0.77096	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.29142	1.58;1.58;1.59	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.996	T	0.57562	-0.7790	10	0.87932	D	0	-31.3195	19.7897	0.96452	0.0:1.0:0.0:0.0	.	652;652;652	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	N	652;652;553	ENSP00000376728:D652N;ENSP00000237172:D652N;ENSP00000359037:D553N	ENSP00000237172:D652N	D	-	1	0	FILIP1	76080314	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.818000	0.86416	2.694000	0.91930	0.467000	0.42956	GAT		0.418	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		59	227	0	0	0	0	59	227				
IMPG1	3617	broad.mit.edu	37	6	76744039	76744040	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76744039_76744040GG>AA	ENST00000369950.3	-	4	678_679	c.489_490CC>TT	c.(487-492)ttCCct>ttTTct	p.P164S	IMPG1_ENST00000369963.3_Missense_Mutation_p.P86S	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGCCTGTCAGGGAAACTTCTCT	0.337																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1		NA																	0				ovary(2)|skin(1)	3						c.(487-492)TTCCCT>TTTTCT		interphotoreceptor matrix proteoglycan 1																																				SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76744039_76744040GG>AA	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.489_490delinsAA	6.37:g.76744039_76744040delinsAA	ENSP00000358966:p.Pro164Ser						p.P164S	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			4	619_620	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	164						Missense_Mutation	DNP	ENST00000369950.3	37	c.489_490CC>TT	CCDS4985.1																																																																																				0.337	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		12	31	0	0	0	0	12	31				
IMPG1	3617	broad.mit.edu	37	6	76744384	76744384	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76744384C>T	ENST00000369950.3	-	3	611	c.422G>A	c.(421-423)gGa>gAa	p.G141E	IMPG1_ENST00000369963.3_Missense_Mutation_p.G63E	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.G141E(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAAGTTTTTTCCAATGTCAAA	0.507																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(2)|skin(1)	3						c.(421-423)GGA>GAA		interphotoreceptor matrix proteoglycan 1							112.0	101.0	105.0					6																	76744384		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76744384C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.422G>A	6.37:g.76744384C>T	ENSP00000358966:p.Gly141Glu						p.G141E	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			3	552	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	141						Missense_Mutation	SNP	ENST00000369950.3	37	c.422G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730727	0.69074	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;D	0.83075	1.2;-1.68	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000006	D	0.91209	0.7230	M	0.82323	2.585	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.90440	0.4431	9	.	.	.	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	141	Q17R60	IMPG1_HUMAN	E	141;63	ENSP00000358966:G141E;ENSP00000358980:G63E	.	G	-	2	0	IMPG1	76801104	1.000000	0.71417	0.988000	0.46212	0.670000	0.39368	4.894000	0.63206	2.720000	0.93068	0.557000	0.71058	GGA		0.507	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		23	86	0	0	0	0	23	86				
TPBG	7162	broad.mit.edu	37	6	83075562	83075562	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:83075562C>T	ENST00000369750.3	+	2	1501	c.884C>T	c.(883-885)cCc>cTc	p.P295L	TPBG_ENST00000535040.1_Missense_Mutation_p.P295L|TPBG_ENST00000543496.1_Missense_Mutation_p.P295L			Q13641	TPBG_HUMAN	trophoblast glycoprotein	295	LRRCT.				cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GACAACAATCCCTGGGTCTGC	0.552																																						uc003pjn.3		NA																	0				central_nervous_system(1)	1						c.(883-885)CCC>CTC		trophoblast glycoprotein precursor							106.0	96.0	100.0					6																	83075562		2203	4300	6503	SO:0001583	missense	7162				cell adhesion	integral to plasma membrane		g.chr6:83075562C>T	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.884C>T	6.37:g.83075562C>T	ENSP00000358765:p.Pro295Leu					TPBG_uc010kbj.2_Missense_Mutation_p.P295L|TPBG_uc003pjo.2_Missense_Mutation_p.P295L	p.P295L	NM_006670	NP_006661	Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	3	1820	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	295			Extracellular (Potential).|LRRCT.		A8K555	Missense_Mutation	SNP	ENST00000369750.3	37	c.884C>T	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193513	0.78902	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.02890	4.12;4.12;4.12	5.74	5.74	0.90152	Cysteine-rich flanking region, C-terminal (1);	0.124743	0.53938	D	0.000041	T	0.12603	0.0306	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.00200	-1.1927	10	0.87932	D	0	-23.2692	15.4098	0.74908	0.0:0.8615:0.1385:0.0	.	295	Q13641	TPBG_HUMAN	L	295	ENSP00000441219:P295L;ENSP00000358765:P295L;ENSP00000440049:P295L	ENSP00000358765:P295L	P	+	2	0	TPBG	83132281	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.005000	0.70716	2.716000	0.92895	0.650000	0.86243	CCC		0.552	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			13	67	0	0	0	0	13	67				
DOPEY1	23033	broad.mit.edu	37	6	83848374	83848374	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:83848374G>C	ENST00000349129.2	+	21	4873	c.4613G>C	c.(4612-4614)aGt>aCt	p.S1538T	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.S1519T|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S1529T	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1538					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTATCTTTAGTGCTCAGAAA	0.388																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(4612-4614)AGT>ACT		dopey family member 1							80.0	83.0	82.0					6																	83848374		2203	4298	6501	SO:0001583	missense	23033				protein transport			g.chr6:83848374G>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4613G>C	6.37:g.83848374G>C	ENSP00000195654:p.Ser1538Thr					DOPEY1_uc011dyy.1_Missense_Mutation_p.S1529T|DOPEY1_uc010kbl.1_Missense_Mutation_p.S1529T|DOPEY1_uc003pjt.2_RNA	p.S1538T	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	4873	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1538					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.4613G>C	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	9.946	1.218753	0.22373	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.43294	0.95;0.95	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	N	0.25890	0.77	0.80722	D	1	D;D;D	0.59767	0.986;0.982;0.982	D;D;D	0.69654	0.965;0.952;0.952	T	0.05257	-1.0896	10	0.12103	T	0.63	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	1429;1529;1538	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	T	1538;1519;1519	ENSP00000195654:S1538T;ENSP00000237163:S1519T	ENSP00000237163:S1519T	S	+	2	0	DOPEY1	83905093	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	AGT		0.388	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		15	55	0	0	0	0	15	55				
MRAP2	112609	broad.mit.edu	37	6	84765138	84765138	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:84765138C>T	ENST00000257776.4	+	2	236	c.101C>T	c.(100-102)tCc>tTc	p.S34F		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	34					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGACCAGTTTCCTTTGAAGGA	0.373																																						uc003pkg.3		NA																	0				skin(2)	2						c.(100-102)TCC>TTC		melanocortin 2 receptor accessory protein 2							68.0	71.0	70.0					6																	84765138		2203	4300	6503	SO:0001583	missense	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84765138C>T	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.101C>T	6.37:g.84765138C>T	ENSP00000257776:p.Ser34Phe					MRAP2_uc010kbo.2_5'UTR	p.S34F	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN			2	291	+			34					A8K9M1|Q8IXM9|Q8N2D1	Missense_Mutation	SNP	ENST00000257776.4	37	c.101C>T	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636293	0.87760	.	.	ENSG00000135324	ENST00000257776	D	0.86769	-2.17	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.91683	0.7371	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91956	0.5575	10	0.72032	D	0.01	-0.1389	19.5335	0.95239	0.0:1.0:0.0:0.0	.	34	Q96G30	MRAP2_HUMAN	F	34	ENSP00000257776:S34F	ENSP00000257776:S34F	S	+	2	0	MRAP2	84821857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.542000	0.73869	2.601000	0.87937	0.643000	0.83706	TCC		0.373	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		13	47	0	0	0	0	13	47				
ZNF292	23036	broad.mit.edu	37	6	87968650	87968650	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:87968650C>T	ENST00000369577.3	+	8	5346	c.5303C>T	c.(5302-5304)tCt>tTt	p.S1768F	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1763F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1768						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCTATGAATTCTCAAATACTT	0.318																																						uc003plm.3		NA																	0				ovary(4)	4						c.(5302-5304)TCT>TTT		zinc finger protein 292							29.0	28.0	28.0					6																	87968650		1792	4063	5855	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968650C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5303C>T	6.37:g.87968650C>T	ENSP00000358590:p.Ser1768Phe						p.S1768F	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5344	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1768					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5303C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214478	0.58452	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.10192	2.9;2.91	5.59	5.59	0.84812	.	0.257775	0.40554	N	0.001073	T	0.12050	0.0293	N	0.24115	0.695	0.36334	D	0.859051	D	0.64830	0.994	P	0.56916	0.809	T	0.03630	-1.1018	10	0.87932	D	0	.	19.9658	0.97266	0.0:1.0:0.0:0.0	.	1768	O60281	ZN292_HUMAN	F	1768;1763	ENSP00000358590:S1768F;ENSP00000342847:S1763F	ENSP00000342847:S1763F	S	+	2	0	ZNF292	88025369	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.077000	0.57598	2.782000	0.95742	0.557000	0.71058	TCT		0.318	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	16	0	0	0	0	8	16				
MDN1	23195	broad.mit.edu	37	6	90380682	90380682	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:90380682G>A	ENST00000369393.3	-	83	14027	c.13912C>T	c.(13912-13914)Ctg>Ttg	p.L4638L	MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Silent_p.L4638L|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4638					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAGAGAGCAGCTTTGCAGTA	0.532																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(13912-13914)CTG>TTG		MDN1, midasin homolog							105.0	93.0	97.0					6																	90380682		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90380682G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13912C>T	6.37:g.90380682G>A							p.L4638L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	83	14028	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4638					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.13912C>T	CCDS5024.1																																																																																				0.532	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			21	73	0	0	0	0	21	73				
MDN1	23195	broad.mit.edu	37	6	90398396	90398396	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:90398396G>A	ENST00000369393.3	-	66	11270	c.11155C>T	c.(11155-11157)Ccc>Tcc	p.P3719S	MDN1_ENST00000428876.1_Missense_Mutation_p.P3719S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3719					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGAACATTGGGATGCTGGTAG	0.532																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(11155-11157)CCC>TCC		MDN1, midasin homolog							94.0	78.0	83.0					6																	90398396		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90398396G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11155C>T	6.37:g.90398396G>A	ENSP00000358400:p.Pro3719Ser						p.P3719S	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	66	11271	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3719					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.11155C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075031	0.55646	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03065	4.06;4.06	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.06781	0.0173	L	0.43646	1.37	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.52786	-0.8529	10	0.12430	T	0.62	.	19.2472	0.93906	0.0:0.0:1.0:0.0	.	3719	Q9NU22	MDN1_HUMAN	S	3719	ENSP00000358400:P3719S;ENSP00000413970:P3719S	ENSP00000358400:P3719S	P	-	1	0	MDN1	90455117	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	9.822000	0.99363	2.540000	0.85666	0.305000	0.20034	CCC		0.532	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			17	19	0	0	0	0	17	19				
CASP8AP2	9994	broad.mit.edu	37	6	90577717	90577717	+	RNA	SNP	C	C	T	rs537929246|rs202116886	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:90577717C>T	ENST00000551025.1	+	0	6145									caspase 8 associated protein 2									p.S1568fs*1(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GACATCTTTGCCCAGACATGG	0.388																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(2)	2						c.(4708-4710)CCC>TCC		caspase 8 associated protein 2							172.0	148.0	156.0					6																	90577717		1893	4068	5961			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90577717C>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577717C>T						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.P1570S|CASP8AP2_uc011dzz.1_Missense_Mutation_p.P1570S	p.P1570S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	4904	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1570						Missense_Mutation	SNP	ENST00000551025.1	37	c.4708C>T																																																																																					0.388	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		45	168	0	0	0	0	45	168				
MMS22L	253714	broad.mit.edu	37	6	97681814	97681814	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:97681814A>C	ENST00000275053.4	-	12	1490	c.1225T>G	c.(1225-1227)Tgt>Ggt	p.C409G	MMS22L_ENST00000369251.2_Intron	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	409					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGTGTCAAACAACAGTGAAGA	0.328																																						uc003ppb.2		NA																	0					0						c.(1225-1227)TGT>GGT		hypothetical protein LOC253714							99.0	100.0	100.0					6																	97681814		2203	4299	6502	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97681814A>C		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1225T>G	6.37:g.97681814A>C	ENSP00000275053:p.Cys409Gly					C6orf167_uc011eaf.1_Intron|C6orf167_uc010kcn.1_Missense_Mutation_p.C183G|C6orf167_uc010kco.1_Missense_Mutation_p.C145G	p.C409G	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	12	1491	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	409					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.1225T>G	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543807	0.86022	.	.	ENSG00000146263	ENST00000275053;ENST00000510018	T;T	0.35421	1.31;1.31	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.59418	-0.7458	10	0.72032	D	0.01	-5.4518	15.6977	0.77512	1.0:0.0:0.0:0.0	.	409	Q6ZRQ5	MMS22_HUMAN	G	409;297	ENSP00000275053:C409G;ENSP00000427288:C297G	ENSP00000275053:C409G	C	-	1	0	MMS22L	97788535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.992000	0.88273	2.169000	0.68431	0.533000	0.62120	TGT		0.328	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		27	87	0	0	0	0	27	87				
SIM1	6492	broad.mit.edu	37	6	100841642	100841642	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:100841642C>T	ENST00000369208.3	-	11	2073	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	SIM1_ENST00000262901.4_Missense_Mutation_p.D431N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	431	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CACGATGCGTCGTGCTGGGAG	0.602																																						uc003pqj.3		NA																	0				ovary(4)	4						c.(1291-1293)GAC>AAC		single-minded homolog 1							66.0	63.0	64.0					6																	100841642		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841642C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1291G>A	6.37:g.100841642C>T	ENSP00000358210:p.Asp431Asn					SIM1_uc010kcu.2_Missense_Mutation_p.D431N	p.D431N	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1498	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	431			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1291G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284551	0.59867	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03524	3.9;3.9	5.78	5.78	0.91487	Single-minded, C-terminal (2);	0.222920	0.53938	D	0.000058	T	0.01287	0.0042	L	0.27053	0.805	0.58432	D	0.999997	P	0.42039	0.769	B	0.36418	0.224	T	0.43556	-0.9384	10	0.05525	T	0.97	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	431	P81133	SIM1_HUMAN	N	431	ENSP00000358210:D431N;ENSP00000262901:D431N	ENSP00000262901:D431N	D	-	1	0	SIM1	100948363	1.000000	0.71417	0.837000	0.33122	0.737000	0.42083	7.487000	0.81328	2.731000	0.93534	0.655000	0.94253	GAC		0.602	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		18	35	0	0	0	0	18	35				
HACE1	57531	broad.mit.edu	37	6	105198279	105198279	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105198279A>G	ENST00000262903.4	-	20	2556	c.2280T>C	c.(2278-2280)ttT>ttC	p.F760F	HACE1_ENST00000369125.2_Silent_p.F545F|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	760	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGCCCTGTAAAAAAGCATTGA	0.383																																						uc003pqu.1		NA																	0				ovary(5)|lung(2)	7						c.(2278-2280)TTT>TTC		HECT domain and ankyrin repeat containing, E3							110.0	104.0	106.0					6																	105198279		2203	4300	6503	SO:0001819	synonymous_variant	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105198279A>G	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2280T>C	6.37:g.105198279A>G						HACE1_uc010kcy.1_Silent_p.F242F|HACE1_uc010kcz.1_Silent_p.F545F|HACE1_uc010kcx.1_Silent_p.F169F|HACE1_uc003pqt.1_Silent_p.F413F	p.F760F	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	20	2557	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	760			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Silent	SNP	ENST00000262903.4	37	c.2280T>C	CCDS5050.1																																																																																				0.383	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		10	36	0	0	0	0	10	36				
HACE1	57531	broad.mit.edu	37	6	105224670	105224670	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105224670G>A	ENST00000262903.4	-	17	2086	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	HACE1_ENST00000369125.2_Intron|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	604	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCATTGGACAGAATATCAAAC	0.338																																						uc003pqu.1		NA																	0				ovary(5)|lung(2)	7						c.(1810-1812)CTG>TTG		HECT domain and ankyrin repeat containing, E3							113.0	102.0	106.0					6																	105224670		2203	4300	6503	SO:0001819	synonymous_variant	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105224670G>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1810C>T	6.37:g.105224670G>A						HACE1_uc010kcy.1_Silent_p.L86L|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Silent_p.L13L|HACE1_uc003pqt.1_Silent_p.L257L	p.L604L	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	17	2087	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	604			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Silent	SNP	ENST00000262903.4	37	c.1810C>T	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	8.924	0.961866	0.18583	.	.	ENSG00000085382	ENST00000518503;ENST00000518402	.	.	.	5.7	4.72	0.59763	.	.	.	.	.	T	0.35335	0.0928	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41538	-0.9503	4	.	.	.	.	3.7314	0.08495	0.3357:0.0:0.6642:0.0	.	.	.	.	F	86;38	.	.	S	-	2	0	HACE1	105331363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.683000	0.68189	2.673000	0.90976	0.655000	0.94253	TCT		0.338	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		10	38	0	0	0	0	10	38				
BVES	11149	broad.mit.edu	37	6	105563586	105563586	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105563586C>T	ENST00000314641.5	-	7	1149	c.933G>A	c.(931-933)cgG>cgA	p.R311R	BVES_ENST00000336775.5_Silent_p.R311R|BVES_ENST00000446408.2_Silent_p.R311R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	311					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGGAGGTACCCCGAAGAAACT	0.473																																						uc003pqw.2		NA																	0					0						c.(931-933)CGG>CGA		blood vessel epicardial substance isoform 5							179.0	155.0	163.0					6																	105563586		2203	4300	6503	SO:0001819	synonymous_variant	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105563586C>T	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.933G>A	6.37:g.105563586C>T						BVES_uc003pqx.2_Silent_p.R311R|BVES_uc003pqy.2_Silent_p.R311R	p.R311R	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			7	1090	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	311			Cytoplasmic (Potential).		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Silent	SNP	ENST00000314641.5	37	c.933G>A	CCDS5051.1																																																																																				0.473	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		16	76	0	0	0	0	16	76				
PREP	5550	broad.mit.edu	37	6	105726198	105726198	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105726198A>G	ENST00000369110.3	-	15	2146	c.1954T>C	c.(1954-1956)Ttc>Ctc	p.F652L	RP3-355L5.4_ENST00000452363.1_RNA	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	652					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GTGGCAATGAACTTCAGGGAG	0.587																																						uc003prc.2		NA																	0				ovary(3)	3						c.(1954-1956)TTC>CTC		prolyl endopeptidase	Oxytocin(DB00107)						97.0	88.0	91.0					6																	105726198		2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105726198A>G		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1954T>C	6.37:g.105726198A>G	ENSP00000358106:p.Phe652Leu						p.F652L	NM_002726	NP_002717	P48147	PPCE_HUMAN			15	2157	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	652					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.1954T>C	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260912	0.59431	.	.	ENSG00000085377	ENST00000369110	T	0.28255	1.62	5.87	5.87	0.94306	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.046192	0.85682	D	0.000000	T	0.10937	0.0267	N	0.13371	0.34	0.80722	D	1	B	0.14012	0.009	B	0.18263	0.021	T	0.06679	-1.0813	10	0.35671	T	0.21	-25.9109	16.2718	0.82624	1.0:0.0:0.0:0.0	.	652	P48147	PPCE_HUMAN	L	652	ENSP00000358106:F652L	ENSP00000358106:F652L	F	-	1	0	PREP	105832891	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.239000	0.73571	0.528000	0.53228	TTC		0.587	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			7	37	0	0	0	0	7	37				
BEND3	57673	broad.mit.edu	37	6	107390290	107390290	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:107390290G>A	ENST00000369042.1	-	4	2295	c.2105C>T	c.(2104-2106)cCc>cTc	p.P702L	BEND3_ENST00000429433.2_Missense_Mutation_p.P702L			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	702										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTCGTCCAAGGGGATCTTGCA	0.617																																						uc003prs.2		NA																	0				ovary(3)	3						c.(2104-2106)CCC>CTC		BEN domain containing 3							48.0	51.0	50.0					6																	107390290		2203	4300	6503	SO:0001583	missense	57673							g.chr6:107390290G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.2105C>T	6.37:g.107390290G>A	ENSP00000358038:p.Pro702Leu						p.P702L	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	2755	-			702					A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.2105C>T	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776803	0.70107	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.65302	-0.6201	9	0.87932	D	0	-10.1773	19.4795	0.95003	0.0:0.0:1.0:0.0	.	702	Q5T5X7	BEND3_HUMAN	L	702	.	ENSP00000358038:P702L	P	-	2	0	BEND3	107496983	1.000000	0.71417	0.969000	0.41365	0.817000	0.46193	9.414000	0.97362	2.599000	0.87857	0.455000	0.32223	CCC		0.617	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		10	74	0	0	0	0	10	74				
WASF1	8936	broad.mit.edu	37	6	110422844	110422844	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:110422844G>A	ENST00000392589.1	-	10	2305	c.1469C>T	c.(1468-1470)aCc>aTc	p.T490I	WASF1_ENST00000392587.2_Missense_Mutation_p.T490I|WASF1_ENST00000359451.2_Missense_Mutation_p.T490I|WASF1_ENST00000392586.1_Missense_Mutation_p.T490I|WASF1_ENST00000392588.1_Missense_Mutation_p.T490I	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	490					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TACAGGTAGGGTTGATGGATG	0.468																																						uc003ptv.1		NA																	0					0						c.(1468-1470)ACC>ATC		Wiskott-Aldrich syndrome protein family member							152.0	150.0	151.0					6																	110422844		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110422844G>A	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1469C>T	6.37:g.110422844G>A	ENSP00000376368:p.Thr490Ile					WASF1_uc003ptw.1_Missense_Mutation_p.T490I|WASF1_uc003ptx.1_Missense_Mutation_p.T490I|WASF1_uc003pty.1_Missense_Mutation_p.T490I	p.T490I	NM_003931	NP_003922	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	10	2306	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	490					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.1469C>T	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.197133	0.38806	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.86	4.97	0.65823	.	0.087629	0.85682	D	0.000000	T	0.12433	0.0302	N	0.08118	0	0.49582	D	0.999806	P	0.37864	0.61	B	0.33042	0.157	T	0.05194	-1.0900	10	0.34782	T	0.22	.	16.6855	0.85304	0.0:0.1299:0.8701:0.0	.	490	Q92558	WASF1_HUMAN	I	490	ENSP00000376365:T490I;ENSP00000376366:T490I;ENSP00000376368:T490I;ENSP00000376367:T490I;ENSP00000352425:T490I	ENSP00000352425:T490I	T	-	2	0	WASF1	110529537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.583000	0.67484	1.424000	0.47217	0.655000	0.94253	ACC		0.468	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		32	123	0	0	0	0	32	123				
GPRC6A	222545	broad.mit.edu	37	6	117128036	117128036	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:117128036G>A	ENST00000310357.3	-	3	853	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	GPRC6A_ENST00000368549.3_Silent_p.L278L|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	278					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATTGCCTCAGAAATACCACA	0.353																																						uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(832-834)CTG>TTG		G protein-coupled receptor, family C, group 6,							82.0	87.0	85.0					6																	117128036		2203	4299	6502	SO:0001819	synonymous_variant	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117128036G>A	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.832C>T	6.37:g.117128036G>A						GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Silent_p.L278L	p.L278L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	854	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	278			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	c.832C>T	CCDS5112.1																																																																																				0.353	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			14	60	0	0	0	0	14	60				
ROS1	6098	broad.mit.edu	37	6	117609777	117609777	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:117609777C>T	ENST00000368508.3	-	43	7120	c.6922G>A	c.(6922-6924)Gaa>Aaa	p.E2308K	ROS1_ENST00000368507.3_Missense_Mutation_p.E2302K	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2308					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E2308Q(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCATGTGGTTCCTTCTCTTCT	0.483			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		kidney(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(6922-6924)GAA>AAA		proto-oncogene c-ros-1 protein precursor							113.0	112.0	112.0					6																	117609777		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117609777C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6922G>A	6.37:g.117609777C>T	ENSP00000357494:p.Glu2308Lys					ROS1_uc011ebi.1_RNA	p.E2308K	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	43	7121	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2308			Cytoplasmic (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6922G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711072	0.48517	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.70869	-0.52;-0.52	4.5	2.67	0.31697	.	0.477423	0.17720	N	0.164296	T	0.29914	0.0748	N	0.19112	0.55	0.25481	N	0.987738	B	0.06786	0.001	B	0.06405	0.002	T	0.20371	-1.0277	10	0.59425	D	0.04	.	4.018	0.09652	0.0:0.563:0.2109:0.2261	.	2308	P08922	ROS1_HUMAN	K	2308;2302	ENSP00000357494:E2308K;ENSP00000357493:E2302K	ENSP00000357493:E2302K	E	-	1	0	ROS1	117716470	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.987000	0.29603	0.494000	0.27859	0.563000	0.77884	GAA		0.483	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			17	60	0	0	0	0	17	60				
ROS1	6098	broad.mit.edu	37	6	117718139	117718139	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:117718139C>T	ENST00000368508.3	-	7	916	c.718G>A	c.(718-720)Gat>Aat	p.D240N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D249N	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	240	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTCCCTGCATCTAATTTTTGA	0.408			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(718-720)GAT>AAT		proto-oncogene c-ros-1 protein precursor							141.0	148.0	146.0					6																	117718139		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117718139C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.718G>A	6.37:g.117718139C>T	ENSP00000357494:p.Asp240Asn					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.D240N	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	7	917	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	240			Fibronectin type-III 2.|Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.718G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457748	0.26161	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.55052	0.54;0.54	5.53	3.68	0.42216	.	0.608987	0.15785	N	0.244760	T	0.29061	0.0722	L	0.32530	0.975	0.32401	N	0.551996	P	0.43231	0.801	B	0.40741	0.339	T	0.06625	-1.0816	10	0.51188	T	0.08	.	14.9393	0.70980	0.0:0.5886:0.4114:0.0	.	240	P08922	ROS1_HUMAN	N	240;249	ENSP00000357494:D240N;ENSP00000357493:D249N	ENSP00000357493:D249N	D	-	1	0	ROS1	117824832	0.704000	0.27836	0.985000	0.45067	0.995000	0.86356	0.339000	0.19875	0.740000	0.32651	0.650000	0.86243	GAT		0.408	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			32	121	0	0	0	0	32	121				
SLC35F1	222553	broad.mit.edu	37	6	118475784	118475784	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:118475784G>A	ENST00000360388.4	+	2	550		c.e2+1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTCAGACAAGGTAAGCTCACA	0.403																																						uc003pxx.3		NA																	0				breast(1)	1						c.e2+1		solute carrier family 35, member F1							131.0	128.0	129.0					6																	118475784		2203	4300	6503	SO:0001630	splice_region_variant	222553				transport	integral to membrane		g.chr6:118475784G>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.349+1G>A	6.37:g.118475784G>A							p.G117_splice	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	2	550	+								E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Splice_Site	SNP	ENST00000360388.4	37	c.349_splice	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899265	0.91962	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC35F1	118582477	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.560000	0.90712	2.783000	0.95769	0.655000	0.94253	.		0.403	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	Intron	29	137	0	0	0	0	29	137				
THEMIS	387357	broad.mit.edu	37	6	128134451	128134451	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:128134451C>T	ENST00000368248.2	-	4	1483	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P	THEMIS_ENST00000537166.1_Silent_p.P410P|THEMIS_ENST00000368250.1_Silent_p.P366P|THEMIS_ENST00000543064.1_Silent_p.P445P	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	445	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTCAGAAATCGGGTACTGTT	0.468																																						uc003qbi.2		NA																	0				ovary(2)|skin(2)	4						c.(1333-1335)CCG>CCA		thymocyte selection pathway associated isoform							89.0	95.0	93.0					6																	128134451		2203	4300	6503	SO:0001819	synonymous_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134451C>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1335G>A	6.37:g.128134451C>T						THEMIS_uc010kfa.2_Silent_p.P348P|THEMIS_uc011ebt.1_Silent_p.P445P|THEMIS_uc010kfb.2_Silent_p.P410P	p.P445P	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1654	-			445			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	37	c.1335G>A	CCDS34534.1																																																																																				0.468	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		32	115	0	0	0	0	32	115				
THEMIS	387357	broad.mit.edu	37	6	128150863	128150863	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:128150863C>T	ENST00000368248.2	-	3	615	c.467G>A	c.(466-468)aGg>aAg	p.R156K	THEMIS_ENST00000537166.1_Missense_Mutation_p.R121K|THEMIS_ENST00000368250.1_Missense_Mutation_p.R77K|THEMIS_ENST00000543064.1_Missense_Mutation_p.R156K	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	156	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTGATGATTCCTTGCTACTGC	0.378																																						uc003qbi.2		NA																	0				ovary(2)|skin(2)	4						c.(466-468)AGG>AAG		thymocyte selection pathway associated isoform							157.0	153.0	155.0					6																	128150863		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128150863C>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.467G>A	6.37:g.128150863C>T	ENSP00000357231:p.Arg156Lys					THEMIS_uc010kfa.2_Missense_Mutation_p.R59K|THEMIS_uc011ebt.1_Missense_Mutation_p.R156K|THEMIS_uc010kfb.2_Missense_Mutation_p.R121K	p.R156K	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			4	786	-			156			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.467G>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785228	0.70337	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	6.14	5.26	0.73747	.	0.114965	0.56097	D	0.000021	T	0.05502	0.0145	L	0.40543	1.245	0.28119	N	0.930666	B;P	0.36753	0.319;0.568	B;B	0.33568	0.111;0.166	T	0.26780	-1.0093	10	0.25106	T	0.35	-18.2491	15.8587	0.79005	0.0:0.9347:0.0:0.0653	.	156;156	F5H1J9;Q8N1K5	.;THMS1_HUMAN	K	77;156;156;121	ENSP00000357233:R77K;ENSP00000439594:R156K;ENSP00000357231:R156K;ENSP00000439863:R121K	ENSP00000357231:R156K	R	-	2	0	THEMIS	128192556	0.987000	0.35691	0.991000	0.47740	0.678000	0.39670	4.390000	0.59646	2.937000	0.99478	0.650000	0.86243	AGG		0.378	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		14	109	0	0	0	0	14	109				
PTPRK	5796	broad.mit.edu	37	6	128411004	128411004	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:128411004G>A	ENST00000368215.3	-	8	1295	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	PTPRK_ENST00000368210.3_Silent_p.F432F|PTPRK_ENST00000368213.5_Silent_p.F432F|PTPRK_ENST00000368226.4_Silent_p.F432F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Silent_p.F432F|PTPRK_ENST00000368207.3_Silent_p.F432F|PTPRK_ENST00000368227.3_Silent_p.F432F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	432	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTGACCACGGAAGTAATGGT	0.483																																						uc003qbk.2		NA																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(1294-1296)TTC>TTT		protein tyrosine phosphatase, receptor type, K							181.0	146.0	158.0					6																	128411004		2203	4300	6503	SO:0001819	synonymous_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128411004G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1296C>T	6.37:g.128411004G>A						PTPRK_uc003qbj.2_Silent_p.F432F|PTPRK_uc010kfc.2_Silent_p.F432F|PTPRK_uc011ebu.1_Silent_p.F432F|PTPRK_uc003qbl.1_Silent_p.F302F|PTPRK_uc011ebv.1_Silent_p.F432F	p.F432F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	8	1663	-			432			Extracellular (Potential).|Fibronectin type-III 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37	c.1296C>T																																																																																					0.483	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			16	66	0	0	0	0	16	66				
LAMA2	3908	broad.mit.edu	37	6	129634086	129634086	+	Silent	SNP	C	C	T	rs200075509		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:129634086C>T	ENST00000421865.2	+	23	3304	c.3255C>T	c.(3253-3255)ttC>ttT	p.F1085F		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1085	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCCAAAATTCTCTGGTGCAA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		19576	0.001		0.0	False		,,,				2504	0.0					uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(3253-3255)TTC>TTT		laminin alpha 2 subunit isoform a precursor							99.0	89.0	92.0					6																	129634086		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129634086C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3255C>T	6.37:g.129634086C>T						LAMA2_uc003qbo.2_Silent_p.F1085F	p.F1085F	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	23	3360	+			1085			Laminin EGF-like 12.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.3255C>T	CCDS5138.1																																																																																				0.473	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			5	36	0	0	0	0	5	36				
LAMA2	3908	broad.mit.edu	37	6	129802480	129802480	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:129802480G>A	ENST00000421865.2	+	55	7694	c.7645G>A	c.(7645-7647)Gaa>Aaa	p.E2549K	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2549	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTAGGAACAGAAATCAACCT	0.463																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(7645-7647)GAA>AAA		laminin alpha 2 subunit isoform a precursor							160.0	148.0	152.0					6																	129802480		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129802480G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7645G>A	6.37:g.129802480G>A	ENSP00000400365:p.Glu2549Lys					LAMA2_uc003qbo.2_Missense_Mutation_p.E2545K|uc003qbq.2_RNA	p.E2549K	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	54	7750	+			2549			Laminin G-like 3.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7645G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461684	0.96240	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.79845	-1.31	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.091990	0.85682	D	0.000000	D	0.87771	0.6261	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	D	0.87133	0.2198	9	.	.	.	.	18.4873	0.90834	0.0:0.0:1.0:0.0	.	2550;2549	A6NF00;P24043	.;LAMA2_HUMAN	K	2549;2548;2549;567	ENSP00000400365:E2549K	.	E	+	1	0	LAMA2	129844173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.399000	0.79935	2.540000	0.85666	0.563000	0.77884	GAA		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			26	95	0	0	0	0	26	95				
EPB41L2	2037	broad.mit.edu	37	6	131211548	131211548	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:131211548G>A	ENST00000337057.3	-	11	1727	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	EPB41L2_ENST00000525271.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R516C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R516C|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R516C|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R516C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	516	Hydrophilic.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCACTATAGCGAAATTTGGAC	0.517																																						uc003qch.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1546-1548)CGC>TGC		erythrocyte membrane protein band 4.1-like 2							93.0	101.0	98.0					6																	131211548		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131211548G>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1546C>T	6.37:g.131211548G>A	ENSP00000338481:p.Arg516Cys					EPB41L2_uc003qcg.1_Missense_Mutation_p.R516C|EPB41L2_uc011eby.1_Missense_Mutation_p.R516C|EPB41L2_uc003qci.2_Missense_Mutation_p.R516C|EPB41L2_uc010kfk.2_Missense_Mutation_p.R516C|EPB41L2_uc010kfl.1_Missense_Mutation_p.R516C	p.R516C	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	11	1728	-	Breast(56;0.0639)		516			Hydrophilic.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1546C>T	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.032664|5.032664	0.93575|0.93575	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208|ENST00000456097	D;D;D;D;D;D;D;D;D;D;D|.	0.96168|.	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93|.	5.44|5.44	5.44|5.44	0.79542|0.79542	FERM adjacent (FA) (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86087|0.86087	0.5849|0.5849	H|H	0.94925|0.94925	3.6|3.6	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.999;0.999;1.0;0.999|.	D|D	0.89623|0.89623	0.3850|0.3850	10|5	0.87932|.	D|.	0|.	.|.	19.2709|19.2709	0.94010|0.94010	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	516;516;516;516;516|.	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2|.	.;.;.;E41L2_HUMAN;.|.	C|L	516|6	ENSP00000434308:R516C;ENSP00000434576:R516C;ENSP00000402041:R516C;ENSP00000338481:R516C;ENSP00000376222:R516C;ENSP00000357110:R516C;ENSP00000436348:R516C;ENSP00000432803:R516C;ENSP00000431988:R516C;ENSP00000431647:R516C;ENSP00000436641:R516C|.	ENSP00000338481:R516C|.	R|S	-|-	1|2	0|0	EPB41L2|EPB41L2	131253241|131253241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.027000|8.027000	0.88791|0.88791	2.567000|2.567000	0.86603|0.86603	0.555000|0.555000	0.69702|0.69702	CGC|TCG		0.517	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			54	76	0	0	0	0	54	76				
CTAGE9	643854	broad.mit.edu	37	6	132029995	132029995	+	Silent	SNP	G	G	A	rs573691095		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:132029995G>A	ENST00000314099.8	-	1	2211	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	721	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GAGGTGGGGGGAAAGGAGGTC	0.522													g|||	1	0.000199681	0.0	0.0	5008	,	,		19855	0.001		0.0	False		,,,				2504	0.0					uc011ece.1		NA																	0					0						c.(2161-2163)TTC>TTT		CTAGE family, member 4-like							19.0	20.0	20.0					6																	132029995		667	1589	2256	SO:0001819	synonymous_variant	643854					integral to membrane		g.chr6:132029995G>A		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.2163C>T	6.37:g.132029995G>A						ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron	p.F721F	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN			1	2163	-			721			Pro-rich.			Silent	SNP	ENST00000314099.8	37	c.2163C>T	CCDS47475.1																																																																																				0.522	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		44	142	0	0	0	0	44	142				
VNN1	8876	broad.mit.edu	37	6	133014449	133014449	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:133014449G>A	ENST00000367928.4	-	4	553	c.540C>T	c.(538-540)aaC>aaT	p.N180N		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	180	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.N180K(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCATGAAAAGGTTTTGCTGCA	0.363																																						uc003qdo.2		NA																	1	Substitution - Missense(1)		NS(1)	ovary(3)	3						c.(538-540)AAC>AAT		vanin 1 precursor							46.0	46.0	46.0					6																	133014449		2203	4300	6503	SO:0001819	synonymous_variant	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133014449G>A	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.540C>T	6.37:g.133014449G>A							p.N180N	NM_004666	NP_004657	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	4	560	-	Breast(56;0.135)		180			CN hydrolase.		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	ENST00000367928.4	37	c.540C>T	CCDS5159.1																																																																																				0.363	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			8	32	0	0	0	0	8	32				
AHI1	54806	broad.mit.edu	37	6	135811762	135811762	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:135811762G>A	ENST00000367800.4	-	3	350	c.134C>T	c.(133-135)tCa>tTa	p.S45L	AHI1_ENST00000534469.1_Missense_Mutation_p.S45L|AHI1_ENST00000367798.2_Splice_Site_p.S45L|AHI1_ENST00000457866.2_Splice_Site_p.S45L|AHI1_ENST00000327035.6_Splice_Site_p.S45L|AHI1_ENST00000488690.2_Splice_Site_p.S45L|AHI1_ENST00000528103.1_Missense_Mutation_p.S45L|AHI1_ENST00000531527.1_5'Flank	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	45					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTTACTTACTGAGATGTTTTC	0.318																																						uc003qgi.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(133-135)TCA>TTA		Abelson helper integration site 1 isoform a							195.0	179.0	184.0					6																	135811762		1820	4078	5898	SO:0001630	splice_region_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135811762G>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.135+1C>T	6.37:g.135811762G>A						AHI1_uc003qgh.2_Missense_Mutation_p.S45L|AHI1_uc003qgj.2_Missense_Mutation_p.S45L|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.S45L	p.S45L	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	5	518	-	Breast(56;0.239)|Colorectal(23;0.24)		45			Potential.		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.134C>T	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	G	9.721	1.159650	0.21454	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469;ENST00000488690;ENST00000367798;ENST00000528103;ENST00000534469	T;T;T;T;T	0.47177	0.92;0.92;0.92;0.92;0.85	4.97	2.81	0.32909	.	0.855209	0.09916	N	0.739193	T	0.20780	0.0500	L	0.51422	1.61	0.34011	D	0.651448	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.08207	-1.0733	10	0.22109	T	0.4	-2.2126	7.9635	0.30085	0.2225:0.0:0.7775:0.0	.	45;45	Q8N157-2;Q8N157	.;AHI1_HUMAN	L	45	ENSP00000356774:S45L;ENSP00000388650:S45L;ENSP00000265602:S45L;ENSP00000322478:S45L;ENSP00000433063:S45L	ENSP00000265602:S45L	S	-	2	0	AHI1	135853455	0.998000	0.40836	0.887000	0.34795	0.258000	0.26162	1.344000	0.33941	1.085000	0.41206	0.557000	0.71058	TCA		0.318	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	Missense_Mutation	29	140	0	0	0	0	29	140				
TNFAIP3	7128	broad.mit.edu	37	6	138202171	138202171	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:138202171G>A	ENST00000237289.4	+	9	2154		c.e9-1			NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3						apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTTCCACTCAGAGATCGAGCC	0.522			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	uc003qhr.2		NA		Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		25	Whole gene deletion(25)	p.0?(22)	haematopoietic_and_lymphoid_tissue(25)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.e9-1		tumor necrosis factor, alpha-induced protein 3							54.0	62.0	60.0					6																	138202171		2203	4300	6503	SO:0001630	splice_region_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138202171G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.2089-1G>A	6.37:g.138202171G>A						TNFAIP3_uc003qhs.2_Splice_Site_p.R697_splice	p.R697_splice	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	9	2155	+	Breast(32;0.135)|Colorectal(23;0.24)							B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Splice_Site	SNP	ENST00000237289.4	37	c.2089_splice	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966393	0.74131	.	.	ENSG00000118503	ENST00000237289;ENST00000535574	.	.	.	5.8	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6417	0.68729	0.0:0.0:0.8542:0.1458	.	.	.	.	.	-1	.	.	.	+	.	.	TNFAIP3	138243864	.	.	0.986000	0.45419	0.972000	0.66771	.	.	1.441000	0.47550	0.655000	0.94253	.		0.522	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1		Intron	18	63	0	0	0	0	18	63				
NMBR	4829	broad.mit.edu	37	6	142409721	142409721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:142409721C>T	ENST00000258042.1	-	1	215	c.75G>A	c.(73-75)tgG>tgA	p.W25*	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	25					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AATCCCTTTCCCACCCCTCGG	0.612																																						uc003qiu.2		NA																	0				central_nervous_system(3)|breast(1)	4						c.(73-75)TGG>TGA		neuromedin B receptor							41.0	41.0	41.0					6																	142409721		2203	4300	6503	SO:0001587	stop_gained	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409721C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.75G>A	6.37:g.142409721C>T	ENSP00000258042:p.Trp25*						p.W25*	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	216	-	Breast(32;0.155)		25			Extracellular (Potential).		E9KL38|Q5VUK8	Nonsense_Mutation	SNP	ENST00000258042.1	37	c.75G>A	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269095	0.59540	.	.	ENSG00000135577	ENST00000258042	.	.	.	4.95	-3.33	0.04958	.	2.505110	0.00855	N	0.001869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	8.1098	7.0921	0.25289	0.0653:0.4977:0.2306:0.2064	.	.	.	.	X	25	.	ENSP00000258042:W25X	W	-	3	0	NMBR	142451414	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.133000	0.00589	-0.867000	0.04063	-0.344000	0.07964	TGG		0.612	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			10	29	0	0	0	0	10	29				
PLAGL1	5325	broad.mit.edu	37	6	144262941	144262941	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:144262941C>T	ENST00000360537.2	-	5	2925	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	PLAGL1_ENST00000429150.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000444202.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000354765.2_Missense_Mutation_p.E338K|PLAGL1_ENST00000392307.1_Missense_Mutation_p.E286K|PLAGL1_ENST00000437412.1_Missense_Mutation_p.E286K|PLAGL1_ENST00000367571.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000416623.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000392309.1_Missense_Mutation_p.E338K|PLAGL1_ENST00000367572.1_Missense_Mutation_p.E286K			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	338					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GACTGAGGCTCTTGCAGAGGC	0.483											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003qjv.2		NA																	0				skin(1)	1						c.(1012-1014)GAG>AAG		pleiomorphic adenoma gene-like 1 isoform 1							109.0	109.0	109.0					6																	144262941		2203	4300	6503	SO:0001583	missense	5325				cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:144262941C>T	U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.1012G>A	6.37:g.144262941C>T	ENSP00000353734:p.Glu338Lys		OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1685	PLAGL1_uc003qjx.2_Missense_Mutation_p.E338K|PLAGL1_uc003qjy.2_Missense_Mutation_p.E338K|PLAGL1_uc010khl.2_Missense_Mutation_p.E338K|PLAGL1_uc010khm.2_Missense_Mutation_p.E338K|PLAGL1_uc003qjz.2_Missense_Mutation_p.E338K|PLAGL1_uc003qka.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkb.2_Missense_Mutation_p.E286K|PLAGL1_uc003qkc.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkd.2_Missense_Mutation_p.E286K|PLAGL1_uc003qke.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkf.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkg.2_Missense_Mutation_p.E286K|PLAGL1_uc003qkh.2_Missense_Mutation_p.E338K|PLAGL1_uc003qki.2_Missense_Mutation_p.E286K|PLAGL1_uc003qkj.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkk.2_Missense_Mutation_p.E286K|PLAGL1_uc003qkl.2_Missense_Mutation_p.E286K|PLAGL1_uc003qkm.2_Missense_Mutation_p.E338K|PLAGL1_uc010khn.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkn.2_Missense_Mutation_p.E286K|PLAGL1_uc003qko.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkp.2_Missense_Mutation_p.E286K|PLAGL1_uc003qjw.2_Missense_Mutation_p.E286K	p.E338K	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)	3	2278	-			338					B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	c.1012G>A	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846424	0.71603	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000451709;ENST00000367572;ENST00000367571	T;T;T;T;T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87;3.9;3.9;3.9;2.87	5.8	5.8	0.92144	.	0.087653	0.49305	D	0.000154	T	0.05686	0.0149	L	0.29908	0.895	0.39971	D	0.974797	P	0.50617	0.937	B	0.43680	0.427	T	0.46816	-0.9164	10	0.18276	T	0.48	-37.3677	19.0385	0.92989	0.0:1.0:0.0:0.0	.	338	Q9UM63	PLAL1_HUMAN	K	338;338;338;338;338;338;286;286;127;286;338	ENSP00000353734:E338K;ENSP00000346810:E338K;ENSP00000400929:E338K;ENSP00000398409:E338K;ENSP00000376125:E338K;ENSP00000400060:E338K;ENSP00000392418:E286K;ENSP00000376124:E286K;ENSP00000356544:E286K;ENSP00000356543:E338K	ENSP00000346810:E338K	E	-	1	0	PLAGL1	144304634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.458000	0.53014	2.736000	0.93811	0.591000	0.81541	GAG		0.483	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1			59	62	0	0	0	0	59	62				
GRM1	2911	broad.mit.edu	37	6	146755382	146755382	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:146755382G>A	ENST00000282753.1	+	8	3270	c.3035G>A	c.(3034-3036)gGc>gAc	p.G1012D	GRM1_ENST00000361719.2_Missense_Mutation_p.G1012D|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1012					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTCCCCAAGGGCTTGCCCCCT	0.667																																						uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(3034-3036)GGC>GAC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						55.0	65.0	62.0					6																	146755382		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755382G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3035G>A	6.37:g.146755382G>A	ENSP00000282753:p.Gly1012Asp					GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.G1012D	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3505	+		Ovarian(120;0.0387)	1012			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3035G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	4.263	0.047962	0.08243	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87029	-2.2;-2.2	4.99	2.05	0.26809	.	1.995500	0.04000	U	0.296292	T	0.64778	0.2629	N	0.19112	0.55	0.38126	D	0.938004	B	0.02656	0.0	B	0.01281	0.0	T	0.19844	-1.0293	10	0.13108	T	0.6	.	13.0212	0.58789	0.0708:0.5854:0.3438:0.0	.	1012	Q13255	GRM1_HUMAN	D	1012	ENSP00000354896:G1012D;ENSP00000282753:G1012D	ENSP00000282753:G1012D	G	+	2	0	GRM1	146797075	0.999000	0.42202	0.998000	0.56505	0.761000	0.43186	2.024000	0.41049	0.094000	0.17404	0.456000	0.33151	GGC		0.667	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		26	105	0	0	0	0	26	105				
STXBP5	134957	broad.mit.edu	37	6	147635423	147635423	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:147635423T>A	ENST00000321680.6	+	13	1317	c.1317T>A	c.(1315-1317)aaT>aaA	p.N439K	STXBP5_ENST00000179882.6_Missense_Mutation_p.N110K|STXBP5_ENST00000367480.3_Missense_Mutation_p.N439K|STXBP5_ENST00000367481.3_Missense_Mutation_p.N439K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	439					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACGGAGGTAATTGGGGCTTGG	0.373																																						uc003qlz.2		NA																	0					0						c.(1315-1317)AAT>AAA		syntaxin binding protein 5 (tomosyn) isoform b							97.0	106.0	103.0					6																	147635423		2202	4300	6502	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147635423T>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1317T>A	6.37:g.147635423T>A	ENSP00000321826:p.Asn439Lys					STXBP5_uc010khz.1_Missense_Mutation_p.N439K|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.N110K	p.N439K	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	13	1478	+		Ovarian(120;0.0164)	439			WD 8.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.1317T>A	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	T	8.895	0.954836	0.18431	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	6.14	2.53	0.30540	WD40 repeat-like-containing domain (2);	0.041342	0.85682	D	0.000000	T	0.06188	0.0160	N	0.12746	0.255	0.51012	D	0.999907	P;B;B	0.49559	0.925;0.001;0.001	B;B;B	0.44163	0.443;0.006;0.005	T	0.10359	-1.0633	10	0.13470	T	0.59	.	6.0895	0.19987	0.0:0.2984:0.1323:0.5693	.	439;439;110	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	K	439;439;439;110	ENSP00000356451:N439K;ENSP00000321826:N439K;ENSP00000356450:N439K;ENSP00000179882:N110K	ENSP00000179882:N110K	N	+	3	2	STXBP5	147677116	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	3.280000	0.51677	0.573000	0.29400	0.529000	0.55759	AAT		0.373	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			41	132	0	0	0	0	41	132				
LRP11	84918	broad.mit.edu	37	6	150164231	150164231	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:150164231G>A	ENST00000239367.2	-	3	806	c.801C>T	c.(799-801)tcC>tcT	p.S267S	LRP11_ENST00000367368.2_Silent_p.S267S|LRP11_ENST00000546019.1_Silent_p.S12S	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	267	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CCTGTAGGTGGGACAGCTTCA	0.592																																						uc003qng.2		NA																	0					0						c.(799-801)TCC>TCT		low density lipoprotein receptor-related protein							123.0	94.0	104.0					6																	150164231		2203	4300	6503	SO:0001819	synonymous_variant	84918					integral to membrane	receptor activity	g.chr6:150164231G>A	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.801C>T	6.37:g.150164231G>A						LRP11_uc003qnh.1_Silent_p.S267S	p.S267S	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	3	1125	-		Ovarian(120;0.0907)	267			PKD.|Extracellular (Potential).		Q5VYC0|Q96SN6	Silent	SNP	ENST00000239367.2	37	c.801C>T	CCDS5220.1																																																																																				0.592	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		12	28	0	0	0	0	12	28				
ULBP2	80328	broad.mit.edu	37	6	150267511	150267512	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:150267511_150267512CC>TT	ENST00000367351.3	+	3	426_427	c.353_354CC>TT	c.(352-354)cCC>cTT	p.P118L		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	118	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GGGGCAGAACCCCTCACCCTGC	0.51																																						uc003qno.2		NA																	0					0						c.(352-354)CCC>CTT		UL16 binding protein 2 precursor																																				SO:0001583	missense	80328				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity	g.chr6:150267511_150267512CC>TT	AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	Exception_encountered	6.37:g.150267511_150267512delinsTT	ENSP00000356320:p.Pro118Leu					ULBP2_uc011eeh.1_Missense_Mutation_p.P118L|ULBP2_uc010kij.2_Missense_Mutation_p.P118L	p.P118L	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	426_427	+		Ovarian(120;0.0907)	118			MHC class I alpha-2 like.		Q5VUN4	Missense_Mutation	DNP	ENST00000367351.3	37	c.353_354CC>TT	CCDS5222.1																																																																																				0.510	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1			13	74	0	0	0	0	13	74				
PLEKHG1	57480	broad.mit.edu	37	6	151130814	151130814	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:151130814G>A	ENST00000358517.2	+	10	1433	c.1222G>A	c.(1222-1224)Gtt>Att	p.V408I	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.V408I			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	408	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACGCCTCTGGGTTCTGCACCT	0.493																																						uc003qny.1		NA																	0				ovary(2)	2						c.(1222-1224)GTT>ATT		pleckstrin homology domain containing, family G							78.0	69.0	72.0					6																	151130814		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151130814G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1222G>A	6.37:g.151130814G>A	ENSP00000351318:p.Val408Ile					PLEKHG1_uc011eel.1_Missense_Mutation_p.V448I|PLEKHG1_uc011eem.1_Missense_Mutation_p.V467I|PLEKHG1_uc003qnz.2_Missense_Mutation_p.V408I	p.V408I	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	11	1534	+			408			PH.		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1222G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	6.575	0.474372	0.12521	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.87029	-2.2;-2.2	5.91	2.78	0.32641	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.152888	0.56097	N	0.000021	T	0.51686	0.1689	N	0.20685	0.6	0.38086	D	0.93681	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.50432	-0.8829	10	0.05525	T	0.97	.	5.4008	0.16295	0.5217:0.0:0.4783:0.0	.	215;408;408	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	I	408	ENSP00000356297:V408I;ENSP00000351318:V408I	ENSP00000351318:V408I	V	+	1	0	PLEKHG1	151172507	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	4.398000	0.59697	0.822000	0.34565	-0.136000	0.14681	GTT		0.493	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			9	40	0	0	0	0	9	40				
PLEKHG1	57480	broad.mit.edu	37	6	151151947	151151947	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:151151947C>T	ENST00000358517.2	+	15	1911	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.S567F			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	567							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGTCATTTTCCTCCTCAGAT	0.517																																						uc003qny.1		NA																	0				ovary(2)	2						c.(1699-1701)TCC>TTC		pleckstrin homology domain containing, family G							152.0	132.0	139.0					6																	151151947		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151151947C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1700C>T	6.37:g.151151947C>T	ENSP00000351318:p.Ser567Phe					PLEKHG1_uc011eel.1_Missense_Mutation_p.S607F|PLEKHG1_uc011eem.1_Missense_Mutation_p.S626F|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S567F	p.S567F	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2012	+			567					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1700C>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696358	0.68386	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.63255	-0.03;-0.03	5.09	5.09	0.68999	.	0.227166	0.46758	D	0.000276	T	0.74527	0.3728	M	0.68952	2.095	0.42273	D	0.992062	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.947;0.996;0.996	T	0.78086	-0.2341	10	0.87932	D	0	.	18.5155	0.90934	0.0:1.0:0.0:0.0	.	374;567;567	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	F	567	ENSP00000356297:S567F;ENSP00000351318:S567F	ENSP00000351318:S567F	S	+	2	0	PLEKHG1	151193640	1.000000	0.71417	0.999000	0.59377	0.842000	0.47809	5.568000	0.67385	2.355000	0.79922	0.561000	0.74099	TCC		0.517	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			32	68	0	0	0	0	32	68				
C6orf211	79624	broad.mit.edu	37	6	151779649	151779649	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:151779649C>T	ENST00000367294.3	+	3	593	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	112										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GTTCTACTCACCGTGGTTGTT	0.328																																						uc003qok.1		NA																	0					0						c.(334-336)CCG>TCG		hypothetical protein LOC79624							104.0	103.0	103.0					6																	151779649		2203	4299	6502	SO:0001583	missense	79624						protein binding	g.chr6:151779649C>T	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.334C>T	6.37:g.151779649C>T	ENSP00000356263:p.Pro112Ser					C6orf211_uc011ees.1_5'UTR	p.P112S	NM_024573	NP_078849	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	3	593	+			112					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.334C>T	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584151	0.65992	.	.	ENSG00000146476	ENST00000367294	T	0.08102	3.13	5.69	5.69	0.88448	Domain of unknown function DUF89 (2);	0.051402	0.85682	D	0.000000	T	0.13286	0.0322	L	0.52206	1.635	0.80722	D	1	P	0.41848	0.763	P	0.53689	0.732	T	0.01273	-1.1399	10	0.38643	T	0.18	.	19.8155	0.96566	0.0:1.0:0.0:0.0	.	112	Q9H993	CF211_HUMAN	S	112	ENSP00000356263:P112S	ENSP00000356263:P112S	P	+	1	0	C6orf211	151821342	1.000000	0.71417	0.075000	0.20258	0.797000	0.45037	5.999000	0.70665	2.691000	0.91804	0.563000	0.77884	CCG		0.328	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		27	31	0	0	0	0	27	31				
TIAM2	26230	broad.mit.edu	37	6	155486520	155486520	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:155486520G>A	ENST00000461783.3	+	11	3611	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	TIAM2_ENST00000360366.4_Missense_Mutation_p.E780K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E132K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E92K|TIAM2_ENST00000528391.2_Missense_Mutation_p.E92K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E780K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E780K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E780K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	780					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAAAGGCAAGGAGAAGAGACC	0.463																																						uc003qqb.2		NA																	0				ovary(3)|breast(1)	4						c.(2338-2340)GAG>AAG		T-cell lymphoma invasion and metastasis 2							72.0	68.0	70.0					6																	155486520		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155486520G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2338G>A	6.37:g.155486520G>A	ENSP00000437188:p.Glu780Lys					TIAM2_uc003qqe.2_Missense_Mutation_p.E780K|TIAM2_uc010kjj.2_Missense_Mutation_p.E313K|TIAM2_uc003qqf.2_Missense_Mutation_p.E132K|TIAM2_uc011efl.1_Missense_Mutation_p.E92K|TIAM2_uc003qqg.2_Missense_Mutation_p.E92K	p.E780K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	11	3611	+		Ovarian(120;0.196)	780					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2338G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938622	0.73557	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.05319	3.63;3.53;3.59;3.63;3.5;3.64;3.59;3.46;3.5	5.01	5.01	0.66863	.	0.133058	0.53938	D	0.000047	T	0.06280	0.0162	L	0.37630	1.12	0.53005	D	0.999962	B;P;P;P	0.51791	0.007;0.911;0.948;0.77	B;P;P;B	0.49999	0.007;0.533;0.628;0.26	T	0.44620	-0.9316	10	0.36615	T	0.2	.	18.6945	0.91596	0.0:0.0:1.0:0.0	.	92;780;780;780	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	K	780;1026;780;780;780;132;780;780;92;92	ENSP00000437188:E780K;ENSP00000434901:E780K;ENSP00000407746:E780K;ENSP00000327315:E780K;ENSP00000356142:E132K;ENSP00000353528:E780K;ENSP00000433348:E780K;ENSP00000407183:E92K;ENSP00000435335:E92K	ENSP00000327315:E780K	E	+	1	0	TIAM2	155528212	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.043000	0.93799	2.481000	0.83766	0.655000	0.94253	GAG		0.463	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		20	78	0	0	0	0	20	78				
TFB1M	51106	broad.mit.edu	37	6	155618126	155618126	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:155618126T>C	ENST00000367166.4	-	4	562	c.507A>G	c.(505-507)agA>agG	p.R169R		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TCATCTGAGTTCTGCCATAAA	0.323																																						uc003qqj.3		NA																	0				skin(1)	1						c.(505-507)AGA>AGG		transcription factor B1, mitochondrial							82.0	82.0	82.0					6																	155618126		2203	4300	6503	SO:0001819	synonymous_variant	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155618126T>C	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.507A>G	6.37:g.155618126T>C						TFB1M_uc003qqk.2_Intron	p.R169R	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	4	571	-		Ovarian(120;0.196)	169					Q05DR0|Q9Y384	Silent	SNP	ENST00000367166.4	37	c.507A>G	CCDS5248.1																																																																																				0.323	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			16	29	0	0	0	0	16	29				
ARID1B	57492	broad.mit.edu	37	6	157405953	157405953	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:157405953C>T	ENST00000350026.5	+	5	2157	c.2156C>T	c.(2155-2157)cCg>cTg	p.P719L	ARID1B_ENST00000346085.5_Missense_Mutation_p.P732L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P661L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P719L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	719	Ser-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCAGCATCCCGGGGGGCCCA	0.597																																						uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(1981-1983)CCG>CTG		AT rich interactive domain 1B (SWI1-like)							74.0	73.0	73.0					6																	157405953		2203	4300	6503	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157405953C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2156C>T	6.37:g.157405953C>T	ENSP00000055163:p.Pro719Leu					ARID1B_uc003qqo.2_Missense_Mutation_p.P674L|ARID1B_uc003qqp.2_Missense_Mutation_p.P661L|ARID1B_uc003qqq.1_Missense_Mutation_p.P103L	p.P661L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	5	2134	+		Breast(66;0.000162)|Ovarian(120;0.0265)	719			Ser-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.1982C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640858	0.67244	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.65	5.65	0.86999	.	0.065468	0.64402	D	0.000009	T	0.14787	0.0357	N	0.08118	0	0.48040	D	0.999575	D;P;P;P	0.71674	0.998;0.913;0.948;0.948	P;B;B;B	0.60789	0.879;0.158;0.301;0.301	T	0.14008	-1.0488	10	0.49607	T	0.09	.	14.5623	0.68148	0.1461:0.8538:0.0:0.0	.	103;719;732;661	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	L	732;719;719;661;140;103;218;141	ENSP00000344546:P732L;ENSP00000055163:P719L;ENSP00000356116:P719L;ENSP00000275248:P661L;ENSP00000412835:P218L;ENSP00000313006:P141L	ENSP00000275248:P661L	P	+	2	0	ARID1B	157447645	0.953000	0.32496	0.990000	0.47175	0.926000	0.56050	2.452000	0.44961	2.652000	0.90054	0.650000	0.86243	CCG		0.597	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		9	77	0	0	0	0	9	77				
SERAC1	84947	broad.mit.edu	37	6	158538839	158538839	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:158538839T>C	ENST00000367104.3	-	13	1454	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	SERAC1_ENST00000367102.2_Silent_p.K441K|SERAC1_ENST00000367101.1_Silent_p.K441K	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	441					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CAGGACAGTCTTTTGCTAACC	0.403																																						uc003qrc.2		NA																	0					0						c.(1321-1323)AAA>AAG		serine active site containing 1							97.0	93.0	94.0					6																	158538839		2203	4300	6503	SO:0001819	synonymous_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158538839T>C	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1323A>G	6.37:g.158538839T>C						SERAC1_uc003qrb.2_Silent_p.K169K	p.K441K	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	13	1465	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	441					Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	c.1323A>G	CCDS5255.1																																																																																				0.403	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		20	80	0	0	0	0	20	80				
TULP4	56995	broad.mit.edu	37	6	158922890	158922890	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:158922890G>C	ENST00000367097.3	+	13	3552	c.2195G>C	c.(2194-2196)gGg>gCg	p.G732A	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	732					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACAGCTGTAGGGACAGCAGAA	0.572																																						uc003qrf.2		NA																	0				ovary(1)	1						c.(2194-2196)GGG>GCG		tubby like protein 4 isoform 1							187.0	166.0	173.0					6																	158922890		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158922890G>C		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2195G>C	6.37:g.158922890G>C	ENSP00000356064:p.Gly732Ala					TULP4_uc003qrg.2_Intron	p.G732A	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3552	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	732					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.2195G>C	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	5.644	0.303504	0.10678	.	.	ENSG00000130338	ENST00000367097	T	0.60424	0.19	5.64	5.64	0.86602	.	0.055257	0.64402	D	0.000001	T	0.23649	0.0572	N	0.16903	0.455	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.10543	-1.0625	10	0.13853	T	0.58	-27.1774	14.197	0.65677	0.0:0.2679:0.7321:0.0	.	732	Q9NRJ4	TULP4_HUMAN	A	732	ENSP00000356064:G732A	ENSP00000356064:G732A	G	+	2	0	TULP4	158842878	1.000000	0.71417	0.001000	0.08648	0.480000	0.33159	3.096000	0.50243	2.659000	0.90383	0.650000	0.86243	GGG		0.572	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		22	106	0	0	0	0	22	106				
SYTL3	94120	broad.mit.edu	37	6	159184341	159184341	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:159184341T>A	ENST00000297239.9	+	16	1717	c.1523T>A	c.(1522-1524)cTc>cAc	p.L508H	MIR3918_ENST00000581555.1_RNA|SYTL3_ENST00000367081.3_Missense_Mutation_p.L234H|SYTL3_ENST00000360448.3_Missense_Mutation_p.L440H			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	508	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTCAGCTGTCTCACTCTGCCA	0.532																																						uc003qrp.2		NA																	0					0						c.(1522-1524)CTC>CAC		synaptotagmin-like 3							81.0	77.0	78.0					6																	159184341		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159184341T>A	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1523T>A	6.37:g.159184341T>A	ENSP00000297239:p.Leu508His					SYTL3_uc011efp.1_Missense_Mutation_p.L508H|SYTL3_uc003qro.2_Missense_Mutation_p.L440H|SYTL3_uc003qrq.2_Missense_Mutation_p.L440H|SYTL3_uc003qrr.2_Missense_Mutation_p.L508H|SYTL3_uc003qrs.2_Missense_Mutation_p.L440H|SYTL3_uc011efq.1_Missense_Mutation_p.L234H	p.L508H	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	16	1767	+		Breast(66;0.000776)|Ovarian(120;0.0303)	508			C2 2.		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1523T>A	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498699	0.85069	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.07444	3.19;3.19;3.19	5.43	5.43	0.79202	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	1.022120	0.07814	N	0.958723	T	0.32376	0.0827	M	0.92412	3.305	0.46849	D	0.999228	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.976	T	0.02654	-1.1128	10	0.87932	D	0	.	14.3554	0.66733	0.0:0.0:0.0:1.0	.	234;508;440	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	H	440;508;508;234	ENSP00000353631:L440H;ENSP00000297239:L508H;ENSP00000356048:L234H	ENSP00000297239:L508H	L	+	2	0	SYTL3	159104329	0.992000	0.36948	1.000000	0.80357	0.876000	0.50452	5.359000	0.66074	2.190000	0.69967	0.455000	0.32223	CTC		0.532	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			6	34	0	0	0	0	6	34				
SLC22A2	6582	broad.mit.edu	37	6	160679479	160679479	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:160679479A>C	ENST00000366953.3	-	1	569	c.311T>G	c.(310-312)gTg>gGg	p.V104G	SLC22A2_ENST00000366952.1_Missense_Mutation_p.V83G|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	104					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CAGGGGGTCCACGCAGTCGAA	0.682																																						uc003qtf.2		NA																	0				breast(1)|skin(1)	2						c.(310-312)GTG>GGG		solute carrier family 22 member 2							60.0	66.0	64.0					6																	160679479		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679479A>C	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.311T>G	6.37:g.160679479A>C	ENSP00000355920:p.Val104Gly					SLC22A2_uc003qte.1_Missense_Mutation_p.V104G|SLC22A2_uc003qth.1_Missense_Mutation_p.V104G	p.V104G	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	1	481	-		Breast(66;0.000776)|Ovarian(120;0.0303)	104			Extracellular (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.311T>G	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.415254	0.42817	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.73258	-0.73;-0.67	5.36	-1.5	0.08691	Major facilitator superfamily domain (1);	0.782790	0.12208	N	0.489580	T	0.32194	0.0821	N	0.25031	0.7	0.39166	D	0.962504	P;P;P	0.39940	0.551;0.464;0.696	B;B;B	0.43990	0.438;0.395;0.333	T	0.34030	-0.9845	10	0.16420	T	0.52	.	1.4843	0.02444	0.2679:0.1754:0.3853:0.1714	.	104;104;104	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	G	104;83	ENSP00000355920:V104G;ENSP00000355919:V83G	ENSP00000355919:V83G	V	-	2	0	SLC22A2	160599469	0.935000	0.31712	0.998000	0.56505	0.741000	0.42261	0.212000	0.17497	-0.120000	0.11809	-0.261000	0.10672	GTG		0.682	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		16	65	0	0	0	0	16	65				
LPA	4018	broad.mit.edu	37	6	161071470	161071470	+	Nonsense_Mutation	SNP	G	G	A	rs121912503		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:161071470G>A	ENST00000316300.5	-	2	153	c.109C>T	c.(109-111)Cga>Tga	p.R37*	LPA_ENST00000447678.1_Nonsense_Mutation_p.R37*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	2545	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TACGTGCCTCGATAACTCTGT	0.453																																						uc003qtl.2		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(109-111)CGA>TGA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						216.0	223.0	221.0					6																	161071470		2203	4300	6503	SO:0001587	stop_gained	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161071470G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.109C>T	6.37:g.161071470G>A	ENSP00000321334:p.Arg37*						p.R37*	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	3	229	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	2545			Kringle 23.		Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	c.109C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	13.22	2.171079	0.38315	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.72	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0412	0.36319	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000321334:R37X	R	-	1	2	LPA	160991460	0.994000	0.37717	0.111000	0.21465	0.026000	0.11368	3.059000	0.49947	1.524000	0.49035	0.505000	0.49811	CGA		0.453	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		52	225	0	0	0	0	52	225				
RPS6KA2	6196	broad.mit.edu	37	6	166921708	166921708	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:166921708T>G	ENST00000265678.4	-	5	665	c.442A>C	c.(442-444)Acc>Ccc	p.T148P	MIR1913_ENST00000411026.1_RNA|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.T59P|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T156P|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.T173P|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.T59P	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	148	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GAGAGCCGGGTGAAGAGGTCC	0.612																																						uc003qvb.1		NA																	0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(442-444)ACC>CCC		ribosomal protein S6 kinase, 90kDa, polypeptide							69.0	62.0	64.0					6																	166921708		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166921708T>G	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.442A>C	6.37:g.166921708T>G	ENSP00000265678:p.Thr148Pro					RPS6KA2_uc011ego.1_Missense_Mutation_p.T59P|RPS6KA2_uc010kkl.1_Missense_Mutation_p.T59P|RPS6KA2_uc003qvc.1_Missense_Mutation_p.T156P|RPS6KA2_uc003qvd.1_Missense_Mutation_p.T173P	p.T148P	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	5	661	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	148			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.442A>C	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111156	0.77210	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189;ENST00000507350;ENST00000512860;ENST00000507371	T;T;T;T;T;T;T;T	0.66638	1.8;1.8;1.8;1.8;1.8;1.8;1.8;-0.22	4.65	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.123605	0.53938	D	0.000048	T	0.62258	0.2413	L	0.41027	1.25	0.80722	D	1	D;D;D	0.59767	0.959;0.986;0.957	P;P;P	0.58130	0.833;0.832;0.68	T	0.68872	-0.5294	10	0.87932	D	0	.	12.2957	0.54844	0.0:0.0:0.0:1.0	.	173;156;148	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	P	148;173;156;59;59;59;59;132	ENSP00000265678:T148P;ENSP00000422435:T173P;ENSP00000427015:T156P;ENSP00000422484:T59P;ENSP00000386050:T59P;ENSP00000422197:T59P;ENSP00000427605:T59P;ENSP00000423114:T132P	ENSP00000265678:T148P	T	-	1	0	RPS6KA2	166841698	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.403000	0.79983	1.862000	0.54008	0.402000	0.26972	ACC		0.612	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		6	26	0	0	0	0	6	26				
SMOC2	64094	broad.mit.edu	37	6	169053673	169053673	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:169053673G>A	ENST00000356284.2	+	11	1270	c.1050G>A	c.(1048-1050)cgG>cgA	p.R350R	SMOC2_ENST00000354536.5_Silent_p.R361R	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	350	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TAGAGGAGCGGGTGGTGCACT	0.517																																						uc003qws.1		NA																	0				ovary(1)	1						c.(1048-1050)CGG>CGA		SPARC related modular calcium binding 2							48.0	51.0	50.0					6																	169053673		2203	4300	6503	SO:0001819	synonymous_variant	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:169053673G>A	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.1050G>A	6.37:g.169053673G>A						SMOC2_uc003qwr.1_Silent_p.R361R|SMOC2_uc011egu.1_Silent_p.R27R	p.R350R	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	11	1070	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	350			EF-hand 1.		B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	c.1050G>A	CCDS55076.1																																																																																				0.517	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			17	32	0	0	0	0	17	32				
WDR27	253769	broad.mit.edu	37	6	170088966	170088966	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:170088966G>A	ENST00000448612.1	-	2	245	c.136C>T	c.(136-138)Cct>Tct	p.P46S	WDR27_ENST00000423258.1_Missense_Mutation_p.P46S|WDR27_ENST00000420344.2_Missense_Mutation_p.P46S|WDR27_ENST00000333572.6_Missense_Mutation_p.P46S	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	46						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCATCCAAAGGGAAAGCACAG	0.433																																						uc003qwx.2		NA																	0				pancreas(1)	1						c.(136-138)CCT>TCT		RecName: Full=WD repeat-containing protein 27;							157.0	153.0	154.0					6																	170088966		2016	4203	6219	SO:0001583	missense	253769							g.chr6:170088966G>A	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.136C>T	6.37:g.170088966G>A	ENSP00000416289:p.Pro46Ser					WDR27_uc010kkw.1_Missense_Mutation_p.P46S|WDR27_uc003qwy.2_Missense_Mutation_p.P46S|WDR27_uc011egw.1_RNA|WDR27_uc010kkx.2_Missense_Mutation_p.P46S	p.P46S			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	2	656	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	46			WD 1.		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.136C>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060524	0.55432	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258;ENST00000420344;ENST00000474018	T;T;T;T	0.61274	0.45;0.76;1.63;0.12	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.61800	0.2376	L	0.41710	1.295	0.42028	D	0.991013	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	T	0.59026	-0.7531	9	.	.	.	-30.3285	17.2358	0.86998	0.0:0.0:1.0:0.0	.	46;46;46;46	A2RRH5-3;F2Z2U5;A2RRH5-2;C9JGV0	.;.;.;.	S	46	ENSP00000416289:P46S;ENSP00000330265:P46S;ENSP00000397869:P46S;ENSP00000406114:P46S	.	P	-	1	0	WDR27	169830891	1.000000	0.71417	0.985000	0.45067	0.080000	0.17528	4.948000	0.63590	2.588000	0.87417	0.655000	0.94253	CCT		0.433	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		21	106	0	0	0	0	21	106				
DLL1	28514	broad.mit.edu	37	6	170595353	170595353	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:170595353C>T	ENST00000366756.3	-	5	1037	c.704G>A	c.(703-705)gGa>gAa	p.G235E		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	235	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GTCACAAAATCCATGCTGCTC	0.483																																						uc003qxm.2		NA																	0				lung(4)|ovary(1)	5						c.(703-705)GGA>GAA		delta-like 1 precursor							175.0	150.0	159.0					6																	170595353		2203	4300	6503	SO:0001583	missense	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170595353C>T	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.704G>A	6.37:g.170595353C>T	ENSP00000355718:p.Gly235Glu						p.G235E	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	5	1174	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	235			Extracellular (Potential).|EGF-like 1.		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.704G>A	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839245	0.71373	.	.	ENSG00000198719	ENST00000366756	T	0.25579	1.79	5.01	5.01	0.66863	Epidermal growth factor-like (1);	0.000000	0.85682	U	0.000000	T	0.64735	0.2625	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.81055	-0.1106	10	0.87932	D	0	.	18.307	0.90185	0.0:1.0:0.0:0.0	.	235	O00548	DLL1_HUMAN	E	235	ENSP00000355718:G235E	ENSP00000355718:G235E	G	-	2	0	DLL1	170437278	1.000000	0.71417	0.322000	0.25334	0.453000	0.32348	7.390000	0.79816	2.330000	0.79161	0.655000	0.94253	GGA		0.483	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			20	72	0	0	0	0	20	72				
LFNG	3955	broad.mit.edu	37	7	2559921	2559921	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:2559921G>A	ENST00000222725.5	+	1	446	c.426G>A	c.(424-426)aaG>aaA	p.K142K	LFNG_ENST00000359574.3_Silent_p.K142K|LFNG_ENST00000338732.3_Intron|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000402506.1_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	142					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CGCGCCACAAGGAGATGGTGA	0.682																																						uc003smf.2		NA																	0					0						c.(424-426)AAG>AAA		lunatic fringe isoform a							16.0	20.0	19.0					7																	2559921		2015	4124	6139	SO:0001819	synonymous_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2559921G>A	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.426G>A	7.37:g.2559921G>A						LFNG_uc003smg.2_Silent_p.K142K	p.K142K	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	1	443	+		Ovarian(82;0.0112)	142			Lumenal (Potential).		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Silent	SNP	ENST00000222725.5	37	c.426G>A	CCDS34587.1																																																																																				0.682	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		12	43	0	0	0	0	12	43				
IQCE	23288	broad.mit.edu	37	7	2645612	2645612	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:2645612C>T	ENST00000402050.2	+	20	2030	c.1846C>T	c.(1846-1848)Ctg>Ttg	p.L616L	IQCE_ENST00000325979.7_Silent_p.L551L|IQCE_ENST00000438376.2_Silent_p.L600L|IQCE_ENST00000404984.1_Silent_p.L565L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	616	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCGGGCACACCTGGCCCGGGC	0.706																																						uc003smo.3		NA																	0					0						c.(1846-1848)CTG>TTG		IQ motif containing E isoform 1							29.0	36.0	34.0					7																	2645612		2114	4238	6352	SO:0001819	synonymous_variant	23288							g.chr7:2645612C>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1846C>T	7.37:g.2645612C>T						IQCE_uc003sml.1_Silent_p.L616L|IQCE_uc011jvy.1_Silent_p.L600L|IQCE_uc011jvz.1_Silent_p.L551L|IQCE_uc003smk.3_Silent_p.L600L|IQCE_uc003smn.3_Silent_p.L551L	p.L616L	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	20	2030	+		Ovarian(82;0.0112)	616			IQ 2.		Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	c.1846C>T	CCDS43542.1																																																																																				0.706	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		4	47	0	0	0	0	4	47				
SDK1	221935	broad.mit.edu	37	7	4153028	4153028	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4153028C>T	ENST00000404826.2	+	24	3681	c.3542C>T	c.(3541-3543)aCg>aTg	p.T1181M	SDK1_ENST00000389531.3_Missense_Mutation_p.T1181M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1181	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T1181M(3)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCAGCGTCACGGTCCGTACT	0.647																																						uc003smx.2		NA																	3	Substitution - Missense(3)		large_intestine(3)	large_intestine(3)|ovary(2)|skin(1)	6						c.(3541-3543)ACG>ATG		sidekick 1 precursor							101.0	107.0	105.0					7																	4153028		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4153028C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3542C>T	7.37:g.4153028C>T	ENSP00000385899:p.Thr1181Met					SDK1_uc010kso.2_Missense_Mutation_p.T457M	p.T1181M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	24	3681	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1181			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3542C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177758	0.57692	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.59638	0.25;0.25	4.92	4.04	0.47022	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.339119	0.27976	N	0.017099	T	0.75882	0.3910	M	0.87971	2.92	0.44181	D	0.996997	D;D	0.89917	0.999;1.0	P;D	0.67103	0.891;0.949	T	0.79412	-0.1814	10	0.87932	D	0	.	10.8848	0.46960	0.0:0.7979:0.1297:0.0724	.	1181;1181	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	1181	ENSP00000385899:T1181M;ENSP00000374182:T1181M	ENSP00000374182:T1181M	T	+	2	0	SDK1	4119554	1.000000	0.71417	0.607000	0.28956	0.505000	0.33919	4.552000	0.60747	1.213000	0.43380	-0.126000	0.14955	ACG		0.647	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		26	193	0	0	0	0	26	193				
SDK1	221935	broad.mit.edu	37	7	4272892	4272892	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4272892G>A	ENST00000404826.2	+	41	5972	c.5833G>A	c.(5833-5835)Ggc>Agc	p.G1945S	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Missense_Mutation_p.G1925S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1945	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G1945C(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCAGATGAAGGCTTATGGGA	0.592																																						uc003smx.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(5833-5835)GGC>AGC		sidekick 1 precursor							86.0	75.0	79.0					7																	4272892		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4272892G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5833G>A	7.37:g.4272892G>A	ENSP00000385899:p.Gly1945Ser					SDK1_uc010kso.2_Missense_Mutation_p.G1201S|SDK1_uc003smy.2_Missense_Mutation_p.G432S|SDK1_uc003smz.2_Missense_Mutation_p.G5S	p.G1945S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	41	5972	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1945			Fibronectin type-III 13.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.5833G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427442	0.83667	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.58940	0.3;0.3	4.6	4.6	0.57074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.69233	0.3088	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	1.0;1.0;0.971;1.0	T	0.63712	-0.6575	10	0.14656	T	0.56	.	17.7827	0.88528	0.0:0.0:1.0:0.0	.	1925;5;432;1945	F8W6X9;Q7Z5N4-2;F2Z3E9;Q7Z5N4	.;.;.;SDK1_HUMAN	S	1945;193;1925	ENSP00000385899:G1945S;ENSP00000374182:G1925S	ENSP00000374182:G1925S	G	+	1	0	SDK1	4239418	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.659000	0.98597	2.252000	0.74401	0.655000	0.94253	GGC		0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		41	59	0	0	0	0	41	59				
RADIL	55698	broad.mit.edu	37	7	4874565	4874566	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4874565_4874566GG>AA	ENST00000399583.3	-	4	1275_1276	c.1088_1089CC>TT	c.(1087-1089)cCC>cTT	p.P363L	RADIL_ENST00000538469.1_Missense_Mutation_p.P123L|RADIL_ENST00000536091.1_Missense_Mutation_p.P363L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	363	FHA.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGCGGGCAGGGGCTGGGCCTG	0.752																																						uc003snj.1		NA																	0				lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(1087-1089)CCC>CTT		Rap GTPase interactor																																				SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4874565_4874566GG>AA	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1088_1089delinsAA	7.37:g.4874565_4874566delinsAA	ENSP00000382492:p.Pro363Leu					RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Missense_Mutation_p.P123L|RADIL_uc011jwd.1_RNA	p.P363L	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	4	1261_1262	-		Ovarian(82;0.0175)	363			FHA.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	DNP	ENST00000399583.3	37	c.1088_1089CC>TT	CCDS43544.1																																																																																				0.752	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		4	17	0	0	0	0	4	17				
PAPOLB	56903	broad.mit.edu	37	7	4901389	4901389	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4901389G>A	ENST00000404991.1	-	1	236	c.50C>T	c.(49-51)cCg>cTg	p.P17L	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	17					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GTAGCGATTCGGCGGCGGCGC	0.672																																						uc003snk.2		NA																	0				ovary(1)	1						c.(52-54)CCG>CTG		poly(A) polymerase beta (testis specific)							10.0	11.0	10.0					7																	4901389		1938	4121	6059	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901389G>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.50C>T	7.37:g.4901389G>A	ENSP00000384700:p.Pro17Leu					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.P18L	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	237	-		Ovarian(82;0.0175)	17					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.53C>T		.	.	.	.	.	.	.	.	.	.	G	7.521	0.656614	0.14580	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.06	-3.83	0.04269	.	.	.	.	.	T	0.20210	0.0486	N	0.19112	0.55	0.24473	N	0.994388	P	0.51933	0.949	P	0.48921	0.595	T	0.15896	-1.0421	8	0.33141	T	0.24	.	5.6093	0.17396	0.103:0.0864:0.5573:0.2533	.	18	A4D1Z6	.	L	17	.	ENSP00000384700:P17L	P	-	2	0	PAPOLB	4867915	1.000000	0.71417	0.003000	0.11579	0.005000	0.04900	0.964000	0.29306	-0.771000	0.04608	-0.347000	0.07816	CCG		0.672	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		9	13	0	0	0	0	9	13				
TNRC18	84629	broad.mit.edu	37	7	5410575	5410575	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:5410575G>A	ENST00000430969.1	-	11	3998	c.3650C>T	c.(3649-3651)tCt>tTt	p.S1217F	TNRC18_ENST00000399537.4_Missense_Mutation_p.S1217F	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1217							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGGACACTCAGAGGGCTCTGC	0.692																																						uc003soi.3		NA																	0					0						c.(3649-3651)TCT>TTT		trinucleotide repeat containing 18							30.0	38.0	35.0					7																	5410575		2013	4173	6186	SO:0001583	missense	84629						DNA binding	g.chr7:5410575G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3650C>T	7.37:g.5410575G>A	ENSP00000395538:p.Ser1217Phe						p.S1217F	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	11	3999	-		Ovarian(82;0.142)	1217					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.3650C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	G	2.546	-0.305114	0.05495	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.12465	2.68;2.68	4.95	2.91	0.33838	.	1.293420	0.05539	N	0.565308	T	0.15262	0.0368	L	0.56769	1.78	0.09310	N	1	B	0.31730	0.337	B	0.22601	0.04	T	0.19386	-1.0307	10	0.66056	D	0.02	.	8.0684	0.30674	0.0:0.1247:0.5973:0.278	.	1217	O15417	TNC18_HUMAN	F	1217;1217;272;272	ENSP00000382452:S1217F;ENSP00000395538:S1217F	ENSP00000330383:S272F	S	-	2	0	TNRC18	5377101	0.083000	0.21467	0.011000	0.14972	0.230000	0.25150	0.332000	0.19751	2.283000	0.76528	0.462000	0.41574	TCT		0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				11	82	0	0	0	0	11	82				
AIMP2	7965	broad.mit.edu	37	7	6063300	6063300	+	Missense_Mutation	SNP	C	C	T	rs372238513		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:6063300C>T	ENST00000223029.3	+	4	1060	c.941C>T	c.(940-942)aCg>aTg	p.T314M	AIMP2_ENST00000400479.2_Missense_Mutation_p.T236M|AIMP2_ENST00000395236.2_Missense_Mutation_p.T245M|EIF2AK1_ENST00000536084.1_3'UTR|EIF2AK1_ENST00000199389.6_3'UTR	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	314	GST C-terminal.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTTTTAACACGGCCCTCAAG	0.468																																						uc003spo.2		NA																	0				ovary(1)	1						c.(940-942)ACG>ATG		aminoacyl tRNA synthetase complex-interacting		C	MET/THR,,	0,4406		0,0,2203	91.0	78.0	82.0		941,,	1.3	0.0	7		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,utr-3	AIMP2,EIF2AK1	NM_006303.3,NM_001134335.1,NM_014413.3	81,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,,	314/321,,	6063300	1,13005	2203	4300	6503	SO:0001583	missense	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6063300C>T	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.941C>T	7.37:g.6063300C>T	ENSP00000223029:p.Thr314Met					EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR|EIF2AK1_uc011jwm.1_3'UTR	p.T314M	NM_006303	NP_006294	Q13155	AIMP2_HUMAN			4	1054	+			314			GST C-terminal.		Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	ENST00000223029.3	37	c.941C>T	CCDS5344.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998824	0.35226	0.0	1.16E-4	ENSG00000106305	ENST00000223029;ENST00000400479;ENST00000395236	T;T;T	0.31510	1.49;1.49;1.49	5.35	1.3	0.21679	Glutathione S-transferase, C-terminal-like (1);	0.805250	0.12113	N	0.498334	T	0.28101	0.0693	L	0.47716	1.5	0.09310	N	1	P	0.48834	0.916	P	0.46144	0.505	T	0.15435	-1.0437	10	0.72032	D	0.01	-4.5786	4.1676	0.10313	0.1176:0.5218:0.227:0.1336	.	314	Q13155	AIMP2_HUMAN	M	314;236;245	ENSP00000223029:T314M;ENSP00000383327:T236M;ENSP00000378658:T245M	ENSP00000223029:T314M	T	+	2	0	AIMP2	6029826	0.000000	0.05858	0.014000	0.15608	0.548000	0.35241	0.418000	0.21230	0.634000	0.30469	-0.310000	0.09108	ACG		0.468	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		14	76	0	0	0	0	14	76				
COL28A1	340267	broad.mit.edu	37	7	7516750	7516750	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:7516750C>T	ENST00000399429.3	-	14	1366	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	409					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TACCTTTGGTCCTGGAAATCC	0.463																																						uc003src.1		NA																	0		p.G409R(1)		skin(3)	3						c.(1225-1227)GGA>GAA		collagen, type XXVIII precursor							73.0	75.0	75.0					7																	7516750		1856	4094	5950	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7516750C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1226G>A	7.37:g.7516750C>T	ENSP00000382356:p.Gly409Glu					COL28A1_uc011jxe.1_Missense_Mutation_p.G92E|COL28A1_uc003srd.2_5'UTR	p.G409E	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	14	1343	-		Ovarian(82;0.0789)	409					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1226G>A	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522265	0.64747	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.96992	-4.2	4.94	3.14	0.36123	.	0.000000	0.53938	U	0.000053	D	0.98150	0.9389	H	0.97077	3.935	0.36450	D	0.865996	D;D	0.60160	0.987;0.978	P;P	0.60236	0.871;0.746	D	0.98660	1.0683	10	0.87932	D	0	-6.4785	7.3642	0.26764	0.0:0.804:0.0:0.196	.	409;409	Q2UY09-2;Q2UY09	.;COSA1_HUMAN	E	409	ENSP00000382356:G409E	ENSP00000382347:G409E	G	-	2	0	COL28A1	7483275	0.983000	0.35010	0.998000	0.56505	0.992000	0.81027	2.694000	0.47035	0.808000	0.34231	0.491000	0.48974	GGA		0.463	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		44	73	0	0	0	0	44	73				
ICA1	3382	broad.mit.edu	37	7	8167554	8167554	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:8167554G>A	ENST00000402384.3	-	13	1545	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	ICA1_ENST00000265577.7_Missense_Mutation_p.P426S|ICA1_ENST00000422063.2_Missense_Mutation_p.P456S|ICA1_ENST00000401396.1_Missense_Mutation_p.P415S|ICA1_ENST00000406470.2_Missense_Mutation_p.P427S|ICA1_ENST00000396675.3_Missense_Mutation_p.P427S			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	427					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)		AGCTGCGAAGGAAGGAAACCT	0.517																																						uc003srm.2		NA																	0				central_nervous_system(1)	1						c.(1279-1281)CCT>TCT		islet cell autoantigen 1							144.0	159.0	154.0					7																	8167554		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.chr7:8167554G>A		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.1279C>T	7.37:g.8167554G>A	ENSP00000385570:p.Pro427Ser					ICA1_uc010ktr.2_Missense_Mutation_p.P456S|ICA1_uc003srl.2_Missense_Mutation_p.P415S|ICA1_uc003srn.3_Missense_Mutation_p.P353S|ICA1_uc003srp.3_Missense_Mutation_p.P426S|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.P427S|ICA1_uc003srr.2_Missense_Mutation_p.P426S|ICA1_uc003sro.3_Missense_Mutation_p.P427S	p.P427S	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	13	1346	-		Ovarian(82;0.0612)	427					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.1279C>T	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166840	0.57476	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.64	5.64	0.86602	Islet cell autoantigen Ica1, C-terminal (1);	0.052222	0.85682	D	0.000000	T	0.78323	0.4265	M	0.68317	2.08	0.58432	D	0.999997	D;D;D;D	0.71674	0.998;0.98;0.98;0.958	D;P;P;P	0.68621	0.959;0.853;0.737;0.802	T	0.77970	-0.2387	9	0.56958	D	0.05	-13.0419	19.6762	0.95934	0.0:0.0:1.0:0.0	.	456;426;427;415	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	S	427;427;426;427;415;456	.	ENSP00000265577:P426S	P	-	1	0	ICA1	8134079	1.000000	0.71417	0.998000	0.56505	0.057000	0.15508	6.957000	0.76019	2.835000	0.97688	0.591000	0.81541	CCT		0.517	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		39	214	0	0	0	0	39	214				
THSD7A	221981	broad.mit.edu	37	7	11446682	11446683	+	Splice_Site	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:11446682_11446683CC>TT	ENST00000423059.4	-	21	4168	c.3917_3917GG>AA	c.(3916-3918)gGGg>gAAgg	p.G1306E	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1306	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		GATCATTTTTCCTTGAAGAGAT	0.455										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.e20-1		thrombospondin, type I, domain containing 7A																																				SO:0001630	splice_region_variant	221981					integral to membrane		g.chr7:11446682_11446683CC>TT		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.3917_3917delinsTT	7.37:g.11446682_11446683delinsTT		HNSCC(18;0.044)					p.G1306_splice	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	20	4169	-									Splice_Site	DNP	ENST00000423059.4	37	c.3917_splice	CCDS47543.1																																																																																				0.455	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	Missense_Mutation	5	46	0	0	0	0	5	46				
THSD7A	221981	broad.mit.edu	37	7	11582619	11582619	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:11582619C>T	ENST00000423059.4	-	5	1830	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	527	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		TTACAGTTTTCATAAGTACAA	0.393										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(1579-1581)GAA>AAA		thrombospondin, type I, domain containing 7A							111.0	107.0	109.0					7																	11582619		1904	4125	6029	SO:0001583	missense	221981					integral to membrane		g.chr7:11582619C>T		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.1579G>A	7.37:g.11582619C>T	ENSP00000406482:p.Glu527Lys	HNSCC(18;0.044)					p.E527K	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	5	1831	-			527			TSP type-1 5.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.1579G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	35	5.495119	0.96339	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59083	0.29	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	N	0.26162	0.8	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.61108	-0.7129	10	0.30854	T	0.27	.	20.1595	0.98130	0.0:1.0:0.0:0.0	.	527	Q9UPZ6	THS7A_HUMAN	K	527	ENSP00000406482:E527K	ENSP00000262042:E527K	E	-	1	0	THSD7A	11549144	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.445000	0.80570	2.847000	0.97988	0.591000	0.81541	GAA		0.393	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		23	48	0	0	0	0	23	48				
HDAC9	9734	broad.mit.edu	37	7	18688107	18688107	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:18688107C>T	ENST00000432645.2	+	10	1259	c.1259C>T	c.(1258-1260)cCt>cTt	p.P420L	HDAC9_ENST00000456174.2_Missense_Mutation_p.P392L|HDAC9_ENST00000428307.2_Missense_Mutation_p.P376L|HDAC9_ENST00000405010.3_Missense_Mutation_p.P420L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P379L|HDAC9_ENST00000406451.4_Missense_Mutation_p.P420L|HDAC9_ENST00000441542.2_Missense_Mutation_p.P423L|HDAC9_ENST00000417496.2_Missense_Mutation_p.P418L|HDAC9_ENST00000406072.1_Missense_Mutation_p.P407L|HDAC9_ENST00000524023.1_Missense_Mutation_p.P343L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	420					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCTTACATCCTCAGTCTCCC	0.438																																						uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1258-1260)CCT>CTT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						69.0	68.0	69.0					7																	18688107		1890	4114	6004	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18688107C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1259C>T	7.37:g.18688107C>T	ENSP00000410337:p.Pro420Leu					HDAC9_uc003sue.2_Missense_Mutation_p.P420L|HDAC9_uc011jyd.1_Missense_Mutation_p.P420L|HDAC9_uc003sui.2_Missense_Mutation_p.P423L|HDAC9_uc003suj.2_Missense_Mutation_p.P379L|HDAC9_uc011jya.1_Missense_Mutation_p.P417L|HDAC9_uc003sua.1_Missense_Mutation_p.P398L|HDAC9_uc011jyb.1_Missense_Mutation_p.P376L|HDAC9_uc003sud.1_Missense_Mutation_p.P420L|HDAC9_uc011jyc.1_Missense_Mutation_p.P379L|HDAC9_uc003suf.1_Missense_Mutation_p.P451L|HDAC9_uc010kud.1_Missense_Mutation_p.P423L|HDAC9_uc011jye.1_Missense_Mutation_p.P392L|HDAC9_uc011jyf.1_Missense_Mutation_p.P343L|HDAC9_uc010kue.1_Missense_Mutation_p.P163L	p.P420L	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			10	1300	+	all_lung(11;0.187)		420					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1259C>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939575	0.52972	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.59083	0.9;0.87;0.3;0.91;0.9;0.35;0.29;0.29;0.87;0.91	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000015	T	0.70815	0.3267	L	0.54323	1.7	0.80722	D	1	P;P;D;D;D;D;P;D;D;D;P;D;D;D	0.89917	0.906;0.933;0.989;0.988;0.982;0.996;0.933;1.0;0.999;0.988;0.933;0.999;0.96;1.0	P;P;P;P;P;P;P;D;D;P;P;D;P;D	0.85130	0.521;0.462;0.858;0.714;0.726;0.9;0.518;0.996;0.943;0.621;0.518;0.943;0.663;0.997	T	0.67868	-0.5559	10	0.37606	T	0.19	-48.9627	14.651	0.68797	0.1454:0.8546:0.0:0.0	.	343;392;420;407;418;420;423;379;423;420;392;420;420;398	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	L	418;421;420;420;376;407;379;420;423;392;343;420	ENSP00000401669:P418L;ENSP00000384382:P420L;ENSP00000384657:P420L;ENSP00000395655:P376L;ENSP00000384017:P407L;ENSP00000383912:P379L;ENSP00000410337:P420L;ENSP00000408617:P423L;ENSP00000388568:P392L;ENSP00000430036:P343L	ENSP00000262069:P421L	P	+	2	0	HDAC9	18654632	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.442000	0.66575	2.702000	0.92279	0.557000	0.71058	CCT		0.438	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			10	78	0	0	0	0	10	78				
DNAH11	8701	broad.mit.edu	37	7	21627720	21627720	+	Silent	SNP	T	T	G	rs368294823		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:21627720T>G	ENST00000409508.3	+	10	1780	c.1749T>G	c.(1747-1749)gtT>gtG	p.V583V	DNAH11_ENST00000328843.6_Silent_p.V583V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	583	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAGCCAGTTGTCATGGAAA	0.348									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(1747-1749)GTT>GTG		dynein, axonemal, heavy chain 11							99.0	95.0	96.0					7																	21627720		1840	4083	5923	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21627720T>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1749T>G	7.37:g.21627720T>G							p.V583V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			10	1780	+			583			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.1749T>G																																																																																					0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		10	63	0	0	0	0	10	63				
DNAH11	8701	broad.mit.edu	37	7	21639524	21639524	+	Silent	SNP	C	C	T	rs552807434		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:21639524C>T	ENST00000409508.3	+	15	2818	c.2787C>T	c.(2785-2787)ttC>ttT	p.F929F	DNAH11_ENST00000328843.6_Silent_p.F929F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	929	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTAGACTTCTTTCTGAAGA	0.398									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2785-2787)TTC>TTT		dynein, axonemal, heavy chain 11							84.0	79.0	81.0					7																	21639524		1840	4086	5926	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639524C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2787C>T	7.37:g.21639524C>T							p.F929F	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			15	2818	+			929			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.2787C>T																																																																																					0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		8	38	0	0	0	0	8	38				
DNAH11	8701	broad.mit.edu	37	7	21744165	21744165	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:21744165G>A	ENST00000409508.3	+	38	6418	c.6387G>A	c.(6385-6387)agG>agA	p.R2129R	DNAH11_ENST00000328843.6_Silent_p.R2136R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2136					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGCCCCGGAGGAGGAAGCTGC	0.522									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6406-6408)AGG>AGA		dynein, axonemal, heavy chain 11							72.0	73.0	73.0					7																	21744165		1995	4179	6174	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21744165G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6387G>A	7.37:g.21744165G>A							p.R2136R	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			39	6439	+			2136					Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.6408G>A																																																																																					0.522	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	52	0	0	0	0	7	52				
IGF2BP3	10643	broad.mit.edu	37	7	23391088	23391088	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:23391088C>T	ENST00000258729.3	-	6	875	c.519G>A	c.(517-519)ggG>ggA	p.G173G	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	173					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCTGCCCAAGCCCCCGGCGAC	0.557																																						uc003swg.2		NA																	0				ovary(2)	2						c.(517-519)GGG>GGA		insulin-like growth factor 2 mRNA binding							41.0	43.0	43.0					7																	23391088		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23391088C>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.519G>A	7.37:g.23391088C>T							p.G173G	NM_006547	NP_006538	O00425	IF2B3_HUMAN			6	785	-			173					A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.519G>A	CCDS5382.1																																																																																				0.557	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		14	49	0	0	0	0	14	49				
NPVF	64111	broad.mit.edu	37	7	25268016	25268016	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:25268016C>A	ENST00000222674.2	-	1	89	c.43G>T	c.(43-45)Gcc>Tcc	p.A15S		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	15					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTTGAAGTGGCTAAAGTCAAT	0.303																																						uc003sxo.2		NA																	0				ovary(1)	1						c.(43-45)GCC>TCC		neuropeptide VF precursor							63.0	69.0	67.0					7																	25268016		2200	4294	6494	SO:0001583	missense	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25268016C>A	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.43G>T	7.37:g.25268016C>A	ENSP00000222674:p.Ala15Ser						p.A15S	NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN			1	90	-			15					A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	c.43G>T	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149365	0.37923	.	.	ENSG00000105954	ENST00000222674	T	0.27402	1.67	5.37	4.48	0.54585	.	0.000000	0.56097	D	0.000023	T	0.39358	0.1075	M	0.64567	1.98	0.34570	D	0.713342	P	0.49961	0.93	P	0.50162	0.633	T	0.56341	-0.7995	10	0.62326	D	0.03	-5.3982	10.8507	0.46769	0.0:0.9133:0.0:0.0867	.	15	Q9HCQ7	RFRP_HUMAN	S	15	ENSP00000222674:A15S	ENSP00000222674:A15S	A	-	1	0	NPVF	25234541	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	2.382000	0.44345	2.506000	0.84524	0.650000	0.86243	GCC		0.303	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		13	56	1	0	2.27e-07	2.32e-07	13	56				
HOXA3	3200	broad.mit.edu	37	7	27148004	27148004	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:27148004G>A	ENST00000396352.4	-	3	1061	c.862C>T	c.(862-864)Ccg>Tcg	p.P288S	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.P288S|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	288					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGCTCATACGGGACGCTGTTG	0.687																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	uc011jzl.1		NA																	0				breast(2)	2						c.(862-864)CCG>TCG		homeobox A3 isoform a							51.0	56.0	54.0					7																	27148004		2203	4299	6502	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148004G>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.862C>T	7.37:g.27148004G>A	ENSP00000379640:p.Pro288Ser					HOXA3_uc011jzk.1_Missense_Mutation_p.P130S|HOXA3_uc003syk.2_Missense_Mutation_p.P288S	p.P288S	NM_030661	NP_109377	O43365	HXA3_HUMAN			3	1062	-			288					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.862C>T	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	G	9.331	1.060438	0.19987	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.88124	-2.34;-2.34	5.41	5.41	0.78517	.	0.101117	0.64402	D	0.000001	T	0.80849	0.4702	N	0.25426	0.745	0.54753	D	0.999986	B	0.24483	0.104	B	0.30029	0.11	T	0.75249	-0.3384	10	0.07175	T	0.84	.	19.215	0.93772	0.0:0.0:1.0:0.0	.	288	O43365	HXA3_HUMAN	S	288;288;130	ENSP00000379640:P288S;ENSP00000324884:P288S	ENSP00000324884:P288S	P	-	1	0	HOXA3	27114529	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	6.275000	0.72594	2.539000	0.85634	0.655000	0.94253	CCG		0.687	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			14	66	0	0	0	0	14	66				
CHN2	1124	broad.mit.edu	37	7	29544359	29544359	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:29544359G>A	ENST00000222792.6	+	10	1443		c.e10-1		CHN2_ENST00000546235.1_Splice_Site|CHN2_ENST00000539389.1_Splice_Site|CHN2_ENST00000424025.2_Splice_Site|CHN2_ENST00000421775.2_Splice_Site|CHN2_ENST00000409041.4_Splice_Site|CHN2_ENST00000495789.2_Splice_Site|CHN2_ENST00000439711.2_Splice_Site|CHN2_ENST00000539406.1_Splice_Site|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000410098.1_Splice_Site	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2						positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CTCTCTAACAGGATTAAAATC	0.353																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2		NA																	0				ovary(2)	2						c.e10-1		beta chimerin isoform 2							74.0	72.0	73.0					7																	29544359		2203	4300	6503	SO:0001630	splice_region_variant	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29544359G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.914-1G>A	7.37:g.29544359G>A						CHN2_uc011jzs.1_Splice_Site_p.G380_splice|CHN2_uc010kva.2_Splice_Site_p.G75_splice|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Splice_Site_p.G270_splice|CHN2_uc011jzt.1_Splice_Site_p.G318_splice|CHN2_uc010kvd.2_Splice_Site_p.G161_splice|CHN2_uc011jzu.1_Splice_Site_p.G290_splice|CHN2_uc010kvg.2_Splice_Site_p.G169_splice|CHN2_uc010kvh.2_Splice_Site_p.G111_splice|CHN2_uc010kvi.2_Intron|CHN2_uc010kve.2_Splice_Site_p.G169_splice|CHN2_uc003taa.2_Splice_Site_p.G169_splice|CHN2_uc010kvf.2_Splice_Site_p.G111_splice|CHN2_uc010kvj.2_Splice_Site_p.G124_splice|CHN2_uc010kvk.2_Splice_Site|CHN2_uc010kvl.2_Splice_Site|CHN2_uc010kvm.2_Splice_Site_p.G124_splice|CHN2_uc011jzv.1_Splice_Site_p.G98_splice	p.G305_splice	NM_004067	NP_004058	P52757	CHIO_HUMAN			10	1351	+								A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Splice_Site	SNP	ENST00000222792.6	37	c.914_splice	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521050	0.44866	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000446446;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1133	0.97917	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHN2	29510884	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	9.845000	0.99498	2.860000	0.98153	0.655000	0.94253	.		0.353	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067	Intron	10	53	0	0	0	0	10	53				
FKBP14	55033	broad.mit.edu	37	7	30066080	30066080	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:30066080A>T	ENST00000222803.5	-	1	220	c.45T>A	c.(43-45)acT>acA	p.T15T	PLEKHA8_ENST00000396259.1_5'Flank|PLEKHA8_ENST00000449726.1_5'Flank|PLEKHA8_ENST00000258679.7_5'Flank|AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA|PLEKHA8_ENST00000396257.2_5'Flank	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	15					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						CAATCAAAGAAGTGACGAACA	0.473																																						uc003tal.1		NA																	0					0						c.(43-45)ACT>ACA		FK506 binding protein 14 precursor							91.0	88.0	89.0					7																	30066080		2203	4300	6503	SO:0001819	synonymous_variant	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30066080A>T	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.45T>A	7.37:g.30066080A>T						PLEKHA8_uc003tao.2_5'Flank|PLEKHA8_uc003tap.1_5'Flank|FKBP14_uc010kvq.1_RNA|PLEKHA8_uc003tam.1_5'Flank|PLEKHA8_uc003tan.2_5'Flank	p.T15T	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN			1	189	-			15						Silent	SNP	ENST00000222803.5	37	c.45T>A	CCDS5423.1																																																																																				0.473	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		32	62	0	0	0	0	32	62				
NOD1	10392	broad.mit.edu	37	7	30491316	30491316	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:30491316G>A	ENST00000222823.4	-	6	2242	c.1717C>T	c.(1717-1719)Ccg>Tcg	p.P573S		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	573					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCCCGCGCCGGACCACTGCCC	0.607																																						uc003tav.2		NA																	0				ovary(1)|skin(1)	2						c.(1717-1719)CCG>TCG		nucleotide-binding oligomerization domain							55.0	61.0	59.0					7																	30491316		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491316G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1717C>T	7.37:g.30491316G>A	ENSP00000222823:p.Pro573Ser						p.P573S	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			6	2240	-			573					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.1717C>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.938012	0.00052	.	.	ENSG00000106100	ENST00000222823	T	0.69175	-0.38	5.28	2.39	0.29439	.	1.431980	0.03957	N	0.289491	T	0.50103	0.1596	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.29852	-0.9998	10	0.10111	T	0.7	.	6.6176	0.22786	0.1518:0.2724:0.5758:0.0	.	573	Q9Y239	NOD1_HUMAN	S	573	ENSP00000222823:P573S	ENSP00000222823:P573S	P	-	1	0	NOD1	30457841	0.008000	0.16893	0.003000	0.11579	0.002000	0.02628	1.232000	0.32636	0.624000	0.30286	0.655000	0.94253	CCG		0.607	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			13	65	0	0	0	0	13	65				
FKBP9	11328	broad.mit.edu	37	7	33039805	33039805	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:33039805G>A	ENST00000242209.4	+	8	1474	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Silent_p.E203E|RNU6-388P_ENST00000517012.1_RNA|FKBP9_ENST00000538443.1_Silent_p.E297E|FKBP9_ENST00000538336.1_Silent_p.E488E	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	435	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GTCTCAGAGAGATGTGCGTTG	0.502																																						uc003tdh.2		NA																	0				central_nervous_system(13)|ovary(1)	14						c.(1303-1305)GAG>GAA		FK506 binding protein 9 precursor							113.0	106.0	109.0					7																	33039805		2203	4297	6500	SO:0001819	synonymous_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33039805G>A	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1305G>A	7.37:g.33039805G>A						AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Silent_p.E488E|FKBP9_uc011kam.1_Silent_p.E203E	p.E435E	NM_007270	NP_009201	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		8	1486	+			435			PPIase FKBP-type 4.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	c.1305G>A	CCDS5439.1																																																																																				0.502	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		19	105	0	0	0	0	19	105				
BBS9	27241	broad.mit.edu	37	7	33376101	33376101	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:33376101G>A	ENST00000242067.6	+	10	1586	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	BBS9_ENST00000354265.4_Silent_p.Q355Q|BBS9_ENST00000396127.2_Silent_p.Q355Q|BBS9_ENST00000355070.2_Silent_p.Q355Q|BBS9_ENST00000350941.3_Silent_p.Q355Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	355					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.Q355H(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTCACTTGCAGTGTTCATACC	0.373									Bardet-Biedl syndrome																													uc003tdn.1		NA																	1	Substitution - Missense(1)	p.Q355H(1)	upper_aerodigestive_tract(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1063-1065)CAG>CAA		parathyroid hormone-responsive B1 isoform 2							110.0	100.0	104.0					7																	33376101		2203	4300	6503	SO:0001819	synonymous_variant	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33376101G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1065G>A	7.37:g.33376101G>A						BBS9_uc003tdo.1_Silent_p.Q355Q|BBS9_uc003tdp.1_Silent_p.Q355Q|BBS9_uc003tdq.1_Silent_p.Q355Q|BBS9_uc010kwn.1_RNA|BBS9_uc011kao.1_Silent_p.Q233Q	p.Q355Q	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		10	1578	+			355					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	c.1065G>A	CCDS43566.1																																																																																				0.373	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			12	42	0	0	0	0	12	42				
AOAH	313	broad.mit.edu	37	7	36580098	36580098	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:36580098C>T	ENST00000258749.5	-	16	1533		c.e16-1		AOAH_ENST00000535891.1_Splice_Site|AOAH_ENST00000491444.1_Splice_Site|AOAH_ENST00000431169.1_Splice_Site|AOAH_ENST00000538464.1_Splice_Site	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)						inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTCACTCTTCCTGTTGGTGGA	0.458																																						uc003tfh.3		NA																	0				skin(1)	1						c.e16-1		acyloxyacyl hydrolase precursor							114.0	103.0	107.0					7																	36580098		2203	4300	6503	SO:0001630	splice_region_variant	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36580098C>T	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1134-1G>A	7.37:g.36580098C>T						AOAH_uc010kxf.2_Splice_Site_p.G378_splice|AOAH_uc011kba.1_Splice_Site_p.G346_splice	p.G378_splice	NM_001637	NP_001628	P28039	AOAH_HUMAN			16	1535	-								A4D1Y5|B7Z490|Q53F13	Splice_Site	SNP	ENST00000258749.5	37	c.1134_splice	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687888	0.48097	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3601	0.87347	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AOAH	36546623	0.995000	0.38212	0.995000	0.50966	0.396000	0.30629	4.341000	0.59335	2.838000	0.97847	0.655000	0.94253	.		0.458	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637	Intron	20	97	0	0	0	0	20	97				
NME8	51314	broad.mit.edu	37	7	37907425	37907425	+	Missense_Mutation	SNP	C	C	T	rs199973571		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:37907425C>T	ENST00000199447.4	+	11	1115	c.743C>T	c.(742-744)cCt>cTt	p.P248L	NME8_ENST00000440017.1_Missense_Mutation_p.P248L|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	248	NDK 1.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GACACCGAACCTAACGAACGA	0.438																																						uc003tfn.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(742-744)CCT>CTT		thioredoxin domain containing 3							131.0	109.0	117.0					7																	37907425		2203	4300	6503	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37907425C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.743C>T	7.37:g.37907425C>T	ENSP00000199447:p.Pro248Leu						p.P248L	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			11	1115	+			248			NDK 1.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.743C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	9.740	1.164648	0.21538	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.51325	0.71;0.71	4.72	0.715	0.18186	.	2.395990	0.01318	N	0.010851	T	0.29620	0.0739	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17167	-1.0378	10	0.29301	T	0.29	9.9458	7.8426	0.29408	0.0:0.632:0.0:0.368	.	248	Q8N427	TXND3_HUMAN	L	248	ENSP00000199447:P248L;ENSP00000397063:P248L	ENSP00000199447:P248L	P	+	2	0	TXNDC3	37873950	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.791000	0.04599	0.008000	0.14787	0.563000	0.77884	CCT		0.438	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		12	31	0	0	0	0	12	31				
NME8	51314	broad.mit.edu	37	7	37927979	37927979	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:37927979C>T	ENST00000199447.4	+	15	1720	c.1348C>T	c.(1348-1350)Ctt>Ttt	p.L450F	NME8_ENST00000440017.1_Missense_Mutation_p.L450F|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	450	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TTTCTTTCCTCTTCAAAGCAC	0.368																																						uc003tfn.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1348-1350)CTT>TTT		thioredoxin domain containing 3							72.0	70.0	71.0					7																	37927979		2203	4299	6502	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37927979C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1348C>T	7.37:g.37927979C>T	ENSP00000199447:p.Leu450Phe						p.L450F	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			15	1720	+			450			NDK 2.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1348C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	3.399	-0.122613	0.06795	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.46819	0.86;0.86	4.42	2.59	0.31030	.	1.947210	0.02320	N	0.072861	T	0.38878	0.1057	N	0.22421	0.69	0.18873	N	0.999986	B	0.18310	0.027	B	0.21546	0.035	T	0.32613	-0.9900	10	0.54805	T	0.06	0.8304	8.1136	0.30928	0.0:0.435:0.4727:0.0922	.	450	Q8N427	TXND3_HUMAN	F	450	ENSP00000199447:L450F;ENSP00000397063:L450F	ENSP00000199447:L450F	L	+	1	0	TXNDC3	37894504	0.019000	0.18553	0.689000	0.30133	0.947000	0.59692	0.024000	0.13555	0.786000	0.33708	0.563000	0.77884	CTT		0.368	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		8	62	0	0	0	0	8	62				
SFRP4	6424	broad.mit.edu	37	7	37947224	37947224	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:37947224C>T	ENST00000436072.2	-	6	1275	c.898G>A	c.(898-900)Gac>Aac	p.D300N	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	300	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCTTCTTGTCCTGAACTGTT	0.493																																						uc003tfo.3		NA																	0				lung(1)	1						c.(898-900)GAC>AAC		secreted frizzled-related  protein 4 precursor							101.0	101.0	101.0					7																	37947224		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37947224C>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.898G>A	7.37:g.37947224C>T	ENSP00000410715:p.Asp300Asn						p.D300N	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			6	1284	-			300			NTR.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.898G>A	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257469	0.39896	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.64085	-0.08	4.45	4.45	0.53987	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.422600	0.26696	N	0.022962	T	0.43831	0.1265	N	0.14661	0.345	0.30776	N	0.742531	B	0.09022	0.002	B	0.04013	0.001	T	0.48536	-0.9027	10	0.62326	D	0.03	.	10.9281	0.47201	0.0:0.9091:0.0:0.0908	.	300	Q6FHJ7	SFRP4_HUMAN	N	300;297	ENSP00000410715:D300N	ENSP00000410715:D300N	D	-	1	0	SFRP4	37913749	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	1.885000	0.39678	2.753000	0.94483	0.650000	0.86243	GAC		0.493	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		17	76	0	0	0	0	17	76				
CDK13	8621	broad.mit.edu	37	7	40027827	40027827	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:40027827C>T	ENST00000181839.4	+	2	2446	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.P614L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	614					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CCTTTGCCTCCCATGCTGCCT	0.398																																						uc003thh.3		NA																	0				lung(2)|skin(2)|ovary(1)	5						c.(1840-1842)CCC>CTC		cell division cycle 2-like 5 isoform 1							86.0	72.0	77.0					7																	40027827		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40027827C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1841C>T	7.37:g.40027827C>T	ENSP00000181839:p.Pro614Leu					CDK13_uc003thi.3_Missense_Mutation_p.P614L|CDK13_uc011kbf.1_5'UTR	p.P614L	NM_003718	NP_003709	Q14004	CDK13_HUMAN			2	2123	+			614					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.1841C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368142	0.82463	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.76578	-1.03;-0.89	6.02	6.02	0.97574	.	.	.	.	.	D	0.87390	0.6165	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85010	0.0905	8	.	.	.	-8.2752	20.5373	0.99239	0.0:1.0:0.0:0.0	.	614;614	Q14004-2;Q14004	.;CDK13_HUMAN	L	614	ENSP00000181839:P614L;ENSP00000340557:P614L	.	P	+	2	0	CDK13	39994352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.378000	0.59568	2.857000	0.98124	0.650000	0.86243	CCC		0.398	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		22	82	0	0	0	0	22	82				
CDK13	8621	broad.mit.edu	37	7	40127730	40127730	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:40127730C>T	ENST00000181839.4	+	12	3640	c.3035C>T	c.(3034-3036)cCt>cTt	p.P1012L	CDK13_ENST00000340829.5_Missense_Mutation_p.P1012L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1012					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTCAGTCTCCCTTTATGGCAA	0.373																																						uc003thh.3		NA																	0				lung(2)|skin(2)|ovary(1)	5						c.(3034-3036)CCT>CTT		cell division cycle 2-like 5 isoform 1							52.0	54.0	53.0					7																	40127730		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40127730C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3035C>T	7.37:g.40127730C>T	ENSP00000181839:p.Pro1012Leu					CDK13_uc003thi.3_Missense_Mutation_p.P1012L|CDK13_uc003thj.2_Missense_Mutation_p.P63L	p.P1012L	NM_003718	NP_003709	Q14004	CDK13_HUMAN			12	3317	+			1012					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.3035C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403810	0.83230	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.77229	-1.08;-0.89	5.46	5.46	0.80206	Protein kinase-like domain (1);	.	.	.	.	D	0.87884	0.6290	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.949	D	0.86773	0.1974	8	.	.	.	-10.2762	19.6831	0.95971	0.0:1.0:0.0:0.0	.	1012;1012	Q14004-2;Q14004	.;CDK13_HUMAN	L	1012	ENSP00000181839:P1012L;ENSP00000340557:P1012L	.	P	+	2	0	CDK13	40094255	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.765000	0.85310	2.731000	0.93534	0.585000	0.79938	CCT		0.373	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		10	37	0	0	0	0	10	37				
HECW1	23072	broad.mit.edu	37	7	43484379	43484379	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:43484379C>T	ENST00000395891.2	+	11	2213	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	HECW1_ENST00000453890.1_Silent_p.S536S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	536					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCCCTGCTCCTTGCCTGTGT	0.647																																						uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1606-1608)TCC>TCT		NEDD4-like ubiquitin-protein ligase 1							36.0	45.0	42.0					7																	43484379		2112	4228	6340	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484379C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1608C>T	7.37:g.43484379C>T						HECW1_uc011kbi.1_Silent_p.S536S	p.S536S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2213	+			536					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1608C>T	CCDS5469.2																																																																																				0.647	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		4	29	0	0	0	0	4	29				
HECW1	23072	broad.mit.edu	37	7	43484409	43484409	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:43484409C>T	ENST00000395891.2	+	11	2243	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	HECW1_ENST00000453890.1_Silent_p.I546I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	546					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I525I(1)|p.I546I(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGACGGTGATCGCGTCAGCCT	0.687																																						uc003tid.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1636-1638)ATC>ATT		NEDD4-like ubiquitin-protein ligase 1							41.0	51.0	48.0					7																	43484409		2110	4221	6331	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484409C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1638C>T	7.37:g.43484409C>T						HECW1_uc011kbi.1_Silent_p.I546I	p.I546I	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2243	+			546					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1638C>T	CCDS5469.2																																																																																				0.687	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		5	50	0	0	0	0	5	50				
BLVRA	644	broad.mit.edu	37	7	43832321	43832321	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:43832321C>G	ENST00000402924.1	+	6	425	c.262C>G	c.(262-264)Ctt>Gtt	p.L88V	BLVRA_ENST00000265523.4_Missense_Mutation_p.L88V	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	88					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						AAGGCAGTTCCTTAATGCTGG	0.453																																						uc003tir.2		NA																	0				ovary(1)	1						c.(262-264)CTT>GTT		biliverdin reductase A precursor	NADH(DB00157)						106.0	95.0	99.0					7																	43832321		2203	4300	6503	SO:0001583	missense	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43832321C>G	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.262C>G	7.37:g.43832321C>G	ENSP00000385757:p.Leu88Val					BLVRA_uc010kxv.2_Missense_Mutation_p.L88V	p.L88V	NM_000712	NP_000703	P53004	BIEA_HUMAN			5	345	+			88					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	c.262C>G	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596211	0.66332	.	.	ENSG00000106605	ENST00000265523;ENST00000402924;ENST00000424330	T;T;T	0.36157	1.27;1.27;1.27	4.16	4.16	0.48862	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.64114	0.2569	M	0.87328	2.875	0.43126	D	0.994855	D	0.60575	0.988	D	0.76575	0.988	T	0.72865	-0.4163	10	0.87932	D	0	.	14.3298	0.66548	0.0:1.0:0.0:0.0	.	88	P53004	BIEA_HUMAN	V	88	ENSP00000265523:L88V;ENSP00000385757:L88V;ENSP00000412005:L88V	ENSP00000265523:L88V	L	+	1	0	BLVRA	43798846	1.000000	0.71417	0.968000	0.41197	0.901000	0.52897	2.147000	0.42226	2.026000	0.59711	0.484000	0.47621	CTT		0.453	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		12	27	0	0	0	0	12	27				
NPC1L1	29881	broad.mit.edu	37	7	44579040	44579040	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44579040G>A	ENST00000289547.4	-	2	1011	c.956C>T	c.(955-957)cCc>cTc	p.P319L	NPC1L1_ENST00000423141.1_Missense_Mutation_p.P319L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P319L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P319L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	319					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCCCTTCTTGGGGTCCACCAT	0.607																																						uc003tlb.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(955-957)CCC>CTC		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						104.0	103.0	103.0					7																	44579040		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579040G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.956C>T	7.37:g.44579040G>A	ENSP00000289547:p.Pro319Leu					NPC1L1_uc003tlc.2_Missense_Mutation_p.P319L|NPC1L1_uc011kbw.1_Missense_Mutation_p.P319L|NPC1L1_uc003tld.2_Missense_Mutation_p.P319L	p.P319L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			2	1012	-			319			Cytoplasmic (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.956C>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	9.840	1.190800	0.21954	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.05	5.05	0.67936	.	1.731520	0.04829	U	0.438478	D	0.85457	0.5701	M	0.79475	2.455	0.37617	D	0.921168	B;B;B;B	0.11235	0.0;0.004;0.001;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.0	T	0.67055	-0.5767	10	0.24483	T	0.36	-20.1062	15.8823	0.79213	0.0:0.0:1.0:0.0	.	319;319;319;319	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	L	319	ENSP00000289547:P319L;ENSP00000370552:P319L;ENSP00000438033:P319L;ENSP00000404670:P319L	ENSP00000289547:P319L	P	-	2	0	NPC1L1	44545565	0.007000	0.16637	0.072000	0.20136	0.302000	0.27658	1.315000	0.33608	2.342000	0.79632	0.462000	0.41574	CCC		0.607	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		32	81	0	0	0	0	32	81				
OGDH	4967	broad.mit.edu	37	7	44741144	44741144	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44741144A>C	ENST00000222673.5	+	20	2604	c.2562A>C	c.(2560-2562)ttA>ttC	p.L854F	OGDH_ENST00000444676.1_Missense_Mutation_p.L869F|OGDH_ENST00000449767.1_Missense_Mutation_p.L850F|OGDH_ENST00000439616.2_Missense_Mutation_p.L704F|OGDH_ENST00000543843.1_Missense_Mutation_p.L805F|OGDH_ENST00000447398.1_Missense_Mutation_p.L865F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	854					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TATTTCAGTTAATTATCTTCA	0.498																																						uc003tln.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2560-2562)TTA>TTC		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						100.0	89.0	93.0					7																	44741144		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44741144A>C	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2562A>C	7.37:g.44741144A>C	ENSP00000222673:p.Leu854Phe					OGDH_uc011kbx.1_Missense_Mutation_p.L850F|OGDH_uc011kby.1_Missense_Mutation_p.L704F|OGDH_uc003tlp.2_Missense_Mutation_p.L865F|OGDH_uc011kbz.1_Missense_Mutation_p.L649F	p.L854F	NM_002541	NP_002532	Q02218	ODO1_HUMAN			20	2671	+			854					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2562A>C	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724834	0.68959	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06;-3.06	4.82	-8.03	0.01114	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.64402	D	0.000001	D	0.96562	0.8878	H	0.98487	4.245	0.46113	D	0.998878	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999	D;D;D;D;D	0.79784	0.993;0.993;0.993;0.993;0.993	D	0.95248	0.8357	10	0.87932	D	0	-13.4534	12.7838	0.57493	0.1245:0.3068:0.5687:0.0	.	649;704;850;865;854	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	F	704;850;865;869;854;805	ENSP00000398576:L704F;ENSP00000392878:L850F;ENSP00000388183:L865F;ENSP00000414662:L869F;ENSP00000222673:L854F;ENSP00000443821:L805F	ENSP00000222673:L854F	L	+	3	2	OGDH	44707669	0.035000	0.19736	0.860000	0.33809	0.996000	0.88848	-0.785000	0.04628	-1.433000	0.01977	0.482000	0.46254	TTA		0.498	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			21	34	0	0	0	0	21	34				
ZMIZ2	83637	broad.mit.edu	37	7	44804988	44804988	+	Silent	SNP	C	C	T	rs371659087		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44804988C>T	ENST00000309315.4	+	16	2175	c.2052C>T	c.(2050-2052)ccC>ccT	p.P684P	ZMIZ2_ENST00000441627.1_Silent_p.P684P|ZMIZ2_ENST00000265346.7_Silent_p.P658P|ZMIZ2_ENST00000413916.1_Silent_p.P626P|ZMIZ2_ENST00000433667.1_Silent_p.P652P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	684					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCAGTGCCCGTGAAGCCTG	0.642																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(2050-2052)CCC>CCT		zinc finger, MIZ-type containing 2 isoform 1		C	,	1,4295		0,1,2147	39.0	42.0	41.0		2052,1974	-7.9	0.5	7		41	3,8503		0,3,4250	no	coding-synonymous,coding-synonymous	ZMIZ2	NM_031449.3,NM_174929.2	,	0,4,6397	TT,TC,CC		0.0353,0.0233,0.0312	,	684/921,658/895	44804988	4,12798	2148	4253	6401	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44804988C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2052C>T	7.37:g.44804988C>T						ZMIZ2_uc003tlq.2_Silent_p.P626P|ZMIZ2_uc003tls.2_Silent_p.P658P|ZMIZ2_uc003tlt.2_Silent_p.P307P|ZMIZ2_uc010kyj.2_Silent_p.P206P|ZMIZ2_uc003tlu.2_5'Flank	p.P684P	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			16	2175	+			684					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.2052C>T	CCDS43576.1																																																																																				0.642	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		14	37	0	0	0	0	14	37				
ZMIZ2	83637	broad.mit.edu	37	7	44805102	44805102	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44805102C>T	ENST00000309315.4	+	16	2289	c.2166C>T	c.(2164-2166)gcC>gcT	p.A722A	ZMIZ2_ENST00000441627.1_Silent_p.A722A|ZMIZ2_ENST00000265346.7_Silent_p.A696A|ZMIZ2_ENST00000413916.1_Silent_p.A664A|ZMIZ2_ENST00000433667.1_Silent_p.A690A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	722					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGATCGCCGCCCTGGGCCCCG	0.692																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(2164-2166)GCC>GCT		zinc finger, MIZ-type containing 2 isoform 1							14.0	17.0	16.0					7																	44805102		2009	4163	6172	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805102C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2166C>T	7.37:g.44805102C>T						ZMIZ2_uc003tlq.2_Silent_p.A664A|ZMIZ2_uc003tls.2_Silent_p.A696A|ZMIZ2_uc003tlt.2_Silent_p.A345A|ZMIZ2_uc010kyj.2_Silent_p.A244A|ZMIZ2_uc003tlu.2_5'Flank	p.A722A	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			16	2289	+			722					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.2166C>T	CCDS43576.1																																																																																				0.692	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		10	22	0	0	0	0	10	22				
MYO1G	64005	broad.mit.edu	37	7	45004019	45004019	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:45004019G>A	ENST00000258787.7	-	19	2762	c.2626C>T	c.(2626-2628)Cgc>Tgc	p.R876C		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	876	Myosin tail. {ECO:0000255}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTAACCTTGCGGACATGGCTT	0.527																																						uc003tmh.2		NA																	0				breast(2)|ovary(1)|pancreas(1)	4						c.(2626-2628)CGC>TGC		myosin IG							81.0	79.0	80.0					7																	45004019		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45004019G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2626C>T	7.37:g.45004019G>A	ENSP00000258787:p.Arg876Cys					MYO1G_uc003tmf.2_Missense_Mutation_p.R319C|MYO1G_uc003tmg.2_Missense_Mutation_p.R638C|MYO1G_uc010kym.2_Missense_Mutation_p.R761C	p.R876C	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			19	2770	-			876	R->A: No effect on membrane localization.				Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.2626C>T	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661116	0.29515	.	.	ENSG00000136286	ENST00000258787	T	0.37235	1.21	3.77	1.89	0.25635	Myosin tail 2 (1);	0.220649	0.22883	N	0.054497	T	0.48554	0.1506	M	0.76328	2.33	0.80722	D	1	D	0.64830	0.994	P	0.58077	0.832	T	0.40869	-0.9540	10	0.46703	T	0.11	.	7.1718	0.25722	0.0948:0.0:0.7364:0.1688	.	876	B0I1T2	MYO1G_HUMAN	C	876	ENSP00000258787:R876C	ENSP00000258787:R876C	R	-	1	0	MYO1G	44970544	1.000000	0.71417	0.270000	0.24601	0.062000	0.15995	1.795000	0.38784	0.355000	0.24131	0.407000	0.27541	CGC		0.527	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			19	59	0	0	0	0	19	59				
ADCY1	107	broad.mit.edu	37	7	45650062	45650062	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:45650062C>T	ENST00000297323.7	+	3	896	c.874C>T	c.(874-876)Cac>Tac	p.H292Y	ADCY1_ENST00000432715.1_Missense_Mutation_p.H67Y	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	292					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGGATTTTCCACAAGATTTA	0.572																																						uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(874-876)CAC>TAC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						86.0	88.0	87.0					7																	45650062		2203	4300	6503	SO:0001583	missense	107				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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45650062C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.874C>T	7.37:g.45650062C>T	ENSP00000297323:p.His292Tyr					ADCY1_uc003tnd.2_Missense_Mutation_p.H67Y	p.H292Y	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			3	892	+			292			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.874C>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	c	24.6	4.552620	0.86127	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.84660	-1.88;-1.88	5.01	5.01	0.66863	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.118515	0.56097	D	0.000031	D	0.85860	0.5795	M	0.69823	2.125	0.58432	D	0.999999	D;P	0.58620	0.983;0.779	P;B	0.44359	0.447;0.15	D	0.88525	0.3099	10	0.87932	D	0	.	15.8402	0.78840	0.0:1.0:0.0:0.0	.	292;67	Q08828;C9J1J0	ADCY1_HUMAN;.	Y	67;292;292	ENSP00000392721:H67Y;ENSP00000297323:H292Y	ENSP00000297323:H292Y	H	+	1	0	ADCY1	45616587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.075000	0.76798	2.306000	0.77630	0.598000	0.82781	CAC		0.572	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		45	99	0	0	0	0	45	99				
ADCY1	107	broad.mit.edu	37	7	45743070	45743070	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:45743070C>T	ENST00000297323.7	+	15	2572	c.2550C>T	c.(2548-2550)ctC>ctT	p.L850L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	850					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGCACTTCCTCATGTCCAACC	0.637																																						uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2548-2550)CTC>CTT		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						149.0	123.0	132.0					7																	45743070		2203	4300	6503	SO:0001819	synonymous_variant	107				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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45743070C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2550C>T	7.37:g.45743070C>T							p.L850L	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			15	2568	+			850			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.2550C>T	CCDS34631.1																																																																																				0.637	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		5	36	0	0	0	0	5	36				
TNS3	64759	broad.mit.edu	37	7	47323382	47323382	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:47323382G>A	ENST00000398879.1	-	28	4376	c.4010C>T	c.(4009-4011)aCc>aTc	p.T1337I	TNS3_ENST00000355730.3_Missense_Mutation_p.T1097I|TNS3_ENST00000311160.9_Missense_Mutation_p.T1337I			Q68CZ2	TENS3_HUMAN	tensin 3	1337					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTGGACCAGGGTGATGCTCAG	0.577																																						uc003tnv.2		NA																	0				ovary(4)	4						c.(4009-4011)ACC>ATC		tensin 3							79.0	84.0	83.0					7																	47323382		2059	4234	6293	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47323382G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.4010C>T	7.37:g.47323382G>A	ENSP00000381854:p.Thr1337Ile					TNS3_uc003tnw.2_Missense_Mutation_p.T1337I	p.T1337I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			28	4377	-			1337					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.4010C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431518	0.83776	.	.	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	T;T;T	0.40225	1.04;1.04;1.04	5.66	5.66	0.87406	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.559842	0.18058	N	0.153053	T	0.61887	0.2383	L	0.61036	1.89	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.56177	-0.8022	10	0.37606	T	0.19	-48.0044	17.2398	0.87010	0.0:0.0:1.0:0.0	.	1337	Q68CZ2	TENS3_HUMAN	I	1337;1337;1097;793	ENSP00000312143:T1337I;ENSP00000381854:T1337I;ENSP00000347968:T1097I	ENSP00000312143:T1337I	T	-	2	0	TNS3	47289907	1.000000	0.71417	0.397000	0.26308	0.997000	0.91878	5.429000	0.66495	2.685000	0.91497	0.655000	0.94253	ACC		0.577	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		12	71	0	0	0	0	12	71				
PKD1L1	168507	broad.mit.edu	37	7	47842808	47842808	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:47842808C>T	ENST00000289672.2	-	53	8012	c.7962G>A	c.(7960-7962)ggG>ggA	p.G2654G	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2654					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGTTCTTACCCCTGCTACAA	0.453																																						uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(7960-7962)GGG>GGA		polycystin-1L1							114.0	107.0	109.0					7																	47842808		2203	4300	6503	SO:0001630	splice_region_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47842808C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7962+1G>A	7.37:g.47842808C>T						C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	p.G2654G	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			53	7962	-			2654			Helical; (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.7962G>A	CCDS34633.1																																																																																				0.453	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	Silent	8	83	0	0	0	0	8	83				
SUN3	256979	broad.mit.edu	37	7	48033956	48033956	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:48033956G>A	ENST00000297325.4	-	8	976	c.817C>T	c.(817-819)Ccg>Tcg	p.P273S	SUN3_ENST00000412142.1_Missense_Mutation_p.P173S|SUN3_ENST00000395572.2_Missense_Mutation_p.P273S|SUN3_ENST00000453192.2_Missense_Mutation_p.P261S|SUN3_ENST00000473723.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	273	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCCTGACGGAGACACCTTC	0.453																																						uc003tof.2		NA																	0				central_nervous_system(1)	1						c.(817-819)CCG>TCG		Sad1 and UNC84 domain containing 1							188.0	179.0	182.0					7																	48033956		2203	4300	6503	SO:0001583	missense	256979					integral to membrane		g.chr7:48033956G>A	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.817C>T	7.37:g.48033956G>A	ENSP00000297325:p.Pro273Ser					SUN3_uc010kyq.2_Missense_Mutation_p.P173S|SUN3_uc003tog.2_Missense_Mutation_p.P273S|SUN3_uc011kcf.1_Missense_Mutation_p.P261S	p.P273S	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			9	914	-			273			SUN.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.817C>T	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691433	0.88735	.	.	ENSG00000164744	ENST00000297325;ENST00000412371;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.45	5.45	0.79879	Sad1/UNC-like, C-terminal (2);	0.054104	0.85682	D	0.000000	T	0.65933	0.2739	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.996;0.999;1.0	D;D;D	0.97110	0.973;0.981;1.0	T	0.69101	-0.5234	10	0.87932	D	0	.	16.9474	0.86233	0.0:0.0:1.0:0.0	.	261;173;273	E7EWC8;Q8TAQ9-2;Q8TAQ9	.;.;SUN3_HUMAN	S	273;95;173;273;261;173	ENSP00000297325:P273S;ENSP00000406887:P95S;ENSP00000410204:P173S;ENSP00000378939:P273S;ENSP00000387525:P261S;ENSP00000409077:P173S	ENSP00000297325:P273S	P	-	1	0	SUN3	48000481	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.283000	0.95860	2.602000	0.87976	0.551000	0.68910	CCG		0.453	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		75	125	0	0	0	0	75	125				
ABCA13	154664	broad.mit.edu	37	7	48528921	48528921	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:48528921C>T	ENST00000435803.1	+	48	13295	c.13271C>T	c.(13270-13272)aCt>aTt	p.T4424I	ABCA13_ENST00000544596.1_Missense_Mutation_p.T154I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4424					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTACCCCCTACTGTGGACTGG	0.343																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(13270-13272)ACT>ATT		ATP binding cassette, sub-family A (ABC1),							83.0	76.0	78.0					7																	48528921		1862	4093	5955	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48528921C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13271C>T	7.37:g.48528921C>T	ENSP00000411096:p.Thr4424Ile					ABCA13_uc010kys.1_Missense_Mutation_p.T1499I|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.T154I	p.T4424I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			48	13296	+			4424					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13271C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498419	0.26861	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87571	-2.04;-2.27;-2.23	5.44	0.251	0.15540	.	1.090370	0.07114	N	0.842634	T	0.78419	0.4280	L	0.43152	1.355	0.09310	N	1	B;B;P	0.34864	0.043;0.296;0.473	B;B;B	0.29077	0.098;0.053;0.089	T	0.66701	-0.5857	10	0.66056	D	0.02	.	1.8463	0.03160	0.2826:0.424:0.1373:0.156	.	154;2126;4424	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	I	4424;197;154	ENSP00000411096:T4424I;ENSP00000391042:T197I;ENSP00000442634:T154I	ENSP00000391042:T197I	T	+	2	0	ABCA13	48499467	0.000000	0.05858	0.000000	0.03702	0.895000	0.52256	-1.827000	0.01704	-0.019000	0.14055	0.655000	0.94253	ACT		0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		7	28	0	0	0	0	7	28				
DDC	1644	broad.mit.edu	37	7	50605614	50605614	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:50605614C>T	ENST00000444124.2	-	4	579	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	DDC_ENST00000431062.1_Missense_Mutation_p.E127K|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.E127K|DDC_ENST00000380984.4_Missense_Mutation_p.E127K|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	127	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.E127*(2)|p.E127S(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TTTGGTAGTTCCAGCATCTTC	0.567																																						uc003tpf.3		NA																	4	Substitution - Missense(2)|Substitution - Nonsense(2)		lung(4)	ovary(2)	2						c.(379-381)GAA>AAA		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						98.0	87.0	91.0					7																	50605614		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50605614C>T		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.379G>A	7.37:g.50605614C>T	ENSP00000403644:p.Glu127Lys					DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Missense_Mutation_p.E127K	p.E127K	NM_000790	NP_000781	P20711	DDC_HUMAN			4	465	-	Glioma(55;0.08)|all_neural(89;0.245)		127			2.|2 X approximate tandem repeats.		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.379G>A	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930175	0.34096	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.62	-3.47	0.04753	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.753950	0.13556	N	0.379134	T	0.09730	0.0239	N	0.00815	-1.16	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.36456	-0.9747	10	0.21540	T	0.41	-29.3364	8.7605	0.34672	0.0:0.1998:0.4888:0.3114	.	127	P20711	DDC_HUMAN	K	127	ENSP00000350616:E127K;ENSP00000399184:E127K;ENSP00000403644:E127K;ENSP00000370371:E127K	ENSP00000350616:E127K	E	-	1	0	DDC	50573108	0.003000	0.15002	0.889000	0.34880	0.449000	0.32228	-0.048000	0.11944	-0.490000	0.06707	-0.218000	0.12543	GAA		0.567	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			24	76	0	0	0	0	24	76				
ZNF479	90827	broad.mit.edu	37	7	57188704	57188704	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:57188704C>T	ENST00000331162.4	-	5	688	c.418G>A	c.(418-420)Gga>Aga	p.G140R		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	140					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CTATAACCTCCCTTGTGCACC	0.313																																						uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(418-420)GGA>AGA		zinc finger protein 479							123.0	115.0	117.0					7																	57188704		1874	4121	5995	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188704C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.418G>A	7.37:g.57188704C>T	ENSP00000333776:p.Gly140Arg						p.G140R	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	689	-			140						Missense_Mutation	SNP	ENST00000331162.4	37	c.418G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	0.685	-0.796621	0.02862	.	.	ENSG00000185177	ENST00000331162	T	0.06068	3.35	1.02	0.00155	0.14046	.	.	.	.	.	T	0.03434	0.0099	N	0.17474	0.49	0.09310	N	1	B	0.25390	0.125	B	0.24848	0.056	T	0.46582	-0.9181	9	0.25106	T	0.35	.	3.2079	0.06672	0.0:0.6675:0.0:0.3325	.	140	Q96JC4	ZN479_HUMAN	R	140	ENSP00000333776:G140R	ENSP00000333776:G140R	G	-	1	0	ZNF479	57192646	0.003000	0.15002	0.000000	0.03702	0.009000	0.06853	0.292000	0.19011	-0.003000	0.14444	0.400000	0.26472	GGA		0.313	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		34	155	0	0	0	0	34	155				
CALN1	83698	broad.mit.edu	37	7	71488753	71488753	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:71488753C>T	ENST00000329008.5	-	4	562	c.264G>A	c.(262-264)ggG>ggA	p.G88G	CALN1_ENST00000395275.2_Splice_Site_p.G130G|CALN1_ENST00000405452.2_Splice_Site_p.G88G|CALN1_ENST00000431984.1_Splice_Site_p.G88G|CALN1_ENST00000395276.2_Splice_Site_p.G88G|CALN1_ENST00000412588.1_Splice_Site_p.G130G	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	88	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCTGGCCATCCCCTGCAAGGA	0.458																																						uc003twa.3		NA																	0				skin(1)	1						c.(262-264)GGG>GGA		calneuron 1 isoform 2							101.0	84.0	90.0					7																	71488753		2203	4300	6503	SO:0001630	splice_region_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71488753C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.263-1G>A	7.37:g.71488753C>T						CALN1_uc003twb.3_Silent_p.G130G|CALN1_uc003twc.3_Silent_p.G88G	p.G88G	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			4	791	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	88			2 (Potential).|EF-hand 2.|Cytoplasmic (Potential).		J3KQA7	Silent	SNP	ENST00000329008.5	37	c.264G>A	CCDS5541.1																																																																																				0.458	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	Silent	13	106	0	0	0	0	13	106				
TBL2	26608	broad.mit.edu	37	7	72985181	72985181	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:72985181G>A	ENST00000305632.5	-	7	1241	c.1000C>T	c.(1000-1002)Ccg>Tcg	p.P334S	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.P298S	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	334							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGCGGCACGGCGCGGCACCC	0.602																																						uc003tyh.2		NA																	0					0						c.(1000-1002)CCG>TCG		transducin (beta)-like 2							55.0	57.0	56.0					7																	72985181		2203	4299	6502	SO:0001583	missense	26608							g.chr7:72985181G>A	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.1000C>T	7.37:g.72985181G>A	ENSP00000307260:p.Pro334Ser					TBL2_uc011kex.1_Missense_Mutation_p.P298S|TBL2_uc010lbg.2_Missense_Mutation_p.P239S|TBL2_uc003tyi.2_Missense_Mutation_p.P169S|TBL2_uc011key.1_Missense_Mutation_p.P205S|TBL2_uc010lbh.2_Missense_Mutation_p.P239S	p.P334S	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN			7	1134	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	334			WD 6.		Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.1000C>T	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	G	6.875	0.530794	0.13127	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.29917	1.55;1.55	5.79	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.480475	0.24806	N	0.035444	T	0.29458	0.0734	L	0.60455	1.87	0.31599	N	0.652933	B;B	0.28713	0.22;0.22	B;B	0.24541	0.054;0.054	T	0.36841	-0.9731	10	0.52906	T	0.07	-7.62	10.5665	0.45175	0.0882:0.0:0.9118:0.0	.	298;334	E9PF19;Q9Y4P3	.;TBL2_HUMAN	S	334;334;298	ENSP00000307260:P334S;ENSP00000413979:P298S	ENSP00000307260:P334S	P	-	1	0	TBL2	72623117	0.137000	0.22531	0.005000	0.12908	0.005000	0.04900	2.330000	0.43885	1.450000	0.47717	0.655000	0.94253	CCG		0.602	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		20	87	0	0	0	0	20	87				
EIF4H	7458	broad.mit.edu	37	7	73604022	73604022	+	Silent	SNP	C	C	T	rs575887795	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:73604022C>T	ENST00000265753.8	+	3	406	c.267C>T	c.(265-267)ttC>ttT	p.F89F	MIR590_ENST00000385008.1_RNA|EIF4H_ENST00000353999.6_Silent_p.F89F|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	89	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						ATGTAGAATTCGATGAAGTGG	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		18100	0.0		0.0	False		,,,				2504	0.002					uc003uad.1		NA																	0					0						c.(265-267)TTC>TTT		eukaryotic translation initiation factor 4H							127.0	119.0	122.0					7																	73604022		2203	4300	6503	SO:0001819	synonymous_variant	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73604022C>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.267C>T	7.37:g.73604022C>T						RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Silent_p.F89F|EIF4H_uc010lbm.2_Silent_p.F89F|EIF4H_uc003uae.1_Silent_p.F89F|EIF4H_uc003uaf.1_RNA|MIR590_hsa-mir-590|MI0003602_5'Flank	p.F89F	NM_022170	NP_071496	Q15056	IF4H_HUMAN			3	275	+			89			RRM.		A8K3R1|D3DXF6|D3DXF8	Silent	SNP	ENST00000265753.8	37	c.267C>T	CCDS5564.1																																																																																				0.408	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		8	44	0	0	0	0	8	44				
NCF1	653361	broad.mit.edu	37	7	74193715	74193715	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:74193715C>T	ENST00000289473.4	+	4	412	c.342C>T	c.(340-342)ctC>ctT	p.L114L	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	114	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	GTCCCCACCTCCTCGACTTCT	0.632																																						uc003ubb.2		NA																	0				skin(1)	1						c.(340-342)CTC>CTT		neutrophil cytosolic factor 1							54.0	41.0	46.0					7																	74193715		2196	4284	6480	SO:0001819	synonymous_variant	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74193715C>T	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.342C>T	7.37:g.74193715C>T						NCF1_uc010lbs.1_Silent_p.L114L|NCF1_uc011kfh.1_Intron	p.L114L	NM_000265	NP_000256	P14598	NCF1_HUMAN			4	412	+			114			PX.		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP	ENST00000289473.4	37	c.342C>T	CCDS34657.1																																																																																				0.632	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		6	50	0	0	0	0	6	50				
HIP1	3092	broad.mit.edu	37	7	75203141	75203141	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:75203141G>A	ENST00000336926.6	-	8	696	c.670C>T	c.(670-672)Ccg>Tcg	p.P224S	HIP1_ENST00000434438.2_Missense_Mutation_p.P224S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	224					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGATCAGCGGGGCGAGGCGG	0.547			T	PDGFRB	CMML																																	uc003uds.1		NA		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(670-672)CCG>TCG		huntingtin interacting protein 1							77.0	78.0	78.0					7																	75203141		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75203141G>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.670C>T	7.37:g.75203141G>A	ENSP00000336747:p.Pro224Ser					HIP1_uc011kfz.1_Missense_Mutation_p.P101S	p.P224S	NM_005338	NP_005329	O00291	HIP1_HUMAN			8	711	-			224					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.670C>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769978	0.90020	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.29397	1.57;1.57	5.67	5.67	0.87782	ANTH (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.85130	0.954;0.997	T	0.53781	-0.8390	10	0.45353	T	0.12	-36.5206	18.7514	0.91818	0.0:0.0:1.0:0.0	.	224;224	E7ES17;O00291	.;HIP1_HUMAN	S	224	ENSP00000336747:P224S;ENSP00000410300:P224S	ENSP00000336747:P224S	P	-	1	0	HIP1	75041077	1.000000	0.71417	0.878000	0.34440	0.692000	0.40212	9.869000	0.99810	2.680000	0.91292	0.591000	0.81541	CCG		0.547	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		28	48	0	0	0	0	28	48				
MDH2	4191	broad.mit.edu	37	7	75687336	75687336	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:75687336C>T	ENST00000315758.5	+	4	463	c.369C>T	c.(367-369)acC>acT	p.T123T	MDH2_ENST00000432020.2_Silent_p.T123T|MDH2_ENST00000443006.1_Silent_p.T16T	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	123					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						TTGTGGCCACCCTGACCGCTG	0.557																																						uc003ueo.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(367-369)ACC>ACT		mitochondrial malate dehydrogenase precursor	NADH(DB00157)						79.0	64.0	69.0					7																	75687336		2203	4300	6503	SO:0001819	synonymous_variant	4191				gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity	g.chr7:75687336C>T		CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.369C>T	7.37:g.75687336C>T						MDH2_uc003uep.2_Silent_p.T16T|MDH2_uc011kgh.1_Silent_p.T123T	p.T123T	NM_005918	NP_005909	P40926	MDHM_HUMAN			4	455	+			123					A8K414|B2RE78|B4DE44|E9PDB2|O43682	Silent	SNP	ENST00000315758.5	37	c.369C>T	CCDS5581.1																																																																																				0.557	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			9	45	0	0	0	0	9	45				
SSC4D	136853	broad.mit.edu	37	7	76019433	76019433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:76019433C>T	ENST00000275560.3	-	11	2018	c.1671G>A	c.(1669-1671)tgG>tgA	p.W557*	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGTGGGCATCCCAGCGGATAT	0.602																																						uc003ufb.2		NA																	0				pancreas(1)	1						c.(1669-1671)TGG>TGA		scavenger receptor cysteine rich domain							125.0	109.0	115.0					7																	76019433		2203	4300	6503	SO:0001587	stop_gained	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76019433C>T																												ENST00000275560.3:c.1671G>A	7.37:g.76019433C>T	ENSP00000275560:p.Trp557*					SRCRB4D_uc003ufa.2_Missense_Mutation_p.G59E	p.W557*	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			11	2019	-			557			SRCR 4.			Nonsense_Mutation	SNP	ENST00000275560.3	37	c.1671G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	41	8.873050	0.98986	.	.	ENSG00000146700	ENST00000275560	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7645	0.91866	0.0:1.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000275560:W557X	W	-	3	0	SRCRB4D	75857369	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.980000	0.70516	2.693000	0.91896	0.561000	0.74099	TGG		0.602	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			9	98	0	0	0	0	9	98				
SSC4D	136853	broad.mit.edu	37	7	76019439	76019439	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:76019439G>A	ENST00000275560.3	-	11	2012	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CATCCCAGCGGATATGAGAGC	0.612																																						uc003ufb.2		NA																	0				pancreas(1)	1						c.(1663-1665)ATC>ATT		scavenger receptor cysteine rich domain							125.0	108.0	114.0					7																	76019439		2203	4300	6503	SO:0001819	synonymous_variant	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76019439G>A																												ENST00000275560.3:c.1665C>T	7.37:g.76019439G>A						SRCRB4D_uc003ufa.2_Missense_Mutation_p.S57F	p.I555I	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			11	2013	-			555			SRCR 4.			Silent	SNP	ENST00000275560.3	37	c.1665C>T	CCDS5585.1																																																																																				0.612	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			9	96	0	0	0	0	9	96				
POMZP3	22932	broad.mit.edu	37	7	76240831	76240831	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:76240831C>T	ENST00000310842.4	-	6	1199	c.515G>A	c.(514-516)aGg>aAg	p.R172K	AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Intron|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	172										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGGCTGCCTCCTGGAATGGCT	0.537																																						uc003uft.2		NA																	0					0						c.(514-516)AGG>AAG		POMZP3 fusion protein isoform 1							85.0	84.0	85.0					7																	76240831		2201	4288	6489	SO:0001583	missense	22932							g.chr7:76240831C>T	U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.515G>A	7.37:g.76240831C>T	ENSP00000309233:p.Arg172Lys					uc003ufs.1_Intron|POMZP3_uc003ufu.2_Intron|POMZP3_uc003ufv.2_RNA|POMZP3_uc011kgm.1_RNA	p.R172K	NM_012230	NP_036362	Q6PJE2	POZP3_HUMAN			6	1262	-		Myeloproliferative disorder(862;0.204)	172					F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	37	c.515G>A	CCDS43606.1	.	.	.	.	.	.	.	.	.	.	N	10.13	1.265394	0.23136	.	.	ENSG00000146707	ENST00000310842	T	0.23147	1.92	0.786	-0.685	0.11328	.	0.837651	0.09991	U	0.729668	T	0.21062	0.0507	L	0.56769	1.78	0.09310	N	1	B	0.25955	0.138	B	0.22386	0.039	T	0.28106	-1.0054	10	0.48119	T	0.1	.	3.8479	0.08942	0.4141:0.5859:0.0:0.0	.	172	Q6PJE2	POZP3_HUMAN	K	172	ENSP00000309233:R172K	ENSP00000309233:R172K	R	-	2	0	POMZP3	76078767	0.088000	0.21588	0.044000	0.18714	0.305000	0.27757	1.185000	0.32065	-0.167000	0.10871	0.372000	0.22366	AGG		0.537	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230		17	19	0	0	0	0	17	19				
MAGI2	9863	broad.mit.edu	37	7	78636502	78636502	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:78636502G>A	ENST00000354212.4	-	2	575	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F	MAGI2_ENST00000522391.1_Missense_Mutation_p.L108F|MAGI2_ENST00000419488.1_Missense_Mutation_p.L108F|MAGI2-AS2_ENST00000411616.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	108					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAGTGACGAAGGTCTTTATCA	0.378																																						uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(322-324)CTT>TTT		membrane associated guanylate kinase, WW and PDZ							123.0	107.0	113.0					7																	78636502		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78636502G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.322C>T	7.37:g.78636502G>A	ENSP00000346151:p.Leu108Phe					MAGI2_uc003ugy.2_Missense_Mutation_p.L108F	p.L108F	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			2	576	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	108					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.322C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423883	0.83667	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.15017	2.55;2.56;2.46	5.29	5.29	0.74685	PDZ/DHR/GLGF (1);Guanylate kinase/L-type calcium channel (1);	.	.	.	.	T	0.46718	0.1407	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	T	0.50659	-0.8802	9	0.87932	D	0	.	17.9199	0.88963	0.0:0.0:1.0:0.0	.	108;108	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	F	108	ENSP00000405766:L108F;ENSP00000346151:L108F;ENSP00000428389:L108F	ENSP00000346151:L108F	L	-	1	0	MAGI2	78474438	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.525000	0.73795	2.470000	0.83445	0.637000	0.83480	CTT		0.378	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		10	63	0	0	0	0	10	63				
HGF	3082	broad.mit.edu	37	7	81381476	81381476	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:81381476C>T	ENST00000222390.5	-	5	811	c.585G>A	c.(583-585)gaG>gaA	p.E195E	HGF_ENST00000457544.2_Silent_p.E190E|HGF_ENST00000423064.2_Silent_p.E195E|HGF_ENST00000444829.2_Silent_p.E195E|HGF_ENST00000453411.1_Silent_p.E190E	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	195	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CGTAGCGTACCTCTGGATTGC	0.473																																						uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(583-585)GAG>GAA		hepatocyte growth factor isoform 1							151.0	130.0	137.0					7																	81381476		2203	4299	6502	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81381476C>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.585G>A	7.37:g.81381476C>T						HGF_uc003uhm.2_Silent_p.E190E|HGF_uc003uhn.1_Silent_p.E195E|HGF_uc003uho.1_Silent_p.E190E|HGF_uc003uhp.2_Silent_p.E195E	p.E195E	NM_000601	NP_000592	P14210	HGF_HUMAN			5	750	-			195			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.585G>A	CCDS5597.1																																																																																				0.473	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		33	69	0	0	0	0	33	69				
HGF	3082	broad.mit.edu	37	7	81381563	81381563	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:81381563G>A	ENST00000222390.5	-	5	724	c.498C>T	c.(496-498)agC>agT	p.S166S	HGF_ENST00000457544.2_Splice_Site_p.S161S|HGF_ENST00000423064.2_Silent_p.S166S|HGF_ENST00000444829.2_Silent_p.S166S|HGF_ENST00000453411.1_Splice_Site_p.S161S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	166	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TACCCCGATAGCTCGAAGGCA	0.398																																						uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(496-498)AGC>AGT		hepatocyte growth factor isoform 1							97.0	90.0	92.0					7																	81381563		2203	4300	6503	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81381563G>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.498C>T	7.37:g.81381563G>A						HGF_uc003uhm.2_Silent_p.S161S|HGF_uc003uhn.1_Silent_p.S166S|HGF_uc003uho.1_Silent_p.S161S|HGF_uc003uhp.2_Silent_p.S166S	p.S166S	NM_000601	NP_000592	P14210	HGF_HUMAN			5	663	-			166			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.498C>T	CCDS5597.1																																																																																				0.398	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		8	74	0	0	0	0	8	74				
PCLO	27445	broad.mit.edu	37	7	82544738	82544738	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82544738C>A	ENST00000333891.9	-	7	12901	c.12564G>T	c.(12562-12564)caG>caT	p.Q4188H	PCLO_ENST00000437081.1_Missense_Mutation_p.Q908H|PCLO_ENST00000423517.2_Missense_Mutation_p.Q4188H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATGCTTTGACTGCTTTTGAT	0.348																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(12562-12564)CAG>CAT		piccolo isoform 1							80.0	76.0	77.0					7																	82544738		1872	4110	5982	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544738C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12564G>T	7.37:g.82544738C>A	ENSP00000334319:p.Gln4188His					PCLO_uc003uhv.2_Missense_Mutation_p.Q4188H|PCLO_uc010lec.2_Missense_Mutation_p.Q1153H	p.Q4188H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	12853	-			4119						Missense_Mutation	SNP	ENST00000333891.9	37	c.12564G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374884	0.42105	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.19394	2.15;2.15	5.53	3.7	0.42460	.	.	.	.	.	T	0.39963	0.1098	M	0.61703	1.905	0.43913	D	0.996557	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.999	T	0.13737	-1.0498	9	0.87932	D	0	.	8.8612	0.35258	0.0:0.7693:0.0:0.2307	.	4119;4188;4188	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	H	4188;4188;908	ENSP00000334319:Q4188H;ENSP00000388393:Q4188H	ENSP00000334319:Q4188H	Q	-	3	2	PCLO	82382674	0.871000	0.30034	1.000000	0.80357	0.996000	0.88848	0.028000	0.13644	0.679000	0.31345	0.460000	0.39030	CAG		0.348	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		28	61	1	0	2.66e-16	2.75e-16	28	61				
PCLO	27445	broad.mit.edu	37	7	82544869	82544869	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82544869G>T	ENST00000333891.9	-	7	12770	c.12433C>A	c.(12433-12435)Ctt>Att	p.L4145I	PCLO_ENST00000437081.1_Missense_Mutation_p.L865I|PCLO_ENST00000423517.2_Missense_Mutation_p.L4145I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAATGAGAAAGACCAGCAAGG	0.398																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(12433-12435)CTT>ATT		piccolo isoform 1							137.0	129.0	131.0					7																	82544869		1889	4112	6001	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544869G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12433C>A	7.37:g.82544869G>T	ENSP00000334319:p.Leu4145Ile					PCLO_uc003uhv.2_Missense_Mutation_p.L4145I|PCLO_uc010lec.2_Missense_Mutation_p.L1110I	p.L4145I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	12722	-			4076						Missense_Mutation	SNP	ENST00000333891.9	37	c.12433C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	5.015	0.188501	0.09547	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17854	2.25;2.25	5.57	3.61	0.41365	.	.	.	.	.	T	0.12689	0.0308	L	0.35854	1.095	0.37666	D	0.922957	B;B;P	0.40211	0.009;0.275;0.707	B;B;B	0.36244	0.005;0.096;0.22	T	0.10706	-1.0618	9	0.87932	D	0	.	7.8538	0.29470	0.0729:0.0:0.6357:0.2914	.	4076;4145;4145	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	I	4145;4145;865	ENSP00000334319:L4145I;ENSP00000388393:L4145I	ENSP00000334319:L4145I	L	-	1	0	PCLO	82382805	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.888000	0.63164	1.305000	0.44909	0.557000	0.71058	CTT		0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		26	128	1	0	1.14e-10	1.17e-10	26	128				
PCLO	27445	broad.mit.edu	37	7	82545878	82545878	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82545878C>T	ENST00000333891.9	-	7	11761	c.11424G>A	c.(11422-11424)agG>agA	p.R3808R	PCLO_ENST00000437081.1_Silent_p.R528R|PCLO_ENST00000423517.2_Silent_p.R3808R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCCTCTTTCCTCCTGTTAA	0.448																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(11422-11424)AGG>AGA		piccolo isoform 1							198.0	177.0	183.0					7																	82545878		1909	4118	6027	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545878C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11424G>A	7.37:g.82545878C>T						PCLO_uc003uhv.2_Silent_p.R3808R|PCLO_uc010lec.2_Silent_p.R773R	p.R3808R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	11713	-			3739						Silent	SNP	ENST00000333891.9	37	c.11424G>A	CCDS47630.1																																																																																				0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	74	0	0	0	0	12	74				
PCLO	27445	broad.mit.edu	37	7	82586136	82586136	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82586136G>A	ENST00000333891.9	-	5	4470	c.4133C>T	c.(4132-4134)cCa>cTa	p.P1378L	PCLO_ENST00000423517.2_Missense_Mutation_p.P1378L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AATAAGACTTGGAATTTCACC	0.448																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(4132-4134)CCA>CTA		piccolo isoform 1							68.0	65.0	66.0					7																	82586136		1852	4092	5944	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82586136G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4133C>T	7.37:g.82586136G>A	ENSP00000334319:p.Pro1378Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P1378L	p.P1378L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	4422	-			1309						Missense_Mutation	SNP	ENST00000333891.9	37	c.4133C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097390	0.37048	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18174	2.23;2.24	5.77	5.77	0.91146	.	.	.	.	.	T	0.42381	0.1200	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.964;0.975	T	0.15206	-1.0445	9	0.87932	D	0	.	19.9855	0.97347	0.0:0.0:1.0:0.0	.	1378;1378	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1309;1378;1378	ENSP00000334319:P1378L;ENSP00000388393:P1378L	ENSP00000334319:P1378L	P	-	2	0	PCLO	82424072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.234000	0.72326	2.715000	0.92844	0.655000	0.94253	CCA		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	69	0	0	0	0	7	69				
SEMA3A	10371	broad.mit.edu	37	7	83636728	83636728	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:83636728C>T	ENST00000265362.4	-	10	1395	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G361R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	361	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TAGTTGGGTCCATCCCTGTGG	0.433																																						uc003uhz.2		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1081-1083)GGA>AGA		semaphorin 3A precursor							148.0	126.0	134.0					7																	83636728		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83636728C>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1081G>A	7.37:g.83636728C>T	ENSP00000265362:p.Gly361Arg						p.G361R	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			10	1396	-			361			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.1081G>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779856	0.90195	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.22945	1.93;1.93	4.4	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33497	-0.9866	10	0.41790	T	0.15	.	17.3506	0.87322	0.0:1.0:0.0:0.0	.	361	Q14563	SEM3A_HUMAN	R	361	ENSP00000265362:G361R;ENSP00000415260:G361R	ENSP00000265362:G361R	G	-	1	0	SEMA3A	83474664	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.154000	0.67381	0.561000	0.74099	GGA		0.433	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		15	117	0	0	0	0	15	117				
DMTF1	9988	broad.mit.edu	37	7	86803936	86803936	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:86803936C>T	ENST00000394703.5	+	9	1033	c.470C>T	c.(469-471)tCc>tTc	p.S157F	DMTF1_ENST00000413276.2_Missense_Mutation_p.S157F|DMTF1_ENST00000411766.2_Missense_Mutation_p.S116F|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000394702.3_Missense_Mutation_p.S157F|DMTF1_ENST00000432937.2_Missense_Mutation_p.S69F|DMTF1_ENST00000331242.7_Missense_Mutation_p.S157F	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	157	Interaction with CCND2. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GGGATGTGGTCCAAGGAAGAA	0.299																																						uc003uih.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(469-471)TCC>TTC		cyclin D binding myb-like transcription factor 1							133.0	135.0	134.0					7																	86803936		2203	4296	6499	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86803936C>T	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.470C>T	7.37:g.86803936C>T	ENSP00000378193:p.Ser157Phe					DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Missense_Mutation_p.S69F|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.S157F|DMTF1_uc003uim.1_Missense_Mutation_p.S157F|DMTF1_uc003uin.2_5'UTR	p.S157F	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN			7	796	+	Esophageal squamous(14;0.0058)		157			Required for transcriptional activation (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.470C>T	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858882	0.91433	.	.	ENSG00000135164	ENST00000331242;ENST00000394702;ENST00000413276;ENST00000447863;ENST00000425406;ENST00000411766;ENST00000432937;ENST00000394703;ENST00000412139;ENST00000425705	T;T;T;T	0.59364	0.27;0.41;0.3;0.27	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.74583	-0.3617	10	0.87932	D	0	-6.6873	18.7114	0.91658	0.0:1.0:0.0:0.0	.	157	Q9Y222	DMTF1_HUMAN	F	157;157;157;157;116;116;69;157;157;157	ENSP00000332171:S157F;ENSP00000402627:S157F;ENSP00000412532:S69F;ENSP00000378193:S157F	ENSP00000332171:S157F	S	+	2	0	DMTF1	86641872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.558000	0.82253	2.730000	0.93505	0.655000	0.94253	TCC		0.299	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		28	56	0	0	0	0	28	56				
RUNDC3B	154661	broad.mit.edu	37	7	87459342	87459342	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:87459342C>T	ENST00000338056.3	+	12	1830	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	RUNDC3B_ENST00000394654.3_Silent_p.S456S|RUNDC3B_ENST00000493037.1_Silent_p.S407S	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	473										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TAACTCCATCCTGAAAATTTT	0.348																																						uc003ujb.2		NA																	0				skin(1)	1						c.(1417-1419)TCC>TCT		RUN domain containing 3B isoform a							81.0	80.0	80.0					7																	87459342		2203	4300	6503	SO:0001819	synonymous_variant	154661							g.chr7:87459342C>T		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.1419C>T	7.37:g.87459342C>T						RUNDC3B_uc011khe.1_Silent_p.S456S|RUNDC3B_uc003ujc.2_Silent_p.S407S|RUNDC3B_uc003ujd.2_Silent_p.S329S	p.S473S	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			12	1830	+	Esophageal squamous(14;0.00164)		473					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Silent	SNP	ENST00000338056.3	37	c.1419C>T	CCDS5609.1																																																																																				0.348	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		9	75	0	0	0	0	9	75				
ZNF804B	219578	broad.mit.edu	37	7	88963669	88963669	+	Missense_Mutation	SNP	C	C	T	rs150650174		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:88963669C>T	ENST00000333190.4	+	4	1982	c.1373C>T	c.(1372-1374)cCt>cTt	p.P458L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	458							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTCAATGGCCTACGGAACTT	0.423										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1372-1374)CCT>CTT		zinc finger protein 804B							74.0	70.0	71.0					7																	88963669		2200	4300	6500	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963669C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1373C>T	7.37:g.88963669C>T	ENSP00000329638:p.Pro458Leu	HNSCC(36;0.09)					p.P458L	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1911	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		458					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1373C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404865	0.83230	.	.	ENSG00000182348	ENST00000333190	T	0.60299	0.2	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	T	0.78880	0.4353	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80540	-0.1337	10	0.87932	D	0	-18.8465	19.5755	0.95441	0.0:1.0:0.0:0.0	.	458	A4D1E1	Z804B_HUMAN	L	458	ENSP00000329638:P458L	ENSP00000329638:P458L	P	+	2	0	ZNF804B	88801605	1.000000	0.71417	0.976000	0.42696	0.759000	0.43091	7.320000	0.79064	2.865000	0.98341	0.655000	0.94253	CCT		0.423	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		14	98	0	0	0	0	14	98				
AKAP9	10142	broad.mit.edu	37	7	91632538	91632538	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:91632538A>T	ENST00000359028.2	+	9	3568	c.3343A>T	c.(3343-3345)Aaa>Taa	p.K1115*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.K1115*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.K1103*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1115					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAATGTACTTAAATCAGAACA	0.318			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(3307-3309)AAA>TAA		A-kinase anchor protein 9 isoform 2							56.0	58.0	57.0					7																	91632538		2203	4294	6497	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91632538A>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3343A>T	7.37:g.91632538A>T	ENSP00000351922:p.Lys1115*					AKAP9_uc003ule.2_Nonsense_Mutation_p.K1115*|AKAP9_uc003ulf.2_Nonsense_Mutation_p.K1103*|AKAP9_uc003uli.2_Nonsense_Mutation_p.K728*	p.K1103*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	3532	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1115			Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.3307A>T		.	.	.	.	.	.	.	.	.	.	A	43	9.960623	0.99305	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	5.01	2.49	0.30216	.	0.185727	0.26328	N	0.025013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9814	0.53121	0.5747:0.4252:0.0:0.0	.	.	.	.	X	1103;1115;1115;1115;1115	.	ENSP00000348573:K1103X	K	+	1	0	AKAP9	91470474	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.464000	0.45067	0.406000	0.25560	0.528000	0.53228	AAA		0.318	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		26	59	0	0	0	0	26	59				
ANKIB1	54467	broad.mit.edu	37	7	91972502	91972502	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:91972502C>T	ENST00000265742.3	+	6	1328	c.952C>T	c.(952-954)Cca>Tca	p.P318S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	318							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGTCACCTCCCCAGATGAAAT	0.448																																						uc003ulw.2		NA																	0				lung(1)	1						c.(952-954)CCA>TCA		ankyrin repeat and IBR domain containing 1							116.0	107.0	110.0					7																	91972502		1947	4148	6095	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:91972502C>T	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.952C>T	7.37:g.91972502C>T	ENSP00000265742:p.Pro318Ser						p.P318S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	1328	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		318					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.952C>T	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956786	0.73902	.	.	ENSG00000001629	ENST00000265742	T	0.11063	2.81	5.55	5.55	0.83447	.	0.055071	0.85682	D	0.000000	T	0.10294	0.0252	L	0.29908	0.895	0.58432	D	0.999999	P	0.37612	0.602	B	0.31946	0.138	T	0.08229	-1.0732	10	0.49607	T	0.09	.	19.5099	0.95137	0.0:1.0:0.0:0.0	.	318	Q9P2G1	AKIB1_HUMAN	S	318	ENSP00000265742:P318S	ENSP00000265742:P318S	P	+	1	0	ANKIB1	91810438	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.649000	0.67936	2.627000	0.88993	0.561000	0.74099	CCA		0.448	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			10	27	0	0	0	0	10	27				
COL1A2	1278	broad.mit.edu	37	7	94034999	94034999	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:94034999C>T	ENST00000297268.6	+	11	972	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	167					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCGTGGTTTCCCTGGAACTC	0.378										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(499-501)TTC>TTT		alpha 2 type I collagen precursor	Collagenase(DB00048)						165.0	162.0	163.0					7																	94034999		2203	4299	6502	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94034999C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.501C>T	7.37:g.94034999C>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_RNA	p.F167F	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		11	972	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		167					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.501C>T	CCDS34682.1																																																																																				0.378	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		23	141	0	0	0	0	23	141				
PPP1R9A	55607	broad.mit.edu	37	7	94919528	94919528	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:94919528G>A	ENST00000433881.1	+	16	3742	c.3210G>A	c.(3208-3210)agG>agA	p.R1070R	PPP1R9A_ENST00000340694.4_Silent_p.R1070R|PPP1R9A_ENST00000433360.1_Silent_p.R1346R|PPP1R9A_ENST00000424654.1_Silent_p.R1225R|PPP1R9A_ENST00000289495.5_Silent_p.R1268R|PPP1R9A_ENST00000456331.2_Silent_p.R1225R			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1070	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAGCTAAGGAGAAAGGAGC	0.448										HNSCC(28;0.073)																												uc003unp.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(3208-3210)AGG>AGA		protein phosphatase 1, regulatory (inhibitor)							108.0	102.0	104.0					7																	94919528		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94919528G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.3210G>A	7.37:g.94919528G>A		HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Silent_p.R1346R|PPP1R9A_uc011kif.1_Silent_p.R1268R|PPP1R9A_uc003unq.2_Silent_p.R1225R|PPP1R9A_uc011kig.1_Silent_p.R1062R|PPP1R9A_uc003unr.2_Silent_p.R359R	p.R1070R	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		16	3492	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		1070			Potential.|Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.3210G>A	CCDS34683.1																																																																																				0.448	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		4	27	0	0	0	0	4	27				
NPTX2	4885	broad.mit.edu	37	7	98257804	98257804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:98257804G>A	ENST00000265634.3	+	5	1324	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	387	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCGCGCACAAGAAATTGTCAA	0.572																																						uc003upl.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(1159-1161)GAA>AAA		neuronal pentraxin II precursor							101.0	80.0	87.0					7																	98257804		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98257804G>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1159G>A	7.37:g.98257804G>A	ENSP00000265634:p.Glu387Lys						p.E387K	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	1336	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		387			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.1159G>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319896	0.95682	.	.	ENSG00000106236	ENST00000265634	T	0.69435	-0.4	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.129804	0.64402	D	0.000001	T	0.79839	0.4515	M	0.88775	2.98	0.80722	D	1	P	0.47253	0.892	P	0.48488	0.579	T	0.83033	-0.0161	10	0.66056	D	0.02	-17.098	19.3514	0.94389	0.0:0.0:1.0:0.0	.	387	P47972	NPTX2_HUMAN	K	387	ENSP00000265634:E387K	ENSP00000265634:E387K	E	+	1	0	NPTX2	98095740	1.000000	0.71417	0.498000	0.27564	0.764000	0.43329	9.869000	0.99810	2.826000	0.97356	0.561000	0.74099	GAA		0.572	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		4	12	0	0	0	0	4	12				
TRRAP	8295	broad.mit.edu	37	7	98501139	98501139	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:98501139C>T	ENST00000359863.4	+	12	1244	c.1035C>T	c.(1033-1035)aaC>aaT	p.N345N	TRRAP_ENST00000355540.3_Splice_Site_p.N345N|TRRAP_ENST00000446306.3_Splice_Site_p.N345N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	345					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTGAGAAACCGTACGTCCA	0.498																																						uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(1033-1035)AAC>AAT		transformation/transcription domain-associated							176.0	150.0	159.0					7																	98501139		2203	4300	6503	SO:0001630	splice_region_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98501139C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1036+1C>T	7.37:g.98501139C>T						TRRAP_uc011kis.1_Silent_p.N345N|TRRAP_uc003upr.2_Silent_p.N37N	p.N345N	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		12	1244	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		345					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.1035C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796132	0.50208	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.63	4.75	0.60458	.	.	.	.	.	T	0.70500	0.3231	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70171	-0.4945	4	.	.	.	.	14.7227	0.69320	0.0:0.9304:0.0:0.0696	.	.	.	.	I	60	.	.	T	+	2	0	TRRAP	98339075	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.746000	0.62133	1.524000	0.49035	0.655000	0.94253	ACC		0.498	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	Silent	15	105	0	0	0	0	15	105				
CYP3A43	64816	broad.mit.edu	37	7	99459380	99459380	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:99459380G>A	ENST00000354829.2	+	11	1274	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	CYP3A43_ENST00000342499.4_Missense_Mutation_p.G251R|CYP3A43_ENST00000415413.1_Missense_Mutation_p.G180R|CYP3A43_ENST00000444905.1_Missense_Mutation_p.G138R|CYP3A43_ENST00000417625.1_Missense_Mutation_p.G281R|CYP3A43_ENST00000312017.5_Missense_Mutation_p.G391R|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G391R	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	391			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CATTCCCAAAGGGTTAGCAGT	0.453																																						uc003urx.1		NA																	0				ovary(1)|skin(1)	2						c.(1171-1173)GGG>AGG		cytochrome P450, family 3, subfamily A,	Cetirizine(DB00341)|Doxycycline(DB00254)						144.0	128.0	133.0					7																	99459380		2203	4300	6503	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99459380G>A	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1171G>A	7.37:g.99459380G>A	ENSP00000346887:p.Gly391Arg					CYP3A43_uc003ury.1_Missense_Mutation_p.G391R|CYP3A43_uc003urz.1_Missense_Mutation_p.G391R|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Missense_Mutation_p.G281R|CYP3A43_uc003usb.1_Missense_Mutation_p.G251R	p.G391R	NM_057095	NP_476436	Q9HB55	CP343_HUMAN			11	1274	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		391		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.1171G>A	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462387	0.43736	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	2.71	2.71	0.32032	.	0.124966	0.52532	D	0.000068	D	0.91136	0.7209	H	0.94582	3.555	0.53688	D	0.999979	D;D;D;D;D	0.89917	1.0;0.998;0.996;0.997;0.997	D;D;P;D;D	0.76575	0.988;0.937;0.833;0.928;0.928	D	0.92573	0.6068	10	0.72032	D	0.01	.	11.5629	0.50788	0.0:0.0:1.0:0.0	.	281;251;391;391;391	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	R	391;281;251;138;180;391;391	ENSP00000346887:G391R;ENSP00000416581:G281R;ENSP00000345351:G251R;ENSP00000405557:G138R;ENSP00000401521:G180R;ENSP00000312110:G391R;ENSP00000222382:G391R	ENSP00000222382:G391R	G	+	1	0	CYP3A43	99297316	1.000000	0.71417	0.920000	0.36463	0.031000	0.12232	4.726000	0.61986	1.821000	0.53095	0.404000	0.27445	GGG		0.453	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			25	104	0	0	0	0	25	104				
MCM7	4176	broad.mit.edu	37	7	99696750	99696750	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:99696750A>G	ENST00000303887.5	-	5	1123	c.478T>C	c.(478-480)Ttg>Ctg	p.L160L	AP4M1_ENST00000359593.4_5'Flank|MCM7_ENST00000354230.3_5'UTR|AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000421755.1_5'Flank|MCM7_ENST00000343023.6_Silent_p.L160L|AP4M1_ENST00000429084.1_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	160					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGTTACCAACTTCCCCACA	0.527																																						uc003usw.1		NA																	0					0						c.(478-480)TTG>CTG		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						122.0	104.0	110.0					7																	99696750		2203	4300	6503	SO:0001819	synonymous_variant	4176				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|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99696750A>G		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.478T>C	7.37:g.99696750A>G						MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank	p.L160L	NM_005916	NP_005907	P33993	MCM7_HUMAN			5	988	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		160					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	c.478T>C	CCDS5683.1																																																																																				0.527	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			34	54	0	0	0	0	34	54				
ZCWPW1	55063	broad.mit.edu	37	7	99998661	99998661	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:99998661G>A	ENST00000398027.2	-	18	2170	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000490721.1_Silent_p.F470F|ZCWPW1_ENST00000324725.6_Silent_p.F470F	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	641							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCCACGGGGAAGTCCTCGC	0.597																																						uc003uut.2		NA																	0					0						c.(1921-1923)TTC>TTT		zinc finger, CW type with PWWP domain 1							46.0	50.0	48.0					7																	99998661		2080	4206	6286	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:99998661G>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1923C>T	7.37:g.99998661G>A						ZCWPW1_uc011kjq.1_Silent_p.F521F|ZCWPW1_uc003uur.2_3'UTR|ZCWPW1_uc003uus.2_Silent_p.F470F|ZCWPW1_uc011kjr.1_3'UTR|ZCWPW1_uc011kjp.1_RNA	p.F641F	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			18	2171	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		641					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.1923C>T	CCDS43623.1																																																																																				0.597	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		6	35	0	0	0	0	6	35				
PPP1R35	221908	broad.mit.edu	37	7	100033362	100033362	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100033362G>A	ENST00000292330.2	-	3	670	c.480C>T	c.(478-480)ctC>ctT	p.L160L	RP11-758P17.2_ENST00000492523.1_RNA|PPP1R35_ENST00000476185.1_Intron|RP11-758P17.3_ENST00000475250.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	PPR35_HUMAN	protein phosphatase 1, regulatory subunit 35	160					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGTCCCGGAAGAGCCGCTTGG	0.721																																						uc003uuy.1		NA																	0				ovary(1)	1						c.(478-480)CTC>CTT		hypothetical protein LOC221908							13.0	15.0	14.0					7																	100033362		2194	4292	6486	SO:0001819	synonymous_variant	221908							g.chr7:100033362G>A	BC026269	CCDS5694.1	7q22.1	2012-04-17	2011-10-11	2011-10-11	ENSG00000160813	ENSG00000160813		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28320	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 47"""	C7orf47		12477932	Standard	NM_145030		Approved	MGC22793	uc003uuy.1	Q8TAP8	OTTHUMG00000159540	ENST00000292330.2:c.480C>T	7.37:g.100033362G>A						C7orf47_uc003uux.1_Silent_p.L58L	p.L160L	NM_145030	NP_659467	Q8TAP8	CG047_HUMAN			3	577	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		160					A4D2C5	Silent	SNP	ENST00000292330.2	37	c.480C>T	CCDS5694.1																																																																																				0.721	PPP1R35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356095.2	NM_145030		6	12	0	0	0	0	6	12				
FBXO24	26261	broad.mit.edu	37	7	100189332	100189332	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100189332G>A	ENST00000241071.6	+	4	687	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	FBXO24_ENST00000360609.2_Missense_Mutation_p.R108Q|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.R160Q|FBXO24_ENST00000465843.1_Missense_Mutation_p.R108Q|FBXO24_ENST00000468962.1_Missense_Mutation_p.R110Q|FBXO24_ENST00000498195.1_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	122					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCCGCCGCCGATGTCTCAGC	0.582																																						uc003uvm.1		NA																	0				ovary(3)|skin(1)	4						c.(364-366)CGA>CAA		F-box only protein 24 isoform 1							60.0	60.0	60.0					7																	100189332		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100189332G>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.365G>A	7.37:g.100189332G>A	ENSP00000241071:p.Arg122Gln					FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.R108Q|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.R160Q|FBXO24_uc011kka.1_Missense_Mutation_p.R110Q	p.R122Q	NM_033506	NP_277041	O75426	FBX24_HUMAN			4	658	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		122					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.365G>A	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796162	0.70567	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T	0.54071	2.07;0.59;0.59;2.07;2.04	4.89	4.89	0.63831	F-box domain, Skp2-like (1);	0.099758	0.43260	D	0.000581	T	0.28034	0.0691	N	0.08118	0	0.35744	D	0.81893	P;P;P;P	0.51791	0.76;0.913;0.85;0.948	B;B;B;B	0.37601	0.123;0.123;0.123;0.254	T	0.44421	-0.9329	10	0.87932	D	0	-14.5467	9.1003	0.36664	0.0973:0.0:0.9027:0.0	.	110;160;122;108	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	Q	122;108;108;127;110;160	ENSP00000241071:R122Q;ENSP00000353821:R108Q;ENSP00000419602:R108Q;ENSP00000420239:R110Q;ENSP00000416558:R160Q	ENSP00000241071:R122Q	R	+	2	0	FBXO24	100027268	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.387000	0.44389	2.565000	0.86533	0.558000	0.71614	CGA		0.582	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			13	81	0	0	0	0	13	81				
ZAN	7455	broad.mit.edu	37	7	100350374	100350375	+	RNA	DNP	GG	GG	AA	rs565232749	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100350374_100350375GG>AA	ENST00000348028.3	+	0	2811_2812				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATCCCCACGGAAAAACCCAC	0.505																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2644-2649)ACGGAA>ACAAAA		zonadhesin isoform 3																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350374_100350375GG>AA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037	Exception_encountered	7.37:g.100350374_100350375delinsAA						ZAN_uc003uwk.2_Missense_Mutation_p.E883K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.E883K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2811_2812	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		883			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	DNP	ENST00000348028.3	37	c.2646_2647GG>AA																																																																																					0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		28	98	0	0	0	0	28	98				
MUC17	140453	broad.mit.edu	37	7	100677450	100677450	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100677450C>T	ENST00000306151.4	+	3	2817	c.2753C>T	c.(2752-2754)aCt>aTt	p.T918I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	918	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACCTCAACTCCTGGGGAA	0.507																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2752-2754)ACT>ATT		mucin 17 precursor							359.0	324.0	336.0					7																	100677450		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677450C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2753C>T	7.37:g.100677450C>T	ENSP00000302716:p.Thr918Ile					MUC17_uc010lho.1_RNA	p.T918I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2806	+	Lung NSC(181;0.136)|all_lung(186;0.182)		918			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2753C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.479	0.088801	0.08583	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	1.19	1.19	0.21007	.	.	.	.	.	T	0.02012	0.0063	N	0.14661	0.345	0.09310	N	1	D	0.54964	0.969	B	0.41236	0.351	T	0.53380	-0.8447	9	0.37606	T	0.19	.	8.4004	0.32583	0.0:1.0:0.0:0.0	.	918	Q685J3	MUC17_HUMAN	I	918	ENSP00000302716:T918I	ENSP00000302716:T918I	T	+	2	0	MUC17	100464170	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.398000	0.20899	1.000000	0.39049	0.134000	0.15878	ACT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		40	791	0	0	0	0	40	791				
MUC17	140453	broad.mit.edu	37	7	100677989	100677989	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100677989G>A	ENST00000306151.4	+	3	3356	c.3292G>A	c.(3292-3294)Gaa>Aaa	p.E1098K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1098	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTTATAGTGAAGGAAGCAC	0.517																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3292-3294)GAA>AAA		mucin 17 precursor							481.0	385.0	417.0					7																	100677989		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677989G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3292G>A	7.37:g.100677989G>A	ENSP00000302716:p.Glu1098Lys					MUC17_uc010lho.1_RNA	p.E1098K	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3345	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1098			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|16.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3292G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	5.267	0.234629	0.09969	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.801	0.801	0.18679	.	.	.	.	.	T	0.01222	0.0040	N	0.19112	0.55	0.09310	N	1	P	0.42993	0.797	B	0.28638	0.092	T	0.30966	-0.9960	9	0.06494	T	0.89	.	4.9541	0.14031	0.0:0.0:1.0:0.0	.	1098	Q685J3	MUC17_HUMAN	K	1098	ENSP00000302716:E1098K	ENSP00000302716:E1098K	E	+	1	0	MUC17	100464709	0.013000	0.17824	0.001000	0.08648	0.007000	0.05969	2.180000	0.42537	0.727000	0.32360	0.196000	0.17591	GAA		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		79	777	0	0	0	0	79	777				
MUC17	140453	broad.mit.edu	37	7	100678973	100678973	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100678973C>T	ENST00000306151.4	+	3	4340	c.4276C>T	c.(4276-4278)Cct>Tct	p.P1426S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1426	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCAGCACCCCTGGGACCAC	0.498																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4276-4278)CCT>TCT		mucin 17 precursor							224.0	236.0	232.0					7																	100678973		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678973C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4276C>T	7.37:g.100678973C>T	ENSP00000302716:p.Pro1426Ser					MUC17_uc010lho.1_RNA	p.P1426S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4329	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1426			Extracellular (Potential).|Ser-rich.|22.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4276C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.549337	0.00926	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	1.19	-2.38	0.06622	.	.	.	.	.	T	0.01765	0.0056	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.49143	-0.8970	9	0.05721	T	0.95	.	0.5486	0.00658	0.3966:0.2356:0.1978:0.1701	.	1426	Q685J3	MUC17_HUMAN	S	1426	ENSP00000302716:P1426S	ENSP00000302716:P1426S	P	+	1	0	MUC17	100465693	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.514000	0.02254	-2.590000	0.00457	-1.421000	0.01109	CCT		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		102	433	0	0	0	0	102	433				
MUC17	140453	broad.mit.edu	37	7	100680999	100680999	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100680999G>A	ENST00000306151.4	+	3	6366	c.6302G>A	c.(6301-6303)aGt>aAt	p.S2101N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2101	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGAAGGAAGTCCTCTACTA	0.507																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(6301-6303)AGT>AAT		mucin 17 precursor							203.0	201.0	202.0					7																	100680999		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680999G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6302G>A	7.37:g.100680999G>A	ENSP00000302716:p.Ser2101Asn					MUC17_uc010lho.1_RNA	p.S2101N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	6355	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2101			Extracellular (Potential).|33.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6302G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.365373	0.00212	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.791	-1.58	0.08479	.	.	.	.	.	T	0.01976	0.0062	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47497	-0.9113	9	0.40728	T	0.16	.	1.0485	0.01575	0.2003:0.3941:0.2087:0.1969	.	2101	Q685J3	MUC17_HUMAN	N	2101	ENSP00000302716:S2101N	ENSP00000302716:S2101N	S	+	2	0	MUC17	100467719	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.668000	0.05268	-4.610000	0.00040	-3.747000	0.00022	AGT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		50	292	0	0	0	0	50	292				
CUX1	1523	broad.mit.edu	37	7	101891804	101891804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:101891804G>A	ENST00000292535.7	+	24	4038	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K	CUX1_ENST00000550008.2_Missense_Mutation_p.E1278K|CUX1_ENST00000549414.2_Missense_Mutation_p.E1312K|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.E1176K|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.E1232K|CUX1_ENST00000360264.3_Missense_Mutation_p.E1345K|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1334					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCCAGCTCGGAGGGCGACAG	0.721																																						uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(4000-4002)GAG>AAG		cut-like homeobox 1 isoform a							4.0	6.0	5.0					7																	101891804		1855	3556	5411	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101891804G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.4000G>A	7.37:g.101891804G>A	ENSP00000292535:p.Glu1334Lys					CUX1_uc003uys.3_Missense_Mutation_p.E1345K|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.E1334K	NM_181552	NP_853530	P39880	CUX1_HUMAN			24	4038	+			1334					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.4000G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053509	0.93793	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.61040	0.16;0.17;0.16;0.14;0.15;0.15	3.96	3.96	0.45880	.	0.121321	0.53938	D	0.000047	T	0.64494	0.2603	L	0.53249	1.67	0.80722	D	1	B;D	0.54207	0.39;0.965	B;P	0.53360	0.076;0.724	T	0.67979	-0.5530	10	0.48119	T	0.1	-12.0367	16.1792	0.81889	0.0:0.0:1.0:0.0	.	1334;1345	P39880;P39880-3	CUX1_HUMAN;.	K	1345;1334;1312;1278;1232;1176	ENSP00000353401:E1345K;ENSP00000292535:E1334K;ENSP00000446630:E1312K;ENSP00000447373:E1278K;ENSP00000450125:E1232K;ENSP00000451558:E1176K	ENSP00000292535:E1334K	E	+	1	0	CUX1	101678524	1.000000	0.71417	0.881000	0.34555	0.867000	0.49689	6.268000	0.72552	2.020000	0.59435	0.561000	0.74099	GAG		0.721	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		3	11	0	0	0	0	3	11				
LHFPL3	375612	broad.mit.edu	37	7	104377334	104377334	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:104377334G>A	ENST00000401970.2	+	2	738	c.616G>A	c.(616-618)Gag>Aag	p.E206K	LHFPL3_ENST00000543266.1_Missense_Mutation_p.E220K|LHFPL3_ENST00000535008.1_Missense_Mutation_p.E220K|LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000424859.1_Missense_Mutation_p.E206K|LHFPL3-AS1_ENST00000449764.1_RNA			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	220						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						CTTGATGGCAGAGGAACTGAA	0.443																																						uc003vce.2		NA																	0					0						c.(658-660)GAG>AAG		lipoma HMGIC fusion partner-like 3							57.0	54.0	55.0					7																	104377334		1905	4143	6048	SO:0001583	missense	375612					integral to membrane		g.chr7:104377334G>A	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.616G>A	7.37:g.104377334G>A	ENSP00000385374:p.Glu206Lys					LHFPL3_uc003vcf.2_Missense_Mutation_p.E220K	p.E220K	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN			2	782	+			206					A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000401970.2	37	c.658G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.463998	0.96257	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	T;T;T;T	0.73363	-0.69;-0.74;-0.72;-0.74	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.85626	0.5740	M	0.79475	2.455	0.80722	D	1	P;D	0.58620	0.955;0.983	P;P	0.60949	0.717;0.881	D	0.84833	0.0803	10	0.46703	T	0.11	-16.8768	20.0845	0.97795	0.0:0.0:1.0:0.0	.	220;220	A1L384;A4D0Q5	.;.	K	206;220;206;220	ENSP00000393128:E206K;ENSP00000444350:E220K;ENSP00000385374:E206K;ENSP00000445976:E220K	ENSP00000385374:E206K	E	+	1	0	LHFPL3	104164570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.821000	0.97095	0.650000	0.86243	GAG		0.443	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		3	20	0	0	0	0	3	20				
LAMB1	3912	broad.mit.edu	37	7	107603364	107603364	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:107603364G>A	ENST00000222399.6	-	15	2073	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	LAMB1_ENST00000393561.1_Missense_Mutation_p.R639C|LAMB1_ENST00000393560.1_Missense_Mutation_p.R615C	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	615	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.R615C(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGCTCGTAGCGAATTAGGATG	0.453																																						uc003vew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(1843-1845)CGC>TGC		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						83.0	83.0	83.0					7																	107603364		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107603364G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1843C>T	7.37:g.107603364G>A	ENSP00000222399:p.Arg615Cys					LAMB1_uc003vev.2_Missense_Mutation_p.R639C|LAMB1_uc003vex.2_Missense_Mutation_p.R615C|LAMB1_uc010ljn.1_Missense_Mutation_p.R701C	p.R615C	NM_002291	NP_002282	P07942	LAMB1_HUMAN			15	2178	-			615			Laminin IV type B.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.1843C>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688937	0.68271	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.52295	0.82;0.83;0.67	4.72	4.72	0.59763	Laminin IV (1);	.	.	.	.	T	0.68485	0.3006	M	0.77103	2.36	0.80722	D	1	D;P;B	0.89917	1.0;0.682;0.296	D;B;B	0.63488	0.915;0.107;0.055	T	0.74714	-0.3572	9	0.87932	D	0	.	17.7011	0.88295	0.0:0.0:1.0:0.0	.	615;615;639	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	C	639;615;615	ENSP00000377191:R639C;ENSP00000222399:R615C;ENSP00000377190:R615C	ENSP00000222399:R615C	R	-	1	0	LAMB1	107390600	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.480000	0.81109	2.181000	0.69327	0.563000	0.77884	CGC		0.453	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		16	100	0	0	0	0	16	100				
NRCAM	4897	broad.mit.edu	37	7	107836218	107836218	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:107836218G>A	ENST00000425651.2	-	12	1449	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	NRCAM_ENST00000351718.4_Missense_Mutation_p.P478S|NRCAM_ENST00000379022.4_Missense_Mutation_p.P484S|NRCAM_ENST00000379028.3_Missense_Mutation_p.P484S|NRCAM_ENST00000413765.2_Missense_Mutation_p.P465S|NRCAM_ENST00000379024.4_Missense_Mutation_p.P465S	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	484	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCGATGGTTGGGAGAGGAGAC	0.423																																						uc003vfb.2		NA																	0				ovary(3)|breast(2)	5						c.(1450-1452)CCA>TCA		neuronal cell adhesion molecule isoform A							129.0	109.0	116.0					7																	107836218		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107836218G>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1450C>T	7.37:g.107836218G>A	ENSP00000401244:p.Pro484Ser					NRCAM_uc003vfc.2_Missense_Mutation_p.P478S|NRCAM_uc011kmk.1_Missense_Mutation_p.P479S|NRCAM_uc003vfd.2_Missense_Mutation_p.P460S|NRCAM_uc003vfe.2_Missense_Mutation_p.P460S	p.P484S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			15	1921	-			484			Ig-like 5.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1450C>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791592	0.70452	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.2	5.2	0.72013	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	M	0.93462	3.42	0.80722	D	1	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;0.99	D	0.91378	0.5125	10	0.66056	D	0.02	.	18.7397	0.91769	0.0:0.0:1.0:0.0	.	484;465;465;478;484	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	S	484;484;465;484;478;465;484;484;478	ENSP00000368314:P484S;ENSP00000407858:P465S;ENSP00000325269:P478S;ENSP00000368310:P465S;ENSP00000401244:P484S;ENSP00000368308:P484S	ENSP00000325269:P478S	P	-	1	0	NRCAM	107623454	1.000000	0.71417	0.411000	0.26484	0.611000	0.37282	9.462000	0.97649	2.413000	0.81919	0.563000	0.77884	CCA		0.423	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		4	23	0	0	0	0	4	23				
IFRD1	3475	broad.mit.edu	37	7	112108061	112108061	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:112108061C>T	ENST00000403825.3	+	9	1193	c.932C>T	c.(931-933)tCc>tTc	p.S311F	IFRD1_ENST00000005558.4_Missense_Mutation_p.S311F|IFRD1_ENST00000535603.1_Missense_Mutation_p.S261F	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	311					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GACATGGAGTCCTTGACGCAG	0.408																																						uc003vgh.2		NA																	0				kidney(1)|central_nervous_system(1)	2						c.(931-933)TCC>TTC		interferon-related developmental regulator 1							85.0	81.0	82.0					7																	112108061		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112108061C>T	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.932C>T	7.37:g.112108061C>T	ENSP00000384477:p.Ser311Phe					IFRD1_uc011kmn.1_Missense_Mutation_p.S261F|IFRD1_uc003vgj.2_Missense_Mutation_p.S311F|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.S261F|IFRD1_uc003vgk.2_Missense_Mutation_p.S28F	p.S311F	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN			10	1375	+			311					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.932C>T	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052410	0.55218	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000421296	T;T;T	0.66280	-0.2;-0.2;-0.2	5.68	5.68	0.88126	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.312185	0.33419	N	0.004924	T	0.63390	0.2507	L	0.42245	1.32	0.34099	D	0.661631	P;P	0.41232	0.743;0.743	P;P	0.49561	0.615;0.615	T	0.74423	-0.3670	10	0.62326	D	0.03	-16.9539	10.8311	0.46661	0.0:0.8848:0.0:0.1152	.	311;311	A4D0U1;O00458	.;IFRD1_HUMAN	F	311;311;46;261;46	ENSP00000005558:S311F;ENSP00000384477:S311F;ENSP00000439188:S261F	ENSP00000005558:S311F	S	+	2	0	IFRD1	111895297	0.784000	0.28713	1.000000	0.80357	0.930000	0.56654	3.300000	0.51834	2.677000	0.91161	0.650000	0.86243	TCC		0.408	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		7	51	0	0	0	0	7	51				
FOXP2	93986	broad.mit.edu	37	7	114284804	114284805	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:114284804_114284805GG>AA	ENST00000393494.2	+	8	1333_1334	c.1054_1055GG>AA	c.(1054-1056)GGc>AAc	p.G352N	FOXP2_ENST00000393500.3_Missense_Mutation_p.G277N|FOXP2_ENST00000393489.3_Missense_Mutation_p.G260N|FOXP2_ENST00000360232.4_Missense_Mutation_p.G352N|FOXP2_ENST00000393491.3_Missense_Mutation_p.G260N|FOXP2_ENST00000390668.3_Missense_Mutation_p.G376N|FOXP2_ENST00000403559.4_Missense_Mutation_p.G369N|FOXP2_ENST00000350908.4_Missense_Mutation_p.G352N|FOXP2_ENST00000393498.2_Missense_Mutation_p.G331N|FOXP2_ENST00000408937.3_Missense_Mutation_p.G377N|FOXP2_ENST00000378237.3_Missense_Mutation_p.G352N			O15409	FOXP2_HUMAN	forkhead box P2	352					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CAAATGGCCAGGCTGTGAAAGC	0.455																																						uc003vhb.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(1054-1056)GGC>AAC		forkhead box P2 isoform I																																				SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114284804_114284805GG>AA	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	Exception_encountered	7.37:g.114284804_114284805delinsAA	ENSP00000377132:p.Gly352Asn					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.G377N|FOXP2_uc003vha.2_Missense_Mutation_p.G260N|FOXP2_uc011kmu.1_Missense_Mutation_p.G369N|FOXP2_uc011kmv.1_Missense_Mutation_p.G351N|FOXP2_uc010ljz.1_Missense_Mutation_p.G260N|FOXP2_uc003vgx.2_Missense_Mutation_p.G352N|FOXP2_uc003vhd.2_Missense_Mutation_p.G352N|FOXP2_uc003vhc.2_Missense_Mutation_p.G377N	p.G352N	NM_014491	NP_055306	O15409	FOXP2_HUMAN			8	1428_1429	+			352			C2H2-type.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	DNP	ENST00000393494.2	37	c.1054_1055GG>AA	CCDS5760.1																																																																																				0.455	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		13	49	0	0	0	0	13	49				
ST7	7982	broad.mit.edu	37	7	116759690	116759690	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:116759690C>T	ENST00000393446.2	+	3	613	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F	ST7_ENST00000422922.1_Missense_Mutation_p.L58F|ST7-AS2_ENST00000434993.1_RNA|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000487459.1_3'UTR|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000393443.1_Missense_Mutation_p.L54F|ST7_ENST00000265437.5_Missense_Mutation_p.L104F|ST7_ENST00000393449.1_Missense_Mutation_p.L104F|ST7_ENST00000393444.3_Missense_Mutation_p.L61F|ST7_ENST00000393447.4_Missense_Mutation_p.L61F|ST7_ENST00000465133.1_Missense_Mutation_p.L61F|ST7_ENST00000393451.3_Missense_Mutation_p.L104F|ST7_ENST00000432298.1_Missense_Mutation_p.L58F|ST7_ENST00000323984.3_Missense_Mutation_p.L104F			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTTGCGCCCCCTTCTGGGAGG	0.418																																						uc003vin.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(310-312)CTT>TTT		suppression of tumorigenicity 7 isoform b							111.0	111.0	111.0					7																	116759690		2203	4300	6503	SO:0001583	missense	7982					integral to membrane	binding	g.chr7:116759690C>T	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.310C>T	7.37:g.116759690C>T	ENSP00000377092:p.Leu104Phe					ST7_uc011knl.1_Missense_Mutation_p.L104F|ST7_uc003vio.2_Missense_Mutation_p.L104F|ST7_uc003viq.2_Missense_Mutation_p.L58F|ST7_uc011knm.1_Missense_Mutation_p.L61F|ST7_uc003vir.2_Missense_Mutation_p.L52F|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Missense_Mutation_p.L52F|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR	p.L104F	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	524	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		104					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.310C>T		.	.	.	.	.	.	.	.	.	.	C	24.9	4.583334	0.86748	.	.	ENSG00000004866	ENST00000393446;ENST00000265437;ENST00000393451;ENST00000323984;ENST00000393449;ENST00000417919;ENST00000446490;ENST00000421345;ENST00000432298;ENST00000422922;ENST00000449366;ENST00000393443;ENST00000465133;ENST00000477742;ENST00000393447;ENST00000393444;ENST00000420755;ENST00000490039	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	M	0.79805	2.47	0.80722	D	1	D;P;D;P;D;D;P	0.76494	0.999;0.553;0.999;0.948;0.958;0.999;0.949	D;P;D;P;P;D;P	0.83275	0.996;0.466;0.996;0.736;0.864;0.994;0.793	T	0.52601	-0.8554	10	0.54805	T	0.06	-11.9193	13.4513	0.61172	0.0:0.9283:0.0:0.0717	.	52;61;104;54;58;104;104	C9JU30;B7Z4L1;B7Z573;Q9NRC1-6;B7Z4U3;Q9NRC1-2;Q9NRC1	.;.;.;.;.;.;ST7_HUMAN	F	104;104;104;104;104;54;104;52;58;58;54;54;61;52;61;61;52;52	ENSP00000377092:L104F;ENSP00000265437:L104F;ENSP00000377097:L104F;ENSP00000325673:L104F;ENSP00000377095:L104F;ENSP00000391444:L54F;ENSP00000402934:L104F;ENSP00000416858:L52F;ENSP00000411118:L58F;ENSP00000414031:L58F;ENSP00000413601:L54F;ENSP00000377089:L54F;ENSP00000420052:L61F;ENSP00000419715:L52F;ENSP00000377093:L61F;ENSP00000377090:L61F;ENSP00000388698:L52F;ENSP00000419516:L52F	ENSP00000265437:L104F	L	+	1	0	ST7	116546926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.776000	0.68924	2.884000	0.98904	0.655000	0.94253	CTT		0.418	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		18	109	0	0	0	0	18	109				
KCND2	3751	broad.mit.edu	37	7	120373073	120373073	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:120373073G>T	ENST00000331113.4	+	2	2197	c.1232G>T	c.(1231-1233)cGc>cTc	p.R411L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	411					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AACTTCAGTCGCATCTACCAC	0.458																																						uc003vjj.1		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1231-1233)CGC>CTC		potassium voltage-gated channel, Shal-related							177.0	147.0	158.0					7																	120373073		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120373073G>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1232G>T	7.37:g.120373073G>T	ENSP00000333496:p.Arg411Leu						p.R411L	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			2	2197	+	all_neural(327;0.117)		411			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.1232G>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480878	0.96307	.	.	ENSG00000184408	ENST00000331113	D	0.98060	-4.69	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	D	0.98557	0.9518	M	0.83953	2.67	0.58432	D	0.999998	D	0.60160	0.987	P	0.60886	0.88	D	0.98985	1.0806	9	.	.	.	.	18.807	0.92041	0.0:0.0:1.0:0.0	.	411	Q9NZV8	KCND2_HUMAN	L	411	ENSP00000333496:R411L	.	R	+	2	0	KCND2	120160309	1.000000	0.71417	0.961000	0.40146	0.929000	0.56500	9.823000	0.99369	2.530000	0.85305	0.655000	0.94253	CGC		0.458	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		21	56	1	0	9.63e-23	1e-22	21	56				
ING3	54556	broad.mit.edu	37	7	120608018	120608018	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:120608018C>T	ENST00000315870.5	+	8	735	c.587C>T	c.(586-588)tCt>tTt	p.S196F	ING3_ENST00000431467.1_Missense_Mutation_p.S181F	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	196					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACAGCCTCTTCTAACAATGCC	0.388																																						uc003vjn.2		NA																	0				ovary(1)	1						c.(586-588)TCT>TTT		inhibitor of growth family, member 3 isoform 1							99.0	98.0	98.0					7																	120608018		2203	4300	6503	SO:0001583	missense	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120608018C>T	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.587C>T	7.37:g.120608018C>T	ENSP00000320566:p.Ser196Phe					ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.S196F|ING3_uc011kns.1_Missense_Mutation_p.S181F	p.S196F	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN			8	721	+	all_neural(327;0.117)		196					A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	37	c.587C>T	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284989	0.59867	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	T;T	0.42900	0.96;0.96	6.07	5.18	0.71444	.	0.217452	0.49305	D	0.000147	T	0.38427	0.1040	L	0.44542	1.39	0.44454	D	0.997383	P;P	0.44578	0.838;0.61	B;B	0.38712	0.28;0.28	T	0.33727	-0.9857	10	0.59425	D	0.04	-3.1961	17.0713	0.86574	0.0:0.8691:0.1309:0.0	.	196;196	Q5GRH6;Q9NXR8	.;ING3_HUMAN	F	196;181	ENSP00000320566:S196F;ENSP00000388506:S181F	ENSP00000320566:S196F	S	+	2	0	ING3	120395254	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	5.779000	0.68948	1.537000	0.49254	0.655000	0.94253	TCT		0.388	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		11	119	0	0	0	0	11	119				
CPED1	79974	broad.mit.edu	37	7	120782185	120782185	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:120782185G>A	ENST00000310396.5	+	16	2512	c.2045G>A	c.(2044-2046)gGt>gAt	p.G682D	CPED1_ENST00000450913.2_Missense_Mutation_p.G682D|CPED1_ENST00000423795.1_Missense_Mutation_p.G462D	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	682						endoplasmic reticulum (GO:0005783)											ACAGCATGTGGTTTTGTGCAG	0.438																																						uc003vjq.3		NA																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2044-2046)GGT>GAT		hypothetical protein LOC79974 isoform 1							176.0	155.0	162.0					7																	120782185		2203	4299	6502	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120782185G>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2045G>A	7.37:g.120782185G>A	ENSP00000309772:p.Gly682Asp					C7orf58_uc003vjs.3_Missense_Mutation_p.G682D|C7orf58_uc003vjt.3_Missense_Mutation_p.G462D	p.G682D	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			16	2492	+	all_neural(327;0.117)		682					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2045G>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651200	0.88056	.	.	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.24908	2.15;1.83;1.83	5.66	5.66	0.87406	.	0.182174	0.49305	D	0.000148	T	0.45856	0.1363	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.968	D;D;P	0.97110	1.0;1.0;0.676	T	0.23404	-1.0189	10	0.56958	D	0.05	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	462;682;682	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	D	682;682;462	ENSP00000309772:G682D;ENSP00000406122:G682D;ENSP00000415573:G462D	ENSP00000309772:G682D	G	+	2	0	C7orf58	120569421	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.103000	0.77014	2.826000	0.97356	0.655000	0.94253	GGT		0.438	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		43	93	0	0	0	0	43	93				
LMOD2	442721	broad.mit.edu	37	7	123302483	123302483	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:123302483G>A	ENST00000458573.2	+	2	1000	c.843G>A	c.(841-843)acG>acA	p.T281T	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	281						cytoskeleton (GO:0005856)											ACTTCATAACGGGAAAGGGGA	0.552																																						uc003vky.2		NA																	0					0						c.(841-843)ACG>ACA		leiomodin 2 (cardiac)							91.0	89.0	90.0					7																	123302483		2138	4244	6382	SO:0001819	synonymous_variant	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302483G>A	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.843G>A	7.37:g.123302483G>A							p.T281T	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			2	1000	+			281					A4D0W9|A4D0Y2|Q8WVJ8	Silent	SNP	ENST00000458573.2	37	c.843G>A	CCDS47693.1																																																																																				0.552	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			32	43	0	0	0	0	32	43				
GRM8	2918	broad.mit.edu	37	7	126086395	126086395	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:126086395G>A	ENST00000339582.2	-	10	3270	c.2462C>T	c.(2461-2463)tCc>tTc	p.S821F	GRM8_ENST00000444921.2_Missense_Mutation_p.S821F|GRM8_ENST00000358373.3_Missense_Mutation_p.S821F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	821					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TAAACTCATGGAGACAGTAAG	0.368										HNSCC(24;0.065)																												uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2461-2463)TCC>TTC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						56.0	55.0	55.0					7																	126086395		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126086395G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2462C>T	7.37:g.126086395G>A	ENSP00000344173:p.Ser821Phe	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S821F|GRM8_uc010lkz.1_RNA	p.S821F	NM_000845	NP_000836	O00222	GRM8_HUMAN			9	2773	-		Prostate(267;0.186)	821			Helical; Name=7; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2462C>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689950	0.88735	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88509	-2.39;-2.39;-2.39	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93242	0.7847	L	0.50993	1.605	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.968	D	0.93269	0.6650	10	0.87932	D	0	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	821;821	O00222-2;O00222	.;GRM8_HUMAN	F	821	ENSP00000344173:S821F;ENSP00000409790:S821F;ENSP00000351142:S821F	ENSP00000344173:S821F	S	-	2	0	GRM8	125873631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.830000	0.99415	2.826000	0.97356	0.655000	0.94253	TCC		0.368	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			11	37	0	0	0	0	11	37				
GRM8	2918	broad.mit.edu	37	7	126410011	126410011	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:126410011T>A	ENST00000339582.2	-	7	2073	c.1265A>T	c.(1264-1266)gAt>gTt	p.D422V	GRM8_ENST00000444921.2_Missense_Mutation_p.D422V|GRM8_ENST00000358373.3_Missense_Mutation_p.D422V|GRM8_ENST00000405249.1_Missense_Mutation_p.D422V|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	422					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGGGCAGAGATCTTTGTGCAT	0.413										HNSCC(24;0.065)																												uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1264-1266)GAT>GTT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						146.0	129.0	135.0					7																	126410011		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126410011T>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1265A>T	7.37:g.126410011T>A	ENSP00000344173:p.Asp422Val	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.D422V|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.D143V	p.D422V	NM_000845	NP_000836	O00222	GRM8_HUMAN			6	1576	-		Prostate(267;0.186)	422			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1265A>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590028	0.46214	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.88	4.71	0.59529	Extracellular ligand-binding receptor (1);	0.286278	0.38058	N	0.001829	D	0.88314	0.6403	M	0.85462	2.755	0.80722	D	1	P;B;B	0.47910	0.902;0.403;0.417	P;B;B	0.51866	0.682;0.12;0.213	D	0.88832	0.3306	10	0.72032	D	0.01	.	11.7113	0.51626	0.1323:0.0:0.0:0.8676	.	422;422;422	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	V	422	ENSP00000344173:D422V;ENSP00000409790:D422V;ENSP00000351142:D422V;ENSP00000385731:D422V	ENSP00000344173:D422V	D	-	2	0	GRM8	126197247	1.000000	0.71417	0.999000	0.59377	0.088000	0.18126	6.273000	0.72581	1.016000	0.39470	-0.336000	0.08194	GAT		0.413	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			18	60	0	0	0	0	18	60				
GRM8	2918	broad.mit.edu	37	7	126410053	126410053	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:126410053G>A	ENST00000339582.2	-	7	2031	c.1223C>T	c.(1222-1224)gCt>gTt	p.A408V	GRM8_ENST00000444921.2_Missense_Mutation_p.A408V|GRM8_ENST00000358373.3_Missense_Mutation_p.A408V|GRM8_ENST00000405249.1_Missense_Mutation_p.A408V|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	408					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGAATATACAGCATCAATTAC	0.423										HNSCC(24;0.065)																												uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1222-1224)GCT>GTT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						116.0	102.0	107.0					7																	126410053		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126410053G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1223C>T	7.37:g.126410053G>A	ENSP00000344173:p.Ala408Val	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.A408V|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.A129V	p.A408V	NM_000845	NP_000836	O00222	GRM8_HUMAN			6	1534	-		Prostate(267;0.186)	408			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1223C>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667386	0.67814	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	H	0.96460	3.825	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.85130	0.996;0.98;0.997	D	0.99091	1.0840	10	0.87932	D	0	.	19.2147	0.93772	0.0:0.0:1.0:0.0	.	408;408;408	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	V	408	ENSP00000344173:A408V;ENSP00000409790:A408V;ENSP00000351142:A408V;ENSP00000385731:A408V	ENSP00000344173:A408V	A	-	2	0	GRM8	126197289	1.000000	0.71417	0.953000	0.39169	0.006000	0.05464	9.864000	0.99589	2.769000	0.95229	0.655000	0.94253	GCT		0.423	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			13	37	0	0	0	0	13	37				
CCDC136	64753	broad.mit.edu	37	7	128446882	128446882	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:128446882G>A	ENST00000297788.4	+	9	1756	c.1389G>A	c.(1387-1389)acG>acA	p.T463T	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Silent_p.T410T|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	463						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TCAGGGATACGGTGGCCTCCT	0.552																																						uc003vnv.1		NA																	0				ovary(2)	2						c.(1387-1389)ACG>ACA		coiled-coil domain containing 136							29.0	30.0	30.0					7																	128446882		2034	4179	6213	SO:0001819	synonymous_variant	64753					integral to membrane	protein binding	g.chr7:128446882G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1389G>A	7.37:g.128446882G>A						CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Silent_p.T410T|CCDC136_uc003vnx.1_Silent_p.T279T|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_Silent_p.T73T	p.T463T	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			9	1756	+			463					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	37	c.1389G>A	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	G	4.093	0.015183	0.07959	.	.	ENSG00000128596	ENST00000494552	.	.	.	5.3	-1.05	0.10036	.	.	.	.	.	T	0.32496	0.0831	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31251	-0.9950	4	.	.	.	0.099	9.104	0.36687	0.0:0.3241:0.3876:0.2883	.	.	.	.	Q	340	.	.	R	+	2	0	CCDC136	128234118	0.162000	0.22906	0.000000	0.03702	0.010000	0.07245	-0.105000	0.10907	-0.606000	0.05746	0.561000	0.74099	CGG		0.552	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		9	17	0	0	0	0	9	17				
FLNC	2318	broad.mit.edu	37	7	128480173	128480173	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:128480173G>A	ENST00000325888.8	+	9	1769	c.1508G>A	c.(1507-1509)gGt>gAt	p.G503D	FLNC_ENST00000346177.6_Missense_Mutation_p.G503D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	503					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTTACCAAGGGTGCCGGCAGC	0.637																																						uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(1507-1509)GGT>GAT		gamma filamin isoform a							91.0	104.0	100.0					7																	128480173		2057	4190	6247	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128480173G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1508G>A	7.37:g.128480173G>A	ENSP00000327145:p.Gly503Asp					FLNC_uc003voa.3_Missense_Mutation_p.G503D	p.G503D	NM_001458	NP_001449	Q14315	FLNC_HUMAN			9	1717	+			503			Filamin 3.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1508G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570880	0.86542	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.81739	-1.53;-1.53	5.5	5.5	0.81552	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	L	0.27053	0.805	0.58432	D	0.999998	D;B	0.89917	1.0;0.044	D;B	0.97110	1.0;0.049	D	0.83921	0.0301	10	0.45353	T	0.12	.	15.9484	0.79813	0.0:0.1442:0.8558:0.0	.	503;503	Q14315-2;Q14315	.;FLNC_HUMAN	D	503	ENSP00000327145:G503D;ENSP00000344002:G503D	ENSP00000327145:G503D	G	+	2	0	FLNC	128267409	0.995000	0.38212	0.998000	0.56505	0.988000	0.76386	2.126000	0.42026	2.583000	0.87209	0.561000	0.74099	GGT		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			52	90	0	0	0	0	52	90				
IRF5	3663	broad.mit.edu	37	7	128582178	128582178	+	Missense_Mutation	SNP	G	G	A	rs142800920		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:128582178G>A	ENST00000402030.2	+	2	115	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	IRF5_ENST00000357234.5_Missense_Mutation_p.V15M|IRF5_ENST00000473745.1_Missense_Mutation_p.V15M|IRF5_ENST00000477535.1_Missense_Mutation_p.V15M|IRF5_ENST00000249375.4_Missense_Mutation_p.V15M	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	15					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						ACCCCGCCGCGTGCGGCTGAA	0.622																																						uc003vog.2		NA																	0					0						c.(43-45)GTG>ATG		interferon regulatory factor 5 isoform a		G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4404		0,0,2202	27.0	34.0	32.0		43,43,43,43,43	5.4	0.9	7	dbSNP_134	32	1,8587		0,1,4293	no	missense,missense,missense,missense,missense	IRF5	NM_001098627.2,NM_001098629.1,NM_001098630.1,NM_001242452.1,NM_032643.3	21,21,21,21,21	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	15/499,15/515,15/499,15/413,15/499	128582178	1,12991	2202	4294	6496	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128582178G>A		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.43G>A	7.37:g.128582178G>A	ENSP00000385352:p.Val15Met					IRF5_uc010llr.1_Missense_Mutation_p.V15M|IRF5_uc011kot.1_Missense_Mutation_p.V15M|IRF5_uc011kou.1_Missense_Mutation_p.V15M|IRF5_uc010lls.1_Missense_Mutation_p.V15M|IRF5_uc003voh.2_Missense_Mutation_p.V15M|IRF5_uc010llt.2_Missense_Mutation_p.V15M|IRF5_uc003voi.2_Missense_Mutation_p.V15M|IRF5_uc010llu.1_Missense_Mutation_p.V15M|IRF5_uc003vok.2_Missense_Mutation_p.V15M|IRF5_uc003voj.3_Missense_Mutation_p.V15M|IRF5_uc010llv.1_Missense_Mutation_p.V15M|IRF5_uc010llw.1_Missense_Mutation_p.V15M	p.V15M	NM_002200	NP_002191	Q13568	IRF5_HUMAN			2	164	+			15			IRF tryptophan pentad repeat.		A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.43G>A	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439262	0.43326	0.0	1.16E-4	ENSG00000128604	ENST00000489702;ENST00000357234;ENST00000477535;ENST00000430204;ENST00000479582;ENST00000464557;ENST00000402030;ENST00000249375;ENST00000453794;ENST00000467002;ENST00000473745;ENST00000412326	D;D;D;D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	5.42	5.42	0.78866	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.000000	0.50627	D	0.000103	D	0.97408	0.9152	L	0.28054	0.825	0.46078	D	0.998854	P;P;P;D;D;P;D;D	0.89917	0.941;0.941;0.927;0.974;0.989;0.941;1.0;0.998	P;P;P;P;P;P;D;P	0.72982	0.655;0.473;0.468;0.822;0.832;0.603;0.979;0.846	D	0.98156	1.0444	10	0.52906	T	0.07	-0.5204	16.702	0.85351	0.0:0.0:1.0:0.0	.	15;15;15;15;15;15;15;15	B4DLN8;B7Z1M2;F5H3H8;E7EW54;E9PC81;Q1A7B4;Q13568;Q13568-2	.;.;.;.;.;.;IRF5_HUMAN;.	M	15	ENSP00000418037:V15M;ENSP00000349770:V15M;ENSP00000419950:V15M;ENSP00000417770:V15M;ENSP00000419056:V15M;ENSP00000385352:V15M;ENSP00000249375:V15M;ENSP00000417454:V15M;ENSP00000419149:V15M	ENSP00000249375:V15M	V	+	1	0	IRF5	128369414	0.952000	0.32445	0.928000	0.36995	0.830000	0.47004	1.503000	0.35715	2.543000	0.85770	0.561000	0.74099	GTG		0.622	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		11	60	0	0	0	0	11	60				
PODXL	5420	broad.mit.edu	37	7	131190752	131190752	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:131190752C>T	ENST00000378555.3	-	8	1601	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	PODXL_ENST00000322985.9_Missense_Mutation_p.E420K|PODXL_ENST00000541194.1_Missense_Mutation_p.E454K|PODXL_ENST00000537928.1_Missense_Mutation_p.E420K			O00592	PODXL_HUMAN	podocalyxin-like	452					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TCGGCCTCCTCCGGTGGCCCC	0.647																																						uc003vqw.3		NA																	0				breast(2)|pancreas(1)	3						c.(1354-1356)GAG>AAG		podocalyxin-like isoform 1 precursor							43.0	38.0	39.0					7																	131190752		2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131190752C>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1354G>A	7.37:g.131190752C>T	ENSP00000367817:p.Glu452Lys					PODXL_uc003vqx.3_Missense_Mutation_p.E420K	p.E452K	NM_001018111	NP_001018121	O00592	PODXL_HUMAN			8	1612	-	Melanoma(18;0.162)		452			Extracellular (Potential).		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.1354G>A	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446845	0.84101	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.33	4.44	0.53790	.	0.077850	0.50627	D	0.000105	T	0.43033	0.1229	M	0.70595	2.14	0.19300	N	0.99998	D;D	0.57899	0.976;0.981	P;P	0.58077	0.741;0.832	T	0.29518	-1.0009	10	0.72032	D	0.01	-25.508	11.6904	0.51512	0.0:0.9168:0.0:0.0832	.	420;452	O00592-2;O00592	.;PODXL_HUMAN	K	454;420;410;452;420	ENSP00000440518:E454K;ENSP00000442655:E420K;ENSP00000367817:E452K;ENSP00000319782:E420K	ENSP00000319782:E420K	E	-	1	0	PODXL	130841292	0.002000	0.14202	0.062000	0.19696	0.718000	0.41266	0.573000	0.23699	2.487000	0.83934	0.561000	0.74099	GAG		0.647	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		4	24	0	0	0	0	4	24				
PODXL	5420	broad.mit.edu	37	7	131196154	131196154	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:131196154G>A	ENST00000378555.3	-	2	386	c.139C>T	c.(139-141)Ccg>Tcg	p.P47S	PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000322985.9_Missense_Mutation_p.P47S|PODXL_ENST00000541194.1_Missense_Mutation_p.P49S|PODXL_ENST00000537928.1_Missense_Mutation_p.P47S			O00592	PODXL_HUMAN	podocalyxin-like	47	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCTGGAGTCGGTGCTGTTTTG	0.527																																						uc003vqw.3		NA																	0				breast(2)|pancreas(1)	3						c.(139-141)CCG>TCG		podocalyxin-like isoform 1 precursor							199.0	192.0	194.0					7																	131196154		2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131196154G>A		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.139C>T	7.37:g.131196154G>A	ENSP00000367817:p.Pro47Ser					PODXL_uc003vqx.3_Missense_Mutation_p.P47S	p.P47S	NM_001018111	NP_001018121	O00592	PODXL_HUMAN			2	397	-	Melanoma(18;0.162)		47			Thr-rich.|Extracellular (Potential).		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.139C>T	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.230447	0.00280	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	0.987	-1.97	0.07503	.	.	.	.	.	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.26189	-1.0110	9	0.07175	T	0.84	1.3863	0.1024	0.00049	0.233:0.2013:0.2501:0.3156	.	47;47	O00592-2;O00592	.;PODXL_HUMAN	S	49;47;37;47;47	ENSP00000440518:P49S;ENSP00000442655:P47S;ENSP00000367817:P47S;ENSP00000319782:P47S	ENSP00000319782:P47S	P	-	1	0	PODXL	130846694	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.540000	0.02200	-1.699000	0.01416	-2.470000	0.00202	CCG		0.527	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		27	109	0	0	0	0	27	109				
PLXNA4	91584	broad.mit.edu	37	7	131866195	131866195	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:131866195G>T	ENST00000359827.3	-	18	4399	c.3437C>A	c.(3436-3438)gCc>gAc	p.A1146D	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1146D			Q9HCM2	PLXA4_HUMAN	plexin A4	1146	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGACCAAAGGCCTCAAACAC	0.582																																						uc003vra.3		NA																	0				ovary(1)	1						c.(3436-3438)GCC>GAC		plexin A4 isoform 1							175.0	183.0	180.0					7																	131866195		1945	4156	6101	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866195G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3437C>A	7.37:g.131866195G>T	ENSP00000352882:p.Ala1146Asp						p.A1146D	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			18	3666	-			1146			IPT/TIG 4.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3437C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682092	0.47991	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.58210	0.35;0.35	5.25	5.25	0.73442	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.215747	0.48286	D	0.000185	T	0.41811	0.1175	L	0.34521	1.04	0.37130	D	0.901216	B	0.29671	0.254	B	0.28784	0.094	T	0.48281	-0.9049	10	0.41790	T	0.15	.	12.6665	0.56846	0.0859:0.0:0.9141:0.0	.	1146	Q9HCM2	PLXA4_HUMAN	D	1146	ENSP00000323194:A1146D;ENSP00000352882:A1146D	ENSP00000323194:A1146D	A	-	2	0	PLXNA4	131516735	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.749000	0.55150	2.459000	0.83118	0.561000	0.74099	GCC		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		57	115	1	0	1.01e-23	1.05e-23	57	115				
LRGUK	136332	broad.mit.edu	37	7	133812343	133812343	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:133812343G>A	ENST00000285928.2	+	1	292	c.223G>A	c.(223-225)Gac>Aac	p.D75N	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	75						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GCTGGACTCGGACGGAGATGA	0.597																																						uc003vrm.1		NA																	0				lung(2)|skin(2)|kidney(1)	5						c.(223-225)GAC>AAC		leucine-rich repeats and guanylate kinase domain							80.0	77.0	78.0					7																	133812343		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133812343G>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.223G>A	7.37:g.133812343G>A	ENSP00000285928:p.Asp75Asn						p.D75N	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			1	239	+			75					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.223G>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710740	0.30322	.	.	ENSG00000155530	ENST00000285928	T	0.37235	1.21	3.72	3.72	0.42706	.	0.734163	0.12141	N	0.495845	T	0.31827	0.0809	L	0.44542	1.39	0.09310	N	1	P	0.40970	0.734	B	0.39617	0.305	T	0.10894	-1.0610	10	0.39692	T	0.17	-5.6136	11.3083	0.49349	0.0:0.0:1.0:0.0	.	75	Q96M69	LRGUK_HUMAN	N	75	ENSP00000285928:D75N	ENSP00000285928:D75N	D	+	1	0	LRGUK	133462883	0.155000	0.22806	0.030000	0.17652	0.079000	0.17450	2.362000	0.44169	2.376000	0.81061	0.655000	0.94253	GAC		0.597	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		9	56	0	0	0	0	9	56				
CNOT4	4850	broad.mit.edu	37	7	135123021	135123021	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:135123021G>A	ENST00000315544.5	-	2	338	c.59C>T	c.(58-60)cCc>cTc	p.P20L	CNOT4_ENST00000414802.1_Missense_Mutation_p.P20L|CNOT4_ENST00000423368.2_Missense_Mutation_p.P20L|CNOT4_ENST00000356162.4_Missense_Mutation_p.P20L|CNOT4_ENST00000451834.1_Missense_Mutation_p.P20L|CNOT4_ENST00000361528.4_Missense_Mutation_p.P20L|CNOT4_ENST00000428680.2_Missense_Mutation_p.P20L|CNOT4_ENST00000541284.1_Missense_Mutation_p.P20L	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	20					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TATCTCCAAGGGCTCCATGCA	0.433																																					Ovarian(51;766 1130 5502 35047 50875)	uc003vsv.1		NA																	0					0						c.(58-60)CCC>CTC		CCR4-NOT transcription complex, subunit 4							79.0	76.0	77.0					7																	135123021		1924	4130	6054	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135123021G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.59C>T	7.37:g.135123021G>A	ENSP00000326731:p.Pro20Leu					CNOT4_uc003vss.2_Missense_Mutation_p.P20L|CNOT4_uc011kpz.1_Missense_Mutation_p.P20L|CNOT4_uc003vst.2_Missense_Mutation_p.P20L|CNOT4_uc003vsu.1_Missense_Mutation_p.P20L|CNOT4_uc011kpy.1_Missense_Mutation_p.P20L	p.P20L	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			2	366	-			20			RING-type; degenerate.		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.59C>T	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475679	0.84640	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.91915	0.7440	M	0.66439	2.03	0.80722	D	1	B;B;B;B;D;D	0.76494	0.264;0.383;0.371;0.323;0.999;0.995	B;B;B;B;D;D	0.78314	0.168;0.259;0.178;0.264;0.991;0.918	D	0.90691	0.4613	10	0.46703	T	0.11	-10.3811	20.2181	0.98305	0.0:0.0:1.0:0.0	.	20;20;20;20;20;20	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	L	20	ENSP00000445508:P20L;ENSP00000388491:P20L;ENSP00000406777:P20L;ENSP00000354673:P20L;ENSP00000416532:P20L;ENSP00000348485:P20L;ENSP00000399108:P20L;ENSP00000326731:P20L	ENSP00000262563:P20L	P	-	2	0	CNOT4	134773561	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.837000	0.99465	2.785000	0.95823	0.655000	0.94253	CCC		0.433	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		16	33	0	0	0	0	16	33				
NUP205	23165	broad.mit.edu	37	7	135292093	135292093	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:135292093C>T	ENST00000285968.6	+	22	3195	c.3169C>T	c.(3169-3171)Cct>Tct	p.P1057S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1057					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCGAGAATCTCCTCAGCTGGC	0.502																																						uc003vsw.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(3169-3171)CCT>TCT		nucleoporin 205kDa							84.0	80.0	81.0					7																	135292093		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135292093C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3169C>T	7.37:g.135292093C>T	ENSP00000285968:p.Pro1057Ser						p.P1057S	NM_015135	NP_055950	Q92621	NU205_HUMAN			22	3200	+			1057					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.3169C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539241	0.85917	.	.	ENSG00000155561	ENST00000285968	T	0.30714	1.52	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.43718	-0.9374	10	0.41790	T	0.15	-0.1711	18.9876	0.92779	0.0:1.0:0.0:0.0	.	1057	Q92621	NU205_HUMAN	S	1057	ENSP00000285968:P1057S	ENSP00000285968:P1057S	P	+	1	0	NUP205	134942633	1.000000	0.71417	0.981000	0.43875	0.986000	0.74619	6.053000	0.71089	2.550000	0.86006	0.561000	0.74099	CCT		0.502	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			10	44	0	0	0	0	10	44				
DGKI	9162	broad.mit.edu	37	7	137154314	137154314	+	Missense_Mutation	SNP	G	G	C	rs150062419		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:137154314G>C	ENST00000288490.5	-	25	2479	c.2479C>G	c.(2479-2481)Cgg>Ggg	p.R827G	DGKI_ENST00000453654.2_Missense_Mutation_p.R527G|DGKI_ENST00000446122.1_Missense_Mutation_p.R809G|DGKI_ENST00000424189.2_Missense_Mutation_p.R830G	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	827					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AAGCACCACCGAGGAGAGAGC	0.522																																						uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2479-2481)CGG>GGG		diacylglycerol kinase, iota							129.0	115.0	120.0					7																	137154314		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137154314G>C	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2479C>G	7.37:g.137154314G>C	ENSP00000288490:p.Arg827Gly					DGKI_uc003vtu.2_Missense_Mutation_p.R527G	p.R827G	NM_004717	NP_004708	O75912	DGKI_HUMAN			25	2480	-			827					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2479C>G	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274266	0.40194	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.34667	1.93;1.35;1.49	5.65	3.63	0.41609	.	0.178175	0.48286	D	0.000192	T	0.31263	0.0791	L	0.47716	1.5	0.37897	D	0.930921	B;P	0.35481	0.151;0.504	B;B	0.30943	0.074;0.122	T	0.36939	-0.9727	10	0.46703	T	0.11	.	15.1913	0.73047	0.0:0.0:0.6829:0.3171	.	527;827	E9PFX6;O75912	.;DGKI_HUMAN	G	527;775;830;827;809	ENSP00000392161:R527G;ENSP00000288490:R827G;ENSP00000399131:R809G	ENSP00000288490:R827G	R	-	1	2	DGKI	136804854	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.750000	0.55157	1.369000	0.46134	0.655000	0.94253	CGG		0.522	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		26	56	0	0	0	0	26	56				
TRPV6	55503	broad.mit.edu	37	7	142570156	142570156	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142570156C>T	ENST00000359396.3	-	14	2109	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	622					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGCCATACTCCCGTCCGCAG	0.627																																						uc003wbx.1		NA																	0				ovary(2)	2						c.(1864-1866)GAG>AAG		transient receptor potential cation channel,							60.0	56.0	57.0					7																	142570156		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142570156C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1864G>A	7.37:g.142570156C>T	ENSP00000352358:p.Glu622Lys					TRPV6_uc003wbw.1_Missense_Mutation_p.E408K|TRPV6_uc010lou.1_Missense_Mutation_p.E493K	p.E622K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			14	2080	-	Melanoma(164;0.059)		622			Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1864G>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	9.146	1.015117	0.19355	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.77358	-1.09	5.2	3.29	0.37713	.	0.653212	0.16298	N	0.220585	T	0.54431	0.1858	N	0.12637	0.245	0.31488	N	0.666289	B	0.02656	0.0	B	0.06405	0.002	T	0.48433	-0.9036	10	0.09084	T	0.74	-10.2142	6.915	0.24355	0.0:0.6961:0.0:0.3039	.	622	Q9H1D0	TRPV6_HUMAN	K	622;454	ENSP00000352358:E622K	ENSP00000310825:E454K	E	-	1	0	TRPV6	142280278	0.005000	0.15991	0.215000	0.23724	0.845000	0.48019	0.951000	0.29135	0.676000	0.31285	0.655000	0.94253	GAG		0.627	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		7	29	0	0	0	0	7	29				
TRPV6	55503	broad.mit.edu	37	7	142574508	142574508	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142574508C>T	ENST00000359396.3	-	5	815	c.570G>A	c.(568-570)cgG>cgA	p.R190R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	190					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGTCCTGGGCCCGGATGTCAG	0.607																																						uc003wbx.1		NA																	0				ovary(2)	2						c.(568-570)CGG>CGA		transient receptor potential cation channel,							96.0	86.0	89.0					7																	142574508		2203	4300	6503	SO:0001819	synonymous_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142574508C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.570G>A	7.37:g.142574508C>T						TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Silent_p.R61R	p.R190R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			5	786	-	Melanoma(164;0.059)		190			ANK 4.|Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	c.570G>A	CCDS5874.1																																																																																				0.607	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		22	58	0	0	0	0	22	58				
OR6V1	346517	broad.mit.edu	37	7	142749631	142749631	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142749631C>T	ENST00000418316.1	+	1	215	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GGCAATTTTTCCCTGCTGGAG	0.493																																						uc011ksv.1		NA																	0				ovary(1)	1						c.(193-195)TCC>TTC		olfactory receptor, family 6, subfamily V,							254.0	247.0	250.0					7																	142749631		2021	4183	6204	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749631C>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.194C>T	7.37:g.142749631C>T	ENSP00000396085:p.Ser65Phe						p.S65F	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	194	+	Melanoma(164;0.059)		65			Helical; Name=2; (Potential).		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.194C>T	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838634	0.51057	.	.	ENSG00000225781	ENST00000418316	T	0.15139	2.45	4.25	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.49762	0.1576	M	0.93106	3.38	0.09310	N	1	D	0.76494	0.999	D	0.65987	0.94	T	0.50145	-0.8862	9	0.87932	D	0	.	14.1867	0.65609	0.0:1.0:0.0:0.0	.	65	Q8N148	OR6V1_HUMAN	F	65	ENSP00000396085:S65F	ENSP00000396085:S65F	S	+	2	0	OR6V1	142459753	0.000000	0.05858	0.012000	0.15200	0.980000	0.70556	0.912000	0.28597	2.187000	0.69744	0.561000	0.74099	TCC		0.493	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			105	176	0	0	0	0	105	176				
FAM131B	9715	broad.mit.edu	37	7	143053832	143053832	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143053832C>T	ENST00000409408.1	-	6	2518	c.810G>A	c.(808-810)agG>agA	p.R270R	FAM131B_ENST00000409578.1_Silent_p.R286R|FAM131B_ENST00000409222.3_Silent_p.R270R|FAM131B_ENST00000409346.1_Silent_p.R270R|FAM131B_ENST00000443739.2_Silent_p.R298R			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	270										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CAGCAGGGCCCCTTGCCAGGT	0.627																																						uc003wct.2		NA																	0					0						c.(808-810)AGG>AGA		hypothetical protein LOC9715 isoform b							103.0	115.0	111.0					7																	143053832		2203	4300	6503	SO:0001819	synonymous_variant	9715							g.chr7:143053832C>T	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.810G>A	7.37:g.143053832C>T						FAM131B_uc010loz.2_Silent_p.R238R|FAM131B_uc003wcu.3_Silent_p.R270R|FAM131B_uc010lpa.2_Silent_p.R298R	p.R270R	NM_014690	NP_055505	Q86XD5	F131B_HUMAN			6	2516	-	Melanoma(164;0.205)		270					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Silent	SNP	ENST00000409408.1	37	c.810G>A	CCDS5882.1																																																																																				0.627	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		30	144	0	0	0	0	30	144				
ZYX	7791	broad.mit.edu	37	7	143085984	143085984	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143085984C>T	ENST00000322764.5	+	8	1784	c.1439C>T	c.(1438-1440)aCc>aTc	p.T480I	EPHA1_ENST00000458129.1_5'Flank|ZYX_ENST00000392910.2_Missense_Mutation_p.T323I|ZYX_ENST00000449423.2_Missense_Mutation_p.T393I	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	480	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CTGGAGGGCACCTCCTTCATC	0.667																																						uc003wcw.2		NA																	0					0						c.(1438-1440)ACC>ATC		zyxin							69.0	69.0	69.0					7																	143085984		2203	4300	6503	SO:0001583	missense	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143085984C>T	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1439C>T	7.37:g.143085984C>T	ENSP00000324422:p.Thr480Ile					ZYX_uc011ktd.1_Missense_Mutation_p.T323I|ZYX_uc003wcx.2_Missense_Mutation_p.T480I|ZYX_uc011kte.1_Missense_Mutation_p.T449I|ZYX_uc011ktf.1_Missense_Mutation_p.T323I	p.T480I	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN			8	1594	+	Melanoma(164;0.205)		480			LIM zinc-binding 2.		A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	c.1439C>T	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537871	0.27475	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910;ENST00000446634	D;D;D;D;T	0.87809	-2.3;-2.3;-2.3;-2.3;0.49	5.03	4.08	0.47627	Zinc finger, LIM-type (4);	0.087472	0.49305	D	0.000158	D	0.85008	0.5599	L	0.33339	1.005	0.34477	D	0.703458	D;D	0.71674	0.998;0.998	D;D	0.69142	0.96;0.962	T	0.81521	-0.0895	10	0.02654	T	1	.	8.1729	0.31264	0.1577:0.7625:0.0:0.0798	.	393;480	B4DQR8;Q15942	.;ZYX_HUMAN	I	480;448;393;323;170	ENSP00000324422:T480I;ENSP00000346417:T448I;ENSP00000394158:T393I;ENSP00000376642:T323I;ENSP00000403714:T170I	ENSP00000324422:T480I	T	+	2	0	ZYX	142796106	0.995000	0.38212	1.000000	0.80357	0.953000	0.61014	3.135000	0.50546	2.485000	0.83878	0.484000	0.47621	ACC		0.667	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		13	86	0	0	0	0	13	86				
TAS2R60	338398	broad.mit.edu	37	7	143140716	143140716	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143140716G>A	ENST00000332690.1	+	1	171	c.171G>A	c.(169-171)aaG>aaA	p.K57K	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	57					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTTGTGATAAGTTATTGGTTA	0.498																																						uc011ktg.1		NA																	0				skin(6)	6						c.(169-171)AAG>AAA		taste receptor, type 2, member 60							242.0	221.0	228.0					7																	143140716		2203	4300	6503	SO:0001819	synonymous_variant	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140716G>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.171G>A	7.37:g.143140716G>A						uc003wda.2_Intron	p.K57K	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	171	+	Melanoma(164;0.172)		57			Helical; Name=2; (Potential).		A4D2G8|Q645W8|Q7RTR7	Silent	SNP	ENST00000332690.1	37	c.171G>A	CCDS5885.1																																																																																				0.498	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			35	69	0	0	0	0	35	69				
TAS2R60	338398	broad.mit.edu	37	7	143141134	143141134	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143141134C>T	ENST00000332690.1	+	1	589	c.589C>T	c.(589-591)Cta>Tta	p.L197L	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	197					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTCTTCCCTCTAAAAATGAT	0.418																																						uc011ktg.1		NA																	0				skin(6)	6						c.(589-591)CTA>TTA		taste receptor, type 2, member 60							161.0	157.0	158.0					7																	143141134		2203	4300	6503	SO:0001819	synonymous_variant	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141134C>T	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.589C>T	7.37:g.143141134C>T						uc003wda.2_Intron	p.L197L	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	589	+	Melanoma(164;0.172)		197			Helical; Name=5; (Potential).		A4D2G8|Q645W8|Q7RTR7	Silent	SNP	ENST00000332690.1	37	c.589C>T	CCDS5885.1																																																																																				0.418	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			62	155	0	0	0	0	62	155				
FAM115A	9747	broad.mit.edu	37	7	143573412	143573412	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143573412G>A	ENST00000479870.1	-	2	498	c.290C>T	c.(289-291)tCc>tTc	p.S97F	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Missense_Mutation_p.S97F	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	97										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AGGTGCCAGGGATGGGTGTAC	0.562																																						uc003wdo.1		NA																	0					0						c.(289-291)TCC>TTC		hypothetical protein LOC9747							52.0	54.0	54.0					7																	143573412		2203	4300	6503	SO:0001583	missense	9747							g.chr7:143573412G>A	AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.290C>T	7.37:g.143573412G>A	ENSP00000419235:p.Ser97Phe					FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.S97F	p.S97F	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN			2	423	-	Melanoma(164;0.0903)		97					A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Missense_Mutation	SNP	ENST00000479870.1	37	c.290C>T	CCDS5886.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493263	0.64186	.	.	ENSG00000198420	ENST00000479870;ENST00000355951;ENST00000460532;ENST00000491908;ENST00000478172	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	4.1	4.1	0.47936	.	0.733633	0.13579	N	0.377475	T	0.70587	0.3241	M	0.81239	2.535	0.42695	D	0.993599	D	0.65815	0.995	D	0.66847	0.947	T	0.72204	-0.4361	10	0.72032	D	0.01	-20.7146	10.1967	0.43058	0.0:0.2021:0.7979:0.0	.	97	Q9Y4C2	F115A_HUMAN	F	97	ENSP00000419235:S97F;ENSP00000348220:S97F;ENSP00000420607:S97F;ENSP00000417600:S97F;ENSP00000419622:S97F	ENSP00000348220:S97F	S	-	2	0	FAM115A	143204345	0.042000	0.20092	0.998000	0.56505	0.992000	0.81027	1.811000	0.38942	2.583000	0.87209	0.585000	0.79938	TCC		0.562	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719		19	77	0	0	0	0	19	77				
CNTNAP2	26047	broad.mit.edu	37	7	146825806	146825806	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:146825806T>A	ENST00000361727.3	+	7	1477	c.961T>A	c.(961-963)Ttc>Atc	p.F321I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	321	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			AGGCATCCCTTTCTCTGGCAA	0.393										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(961-963)TTC>ATC		cell recognition molecule Caspr2 precursor							90.0	92.0	91.0					7																	146825806		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.chr7:146825806T>A	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.961T>A	7.37:g.146825806T>A	ENSP00000354778:p.Phe321Ile	HNSCC(39;0.1)					p.F321I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		7	1477	+	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)	321			Laminin G-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.961T>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613073	0.28712	.	.	ENSG00000174469	ENST00000361727	T	0.77098	-1.07	5.84	5.84	0.93424	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.088381	0.47852	D	0.000216	T	0.68952	0.3057	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63440	-0.6637	10	0.32370	T	0.25	.	15.0509	0.71867	0.0:0.0:0.0:1.0	.	321	Q9UHC6	CNTP2_HUMAN	I	321	ENSP00000354778:F321I	ENSP00000354778:F321I	F	+	1	0	CNTNAP2	146456739	0.993000	0.37304	1.000000	0.80357	0.346000	0.29079	2.597000	0.46214	2.243000	0.73865	0.533000	0.62120	TTC		0.393	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			18	108	0	0	0	0	18	108				
CNTNAP2	26047	broad.mit.edu	37	7	148112610	148112610	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:148112610G>A	ENST00000361727.3	+	24	4414	c.3898G>A	c.(3898-3900)Ggg>Agg	p.G1300R	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.G359R	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1300					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)			CGAAGCAAAGGGGGCGGAGTC	0.542										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3898-3900)GGG>AGG		cell recognition molecule Caspr2 precursor							96.0	84.0	88.0					7																	148112610		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.chr7:148112610G>A	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.3898G>A	7.37:g.148112610G>A	ENSP00000354778:p.Gly1300Arg	HNSCC(39;0.1)				CNTNAP2_uc003wev.1_Missense_Mutation_p.G77R	p.G1300R	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		24	4414	+	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)	1300			Cytoplasmic (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3898G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146781	0.57151	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;T	0.89810	-2.57;2.64	5.42	5.42	0.78866	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.89718	0.3917	10	0.14656	T	0.56	.	17.8137	0.88624	0.0:0.0:1.0:0.0	.	1300	Q9UHC6	CNTP2_HUMAN	R	1300;359	ENSP00000354778:G1300R;ENSP00000440732:G359R	ENSP00000354778:G1300R	G	+	1	0	CNTNAP2	147743543	1.000000	0.71417	0.982000	0.44146	0.266000	0.26442	9.697000	0.98697	2.534000	0.85438	0.655000	0.94253	GGG		0.542	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			13	73	0	0	0	0	13	73				
ZNF282	8427	broad.mit.edu	37	7	148909480	148909480	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:148909480C>T	ENST00000262085.3	+	6	1088	c.983C>T	c.(982-984)tCc>tTc	p.S328F	ZNF282_ENST00000479907.1_Missense_Mutation_p.S328F	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	328					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GACCTCTTGTCCCGGATTAAA	0.498																																						uc003wfm.2		NA																	0					0						c.(982-984)TCC>TTC		zinc finger protein 282							70.0	62.0	65.0					7																	148909480		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148909480C>T	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.983C>T	7.37:g.148909480C>T	ENSP00000262085:p.Ser328Phe					ZNF282_uc011kun.1_Missense_Mutation_p.S328F|ZNF282_uc003wfn.2_Missense_Mutation_p.S268F|ZNF282_uc003wfo.2_Intron	p.S328F	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	6	1088	+	Melanoma(164;0.15)		328					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.983C>T	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103060	0.56183	.	.	ENSG00000170265	ENST00000262085;ENST00000479907	T;T	0.10860	2.83;4.68	5.38	5.38	0.77491	.	0.000000	0.51477	D	0.000084	T	0.25382	0.0617	M	0.68317	2.08	0.42288	D	0.99212	P;D;D	0.59357	0.936;0.985;0.985	P;P;P	0.56434	0.674;0.798;0.798	T	0.00395	-1.1766	10	0.41790	T	0.15	-26.4824	14.6551	0.68828	0.0:1.0:0.0:0.0	.	328;300;328	B4DRI5;Q7Z2V4;Q9UDV7	.;.;ZN282_HUMAN	F	328	ENSP00000262085:S328F;ENSP00000418840:S328F	ENSP00000262085:S328F	S	+	2	0	ZNF282	148540413	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.259000	0.58828	2.529000	0.85273	0.655000	0.94253	TCC		0.498	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		10	26	0	0	0	0	10	26				
SSPO	23145	broad.mit.edu	37	7	149477972	149477972	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:149477972C>T	ENST00000378016.2	+	0	1743							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGCTACTCCTTCTGGGGTG	0.677																																						uc010lpk.2		NA																	0					0						c.(1741-1743)TCC>TCT		SCO-spondin precursor							50.0	59.0	56.0					7																	149477972		2141	4242	6383			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149477972C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477972C>T						SSPO_uc010lpl.1_Intron	p.S581S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		13	1743	+	Melanoma(164;0.165)|Ovarian(565;0.177)		581			VWFD 2.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.1743C>T																																																																																					0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	39	0	0	0	0	6	39				
SSPO	23145	broad.mit.edu	37	7	149494381	149494381	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:149494381C>T	ENST00000378016.2	+	0	6852							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCAAGACCCTGGCCCTCT	0.662																																						uc010lpk.2		NA																	0					0						c.(6850-6852)ACC>ACT		SCO-spondin precursor							62.0	71.0	68.0					7																	149494381		1967	4146	6113			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149494381C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149494381C>T							p.T2284T	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		47	6852	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2284					Q76B61	Silent	SNP	ENST00000378016.2	37	c.6852C>T																																																																																					0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	52	0	0	0	0	6	52				
ACTR3C	653857	broad.mit.edu	37	7	149986643	149986643	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:149986643G>A	ENST00000539352.1	-	4	444	c.193C>T	c.(193-195)Ccg>Tcg	p.P65S	ACTR3C_ENST00000252071.4_Missense_Mutation_p.P65S	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	65						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)										CCTGCAATCGGGATGTGTTTG	0.498																																						uc003wgu.1		NA																	0					0						c.(193-195)CCG>TCG		actin-related protein 3-beta isoform 2							29.0	29.0	29.0					7																	149986643		692	1578	2270	SO:0001583	missense	653857				regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding	g.chr7:149986643G>A		CCDS47744.1	7q36.1	2009-09-23			ENSG00000106526	ENSG00000106526			37282	protein-coding gene	gene with protein product						11162478, 14651955	Standard	NM_001164458		Approved	ARP11	uc022aps.1	Q9C0K3	OTTHUMG00000158323	ENST00000539352.1:c.193C>T	7.37:g.149986643G>A	ENSP00000440990:p.Pro65Ser						p.P65S	NM_001040135	NP_001035225	Q9C0K3	ARP3C_HUMAN			4	383	-			65					Q5CZI4	Missense_Mutation	SNP	ENST00000539352.1	37	c.193C>T	CCDS47744.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483689	0.63962	.	.	ENSG00000106526	ENST00000478393;ENST00000252071;ENST00000539352;ENST00000477871	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	2.02	2.02	0.26589	.	0.072113	0.56097	D	0.000037	T	0.35508	0.0934	H	0.95365	3.66	0.36653	D	0.877523	D	0.71674	0.998	D	0.72625	0.978	T	0.57039	-0.7879	9	.	.	.	-3.0061	10.1221	0.42627	0.0:0.0:1.0:0.0	.	65	Q9C0K3	ARP3C_HUMAN	S	63;65;65;164	ENSP00000417426:P63S;ENSP00000252071:P65S;ENSP00000440990:P65S;ENSP00000418635:P164S	.	P	-	1	0	ACTR3C	149617576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.852000	0.92215	1.434000	0.47414	0.393000	0.25936	CCG		0.498	ACTR3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350676.2			7	27	0	0	0	0	7	27				
GIMAP1	170575	broad.mit.edu	37	7	150417539	150417539	+	Silent	SNP	C	C	T	rs150494282	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150417539C>T	ENST00000307194.5	+	3	587	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	149	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGATGGTCATCGTCTTCACCA	0.642																																						uc003whq.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(445-447)ATC>ATT		GTPase, IMAP family member 1		C	,	0,4406		0,0,2203	65.0	64.0	64.0		,447	-6.3	0.0	7	dbSNP_134	64	7,8593	5.7+/-21.5	0,7,4293	no	intron,coding-synonymous	GIMAP1,GIMAP1-GIMAP5	NM_001199577.1,NM_130759.3	,	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	,	,149/307	150417539	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150417539C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.447C>T	7.37:g.150417539C>T						GIMAP1_uc003whp.2_Silent_p.I157I	p.I149I	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	534	+			149			Cytoplasmic (Potential).		B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.447C>T	CCDS5906.1																																																																																				0.642	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		8	70	0	0	0	0	8	70				
AOC1	26	broad.mit.edu	37	7	150554746	150554746	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150554746C>T	ENST00000493429.1	+	4	1772	c.1188C>T	c.(1186-1188)acC>acT	p.T396T	AOC1_ENST00000416793.2_Silent_p.T396T|AOC1_ENST00000360937.4_Silent_p.T396T|AOC1_ENST00000467291.1_Silent_p.T396T			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	396					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	AGACCGCCACCTTCCTGGACA	0.627																																						uc003why.1		NA																	0				ovary(2)|breast(2)|skin(2)	6						c.(1186-1188)ACC>ACT		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						59.0	69.0	65.0					7																	150554746		2164	4259	6423	SO:0001819	synonymous_variant	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150554746C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1188C>T	7.37:g.150554746C>T						ABP1_uc003whz.1_Silent_p.T396T|ABP1_uc003wia.1_Silent_p.T396T	p.T396T	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	5406	+	all_neural(206;0.219)		396					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.1188C>T	CCDS43679.1																																																																																				0.627	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		16	97	0	0	0	0	16	97				
KCNH2	3757	broad.mit.edu	37	7	150654554	150654554	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150654554G>A	ENST00000262186.5	-	5	1354	c.953C>T	c.(952-954)tCc>tTc	p.S318F	KCNH2_ENST00000392968.2_Missense_Mutation_p.S222F|KCNH2_ENST00000430723.3_Missense_Mutation_p.S318F|KCNH2_ENST00000330883.4_5'Flank	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	318					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GTCCGAGGTGGAGTTGAGCAA	0.642																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.2		NA																	0				skin(3)|ovary(1)	4						c.(952-954)TCC>TTC		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						101.0	90.0	94.0					7																	150654554		2202	4300	6502	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150654554G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.953C>T	7.37:g.150654554G>A	ENSP00000262186:p.Ser318Phe					KCNH2_uc003wib.2_5'Flank|KCNH2_uc011kux.1_Missense_Mutation_p.S222F|KCNH2_uc003wid.2_5'Flank|KCNH2_uc003wie.2_Missense_Mutation_p.S318F	p.S318F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	966	-	all_neural(206;0.219)		318			Cytoplasmic (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.953C>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987959	0.93106	.	.	ENSG00000055118	ENST00000392968;ENST00000262186;ENST00000430723	D;D;D	0.99051	-5.37;-5.37;-5.37	4.83	4.83	0.62350	.	0.103359	0.40302	N	0.001125	D	0.98814	0.9600	L	0.49126	1.545	0.53688	D	0.999979	D;D;D	0.69078	0.994;0.995;0.997	P;P;D	0.66847	0.855;0.89;0.947	D	0.99831	1.1054	10	0.87932	D	0	.	15.7766	0.78224	0.0:0.0:1.0:0.0	.	222;318;318	C4PFH9;G5E9I0;Q12809	.;.;KCNH2_HUMAN	F	222;318;318	ENSP00000376695:S222F;ENSP00000262186:S318F;ENSP00000387657:S318F	ENSP00000262186:S318F	S	-	2	0	KCNH2	150285487	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.744000	0.85034	2.383000	0.81215	0.561000	0.74099	TCC		0.642	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		7	33	0	0	0	0	7	33				
FASTK	10922	broad.mit.edu	37	7	150774982	150774982	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150774982G>A	ENST00000297532.6	-	5	1100	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000353841.2_Silent_p.F200F|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000482571.1_Silent_p.F314F|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	341					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		TGTAGTTGATGAAGCCAGGGG	0.622																																						uc003wix.1		NA																	0				lung(2)|stomach(2)	4						c.(1021-1023)TTC>TTT		Fas-activated serine/threonine kinase isoform 1							60.0	62.0	61.0					7																	150774982		2203	4300	6503	SO:0001819	synonymous_variant	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150774982G>A		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.1023C>T	7.37:g.150774982G>A						uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Silent_p.F102F|FASTK_uc003wiy.1_Silent_p.F200F|FASTK_uc003wiz.1_Silent_p.F314F|FASTK_uc003wja.1_3'UTR	p.F341F	NM_006712	NP_006703	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	5	1121	-			341					A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	37	c.1023C>T	CCDS5918.1																																																																																				0.622	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		8	55	0	0	0	0	8	55				
CHPF2	54480	broad.mit.edu	37	7	150934782	150934783	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150934782_150934783CC>TT	ENST00000035307.2	+	4	2847_2848	c.1334_1335CC>TT	c.(1333-1335)aCC>aTT	p.T445I	CHPF2_ENST00000495645.1_Missense_Mutation_p.T437I|MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	445					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ATGGAGTACACCCTGGACCTGC	0.658																																						uc003wjr.1		NA																	0				ovary(1)	1						c.(1333-1335)ACC>ATT		chondroitin polymerizing factor 2																																				SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150934782_150934783CC>TT	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	Exception_encountered	7.37:g.150934782_150934783delinsTT	ENSP00000035307:p.Thr445Ile					CHPF2_uc003wjq.1_Missense_Mutation_p.T437I|MIR671_hsa-mir-671|MI0003760_5'Flank	p.T445I	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN			4	2847_2848	+			445			Lumenal (Potential).		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	DNP	ENST00000035307.2	37	c.1334_1335CC>TT	CCDS34779.1																																																																																				0.658	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		12	62	0	0	0	0	12	62				
WDR86	349136	broad.mit.edu	37	7	151093194	151093194	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:151093194C>T	ENST00000334493.6	-	3	824	c.394G>A	c.(394-396)Gag>Aag	p.E132K	WDR86_ENST00000463000.1_5'Flank|WDR86_ENST00000469830.2_Missense_Mutation_p.E132K|WDR86_ENST00000477459.1_Missense_Mutation_p.E4K	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	132										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCGGAACTCCCGGGACATC	0.677																																						uc003wkb.2		NA																	0					0						c.(394-396)GAG>AAG		WD repeat domain 86							24.0	28.0	27.0					7																	151093194		2188	4287	6475	SO:0001583	missense	349136							g.chr7:151093194C>T	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.394G>A	7.37:g.151093194C>T	ENSP00000335522:p.Glu132Lys					WDR86_uc003wka.2_Missense_Mutation_p.E90K|WDR86_uc011kvk.1_Missense_Mutation_p.E132K|WDR86_uc003wkc.2_Missense_Mutation_p.E4K	p.E132K	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	843	-			132			WD 3.		B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	c.394G>A	CCDS5925.2	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644055	0.47258	.	.	ENSG00000187260	ENST00000334493;ENST00000477459;ENST00000469830	T;T;T	0.59906	0.23;0.23;0.23	4.86	3.99	0.46301	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.56097	D	0.000035	T	0.60495	0.2273	N	0.25286	0.73	0.34178	D	0.670591	D;P;P;D	0.76494	0.999;0.896;0.947;0.984	D;P;P;P	0.81914	0.995;0.526;0.796;0.815	T	0.67715	-0.5599	9	.	.	.	-47.8843	12.158	0.54087	0.0:0.917:0.0:0.083	.	132;4;132;90	B4DJF1;C9JAJ5;Q86TI4;D3DX12	.;.;WDR86_HUMAN;.	K	132;4;132	ENSP00000335522:E132K;ENSP00000417512:E4K;ENSP00000419162:E132K	.	E	-	1	0	WDR86	150724127	1.000000	0.71417	0.947000	0.38551	0.019000	0.09904	3.904000	0.56325	1.056000	0.40484	0.313000	0.20887	GAG		0.677	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		8	35	0	0	0	0	8	35				
KMT2C	58508	broad.mit.edu	37	7	151874263	151874263	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:151874263A>C	ENST00000262189.6	-	38	8493	c.8275T>G	c.(8275-8277)Tat>Gat	p.Y2759D	KMT2C_ENST00000355193.2_Missense_Mutation_p.Y2759D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2759	Asp-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGATCTGTATATGCAATGATA	0.368																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(8275-8277)TAT>GAT		myeloid/lymphoid or mixed-lineage leukemia 3							118.0	117.0	117.0					7																	151874263		2203	4299	6502	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151874263A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8275T>G	7.37:g.151874263A>C	ENSP00000262189:p.Tyr2759Asp					MLL3_uc003wkz.2_Missense_Mutation_p.Y1820D|MLL3_uc003wky.2_Missense_Mutation_p.Y268D	p.Y2759D	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	38	8494	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2759			Asp-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.8275T>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.19|15.19	2.758894|2.758894	0.49468|0.49468	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.95690	.|-3.78;-3.72	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.42294	.|D	.|0.000728	D|D	0.97536|0.97536	0.9193|0.9193	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.998;0.999	D|D	0.98323|0.98323	1.0529|1.0529	5|10	.|0.87932	.|D	.|0	.|.	15.6736|15.6736	0.77297|0.77297	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2759;1820;2759	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	R|D	264|2759	.|ENSP00000262189:Y2759D;ENSP00000347325:Y2759D	.|ENSP00000262189:Y2759D	I|Y	-|-	2|1	0|0	MLL3|MLL3	151505196|151505196	1.000000|1.000000	0.71417|0.71417	0.757000|0.757000	0.31301|0.31301	0.928000|0.928000	0.56348|0.56348	9.339000|9.339000	0.96797|0.96797	2.096000|2.096000	0.63516|0.63516	0.528000|0.528000	0.53228|0.53228	ATA|TAT		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			43	70	0	0	0	0	43	70				
DPP6	1804	broad.mit.edu	37	7	154598806	154598806	+	Silent	SNP	C	C	T	rs547853410		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:154598806C>T	ENST00000377770.3	+	16	1791	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F	DPP6_ENST00000404039.1_Silent_p.F486F|DPP6_ENST00000427557.1_Silent_p.F443F|DPP6_ENST00000332007.3_Silent_p.F488F			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	550					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGGACTTCTTCCTGCTCAAGT	0.602																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(1648-1650)TTC>TTT		dipeptidyl-peptidase 6 isoform 1							112.0	111.0	111.0					7																	154598806		2063	4200	6263	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154598806C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1650C>T	7.37:g.154598806C>T						DPP6_uc003wli.2_Silent_p.F486F|DPP6_uc003wlm.2_Silent_p.F488F|DPP6_uc011kvq.1_Silent_p.F443F	p.F550F	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		16	1779	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	550			Extracellular (Potential).			Silent	SNP	ENST00000377770.3	37	c.1650C>T																																																																																					0.602	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		24	101	0	0	0	0	24	101				
WDR60	55112	broad.mit.edu	37	7	158672676	158672676	+	Missense_Mutation	SNP	C	C	T	rs17856461		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:158672676C>T	ENST00000407559.3	+	5	1033	c.875C>T	c.(874-876)tCc>tTc	p.S292F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	292				S -> F (in Ref. 2; AAH14491). {ECO:0000305}.	cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAGGGAATCCCAGGTACCC	0.527																																						uc003woe.3		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(874-876)TCC>TTC		WD repeat domain 60							55.0	59.0	58.0					7																	158672676		1872	4092	5964	SO:0001583	missense	55112							g.chr7:158672676C>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.875C>T	7.37:g.158672676C>T	ENSP00000384290:p.Ser292Phe					WDR60_uc010lqv.2_RNA	p.S292F	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	5	1033	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	292	S -> F (in Ref. 2; AAH14491).				Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.875C>T	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	C	3.849	-0.032203	0.07543	.	.	ENSG00000126870	ENST00000407559	T	0.24723	1.84	4.73	1.81	0.25067	.	0.878120	0.09992	N	0.729639	T	0.13841	0.0335	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.26780	-1.0093	10	0.38643	T	0.18	0.0139	4.104	0.10028	0.1853:0.6169:0.0:0.1979	rs17856461	292	Q8WVS4	WDR60_HUMAN	F	292	ENSP00000384290:S292F	ENSP00000384290:S292F	S	+	2	0	WDR60	158365437	0.000000	0.05858	0.075000	0.20258	0.023000	0.10783	-0.368000	0.07543	0.497000	0.27926	0.655000	0.94253	TCC		0.527	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		10	51	0	0	0	0	10	51				
MYOM2	9172	broad.mit.edu	37	8	2021531	2021531	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:2021531C>T	ENST00000262113.4	+	10	1212	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	357	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCTGCGCATCGTGTCTCGGG	0.627																																						uc003wpx.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1069-1071)ATC>ATT		myomesin 2							66.0	55.0	59.0					8																	2021531		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2021531C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1071C>T	8.37:g.2021531C>T						MYOM2_uc011kwi.1_Intron	p.I357I	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	10	1209	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	357			Ig-like C2-type 2.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1071C>T	CCDS5957.1																																																																																				0.627	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		23	35	0	0	0	0	23	35				
CSMD1	64478	broad.mit.edu	37	8	2830813	2830813	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:2830813G>A	ENST00000520002.1	-	58	9307	c.8752C>T	c.(8752-8754)Cct>Tct	p.P2918S	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2860S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2859S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2918S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2860S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2917S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2918						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGAATCCAGGATTATTTCCT	0.428																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(8752-8754)CCT>TCT		CUB and Sushi multiple domains 1 precursor							156.0	154.0	155.0					8																	2830813		1856	4122	5978	SO:0001583	missense	64478					integral to membrane		g.chr8:2830813G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8752C>T	8.37:g.2830813G>A	ENSP00000430733:p.Pro2918Ser					CSMD1_uc011kwj.1_Missense_Mutation_p.P2247S|CSMD1_uc010lrg.2_Missense_Mutation_p.P928S	p.P2918S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	57	9142	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2918			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8752C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.994|3.994	-0.003806|-0.003806	0.07773|0.07773	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.28069|.	1.63;1.74;1.75;1.63|.	5.21|5.21	5.21|5.21	0.72293|0.72293	Complement control module (1);|.	0.431561|.	0.22611|.	N|.	0.057837|.	T|T	0.55146|0.55146	0.1902|0.1902	N|N	0.21545|0.21545	0.675|0.675	0.80722|0.80722	D|D	1|1	P;P;B|.	0.38677|.	0.642;0.536;0.065|.	B;B;B|.	0.33121|.	0.158;0.077;0.079|.	T|T	0.50676|0.50676	-0.8800|-0.8800	10|5	0.33141|.	T|.	0.24|.	.|.	18.7778|18.7778	0.91918|0.91918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2918;2918;2859|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	S|F	2860;2918;2779;2917;2859|2334	ENSP00000383047:P2860S;ENSP00000430733:P2918S;ENSP00000441462:P2917S;ENSP00000446243:P2859S|.	ENSP00000320445:P2779S|.	P|S	-|-	1|2	0|0	CSMD1|CSMD1	2818220|2818220	0.998000|0.998000	0.40836|0.40836	0.940000|0.940000	0.37924|0.37924	0.067000|0.067000	0.16453|0.16453	2.670000|2.670000	0.46833|0.46833	2.423000|2.423000	0.82170|0.82170	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.428	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		87	160	0	0	0	0	87	160				
CSMD1	64478	broad.mit.edu	37	8	3019763	3019763	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:3019763G>A	ENST00000520002.1	-	39	6320	c.5765C>T	c.(5764-5766)cCc>cTc	p.P1922L	CSMD1_ENST00000602723.1_Missense_Mutation_p.P1922L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1921L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1922L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1922L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1921L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1921L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1922	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTTGCTGGGGAGGGCTGG	0.458																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(5764-5766)CCC>CTC		CUB and Sushi multiple domains 1 precursor							86.0	90.0	89.0					8																	3019763		1965	4145	6110	SO:0001583	missense	64478					integral to membrane		g.chr8:3019763G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5765C>T	8.37:g.3019763G>A	ENSP00000430733:p.Pro1922Leu					CSMD1_uc011kwj.1_Missense_Mutation_p.P1314L|CSMD1_uc003wqe.2_Missense_Mutation_p.P1078L|CSMD1_uc010lrg.2_5'UTR	p.P1922L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	38	6155	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1922			Sushi 11.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.5765C>T		.	.	.	.	.	.	.	.	.	.	G	16.32	3.090764	0.55968	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.48	4.59	0.56863	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	M	0.81341	2.54	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.168	D;D;B	0.97110	0.999;1.0;0.124	T	0.78677	-0.2111	10	0.02654	T	1	.	16.1556	0.81664	0.0:0.134:0.866:0.0	.	1922;1922;1922	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	L	1922;1922;1783;1921;1921;1921	ENSP00000383047:P1922L;ENSP00000430733:P1922L;ENSP00000441462:P1921L;ENSP00000446243:P1921L;ENSP00000441675:P1921L	ENSP00000320445:P1783L	P	-	2	0	CSMD1	3007170	1.000000	0.71417	0.208000	0.23602	0.068000	0.16541	8.877000	0.92386	1.414000	0.47017	0.655000	0.94253	CCC		0.458	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		9	7	0	0	0	0	9	7				
SGK223	157285	broad.mit.edu	37	8	8235533	8235533	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:8235533G>A	ENST00000520004.1	-	3	650	c.386C>T	c.(385-387)cCc>cTc	p.P129L	SGK223_ENST00000330777.4_Missense_Mutation_p.P129L			Q86YV5	SG223_HUMAN		129							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GTAGACGACGGGGGCATCCTC	0.572																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NA																	0					0						c.(385-387)CCC>CTC		pragmin							53.0	56.0	55.0					8																	8235533		1938	4135	6073	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8235533G>A																												ENST00000520004.1:c.386C>T	8.37:g.8235533G>A	ENSP00000428054:p.Pro129Leu						p.P129L	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			2	386	-			129					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.386C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	8.091	0.774596	0.16051	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.56776	0.44;0.44	5.21	3.27	0.37495	.	0.830990	0.10111	N	0.714711	T	0.40694	0.1127	L	0.27053	0.805	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.28522	-1.0041	10	0.44086	T	0.13	.	10.8941	0.47012	0.0:0.0:0.56:0.44	.	129	Q86YV5	SG223_HUMAN	L	129	ENSP00000330930:P129L;ENSP00000428054:P129L	ENSP00000330930:P129L	P	-	2	0	AC068353.1	8272943	0.545000	0.26449	0.008000	0.14137	0.005000	0.04900	2.022000	0.41030	1.508000	0.48769	-0.230000	0.12252	CCC		0.572	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			27	77	0	0	0	0	27	77				
PPP1R3B	79660	broad.mit.edu	37	8	8998678	8998678	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:8998678T>A	ENST00000310455.3	-	2	634	c.484A>T	c.(484-486)Ata>Tta	p.I162L	RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.I162L|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	162	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GTCATCCTTATTTTCACGGTC	0.512																																						uc003wsn.3		NA																	0				ovary(1)|skin(1)	2						c.(484-486)ATA>TTA		protein phosphatase 1, regulatory (inhibitor)							228.0	193.0	204.0					8																	8998678		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998678T>A	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.484A>T	8.37:g.8998678T>A	ENSP00000308318:p.Ile162Leu					PPP1R3B_uc003wso.3_Missense_Mutation_p.I161L	p.I162L	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	649	-			162			CBM21.		B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.484A>T	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939869	0.34189	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.64618	-0.11;-0.11	5.87	-3.16	0.05217	Putative phosphatase regulatory subunit (2);	0.359339	0.31427	N	0.007674	T	0.44912	0.1316	L	0.31420	0.93	0.47094	D	0.999318	B	0.02656	0.0	B	0.09377	0.004	T	0.20107	-1.0285	10	0.49607	T	0.09	-18.6224	12.7712	0.57421	0.0:0.4965:0.0:0.5035	.	162	Q86XI6	PPR3B_HUMAN	L	162	ENSP00000308318:I162L;ENSP00000428642:I162L	ENSP00000308318:I162L	I	-	1	0	PPP1R3B	9036088	0.001000	0.12720	0.192000	0.23308	0.876000	0.50452	-0.469000	0.06648	-0.310000	0.08766	0.459000	0.35465	ATA		0.512	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		80	122	0	0	0	0	80	122				
RP1L1	94137	broad.mit.edu	37	8	10465958	10465958	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:10465958G>T	ENST00000382483.3	-	4	5873	c.5650C>A	c.(5650-5652)Cag>Aag	p.Q1884K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1964					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GACTCTGGCTGGGCCTCTCCT	0.622																																						uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5650-5652)CAG>AAG		retinitis pigmentosa 1-like 1							157.0	174.0	168.0					8																	10465958		1947	4148	6095	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465958G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5650C>A	8.37:g.10465958G>T	ENSP00000371923:p.Gln1884Lys						p.Q1884K	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5879	-			1884					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5650C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.407295	0.01155	.	.	ENSG00000183638	ENST00000382483	T	0.07444	3.19	1.4	-2.8	0.05823	.	.	.	.	.	T	0.04407	0.0121	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.15484	0.013	T	0.46331	-0.9199	9	0.18276	T	0.48	.	4.79	0.13243	0.0:0.3336:0.474:0.1924	.	1884	A6NKC6	.	K	1884	ENSP00000371923:Q1884K	ENSP00000371923:Q1884K	Q	-	1	0	RP1L1	10503368	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.736000	0.04882	-0.232000	0.09811	-0.516000	0.04426	CAG		0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			55	303	1	0	3.86e-42	4.02e-42	55	303				
RP1L1	94137	broad.mit.edu	37	8	10466645	10466645	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:10466645C>T	ENST00000382483.3	-	4	5186	c.4963G>A	c.(4963-4965)Gag>Aag	p.E1655K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1735					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGACAGAACTCCTCCCCCTCC	0.667																																						uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(4963-4965)GAG>AAG		retinitis pigmentosa 1-like 1							41.0	46.0	45.0					8																	10466645		2032	4174	6206	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466645C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4963G>A	8.37:g.10466645C>T	ENSP00000371923:p.Glu1655Lys						p.E1655K	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5192	-			1655					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4963G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272919	0.59649	.	.	ENSG00000183638	ENST00000382483	T	0.26373	1.74	4.28	3.4	0.38934	.	0.239652	0.21407	N	0.075055	T	0.24314	0.0589	L	0.36672	1.1	0.30025	N	0.813975	D	0.53312	0.959	P	0.46076	0.503	T	0.11084	-1.0602	10	0.87932	D	0	-18.6737	10.9034	0.47065	0.0:0.906:0.0:0.094	.	1655	A6NKC6	.	K	1655	ENSP00000371923:E1655K	ENSP00000371923:E1655K	E	-	1	0	RP1L1	10504055	1.000000	0.71417	0.974000	0.42286	0.594000	0.36715	7.051000	0.76627	1.018000	0.39521	0.491000	0.48974	GAG		0.667	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			10	61	0	0	0	0	10	61				
RP1L1	94137	broad.mit.edu	37	8	10470364	10470364	+	Missense_Mutation	SNP	G	G	A	rs538675642		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:10470364G>A	ENST00000382483.3	-	4	1467	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	415					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCTCCCTGGGAGGCATGCAG	0.677																																						uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1243-1245)TCC>TTC		retinitis pigmentosa 1-like 1							39.0	45.0	43.0					8																	10470364		1964	4140	6104	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470364G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1244C>T	8.37:g.10470364G>A	ENSP00000371923:p.Ser415Phe						p.S415F	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1473	-			415					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.1244C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189655	0.57909	.	.	ENSG00000183638	ENST00000382483	T	0.06449	3.3	4.92	4.03	0.46877	.	2.049050	0.02970	U	0.144239	T	0.13415	0.0325	L	0.34521	1.04	0.20196	N	0.99993	D	0.61697	0.99	P	0.53518	0.728	T	0.29427	-1.0012	10	0.72032	D	0.01	0.495	9.4544	0.38745	0.0:0.1565:0.6814:0.1621	.	415	A6NKC6	.	F	415	ENSP00000371923:S415F	ENSP00000371923:S415F	S	-	2	0	RP1L1	10507774	0.974000	0.33945	0.214000	0.23707	0.018000	0.09664	2.094000	0.41719	1.020000	0.39573	0.561000	0.74099	TCC		0.677	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			31	46	0	0	0	0	31	46				
SLC35G5	83650	broad.mit.edu	37	8	11189365	11189365	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:11189365C>T	ENST00000382435.4	+	1	969	c.750C>T	c.(748-750)ctC>ctT	p.L250L		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	250						integral component of membrane (GO:0016021)											CCAGTGACCTCCTGAGTTGGA	0.637																																						uc003wtp.1		NA																	0					0						c.(748-750)CTC>CTT		acyl-malonyl condensing enzyme							81.0	87.0	85.0					8																	11189365		2203	4300	6503	SO:0001819	synonymous_variant	83650					integral to membrane		g.chr8:11189365C>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.750C>T	8.37:g.11189365C>T							p.L250L	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	871	+			250			Helical; (Potential).		A2RRL6	Silent	SNP	ENST00000382435.4	37	c.750C>T	CCDS5980.1																																																																																				0.637	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		11	106	0	0	0	0	11	106				
FDFT1	2222	broad.mit.edu	37	8	11667353	11667353	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:11667353C>T	ENST00000220584.4	+	3	597	c.375C>T	c.(373-375)ttC>ttT	p.F125F	FDFT1_ENST00000538689.1_Silent_p.F14F|FDFT1_ENST00000528812.1_Silent_p.F61F|FDFT1_ENST00000525777.1_Silent_p.F40F|FDFT1_ENST00000525900.1_Silent_p.F118F|FDFT1_ENST00000530664.1_Silent_p.F61F|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000528643.1_Silent_p.F40F|FDFT1_ENST00000443614.2_Silent_p.F125F	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	125					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TGGAGGACTTCCCAACGGTGA	0.502																																						uc003wui.2		NA																	0					0						c.(373-375)TTC>TTT		squalene synthase							83.0	66.0	72.0					8																	11667353		2203	4300	6503	SO:0001819	synonymous_variant	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11667353C>T	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.375C>T	8.37:g.11667353C>T						FDFT1_uc003wuh.2_Silent_p.F61F|FDFT1_uc010lsa.1_Silent_p.F40F|FDFT1_uc011kxe.1_Silent_p.F61F|FDFT1_uc011kxf.1_Silent_p.F125F|FDFT1_uc011kxg.1_Intron|FDFT1_uc003wuj.2_Silent_p.F118F|FDFT1_uc010lsb.2_Silent_p.F61F|FDFT1_uc011kxh.1_Silent_p.F61F|FDFT1_uc011kxi.1_RNA|FDFT1_uc011kxj.1_Silent_p.F61F|FDFT1_uc003wuk.2_Silent_p.F184F|FDFT1_uc011kxk.1_Silent_p.F40F	p.F125F	NM_004462	NP_004453	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	3	527	+	all_epithelial(15;0.234)		125					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Silent	SNP	ENST00000220584.4	37	c.375C>T	CCDS5985.1																																																																																				0.502	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			7	31	0	0	0	0	7	31				
MSR1	4481	broad.mit.edu	37	8	16026297	16026297	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:16026297T>A	ENST00000262101.5	-	4	421	c.300A>T	c.(298-300)aaA>aaT	p.K100N	MSR1_ENST00000350896.3_Missense_Mutation_p.K100N|MSR1_ENST00000355282.2_Missense_Mutation_p.K100N|MSR1_ENST00000445506.2_Missense_Mutation_p.K118N|MSR1_ENST00000381998.4_Missense_Mutation_p.K100N|MSR1_ENST00000536385.1_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	100	Spacer. {ECO:0000305}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGTCATTTCCTTTTCCCGTGA	0.373																																						uc003wwz.2		NA																	0				ovary(1)	1						c.(298-300)AAA>AAT		macrophage scavenger receptor 1 isoform type 1							212.0	195.0	201.0					8																	16026297		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026297T>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.300A>T	8.37:g.16026297T>A	ENSP00000262101:p.Lys100Asn					MSR1_uc010lsu.2_Missense_Mutation_p.K118N|MSR1_uc003wxa.2_Missense_Mutation_p.K100N|MSR1_uc003wxb.2_Missense_Mutation_p.K100N|MSR1_uc011kxz.1_Intron	p.K100N	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	498	-			100			Spacer (Probable).|Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.300A>T	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.569294	0.45798	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;D;T;T;D	0.90955	-0.66;-2.16;-0.66;-0.66;-2.76	5.05	3.9	0.45041	.	0.684467	0.13548	N	0.379715	D	0.92698	0.7679	M	0.71581	2.175	0.58432	D	0.999993	D;D;D;P	0.60575	0.969;0.982;0.988;0.905	P;P;P;P	0.59595	0.711;0.792;0.86;0.526	D	0.91641	0.5327	10	0.66056	D	0.02	.	6.9497	0.24538	0.0:0.1006:0.0:0.8994	.	118;100;100;100	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	N	100;100;118;100;100	ENSP00000262100:K100N;ENSP00000262101:K100N;ENSP00000405453:K118N;ENSP00000347430:K100N;ENSP00000371428:K100N	ENSP00000262101:K100N	K	-	3	2	MSR1	16070668	0.070000	0.21116	0.992000	0.48379	0.094000	0.18550	1.628000	0.37060	2.050000	0.60909	0.528000	0.53228	AAA		0.373	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			23	135	0	0	0	0	23	135				
ZDHHC2	51201	broad.mit.edu	37	8	17053076	17053076	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:17053076G>A	ENST00000262096.8	+	4	1011	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	106					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AGCCCATCAGGAAGTTCTTAG	0.408																																						uc003wxe.2		NA																	0					0						c.(316-318)GAA>AAA		zinc finger, DHHC-type containing 2							86.0	87.0	87.0					8																	17053076		1881	4102	5983	SO:0001583	missense	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17053076G>A	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.316G>A	8.37:g.17053076G>A	ENSP00000262096:p.Glu106Lys						p.E106K	NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	4	713	+			106					D3DSP5	Missense_Mutation	SNP	ENST00000262096.8	37	c.316G>A	CCDS47810.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040155	0.75732	.	.	ENSG00000104219	ENST00000262096;ENST00000522184	T;T	0.26518	1.73;1.73	4.53	4.53	0.55603	.	0.055345	0.64402	D	0.000001	T	0.40347	0.1113	M	0.70108	2.13	0.80722	D	1	P	0.49783	0.928	P	0.49421	0.61	T	0.36456	-0.9747	10	0.48119	T	0.1	.	17.8406	0.88714	0.0:0.0:1.0:0.0	.	106	Q9UIJ5	ZDHC2_HUMAN	K	106;61	ENSP00000262096:E106K;ENSP00000430317:E61K	ENSP00000262096:E106K	E	+	1	0	ZDHHC2	17097447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.793000	0.75130	2.534000	0.85438	0.655000	0.94253	GAA		0.408	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353		13	62	0	0	0	0	13	62				
GFRA2	2675	broad.mit.edu	37	8	21562583	21562583	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:21562583G>A	ENST00000524240.1	-	6	1609	c.959C>T	c.(958-960)tCc>tTc	p.S320F	GFRA2_ENST00000400782.4_Missense_Mutation_p.S215F|GFRA2_ENST00000518077.1_Missense_Mutation_p.S187F|GFRA2_ENST00000517328.1_Missense_Mutation_p.S320F	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	320					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCACCAGGGGGACACCACGAT	0.592																																						uc003wzu.1		NA																	0					0						c.(958-960)TCC>TTC		GDNF family receptor alpha 2 isoform a							42.0	48.0	46.0					8																	21562583		2064	4202	6266	SO:0001583	missense	2675					anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr8:21562583G>A	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.959C>T	8.37:g.21562583G>A	ENSP00000428518:p.Ser320Phe					GFRA2_uc003wzv.1_Missense_Mutation_p.S215F|GFRA2_uc003wzw.1_Missense_Mutation_p.S187F	p.S320F	NM_001495	NP_001486	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	6	1634	-			320					E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	ENST00000524240.1	37	c.959C>T	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183763	0.78677	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892	T;T;T;T;T	0.36520	1.68;1.25;1.68;1.27;1.25	5.35	5.35	0.76521	GDNF/GAS1 (2);	0.245396	0.42548	D	0.000691	T	0.62208	0.2409	M	0.78456	2.415	0.51482	D	0.999928	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.994;0.998;0.995	T	0.66536	-0.5899	10	0.87932	D	0	-22.1733	15.997	0.80260	0.0:0.0:1.0:0.0	.	187;215;320	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	F	320;215;320;187;215	ENSP00000428518:S320F;ENSP00000383592:S215F;ENSP00000429445:S320F;ENSP00000429206:S187F;ENSP00000429979:S215F	ENSP00000383592:S215F	S	-	2	0	GFRA2	21606863	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.796000	0.62496	2.493000	0.84123	0.655000	0.94253	TCC		0.592	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		3	14	0	0	0	0	3	14				
DMTN	2039	broad.mit.edu	37	8	21925103	21925103	+	Silent	SNP	C	C	T	rs140385917	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:21925103C>T	ENST00000523266.1	+	4	621	c.159C>T	c.(157-159)atC>atT	p.I53I	DMTN_ENST00000443491.2_Silent_p.I28I|DMTN_ENST00000415253.1_Silent_p.I53I|DMTN_ENST00000381470.3_Silent_p.I53I|DMTN_ENST00000265800.5_Silent_p.I53I|DMTN_ENST00000517600.1_Silent_p.I28I|DMTN_ENST00000358242.3_Silent_p.I53I|DMTN_ENST00000519907.1_Silent_p.I53I|DMTN_ENST00000523782.2_Silent_p.I28I|DMTN_ENST00000432128.1_Silent_p.I53I	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	53					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										ACAAGGCCATCCTGGACATCG	0.612													C|||	11	0.00219649	0.0	0.0	5008	,	,		17856	0.0109		0.0	False		,,,				2504	0.0					uc011kyt.1		NA																	0				central_nervous_system(1)	1						c.(157-159)ATC>ATT		erythrocyte membrane protein band 4.9 isoform 1							132.0	113.0	120.0					8																	21925103		2203	4300	6503	SO:0001819	synonymous_variant	2039				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding	g.chr8:21925103C>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.159C>T	8.37:g.21925103C>T						EPB49_uc010ltl.2_Silent_p.I53I|EPB49_uc011kys.1_Silent_p.I28I|EPB49_uc010ltn.2_Silent_p.I28I|EPB49_uc011kyu.1_Silent_p.I53I|EPB49_uc011kyv.1_Silent_p.I53I|EPB49_uc010ltq.2_Silent_p.I53I	p.I53I	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN		Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)	4	388	+			53					A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Silent	SNP	ENST00000523266.1	37	c.159C>T	CCDS6020.1																																																																																				0.612	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		13	58	0	0	0	0	13	58				
NUDT18	79873	broad.mit.edu	37	8	21965715	21965715	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:21965715G>A	ENST00000309188.6	-	4	423	c.305C>T	c.(304-306)cCc>cTc	p.P102L	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Missense_Mutation_p.P25L	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	102	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CAGTGTCTCGGGCTCACAGTG	0.682																																						uc003xaq.1		NA																	0					0						c.(304-306)CCC>CTC		nudix (nucleoside diphosphate linked moiety							26.0	35.0	32.0					8																	21965715		2133	4220	6353	SO:0001583	missense	79873						hydrolase activity|metal ion binding|protein binding	g.chr8:21965715G>A		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"""Nudix motif containing"""	26194	protein-coding gene	gene with protein product	"""mutT human homolog 3"""	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.305C>T	8.37:g.21965715G>A	ENSP00000307852:p.Pro102Leu					NUDT18_uc003xar.1_3'UTR	p.P102L	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN		Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)	5	424	-			102			Nudix hydrolase.		Q8IZ75|Q9H687	Missense_Mutation	SNP	ENST00000309188.6	37	c.305C>T		.	.	.	.	.	.	.	.	.	.	G	26.9	4.783696	0.90282	.	.	ENSG00000173566	ENST00000522405;ENST00000309188	T;T	0.06768	3.26;3.26	5.34	5.34	0.76211	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.057704	0.64402	D	0.000002	T	0.21307	0.0513	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00849	-1.1541	10	0.29301	T	0.29	-14.8297	16.5302	0.84355	0.0:0.0:1.0:0.0	.	102	Q6ZVK8	NUD18_HUMAN	L	25;102	ENSP00000430539:P25L;ENSP00000307852:P102L	ENSP00000307852:P102L	P	-	2	0	NUDT18	22021660	1.000000	0.71417	0.933000	0.37362	0.828000	0.46876	7.337000	0.79256	2.504000	0.84457	0.561000	0.74099	CCC		0.682	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_024815		3	16	0	0	0	0	3	16				
SLC39A14	23516	broad.mit.edu	37	8	22262322	22262322	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:22262322G>A	ENST00000381237.1	+	2	218	c.99G>A	c.(97-99)ctG>ctA	p.L33L	SLC39A14_ENST00000289952.5_Silent_p.L33L|SLC39A14_ENST00000359741.5_Silent_p.L33L|SLC39A14_ENST00000240095.6_Silent_p.L33L	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	33			L -> P (in dbSNP:rs896378). {ECO:0000269|PubMed:15489334}.		cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTTCATCCCTGGGTGCACCAG	0.602																																						uc003xbq.3		NA																	0					0						c.(97-99)CTG>CTA		solute carrier family 39 (zinc transporter),							94.0	95.0	94.0					8																	22262322		2203	4300	6503	SO:0001819	synonymous_variant	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22262322G>A	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.99G>A	8.37:g.22262322G>A						SLC39A14_uc011kzg.1_Silent_p.L33L|SLC39A14_uc003xbp.3_Silent_p.L33L|SLC39A14_uc011kzh.1_Silent_p.L33L	p.L33L	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	2	274	+			33			Extracellular (Potential).		A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Silent	SNP	ENST00000381237.1	37	c.99G>A	CCDS47823.1																																																																																				0.602	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		22	105	0	0	0	0	22	105				
SLC25A37	51312	broad.mit.edu	37	8	23429112	23429113	+	Missense_Mutation	DNP	CC	CC	TT	rs373004507		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:23429112_23429113CC>TT	ENST00000519973.1	+	4	959_960	c.761_762CC>TT	c.(760-762)cCC>cTT	p.P254L	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	254					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GCCACGACCCCCCTGGACGTCT	0.668																																						uc003xdo.2		NA																	0					0						c.(760-762)CCC>CTT		solute carrier family 25, member 37																																				SO:0001583	missense	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23429112_23429113CC>TT	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	Exception_encountered	8.37:g.23429112_23429113delinsTT	ENSP00000429200:p.Pro254Leu					SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|uc003xds.2_5'Flank	p.P254L	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	4	914_915	+		Prostate(55;0.114)	254			Solcar 3.		A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	DNP	ENST00000519973.1	37	c.761_762CC>TT	CCDS47828.1																																																																																				0.668	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		3	25	0	0	0	0	3	25				
ADAM7	8756	broad.mit.edu	37	8	24324313	24324313	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:24324313G>A	ENST00000175238.6	+	6	474	c.391G>A	c.(391-393)Gga>Aga	p.G131R	ADAM7_ENST00000441335.2_Splice_Site_p.G131R|ADAM7_ENST00000380789.1_Splice_Site_p.G131R|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTCTACAGGGGATTCTTCAG	0.378																																						uc003xeb.2		NA																	0				skin(3)|ovary(1)|kidney(1)	5						c.(391-393)GGA>AGA		a disintegrin and metalloproteinase domain 7							80.0	80.0	80.0					8																	24324313		2203	4300	6503	SO:0001630	splice_region_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324313G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.390-1G>A	8.37:g.24324313G>A						ADAM7_uc003xea.1_Missense_Mutation_p.G131R	p.G131R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	6	504	+		Prostate(55;0.0181)	131			Extracellular (Potential).		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.391G>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242573	0.79912	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.50001	0.76;0.76;0.76	5.4	5.4	0.78164	Peptidase M12B, propeptide (1);	0.146929	0.32430	N	0.006111	T	0.76040	0.3932	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81792	-0.0770	10	0.87932	D	0	.	14.5342	0.67947	0.0:0.0:1.0:0.0	.	131;131	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	R	131	ENSP00000393073:G131R;ENSP00000175238:G131R;ENSP00000370166:G131R	ENSP00000175238:G131R	G	+	1	0	ADAM7	24380203	1.000000	0.71417	0.994000	0.49952	0.925000	0.55904	4.220000	0.58567	2.813000	0.96785	0.561000	0.74099	GGA		0.378	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	Missense_Mutation	11	59	0	0	0	0	11	59				
ADAM7	8756	broad.mit.edu	37	8	24350689	24350689	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:24350689G>A	ENST00000175238.6	+	16	1872	c.1789G>A	c.(1789-1791)Gat>Aat	p.D597N	ADAM7_ENST00000380789.1_Missense_Mutation_p.D597N|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D369N|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	597	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTATACCATGATTCTACAGA	0.403																																						uc003xeb.2		NA																	0				skin(3)|ovary(1)|kidney(1)	5						c.(1789-1791)GAT>AAT		a disintegrin and metalloproteinase domain 7							87.0	87.0	87.0					8																	24350689		2203	4299	6502	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24350689G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1789G>A	8.37:g.24350689G>A	ENSP00000175238:p.Asp597Asn					ADAM7_uc003xec.2_Missense_Mutation_p.D369N	p.D597N	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	16	1902	+		Prostate(55;0.0181)	597			Extracellular (Potential).|Cys-rich.		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.1789G>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.492089	0.01009	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.23348	1.91;1.91;1.91	5.64	-3.25	0.05079	ADAM, cysteine-rich (2);	0.591334	0.16151	N	0.227262	T	0.09468	0.0233	N	0.13198	0.31	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.17776	-1.0358	10	0.26408	T	0.33	.	1.9294	0.03324	0.3597:0.1331:0.3636:0.1436	.	369;597	E5RK87;Q9H2U9	.;ADAM7_HUMAN	N	597;597;369;412	ENSP00000175238:D597N;ENSP00000370166:D597N;ENSP00000430400:D369N	ENSP00000175238:D597N	D	+	1	0	ADAM7	24406579	0.000000	0.05858	0.051000	0.19133	0.005000	0.04900	-0.223000	0.09177	-0.167000	0.10871	-0.259000	0.10710	GAT		0.403	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		18	36	0	0	0	0	18	36				
SCARA3	51435	broad.mit.edu	37	8	27516190	27516190	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:27516190C>T	ENST00000301904.3	+	5	523	c.503C>T	c.(502-504)tCc>tTc	p.S168F	SCARA3_ENST00000337221.4_Missense_Mutation_p.S168F	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	168					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AGACAAATCTCCCAGGAGATG	0.612																																						uc003xga.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(502-504)TCC>TTC		scavenger receptor class A, member 3 isoform 1							70.0	71.0	71.0					8																	27516190		2203	4300	6503	SO:0001583	missense	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27516190C>T	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.503C>T	8.37:g.27516190C>T	ENSP00000301904:p.Ser168Phe					SCARA3_uc003xgb.1_Missense_Mutation_p.S168F	p.S168F	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	5	644	+		Ovarian(32;2.61e-05)	168			Extracellular (Potential).		Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	c.503C>T	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133657	0.37630	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;T	0.78126	-1.15;1.88	5.92	5.92	0.95590	.	0.358266	0.32719	N	0.005739	T	0.62768	0.2455	N	0.14661	0.345	0.38343	D	0.944135	P;B	0.41569	0.755;0.412	B;B	0.37888	0.26;0.133	T	0.70995	-0.4720	10	0.62326	D	0.03	-15.6513	12.7222	0.57147	0.1642:0.8357:0.0:0.0	.	168;168	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	F	168	ENSP00000337985:S168F;ENSP00000301904:S168F	ENSP00000301904:S168F	S	+	2	0	SCARA3	27572109	0.485000	0.25972	0.998000	0.56505	0.726000	0.41606	1.223000	0.32527	2.813000	0.96785	0.561000	0.74099	TCC		0.612	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		10	57	0	0	0	0	10	57				
NUGGC	389643	broad.mit.edu	37	8	27880848	27880848	+	Missense_Mutation	SNP	C	C	T	rs376263360	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:27880848C>T	ENST00000413272.2	-	19	2519	c.2377G>A	c.(2377-2379)Ggg>Agg	p.G793R	NUGGC_ENST00000341513.6_Missense_Mutation_p.G793R	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	793					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										AGTGATGTCCCGGGGGGGCCA	0.527													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19563	0.0		0.0	False		,,,				2504	0.0					uc003xgm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2377-2379)GGG>AGG		speckled-like pattern in the germinal center		C	ARG/GLY	1,3761		0,1,1880	32.0	34.0	34.0		2377	-0.7	0.0	8		34	0,8222		0,0,4111	no	missense	C8orf80	NM_001010906.1	125	0,1,5991	TT,TC,CC		0.0,0.0266,0.0083	benign	793/797	27880848	1,11983	1881	4111	5992	SO:0001583	missense	389643					nucleus	GTP binding|GTPase activity	g.chr8:27880848C>T	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2377G>A	8.37:g.27880848C>T	ENSP00000408697:p.Gly793Arg						p.G793R	NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)	19	2520	-		Ovarian(32;0.0218)	793					Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.2377G>A	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	0.802	-0.755191	0.03019	2.66E-4	0.0	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.13420	2.59;2.6	4.83	-0.721	0.11189	.	1.636260	0.03056	N	0.155187	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29701	-1.0003	10	0.08179	T	0.78	1.12	5.1336	0.14922	0.0:0.3385:0.1991:0.4624	.	793	Q68CJ6	SLIP_HUMAN	R	793	ENSP00000408697:G793R;ENSP00000345031:G793R	ENSP00000345031:G793R	G	-	1	0	C8orf80	27936767	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.116000	0.03286	0.049000	0.15920	-0.423000	0.05987	GGG		0.527	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		8	29	0	0	0	0	8	29				
EXTL3	2137	broad.mit.edu	37	8	28574958	28574958	+	Missense_Mutation	SNP	C	C	T	rs554294508		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:28574958C>T	ENST00000220562.4	+	3	2284	c.1382C>T	c.(1381-1383)cCg>cTg	p.P461L	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.P77L	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	461					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGTGCCGTCCCGGTGGTGCTG	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18212	0.0		0.0	False		,,,				2504	0.0					uc003xgz.1		NA																	0				skin(2)	2						c.(1381-1383)CCG>CTG		exostoses-like 3							55.0	58.0	57.0					8																	28574958		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28574958C>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1382C>T	8.37:g.28574958C>T	ENSP00000220562:p.Pro461Leu						p.P461L	NM_001440	NP_001431	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1975	+		Ovarian(32;0.069)	461			Lumenal (Potential).		D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.1382C>T	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822690	0.50739	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.99962	-9.47;-9.47	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.99961	0.9984	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94848	0.8011	10	0.87932	D	0	-16.2095	19.5953	0.95535	0.0:1.0:0.0:0.0	.	461	O43909	EXTL3_HUMAN	L	77;461	ENSP00000428691:P77L;ENSP00000220562:P461L	ENSP00000220562:P461L	P	+	2	0	EXTL3	28630877	1.000000	0.71417	0.955000	0.39395	0.065000	0.16274	7.806000	0.86020	2.643000	0.89663	0.655000	0.94253	CCG		0.622	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		15	32	0	0	0	0	15	32				
UNC5D	137970	broad.mit.edu	37	8	35583804	35583804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:35583804G>A	ENST00000404895.2	+	10	1766	c.1438G>A	c.(1438-1440)Gac>Aac	p.D480N	UNC5D_ENST00000449677.1_Missense_Mutation_p.D56N|UNC5D_ENST00000420357.1_Missense_Mutation_p.D413N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D485N|UNC5D_ENST00000453357.2_Missense_Mutation_p.D475N|UNC5D_ENST00000287272.2_Missense_Mutation_p.D411N	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	480					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCTTTGTCGGACATCAAAGT	0.522																																						uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1438-1440)GAC>AAC		unc-5 homolog D precursor							66.0	65.0	65.0					8																	35583804		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583804G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1438G>A	8.37:g.35583804G>A	ENSP00000385143:p.Asp480Asn					UNC5D_uc003xjs.1_Missense_Mutation_p.D475N|UNC5D_uc003xju.1_Missense_Mutation_p.D56N|UNC5D_uc003xjt.1_Missense_Mutation_p.D238N	p.D480N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	10	1766	+			480			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1438G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895836	0.52121	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.55588	0.55;1.01;1.05;0.55;0.51;2.58	6.04	6.04	0.98038	.	0.083175	0.85682	D	0.000000	T	0.56963	0.2021	N	0.16233	0.39	0.80722	D	1	D;D;D;D	0.89917	1.0;0.982;0.99;0.982	D;P;P;P	0.83275	0.996;0.669;0.822;0.669	T	0.45131	-0.9282	10	0.07325	T	0.83	-30.5286	20.5948	0.99439	0.0:0.0:1.0:0.0	.	56;485;475;480	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	N	480;413;411;485;475;56	ENSP00000385143:D480N;ENSP00000392739:D413N;ENSP00000287272:D411N;ENSP00000412652:D485N;ENSP00000394303:D475N;ENSP00000397211:D56N	ENSP00000287272:D411N	D	+	1	0	UNC5D	35703346	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	GAC		0.522	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			7	30	0	0	0	0	7	30				
KCNU1	157855	broad.mit.edu	37	8	36644890	36644890	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:36644890C>T	ENST00000399881.3	+	2	299	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	88					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGGACAATTTCGTGATCATAT	0.428																																						uc010lvw.2		NA																	0				ovary(1)	1						c.(262-264)CGT>TGT		potassium channel, subfamily U, member 1							91.0	90.0	90.0					8																	36644890		1920	4113	6033	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36644890C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.262C>T	8.37:g.36644890C>T	ENSP00000382770:p.Arg88Cys					KCNU1_uc003xjw.2_RNA	p.R88C	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	2	349	+			88			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.262C>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050804	0.55218	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.37584	1.19;1.22	5.48	3.57	0.40892	.	.	.	.	.	T	0.27349	0.0671	L	0.40543	1.245	0.20703	N	0.999862	B	0.26445	0.149	B	0.19148	0.024	T	0.20739	-1.0266	9	0.87932	D	0	.	6.4768	0.22041	0.179:0.7299:0.0:0.0911	.	88	A8MYU2	KCNU1_HUMAN	C	88	ENSP00000429951:R88C;ENSP00000382770:R88C	ENSP00000382770:R88C	R	+	1	0	KCNU1	36764048	0.736000	0.28164	0.084000	0.20598	0.002000	0.02628	1.785000	0.38684	1.468000	0.48064	-0.136000	0.14681	CGT		0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		9	24	0	0	0	0	9	24				
KAT6A	7994	broad.mit.edu	37	8	41798814	41798814	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:41798814G>A	ENST00000396930.3	-	16	3128	c.2585C>T	c.(2584-2586)cCa>cTa	p.P862L	KAT6A_ENST00000406337.1_Missense_Mutation_p.P862L|KAT6A_ENST00000265713.2_Missense_Mutation_p.P862L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	862					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCTCCGAGATGGCTGGCTATT	0.468																																						uc010lxb.2		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2584-2586)CCA>CTA		MYST histone acetyltransferase (monocytic							91.0	92.0	92.0					8																	41798814		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798814G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2585C>T	8.37:g.41798814G>A	ENSP00000380136:p.Pro862Leu					MYST3_uc010lxc.2_Missense_Mutation_p.P862L|MYST3_uc003xon.3_Missense_Mutation_p.P862L	p.P862L	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		16	3129	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	862					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.2585C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739421	0.49045	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.59083	0.29;0.29;0.29	5.67	5.67	0.87782	.	0.075331	0.56097	D	0.000032	T	0.47691	0.1459	L	0.29908	0.895	0.58432	D	0.999991	B	0.31680	0.335	B	0.28139	0.086	T	0.43147	-0.9409	10	0.40728	T	0.16	-12.2961	17.9519	0.89056	0.0:0.0:1.0:0.0	.	862	Q92794	KAT6A_HUMAN	L	862;862;862;442	ENSP00000265713:P862L;ENSP00000385888:P862L;ENSP00000380136:P862L	ENSP00000265713:P862L	P	-	2	0	KAT6A	41917971	1.000000	0.71417	0.945000	0.38365	0.986000	0.74619	6.394000	0.73223	2.666000	0.90696	0.655000	0.94253	CCA		0.468	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		17	96	0	0	0	0	17	96				
PLAT	5327	broad.mit.edu	37	8	42038041	42038041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:42038041C>T	ENST00000220809.4	-	10	1308	c.1052G>A	c.(1051-1053)tGg>tAg	p.W351*	PLAT_ENST00000429710.2_Nonsense_Mutation_p.W225*|PLAT_ENST00000352041.3_Nonsense_Mutation_p.W305*|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Nonsense_Mutation_p.W262*|PLAT_ENST00000429089.2_Nonsense_Mutation_p.W351*|PLAT_ENST00000519510.1_Nonsense_Mutation_p.W288*	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	351	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	AGAGAGAATCCAGCAGGAGCT	0.607																																						uc003xos.2		NA																	0				breast(1)|skin(1)	2						c.(1051-1053)TGG>TAG		plasminogen activator, tissue isoform 1	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						69.0	77.0	74.0					8																	42038041		2203	4300	6503	SO:0001587	stop_gained	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42038041C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1052G>A	8.37:g.42038041C>T	ENSP00000220809:p.Trp351*					PLAT_uc010lxf.1_Nonsense_Mutation_p.W268*|PLAT_uc010lxg.1_Nonsense_Mutation_p.W176*|PLAT_uc003xot.2_Nonsense_Mutation_p.W305*|PLAT_uc011lcm.1_Nonsense_Mutation_p.W262*|PLAT_uc011lcn.1_Nonsense_Mutation_p.W225*	p.W351*	NM_000930	NP_000921	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		10	1261	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	351			Peptidase S1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Nonsense_Mutation	SNP	ENST00000220809.4	37	c.1052G>A	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	38	6.665355	0.97747	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	.	.	.	5.52	5.52	0.82312	.	0.155621	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4462	0.94847	0.0:1.0:0.0:0.0	.	.	.	.	X	351;351;305;288;225;262	.	ENSP00000220809:W351X	W	-	2	0	PLAT	42157198	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.776000	0.85560	2.595000	0.87683	0.650000	0.86243	TGG		0.607	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		21	86	0	0	0	0	21	86				
DKK4	27121	broad.mit.edu	37	8	42234519	42234519	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:42234519G>A	ENST00000220812.2	-	1	231	c.45C>T	c.(43-45)ccC>ccT	p.P15P		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	15					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			GAGCTCCCAGGGGAGAGCAGA	0.657																																						uc003xpb.2		NA																	0				ovary(1)	1						c.(43-45)CCC>CCT		dickkopf homolog 4 precursor							51.0	48.0	49.0					8																	42234519		2203	4300	6503	SO:0001819	synonymous_variant	27121				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr8:42234519G>A	AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.45C>T	8.37:g.42234519G>A							p.P15P	NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)		1	156	-	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	15					Q3KNX0|Q9Y4C3	Silent	SNP	ENST00000220812.2	37	c.45C>T	CCDS6130.1																																																																																				0.657	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1			4	53	0	0	0	0	4	53				
CHRNB3	1142	broad.mit.edu	37	8	42585737	42585737	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:42585737G>A	ENST00000289957.2	+	4	378	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	84					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TTTCATGCAGGAATGGACAGA	0.378																																						uc003xpi.1		NA																	0				ovary(1)	1						c.(250-252)GAA>AAA		cholinergic receptor, nicotinic, beta							98.0	88.0	91.0					8																	42585737		2203	4300	6503	SO:0001630	splice_region_variant	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42585737G>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.250-1G>A	8.37:g.42585737G>A							p.E84K	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		4	378	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	84			Extracellular (Potential).		Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.250G>A	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.180576	0.78677	.	.	ENSG00000147432	ENST00000289957	T	0.78924	-1.22	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.79701	0.4491	N	0.25825	0.765	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77273	-0.2649	9	.	.	.	.	12.3524	0.55155	0.0819:0.0:0.9181:0.0	.	84	Q05901	ACHB3_HUMAN	K	84	ENSP00000289957:E84K	.	E	+	1	0	CHRNB3	42704894	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.752000	0.74898	2.651000	0.90000	0.650000	0.86243	GAA		0.378	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1		Missense_Mutation	23	35	0	0	0	0	23	35				
SNAI2	6591	broad.mit.edu	37	8	49832560	49832560	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:49832560G>A	ENST00000396822.1	-	3	877	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	SNAI2_ENST00000020945.1_Silent_p.L174L			O43623	SNAI2_HUMAN	snail family zinc finger 2	174					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGCATCTTCAGGGCGCCCAGG	0.488																																						uc003xqp.2		NA																	0				ovary(2)	2						c.(520-522)CTG>TTG		snail 2							94.0	94.0	94.0					8																	49832560		2203	4300	6503	SO:0001819	synonymous_variant	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832560G>A	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.520C>T	8.37:g.49832560G>A							p.L174L	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	684	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	174			C2H2-type 2.		B2R6P6|Q53FC1	Silent	SNP	ENST00000396822.1	37	c.520C>T	CCDS6146.1																																																																																				0.488	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		14	77	0	0	0	0	14	77				
SDCBP	6386	broad.mit.edu	37	8	59492285	59492285	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:59492285G>T	ENST00000260130.4	+	7	832	c.682G>T	c.(682-684)Gcc>Tcc	p.A228S	SDCBP_ENST00000520168.1_Missense_Mutation_p.A169S|SDCBP_ENST00000424270.2_Missense_Mutation_p.A222S|SDCBP_ENST00000413219.2_Missense_Mutation_p.A228S|SDCBP_ENST00000447182.2_Missense_Mutation_p.A227S|SDCBP_ENST00000523483.1_Missense_Mutation_p.A248S|SDCBP_ENST00000447267.2_Missense_Mutation_p.A174S|SDCBP_ENST00000422546.2_Missense_Mutation_p.A227S	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	228	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TAGCTCTGCAGCCAGAAATGG	0.393																																						uc003xtn.2		NA																	0					0						c.(682-684)GCC>TCC		syntenin isoform 1							120.0	112.0	115.0					8																	59492285		2203	4300	6503	SO:0001583	missense	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59492285G>T	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.682G>T	8.37:g.59492285G>T	ENSP00000260130:p.Ala228Ser					SDCBP_uc003xto.2_Missense_Mutation_p.A227S|SDCBP_uc003xtr.2_Missense_Mutation_p.A227S|SDCBP_uc003xtp.2_Missense_Mutation_p.A222S|SDCBP_uc003xtq.2_Missense_Mutation_p.A228S|SDCBP_uc003xts.2_Missense_Mutation_p.A234S|SDCBP_uc011led.1_Missense_Mutation_p.A169S	p.A228S	NM_005625	NP_005616	O00560	SDCB1_HUMAN			7	832	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	228			PDZ 2.		B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	ENST00000260130.4	37	c.682G>T	CCDS6172.1	.	.	.	.	.	.	.	.	.	.	G	35	5.536052	0.96460	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.76	5.76	0.90799	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.71206	2.165	0.80722	D	1	D;P;D;P	0.64830	0.994;0.689;0.963;0.922	D;P;D;D	0.75020	0.985;0.863;0.943;0.947	T	0.62001	-0.6946	9	.	.	.	-15.1458	20.3277	0.98707	0.0:0.0:1.0:0.0	.	169;248;222;228	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	S	228;227;227;228;222;248;169;174	ENSP00000260130:A228S;ENSP00000391687:A227S;ENSP00000409288:A227S;ENSP00000411771:A228S;ENSP00000395351:A222S;ENSP00000428184:A248S;ENSP00000430730:A169S;ENSP00000397820:A174S	.	A	+	1	0	SDCBP	59654839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.752000	0.98900	2.879000	0.98667	0.650000	0.86243	GCC		0.393	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	NM_005625		49	76	1	0	8e-19	8.3e-19	49	76				
CA8	767	broad.mit.edu	37	8	61121414	61121414	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:61121414C>T	ENST00000317995.4	-	8	1067	c.803G>A	c.(802-804)gGg>gAg	p.G268E		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	268					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	TCCCAAAATCCCATCACAGCC	0.428																																						uc003xtz.1		NA																	0					0						c.(802-804)GGG>GAG		carbonic anhydrase VIII							120.0	106.0	111.0					8																	61121414		2203	4300	6503	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61121414C>T	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.803G>A	8.37:g.61121414C>T	ENSP00000314407:p.Gly268Glu					CA8_uc003xua.1_Missense_Mutation_p.G268E	p.G268E	NM_004056	NP_004047	P35219	CAH8_HUMAN			8	1051	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	268					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.803G>A	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683566	0.88639	.	.	ENSG00000178538	ENST00000317995	T	0.51817	0.69	5.89	5.89	0.94794	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.045833	0.85682	D	0.000000	T	0.58206	0.2106	L	0.41079	1.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46034	-0.9220	10	0.02654	T	1	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	268	P35219	CAH8_HUMAN	E	268	ENSP00000314407:G268E	ENSP00000314407:G268E	G	-	2	0	CA8	61283968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.469000	0.80959	2.783000	0.95769	0.655000	0.94253	GGG		0.428	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			28	53	0	0	0	0	28	53				
ASPH	444	broad.mit.edu	37	8	62475388	62475388	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:62475388G>A	ENST00000379454.4	-	18	1539	c.1352C>T	c.(1351-1353)cCc>cTc	p.P451L	ASPH_ENST00000541428.1_Missense_Mutation_p.P422L	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	451					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGTATCATTGGGAAATAGTTG	0.353																																						uc003xuj.2		NA																	0				ovary(3)	3						c.(1351-1353)CCC>CTC		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						113.0	111.0	112.0					8																	62475388		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62475388G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1352C>T	8.37:g.62475388G>A	ENSP00000368767:p.Pro451Leu					ASPH_uc011leg.1_Missense_Mutation_p.P422L|ASPH_uc003xuo.2_Missense_Mutation_p.P432L	p.P451L	NM_004318	NP_004309	Q12797	ASPH_HUMAN			18	1621	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	451			Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1352C>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199808	0.79015	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.56444	0.46;0.46	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79507	-0.1775	10	0.87932	D	0	-14.311	19.6695	0.95905	0.0:0.0:1.0:0.0	.	422;451	F5H667;Q12797	.;ASPH_HUMAN	L	422;451	ENSP00000437864:P422L;ENSP00000368767:P451L	ENSP00000368767:P451L	P	-	2	0	ASPH	62637942	1.000000	0.71417	0.906000	0.35671	0.531000	0.34715	8.910000	0.92685	2.701000	0.92244	0.650000	0.86243	CCC		0.353	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		26	111	0	0	0	0	26	111				
CYP7B1	9420	broad.mit.edu	37	8	65528305	65528305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:65528305G>A	ENST00000310193.3	-	3	966	c.793C>T	c.(793-795)Caa>Taa	p.Q265*	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	265					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCCTGCTTTGAAAAACTTCT	0.363																																						uc003xvj.2		NA																	0				ovary(3)	3						c.(793-795)CAA>TAA		cytochrome P450, family 7, subfamily B,							201.0	200.0	200.0					8																	65528305		2203	4299	6502	SO:0001587	stop_gained	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65528305G>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.793C>T	8.37:g.65528305G>A	ENSP00000310721:p.Gln265*						p.Q265*	NM_004820	NP_004811	O75881	CP7B1_HUMAN			3	997	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	265					B2RN07|Q9UNF5	Nonsense_Mutation	SNP	ENST00000310193.3	37	c.793C>T	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505608	0.85282	.	.	ENSG00000172817	ENST00000310193	.	.	.	5.63	4.68	0.58851	.	0.227306	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-18.5568	17.2682	0.87093	0.0:0.0:0.8659:0.134	.	.	.	.	X	265	.	ENSP00000310721:Q265X	Q	-	1	0	CYP7B1	65690859	1.000000	0.71417	0.864000	0.33941	0.252000	0.25951	2.809000	0.47971	2.654000	0.90174	0.561000	0.74099	CAA		0.363	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			47	216	0	0	0	0	47	216				
TRIM55	84675	broad.mit.edu	37	8	67040642	67040642	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:67040642G>A	ENST00000315962.4	+	2	645	c.272G>A	c.(271-273)gGg>gAg	p.G91E	TRIM55_ENST00000276573.7_Missense_Mutation_p.G91E|TRIM55_ENST00000353317.5_Missense_Mutation_p.G91E|TRIM55_ENST00000350034.4_Missense_Mutation_p.G91E	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	91					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATAGACATGGGGTATATGGA	0.498																																						uc003xvv.2		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(271-273)GGG>GAG		tripartite motif-containing 55 isoform 1							161.0	160.0	160.0					8																	67040642		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67040642G>A	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.272G>A	8.37:g.67040642G>A	ENSP00000323913:p.Gly91Glu					TRIM55_uc003xvu.2_Missense_Mutation_p.G91E|TRIM55_uc003xvw.2_Missense_Mutation_p.G91E|TRIM55_uc003xvx.2_Missense_Mutation_p.G91E	p.G91E	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	498	+		Lung NSC(129;0.138)|all_lung(136;0.221)	91					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.272G>A	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458636	0.96240	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.49432	0.94;1.01;0.93;0.78	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.993;0.998	D;D;D;D	0.83275	0.996;0.996;0.967;0.976	T	0.78510	-0.2176	10	0.87932	D	0	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	91;91;91;91	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	E	91	ENSP00000323913:G91E;ENSP00000297348:G91E;ENSP00000276573:G91E;ENSP00000332302:G91E	ENSP00000276573:G91E	G	+	2	0	TRIM55	67203196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.860000	0.99555	2.747000	0.94245	0.650000	0.86243	GGG		0.498	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		26	150	0	0	0	0	26	150				
PREX2	80243	broad.mit.edu	37	8	69031678	69031678	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:69031678C>T	ENST00000288368.4	+	28	3710	c.3433C>T	c.(3433-3435)Ccc>Tcc	p.P1145S		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1145					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGATGAACTTCCCTTAAGTGT	0.348																																						uc003xxv.1		NA																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(3433-3435)CCC>TCC		DEP domain containing 2 isoform a							159.0	144.0	149.0					8																	69031678		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69031678C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3433C>T	8.37:g.69031678C>T	ENSP00000288368:p.Pro1145Ser						p.P1145S	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			28	3460	+			1145					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3433C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284854	0.80803	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.37235	1.21	5.39	5.39	0.77823	.	0.059984	0.64402	D	0.000002	T	0.54598	0.1868	L	0.59436	1.845	0.80722	D	1	D	0.54601	0.967	P	0.58454	0.839	T	0.53500	-0.8430	10	0.56958	D	0.05	.	19.5223	0.95190	0.0:1.0:0.0:0.0	.	1145	Q70Z35	PREX2_HUMAN	S	1145;1151	ENSP00000288368:P1145S	ENSP00000288368:P1145S	P	+	1	0	PREX2	69194232	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	5.364000	0.66110	2.697000	0.92050	0.650000	0.86243	CCC		0.348	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		17	80	0	0	0	0	17	80				
C8orf34	116328	broad.mit.edu	37	8	69633671	69633671	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:69633671C>T	ENST00000539993.1	+	10	1694	c.1145C>T	c.(1144-1146)cCt>cTt	p.P382L	C8orf34_ENST00000337103.4_Splice_Site_p.P357L|C8orf34_ENST00000325233.3_Splice_Site_p.P126L|C8orf34_ENST00000518698.1_Splice_Site_p.P468L			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	382										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)			CTAACAGGACCTGTAAGTATA	0.284																																						uc010lyz.2		NA																	0				large_intestine(1)	1						c.(1144-1146)CCT>CTT		hypothetical protein LOC116328							93.0	100.0	98.0					8																	69633671		2203	4300	6503	SO:0001630	splice_region_variant	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69633671C>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.1146+1C>T	8.37:g.69633671C>T						C8orf34_uc003xyb.2_Missense_Mutation_p.P357L	p.P382L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		10	1194	+			382					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.1145C>T		.	.	.	.	.	.	.	.	.	.	C	12.15	1.851428	0.32699	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.52526	0.66;0.72;0.71;0.69	5.55	3.65	0.41850	.	0.899586	0.09703	N	0.766666	T	0.36771	0.0979	L	0.29908	0.895	0.33597	D	0.601776	B	0.11235	0.004	B	0.16289	0.015	T	0.36866	-0.9730	9	.	.	.	-0.0654	11.5703	0.50830	0.3481:0.6519:0.0:0.0	.	382	Q49A92	CH034_HUMAN	L	468;382;357;126	ENSP00000427820:P468L;ENSP00000438159:P382L;ENSP00000337174:P357L;ENSP00000319532:P126L	.	P	+	2	0	C8orf34	69796225	0.995000	0.38212	0.981000	0.43875	0.718000	0.41266	0.247000	0.18179	0.728000	0.32382	0.585000	0.79938	CCT		0.284	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	Missense_Mutation	5	35	0	0	0	0	5	35				
PRDM14	63978	broad.mit.edu	37	8	70970904	70970904	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:70970904G>A	ENST00000276594.2	-	6	1558	c.1357C>T	c.(1357-1359)Cat>Tat	p.H453Y		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	453					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCATGAACATGAAGAATGTGG	0.532																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NA																	0				ovary(3)	3						c.(1357-1359)CAT>TAT		PR domain containing 14							121.0	108.0	113.0					8																	70970904		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70970904G>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1357C>T	8.37:g.70970904G>A	ENSP00000276594:p.His453Tyr						p.H453Y	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		6	1559	-	Breast(64;0.193)		453			C2H2-type 2.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1357C>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228743	0.79576	.	.	ENSG00000147596	ENST00000276594	T	0.13196	2.61	5.58	5.58	0.84498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	N	0.17674	0.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05989	-1.0852	10	0.72032	D	0.01	-34.0365	19.581	0.95467	0.0:0.0:1.0:0.0	.	453	Q9GZV8	PRD14_HUMAN	Y	453	ENSP00000276594:H453Y	ENSP00000276594:H453Y	H	-	1	0	PRDM14	71133458	1.000000	0.71417	0.246000	0.24233	0.558000	0.35554	9.288000	0.96055	2.626000	0.88956	0.655000	0.94253	CAT		0.532	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			19	46	0	0	0	0	19	46				
STAU2	27067	broad.mit.edu	37	8	74529566	74529566	+	De_novo_Start_InFrame	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:74529566T>A	ENST00000521451.1	-	0	222				STAU2_ENST00000519961.1_Missense_Mutation_p.Q177H|STAU2_ENST00000524300.1_Missense_Mutation_p.Q177H|STAU2_ENST00000521727.1_Missense_Mutation_p.Q157H|STAU2_ENST00000355780.5_Missense_Mutation_p.Q145H|STAU2_ENST00000521210.1_Missense_Mutation_p.Q73H|STAU2_ENST00000522695.1_Missense_Mutation_p.Q145H|STAU2_ENST00000523558.1_Missense_Mutation_p.Q5H|STAU2_ENST00000517542.1_Missense_Mutation_p.Q139H|STAU2_ENST00000522509.1_Missense_Mutation_p.Q145H			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2						transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCTGCAGTGCTTGGAGGGCTT	0.433																																						uc003xzm.2		NA																	0					0						c.(529-531)CAA>CAT		staufen homolog 2 isoform e							164.0	146.0	152.0					8																	74529566		2203	4300	6503			27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74529566T>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499		8.37:g.74529566T>A						STAU2_uc011lfg.1_Missense_Mutation_p.Q5H|STAU2_uc003xzn.2_Missense_Mutation_p.Q145H|STAU2_uc011lfh.1_Missense_Mutation_p.Q73H|STAU2_uc003xzo.2_Missense_Mutation_p.Q177H|STAU2_uc003xzp.2_Missense_Mutation_p.Q145H|STAU2_uc011lfi.1_Missense_Mutation_p.Q139H|STAU2_uc003xzq.2_Translation_Start_Site|STAU2_uc010lzk.2_Missense_Mutation_p.Q145H|STAU2_uc010lzl.1_Missense_Mutation_p.Q5H	p.Q177H	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		7	767	-	Breast(64;0.0138)		177			DRBM 2.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521451.1	37	c.531A>T		.	.	.	.	.	.	.	.	.	.	T	11.36	1.615563	0.28801	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000518767;ENST00000521447	T;T;T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;1.42;-0.07;-1.25;-1.25;-1.25;-1.25;-1.25;1.42;-1.25	5.1	-1.66	0.08265	.	0.051689	0.85682	D	0.000000	T	0.56001	0.1956	N	0.21448	0.665	0.80722	D	1	B;B;B;B;B;B;B	0.16802	0.012;0.019;0.006;0.01;0.005;0.012;0.009	B;B;B;B;B;B;B	0.21917	0.018;0.037;0.003;0.01;0.008;0.018;0.02	T	0.25950	-1.0117	10	0.41790	T	0.15	-41.0412	2.6771	0.05084	0.1203:0.3573:0.1237:0.3987	.	157;73;5;145;177;145;177	E7EPX0;E9PEI3;E7ER74;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.	H	145;177;5;73;145;177;157;145;139;5;145	ENSP00000428456:Q145H;ENSP00000428756:Q177H;ENSP00000428741:Q5H;ENSP00000429173:Q73H;ENSP00000348026:Q145H;ENSP00000430907:Q177H;ENSP00000429973:Q157H;ENSP00000427977:Q145H;ENSP00000431111:Q139H;ENSP00000429005:Q5H;ENSP00000428829:Q145H	ENSP00000344030:Q5H	Q	-	3	2	STAU2	74692120	0.993000	0.37304	0.955000	0.39395	0.643000	0.38383	0.223000	0.17719	0.056000	0.16144	0.454000	0.30748	CAA		0.433	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		24	46	0	0	0	0	24	46				
ZFHX4	79776	broad.mit.edu	37	8	77764288	77764288	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:77764288C>T	ENST00000521891.2	+	10	5579	c.5131C>T	c.(5131-5133)Cct>Tct	p.P1711S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1685S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1666S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1666S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1666	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTCTTTCAGCCTCAGTTTCT	0.453										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4996-4998)CCT>TCT		zinc finger homeodomain 4							101.0	99.0	100.0					8																	77764288		2038	4213	6251	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764288C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5131C>T	8.37:g.77764288C>T	ENSP00000430497:p.Pro1711Ser	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P1711S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1666S	p.P1666S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5383	+			1666			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4996C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550594	0.45383	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.43688	0.94;1.0;0.97;0.96	4.48	4.48	0.54585	.	0.000000	0.44285	U	0.000473	T	0.33206	0.0855	L	0.33485	1.01	0.58432	D	0.999999	P;P;P	0.46784	0.816;0.728;0.884	B;B;B	0.43658	0.245;0.297;0.426	T	0.12734	-1.0536	10	0.05351	T	0.99	.	17.7137	0.88330	0.0:1.0:0.0:0.0	.	1666;1666;1711	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	1711;1711;1666;1666;1685	ENSP00000430497:P1711S;ENSP00000399605:P1666S;ENSP00000050961:P1666S;ENSP00000430848:P1685S	ENSP00000050961:P1666S	P	+	1	0	ZFHX4	77926843	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.733000	0.62036	2.486000	0.83907	0.637000	0.83480	CCT		0.453	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		16	73	0	0	0	0	16	73				
ZFHX4	79776	broad.mit.edu	37	8	77766126	77766126	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:77766126G>A	ENST00000521891.2	+	10	7417	c.6969G>A	c.(6967-6969)agG>agA	p.R2323R	ZFHX4_ENST00000518282.1_Silent_p.R2297R|ZFHX4_ENST00000455469.2_Silent_p.R2278R|ZFHX4_ENST00000050961.6_Silent_p.R2278R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTTCCCCAGGATCTTTGACT	0.398										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6832-6834)AGG>AGA		zinc finger homeodomain 4							113.0	109.0	110.0					8																	77766126		1972	4165	6137	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766126G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6969G>A	8.37:g.77766126G>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.R2323R|ZFHX4_uc003yaw.1_Silent_p.R2278R	p.R2278R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7221	+			2278			C2H2-type 15; degenerate.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.6834G>A	CCDS47878.2																																																																																				0.398	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		29	72	0	0	0	0	29	72				
ZNF704	619279	broad.mit.edu	37	8	81733814	81733814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:81733814G>A	ENST00000327835.3	-	2	247	c.16C>T	c.(16-18)Cag>Tag	p.Q6*		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	6							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCCTCTGACTGAAATGTGAAG	0.408																																						uc003yby.1		NA																	0					0						c.(16-18)CAG>TAG		zinc finger protein 704							166.0	164.0	165.0					8																	81733814		2203	4300	6503	SO:0001587	stop_gained	619279					intracellular	zinc ion binding	g.chr8:81733814G>A	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.16C>T	8.37:g.81733814G>A	ENSP00000331462:p.Gln6*						p.Q6*	NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	248	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		6					B2RNE6|B9EGW6	Nonsense_Mutation	SNP	ENST00000327835.3	37	c.16C>T	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	G	37	6.363553	0.97507	.	.	ENSG00000164684	ENST00000327835;ENST00000519936	.	.	.	5.9	5.9	0.94986	.	0.398960	0.25698	N	0.028898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-7.3765	18.4528	0.90710	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000331462:Q6X	Q	-	1	0	ZNF704	81896369	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.394000	0.73223	2.793000	0.96121	0.563000	0.77884	CAG		0.408	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		63	145	0	0	0	0	63	145				
E2F5	1875	broad.mit.edu	37	8	86114445	86114445	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:86114445G>A	ENST00000416274.2	+	2	332	c.298G>A	c.(298-300)Gga>Aga	p.G100R	E2F5_ENST00000256117.5_Missense_Mutation_p.G100R|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000418930.2_Missense_Mutation_p.G100R|E2F5_ENST00000519128.1_3'UTR	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	100					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TGTCTTAGAGGGAATTGACTT	0.388																																						uc003ycz.3		NA																	0				ovary(1)	1						c.(298-300)GGA>AGA		E2F transcription factor 5 isoform 1							91.0	85.0	87.0					8																	86114445		1861	4094	5955	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86114445G>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.298G>A	8.37:g.86114445G>A	ENSP00000398124:p.Gly100Arg					E2F5_uc003yda.3_Missense_Mutation_p.G100R|E2F5_uc010mab.2_5'UTR	p.G100R	NM_001951	NP_001942	Q15329	E2F5_HUMAN			2	335	+			100			Potential.|DEF box.		E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.298G>A	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367759	0.95900	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274	D;D;D	0.93811	-3.29;-3.29;-3.29	6.07	6.07	0.98685	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98510	0.9503	H	0.99273	4.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98905	1.0778	10	0.87932	D	0	-13.7351	20.6593	0.99626	0.0:0.0:1.0:0.0	.	100;100	Q15329-2;Q15329	.;E2F5_HUMAN	R	100	ENSP00000414312:G100R;ENSP00000256117:G100R;ENSP00000398124:G100R	ENSP00000256117:G100R	G	+	1	0	E2F5	86301697	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.845000	0.99498	2.885000	0.99019	0.655000	0.94253	GGA		0.388	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		4	42	0	0	0	0	4	42				
DCAF4L2	138009	broad.mit.edu	37	8	88885084	88885084	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:88885084G>A	ENST00000319675.3	-	1	1212	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	372										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGAAGCCCCCGAGGCGAGAAG	0.592																																						uc003ydz.2		NA																	0				ovary(1)	1						c.(1114-1116)CTC>CTT		WD repeat domain 21C							58.0	64.0	62.0					8																	88885084		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885084G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1116C>T	8.37:g.88885084G>A							p.L372L	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	1213	-			372						Silent	SNP	ENST00000319675.3	37	c.1116C>T	CCDS6245.1																																																																																				0.592	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		23	51	0	0	0	0	23	51				
MMP16	4325	broad.mit.edu	37	8	89179964	89179964	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:89179964C>T	ENST00000286614.6	-	4	924	c.643G>A	c.(643-645)Gga>Aga	p.G215R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	215					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CCTCCAATTCCTGGTCCAGGG	0.418																																						uc003yeb.3		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(643-645)GGA>AGA		matrix metalloproteinase 16 isoform 1							95.0	82.0	86.0					8																	89179964		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89179964C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.643G>A	8.37:g.89179964C>T	ENSP00000286614:p.Gly215Arg					MMP16_uc003yec.2_Missense_Mutation_p.G215R	p.G215R	NM_005941	NP_005932	P51512	MMP16_HUMAN			4	925	-			215			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.643G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197378	0.94960	.	.	ENSG00000156103	ENST00000286614	T	0.52983	0.64	5.5	5.5	0.81552	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.095308	0.64402	D	0.000001	T	0.74215	0.3687	M	0.88775	2.98	0.80722	D	1	D;D	0.64830	0.994;0.991	P;D	0.67382	0.818;0.951	T	0.78188	-0.2301	10	0.56958	D	0.05	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	215;215	P51512-2;P51512	.;MMP16_HUMAN	R	215	ENSP00000286614:G215R	ENSP00000286614:G215R	G	-	1	0	MMP16	89249080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.751000	0.85126	2.602000	0.87976	0.644000	0.83932	GGA		0.418	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		10	46	0	0	0	0	10	46				
GEM	2669	broad.mit.edu	37	8	95262787	95262787	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:95262787G>A	ENST00000297596.2	-	5	906	c.642C>T	c.(640-642)gaC>gaT	p.D214D	GEM_ENST00000396194.2_Silent_p.D214D	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	214					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGAACTTGCAGTCAAACACCA	0.562																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	uc003ygj.2		NA																	0				lung(1)	1						c.(640-642)GAC>GAT		GTP-binding mitogen-induced T-cell protein							48.0	42.0	44.0					8																	95262787		2203	4300	6503	SO:0001819	synonymous_variant	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95262787G>A		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.642C>T	8.37:g.95262787G>A						GEM_uc003ygi.2_Silent_p.D214D	p.D214D	NM_005261	NP_005252	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		5	891	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	214					B2RA31	Silent	SNP	ENST00000297596.2	37	c.642C>T	CCDS6261.1																																																																																				0.562	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		12	24	0	0	0	0	12	24				
ESRP1	54845	broad.mit.edu	37	8	95653671	95653671	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:95653671A>G	ENST00000433389.2	+	1	315	c.125A>G	c.(124-126)aAc>aGc	p.N42S	RP11-22C11.2_ENST00000562760.1_RNA|ESRP1_ENST00000423620.2_Missense_Mutation_p.N42S|ESRP1_ENST00000358397.5_Missense_Mutation_p.N42S|ESRP1_ENST00000454170.2_Missense_Mutation_p.N42S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	42					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GATCTGGCCAACAAGAAGGTA	0.522																																						uc003ygq.3		NA																ESRP1/RAF1(4)	0				prostate(4)	4						c.(124-126)AAC>AGC		RNA binding motif protein 35A isoform 1							93.0	93.0	93.0					8																	95653671		1926	4130	6056	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95653671A>G	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.125A>G	8.37:g.95653671A>G	ENSP00000405738:p.Asn42Ser					ESRP1_uc003ygr.3_Missense_Mutation_p.N42S|ESRP1_uc003ygs.3_Missense_Mutation_p.N42S|ESRP1_uc003ygt.3_Missense_Mutation_p.N42S|ESRP1_uc003ygu.3_Missense_Mutation_p.N42S	p.N42S	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			1	308	+			42					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.125A>G	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	A	4.443	0.082023	0.08533	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.95	3.81	0.43845	Ribonuclease H-like (1);	0.161766	0.52532	D	0.000068	T	0.20577	0.0495	N	0.16368	0.405	0.31989	N	0.604884	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.001;0.002;0.001	T	0.21449	-1.0245	10	0.05620	T	0.96	-3.7629	8.3602	0.32355	0.8484:0.0:0.1516:0.0	.	42;42;42;42;42	Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;ESRP1_HUMAN	S	42	ENSP00000407349:N42S;ENSP00000405738:N42S;ENSP00000351168:N42S;ENSP00000402766:N42S	ENSP00000351168:N42S	N	+	2	0	ESRP1	95722847	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.410000	0.34691	1.837000	0.53436	0.533000	0.62120	AAC		0.522	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		35	81	0	0	0	0	35	81				
CPQ	10404	broad.mit.edu	37	8	98155359	98155359	+	Missense_Mutation	SNP	C	C	T	rs371284775		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:98155359C>T	ENST00000220763.5	+	8	1577	c.1367C>T	c.(1366-1368)gCt>gTt	p.A456V	KB-1958F4.1_ENST00000602771.1_RNA	NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	456					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										GCTGTTTGGGCTGTTGTTTCT	0.443																																						uc003yhw.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1366-1368)GCT>GTT		plasma glutamate carboxypeptidase precursor							169.0	157.0	161.0					8																	98155359		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:98155359C>T	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.1367C>T	8.37:g.98155359C>T	ENSP00000220763:p.Ala456Val						p.A456V	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN			8	1533	+	Breast(36;1.86e-05)		456					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.1367C>T	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162788	0.78226	.	.	ENSG00000104324	ENST00000220763	T	0.64085	-0.08	5.93	5.93	0.95920	.	.	.	.	.	T	0.66066	0.2752	M	0.77406	2.37	0.45822	D	0.99869	P	0.36162	0.54	B	0.32762	0.152	T	0.70547	-0.4842	9	0.87932	D	0	-33.3446	19.3291	0.94278	0.0:1.0:0.0:0.0	.	456	Q9Y646	PGCP_HUMAN	V	456	ENSP00000220763:A456V	ENSP00000220763:A456V	A	+	2	0	AC010859.1	98224535	1.000000	0.71417	0.994000	0.49952	0.926000	0.56050	6.980000	0.76160	2.814000	0.96858	0.655000	0.94253	GCT		0.443	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		9	89	0	0	0	0	9	89				
TSPYL5	85453	broad.mit.edu	37	8	98289088	98289089	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:98289088_98289089GG>AA	ENST00000322128.3	-	1	1087_1088	c.984_985CC>TT	c.(982-987)atCCag>atTTag	p.Q329*		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	329					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGGAGCCACTGGATTGGAGTAG	0.495																																						uc003yhy.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(982-987)ATCCAG>ATTTAG		TSPY-like 5																																				SO:0001587	stop_gained	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289088_98289089GG>AA	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.984_985delinsAA	8.37:g.98289088_98289089delinsAA	ENSP00000322802:p.Gln329*						p.Q329*	NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN			1	1088_1089	-	Breast(36;2.56e-06)		329					B3KRF0|Q9C0B3	Nonsense_Mutation	DNP	ENST00000322128.3	37	c.984_985CC>TT	CCDS34927.1																																																																																				0.495	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		14	78	0	0	0	0	14	78				
SPAG1	6674	broad.mit.edu	37	8	101174571	101174571	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:101174571C>T	ENST00000388798.2	+	2	254	c.63C>T	c.(61-63)ccC>ccT	p.P21P	SPAG1_ENST00000251809.3_Silent_p.P21P|SPAG1_ENST00000520508.1_Silent_p.P21P|SPAG1_ENST00000520643.1_Silent_p.P21P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	21					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TCAAAATTCCCATTGAACATC	0.294																																						uc003yjh.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(61-63)CCC>CCT		sperm associated antigen 1							39.0	42.0	41.0					8																	101174571		2203	4296	6499	SO:0001819	synonymous_variant	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101174571C>T	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.63C>T	8.37:g.101174571C>T						SPAG1_uc003yjg.1_Silent_p.P21P|SPAG1_uc003yji.1_Silent_p.P21P	p.P21P	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	2	149	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	21					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Silent	SNP	ENST00000388798.2	37	c.63C>T	CCDS34930.1																																																																																				0.294	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		5	22	0	0	0	0	5	22				
GRHL2	79977	broad.mit.edu	37	8	102570885	102570885	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:102570885C>T	ENST00000251808.3	+	4	861	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	GRHL2_ENST00000395927.1_Missense_Mutation_p.P159S	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	175					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGTGCACTATCCCCGGGGAGA	0.562																																						uc010mbu.2		NA																	0				ovary(2)|skin(1)	3						c.(523-525)CCC>TCC		transcription factor CP2-like 3							83.0	76.0	79.0					8																	102570885		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102570885C>T	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.523C>T	8.37:g.102570885C>T	ENSP00000251808:p.Pro175Ser					GRHL2_uc011lhi.1_Missense_Mutation_p.P175S	p.P175S	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		4	853	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		175					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.523C>T	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	C	4.671	0.124680	0.08931	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.11063	2.81;2.82	5.33	2.5	0.30297	.	0.439740	0.26293	N	0.025205	T	0.06325	0.0163	L	0.34521	1.04	0.19300	N	0.999976	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.44544	-0.9321	10	0.08381	T	0.77	-3.8714	5.5111	0.16880	0.2045:0.3042:0.421:0.0703	.	175;175	B4DL28;Q6ISB3	.;GRHL2_HUMAN	S	175;159;175	ENSP00000251808:P175S;ENSP00000379260:P159S	ENSP00000251808:P175S	P	+	1	0	GRHL2	102640061	0.075000	0.21258	0.212000	0.23672	0.314000	0.28054	0.054000	0.14205	0.210000	0.20664	0.637000	0.83480	CCC		0.562	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		28	54	0	0	0	0	28	54				
UBR5	51366	broad.mit.edu	37	8	103310705	103310705	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:103310705C>T	ENST00000520539.1	-	26	3945	c.3339G>A	c.(3337-3339)ggG>ggA	p.G1113G	UBR5_ENST00000220959.4_Silent_p.G1113G|UBR5_ENST00000521922.1_Silent_p.G1107G	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1113					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATGGGGTCATCCCTCTTGCAT	0.308																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(3337-3339)GGG>GGA		ubiquitin protein ligase E3 component n-recognin							50.0	50.0	50.0					8																	103310705		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103310705C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3339G>A	8.37:g.103310705C>T						UBR5_uc003yks.1_Silent_p.G1113G	p.G1113G	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		26	3372	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1113					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.3339G>A	CCDS34933.1																																																																																				0.308	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		13	37	0	0	0	0	13	37				
ODF1	4956	broad.mit.edu	37	8	103573017	103573017	+	Missense_Mutation	SNP	C	C	T	rs568456031|rs386728346	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:103573017C>T	ENST00000285402.3	+	2	814	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	ODF1_ENST00000518835.1_Missense_Mutation_p.P13S	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	220	C-X-P repeat region.		Missing. {ECO:0000269|PubMed:8111388}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.C218_P226delCNPCSPCNP(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			cccctgcaacccctgcagccc	0.557																																						uc003ykt.2		NA																	1	Deletion - In frame(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(2)	2						c.(658-660)CCC>TCC		outer dense fiber of sperm tails 1							64.0	60.0	61.0					8																	103573017		2186	4222	6408	SO:0001583	missense	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103573017C>T	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.658C>T	8.37:g.103573017C>T	ENSP00000285402:p.Pro220Ser						p.P220S	NM_024410	NP_077721	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		2	766	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		220		Missing.	C-X-P repeat region.		Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	c.658C>T	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562406	0.27915	.	.	ENSG00000155087	ENST00000285402;ENST00000518835	D;T	0.93547	-3.24;-1.22	4.92	4.92	0.64577	.	0.000000	0.53938	D	0.000044	D	0.94555	0.8246	L	0.55213	1.73	0.39156	D	0.962317	D	0.57571	0.98	P	0.59424	0.857	D	0.95298	0.8401	10	0.87932	D	0	-13.5249	13.4801	0.61330	0.0:1.0:0.0:0.0	.	220	Q14990	ODFP1_HUMAN	S	220;13	ENSP00000285402:P220S;ENSP00000430023:P13S	ENSP00000285402:P220S	P	+	1	0	ODF1	103642193	0.919000	0.31177	0.974000	0.42286	0.043000	0.13939	3.573000	0.53856	2.570000	0.86706	0.650000	0.86243	CCC		0.557	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			20	71	0	0	0	0	20	71				
RIMS2	9699	broad.mit.edu	37	8	104940078	104940078	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:104940078C>T	ENST00000436393.2	+	9	1780	c.1539C>T	c.(1537-1539)agC>agT	p.S513S	RIMS2_ENST00000406091.3_Silent_p.S735S|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	810					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)			AGAGCCAAAGCCTTAGTAGAA	0.353										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.(1537-1539)AGC>AGT		regulating synaptic membrane exocytosis 2							61.0	56.0	58.0					8																	104940078		1819	4083	5902	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104940078C>T	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.1539C>T	8.37:g.104940078C>T		HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Silent_p.S735S|RIMS2_uc003ylw.2_Intron|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_Intron	p.S513S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		9	1780	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.1539C>T																																																																																					0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		8	21	0	0	0	0	8	21				
ABRA	137735	broad.mit.edu	37	8	107782215	107782215	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:107782215G>A	ENST00000311955.3	-	1	258	c.204C>T	c.(202-204)ccC>ccT	p.P68P		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTGAAGTAGGGGGTGTGATTG	0.587																																						uc003ymm.3		NA																	0				ovary(2)	2						c.(202-204)CCC>CCT		actin-binding Rho activating protein							102.0	101.0	101.0					8																	107782215		2203	4300	6503	SO:0001819	synonymous_variant	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782215G>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.204C>T	8.37:g.107782215G>A							p.P68P	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	258	-			68						Silent	SNP	ENST00000311955.3	37	c.204C>T	CCDS6305.1																																																																																				0.587	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		39	72	0	0	0	0	39	72				
TRHR	7201	broad.mit.edu	37	8	110131279	110131279	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:110131279C>T	ENST00000518632.1	+	3	1143	c.792C>T	c.(790-792)gtC>gtT	p.V264V	TRHR_ENST00000311762.2_Silent_p.V264V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	264					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTCCCTAGGTCACCAAGATGC	0.423																																						uc003ymz.3		NA																	0				skin(2)|lung(1)	3						c.(790-792)GTC>GTT		thyrotropin-releasing hormone receptor							228.0	223.0	225.0					8																	110131279		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131279C>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.792C>T	8.37:g.110131279C>T							p.V264V	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	808	+			264			Cytoplasmic (Potential).		Q2M339	Silent	SNP	ENST00000518632.1	37	c.792C>T	CCDS6311.1																																																																																				0.423	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			100	220	0	0	0	0	100	220				
PKHD1L1	93035	broad.mit.edu	37	8	110416808	110416808	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:110416808G>A	ENST00000378402.5	+	15	1503	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	467					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E469K(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTGCTGCAGGAGTACAGATT	0.308										HNSCC(38;0.096)																												uc003yne.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(1399-1401)GAG>AAG		fibrocystin L precursor							95.0	89.0	91.0					8																	110416808		1858	4102	5960	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110416808G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1399G>A	8.37:g.110416808G>A	ENSP00000367655:p.Glu467Lys	HNSCC(38;0.096)					p.E467K	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		15	1503	+			467			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1399G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760415	0.69763	.	.	ENSG00000205038	ENST00000378402	T	0.79247	-1.25	5.45	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.71298	0.3323	L	0.31065	0.9	0.36861	D	0.888396	P	0.49635	0.926	P	0.47891	0.56	T	0.76263	-0.3023	10	0.49607	T	0.09	.	11.6782	0.51442	0.0:0.1785:0.8215:0.0	.	467	Q86WI1	PKHL1_HUMAN	K	467	ENSP00000367655:E467K	ENSP00000367655:E467K	E	+	1	0	PKHD1L1	110485984	1.000000	0.71417	0.952000	0.39060	0.623000	0.37688	4.483000	0.60264	2.716000	0.92895	0.650000	0.86243	GAG		0.308	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		10	25	0	0	0	0	10	25				
PKHD1L1	93035	broad.mit.edu	37	8	110520013	110520013	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:110520013G>A	ENST00000378402.5	+	69	11220	c.11116G>A	c.(11116-11118)Gaa>Aaa	p.E3706K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3706					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCAGAATATGAATGGGACGG	0.433										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(11116-11118)GAA>AAA		fibrocystin L precursor							125.0	118.0	120.0					8																	110520013		1884	4115	5999	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110520013G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11116G>A	8.37:g.110520013G>A	ENSP00000367655:p.Glu3706Lys	HNSCC(38;0.096)					p.E3706K	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		69	11220	+			3706			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.11116G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964863	0.92791	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.87334	-2.24;-2.03	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.88603	0.6481	M	0.75615	2.305	0.42291	D	0.992131	P	0.40931	0.733	B	0.43123	0.409	D	0.88133	0.2839	10	0.37606	T	0.19	.	17.0142	0.86414	0.0:0.0:1.0:0.0	.	3706	Q86WI1	PKHL1_HUMAN	K	3706;634	ENSP00000367655:E3706K;ENSP00000437376:E634K	ENSP00000367655:E3706K	E	+	1	0	PKHD1L1	110589189	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.322000	0.90000	2.678000	0.91216	0.655000	0.94253	GAA		0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		20	117	0	0	0	0	20	117				
CSMD3	114788	broad.mit.edu	37	8	113299443	113299443	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:113299443T>C	ENST00000297405.5	-	58	9425	c.9181A>G	c.(9181-9183)Act>Gct	p.T3061A	CSMD3_ENST00000455883.2_Missense_Mutation_p.T2892A|CSMD3_ENST00000352409.3_Missense_Mutation_p.T2991A|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3021A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3061	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGCCGGGAGTACCTGGATCG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9181-9183)ACT>GCT		CUB and Sushi multiple domains 3 isoform 1							123.0	110.0	114.0					8																	113299443		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113299443T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9181A>G	8.37:g.113299443T>C	ENSP00000297405:p.Thr3061Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T2263A|CSMD3_uc003ynt.2_Missense_Mutation_p.T3021A|CSMD3_uc011lhx.1_Missense_Mutation_p.T2892A	p.T3061A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			58	9340	-			3061			Extracellular (Potential).|Sushi 22.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9181A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890080	0.33348	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.22	5.22	0.72569	Complement control module (2);Sushi/SCR/CCP (3);	0.657772	0.14307	N	0.327925	T	0.52484	0.1737	L	0.31120	0.905	0.22903	N	0.998584	B;B;B	0.21225	0.004;0.002;0.053	B;B;B	0.28916	0.009;0.006;0.096	T	0.35599	-0.9782	10	0.13108	T	0.6	.	15.4487	0.75257	0.0:0.0:0.0:1.0	.	2892;3061;3021	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3021;3061;2331;2892;2991	ENSP00000345799:T3021A;ENSP00000297405:T3061A;ENSP00000341558:T2331A;ENSP00000412263:T2892A;ENSP00000343124:T2991A	ENSP00000297405:T3061A	T	-	1	0	CSMD3	113368619	1.000000	0.71417	0.906000	0.35671	0.339000	0.28857	3.942000	0.56614	2.112000	0.64535	0.524000	0.50904	ACT		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	90	0	0	0	0	14	90				
CSMD3	114788	broad.mit.edu	37	8	113697955	113697955	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:113697955C>A	ENST00000297405.5	-	15	2406	c.2162G>T	c.(2161-2163)tGc>tTc	p.C721F	CSMD3_ENST00000455883.2_Missense_Mutation_p.C617F|CSMD3_ENST00000352409.3_Missense_Mutation_p.C721F|CSMD3_ENST00000343508.3_Missense_Mutation_p.C681F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	721	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C681Y(1)|p.C721Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTAGACAGGCAGGGAACTGG	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2161-2163)TGC>TTC		CUB and Sushi multiple domains 3 isoform 1							60.0	65.0	63.0					8																	113697955		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697955C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2162G>T	8.37:g.113697955C>A	ENSP00000297405:p.Cys721Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.C681F|CSMD3_uc011lhx.1_Missense_Mutation_p.C617F	p.C721F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2321	-			721			Extracellular (Potential).|CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2162G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208252	0.79240	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.72	5.72	0.89469	Complement control module (1);CUB (5);	0.000000	0.85682	D	0.000000	D	0.88683	0.6503	H	0.98996	4.395	0.58432	D	0.999998	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.91635	0.999;0.999;0.998	D	0.92817	0.6269	10	0.87932	D	0	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	617;721;681	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	681;721;61;617;721	ENSP00000345799:C681F;ENSP00000297405:C721F;ENSP00000341558:C61F;ENSP00000412263:C617F;ENSP00000343124:C721F	ENSP00000297405:C721F	C	-	2	0	CSMD3	113767131	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	TGC		0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	81	1	0	1.03e-11	1.06e-11	18	81				
CSMD3	114788	broad.mit.edu	37	8	113697958	113697958	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:113697958G>A	ENST00000297405.5	-	15	2403	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	CSMD3_ENST00000455883.2_Missense_Mutation_p.P616L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P720L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P680L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	720						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P720L(1)|p.P680L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGACAGGCAGGGAACTGGTGA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2158-2160)CCC>CTC		CUB and Sushi multiple domains 3 isoform 1							58.0	63.0	61.0					8																	113697958		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697958G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2159C>T	8.37:g.113697958G>A	ENSP00000297405:p.Pro720Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.P680L|CSMD3_uc011lhx.1_Missense_Mutation_p.P616L	p.P720L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2318	-			720			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2159C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205585	0.79127	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.72	5.72	0.89469	CUB (1);Complement control module (2);	0.000000	0.64402	D	0.000002	T	0.41789	0.1174	L	0.45744	1.44	0.80722	D	1	D;D;B	0.89917	0.995;1.0;0.296	D;D;B	0.91635	0.991;0.999;0.132	T	0.02009	-1.1230	10	0.27785	T	0.31	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	616;720;680	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	680;720;60;616;720	ENSP00000345799:P680L;ENSP00000297405:P720L;ENSP00000341558:P60L;ENSP00000412263:P616L;ENSP00000343124:P720L	ENSP00000297405:P720L	P	-	2	0	CSMD3	113767134	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.711000	0.92665	0.655000	0.94253	CCC		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		15	78	0	0	0	0	15	78				
CSMD3	114788	broad.mit.edu	37	8	114326862	114326862	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:114326862T>C	ENST00000297405.5	-	2	583	c.339A>G	c.(337-339)gaA>gaG	p.E113E	CSMD3_ENST00000455883.2_Silent_p.E113E|CSMD3_ENST00000352409.3_Silent_p.E113E|CSMD3_ENST00000343508.3_Silent_p.E73E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	113	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGTATTCTTCTTCTAGAGCAA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(337-339)GAA>GAG		CUB and Sushi multiple domains 3 isoform 1							151.0	143.0	146.0					8																	114326862		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114326862T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.339A>G	8.37:g.114326862T>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Silent_p.E73E|CSMD3_uc011lhx.1_Silent_p.E113E|CSMD3_uc010mcx.1_Silent_p.E113E|CSMD3_uc003ynx.3_Silent_p.E113E	p.E113E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	498	-			113			Extracellular (Potential).|CUB 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.339A>G	CCDS6315.1																																																																																				0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		44	91	0	0	0	0	44	91				
MED30	90390	broad.mit.edu	37	8	118542972	118542972	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:118542972C>T	ENST00000297347.3	+	3	511	c.347C>T	c.(346-348)cCa>cTa	p.P116L	MED30_ENST00000522839.1_Intron	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	116					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CAACTTATTCCATATGTGGAA	0.348																																					Melanoma(81;817 1341 9674 26244 29255)	uc003yoj.2		NA																	0					0						c.(346-348)CCA>CTA		TRAP/Mediator complex component TRAP25							57.0	56.0	56.0					8																	118542972		2202	4300	6502	SO:0001583	missense	90390				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr8:118542972C>T	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.347C>T	8.37:g.118542972C>T	ENSP00000297347:p.Pro116Leu					MED30_uc011lib.1_Intron	p.P116L	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	STAD - Stomach adenocarcinoma(47;0.0266)		3	498	+	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		116					C6GKU9	Missense_Mutation	SNP	ENST00000297347.3	37	c.347C>T	CCDS6323.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844288	0.91197	.	.	ENSG00000164758	ENST00000297347	.	.	.	6.06	6.06	0.98353	Mediator complex, subunit Med30, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.79420	-0.1811	9	0.72032	D	0.01	-1.4975	19.6164	0.95636	0.0:1.0:0.0:0.0	.	116	Q96HR3	MED30_HUMAN	L	116	.	ENSP00000297347:P116L	P	+	2	0	MED30	118612153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.561000	0.73955	2.871000	0.98454	0.655000	0.94253	CCA		0.348	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		15	35	0	0	0	0	15	35				
TNFRSF11B	4982	broad.mit.edu	37	8	119945375	119945375	+	Silent	SNP	G	G	A	rs531660121		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:119945375G>A	ENST00000297350.4	-	2	573	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	65					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			AGTGGTCAGGGCAAGGGGCGC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		20991	0.0		0.0	False		,,,				2504	0.001					uc003yon.3		NA																	0				central_nervous_system(2)	2						c.(193-195)TGC>TGT		osteoprotegerin precursor							267.0	236.0	247.0					8																	119945375		2203	4300	6503	SO:0001819	synonymous_variant	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119945375G>A	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.195C>T	8.37:g.119945375G>A						TNFRSF11B_uc010mdc.1_RNA	p.C65C	NM_002546	NP_002537	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		2	518	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		65			TNFR-Cys 2.		B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	c.195C>T	CCDS6326.1																																																																																				0.527	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			84	174	0	0	0	0	84	174				
MAL2	114569	broad.mit.edu	37	8	120252438	120252438	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:120252438T>C	ENST00000276681.6	+	4	439	c.337T>C	c.(337-339)Tat>Cat	p.Y113H	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	113	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			ATTTGTCTTCTATTTTGGAGC	0.358																																						uc003yop.2		NA																	0					0						c.(337-339)TAT>CAT		MAL2 proteolipid protein							99.0	96.0	97.0					8																	120252438		1860	4106	5966	SO:0001583	missense	114569					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding	g.chr8:120252438T>C	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.337T>C	8.37:g.120252438T>C	ENSP00000475434:p.Tyr113His						p.Y113H	NM_052886	NP_443118	Q969L2	MAL2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000967)		4	439	+	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		113			MARVEL.|Helical; (Potential).		B2R520|Q6ZMD9	Missense_Mutation	SNP	ENST00000276681.6	37	c.337T>C																																																																																					0.358	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		39	79	0	0	0	0	39	79				
COL14A1	7373	broad.mit.edu	37	8	121381580	121381580	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:121381580G>A	ENST00000297848.3	+	47	5437	c.5167G>A	c.(5167-5169)Gag>Aag	p.E1723K	COL14A1_ENST00000247781.3_Missense_Mutation_p.E1628K|COL14A1_ENST00000309791.4_Missense_Mutation_p.E1723K	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCTTCAGGGGAGAGTCGGCC	0.562																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(5167-5169)GAG>AAG		collagen, type XIV, alpha 1 precursor							47.0	51.0	50.0					8																	121381580		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121381580G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.5167G>A	8.37:g.121381580G>A	ENSP00000297848:p.Glu1723Lys					COL14A1_uc003yoz.2_Missense_Mutation_p.E688K	p.E1723K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		47	5432	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1723			Triple-helical region 2 (COL1).			Missense_Mutation	SNP	ENST00000297848.3	37	c.5167G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584104	0.86748	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000440844	D;D;D;D	0.94184	-2.23;-2.27;-3.24;-3.37	4.84	4.84	0.62591	.	0.179938	0.47093	D	0.000246	D	0.87481	0.6188	L	0.31065	0.9	0.80722	D	1	P	0.43094	0.799	B	0.35931	0.214	D	0.86122	0.1569	10	0.13108	T	0.6	.	18.4389	0.90658	0.0:0.0:1.0:0.0	.	1723	Q05707	COEA1_HUMAN	K	1723;1723;1628;70	ENSP00000311809:E1723K;ENSP00000297848:E1723K;ENSP00000247781:E1628K;ENSP00000403640:E70K	ENSP00000247781:E1628K	E	+	1	0	COL14A1	121450761	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.823000	0.69272	2.618000	0.88619	0.561000	0.74099	GAG		0.562	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		10	88	0	0	0	0	10	88				
HAS2	3037	broad.mit.edu	37	8	122626849	122626849	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:122626849G>A	ENST00000303924.4	-	4	1696	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	387					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGAAAGAAAGGAAAGAATCCA	0.423																																						uc003yph.2		NA																HAS2/PLAG1(10)	0				soft_tissue(10)|ovary(5)	15						c.(1159-1161)CCT>TCT		hyaluronan synthase 2							147.0	134.0	139.0					8																	122626849		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626849G>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1159C>T	8.37:g.122626849G>A	ENSP00000306991:p.Pro387Ser						p.P387S	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1697	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		387			Helical; Name=3; (Potential).		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1159C>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972902	0.74246	.	.	ENSG00000170961	ENST00000303924	T	0.58940	0.3	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.81093	0.4751	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81872	-0.0733	10	0.59425	D	0.04	-13.6952	20.5792	0.99380	0.0:0.0:1.0:0.0	.	387	Q92819	HAS2_HUMAN	S	387	ENSP00000306991:P387S	ENSP00000306991:P387S	P	-	1	0	HAS2	122696030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.856000	0.99531	2.873000	0.98535	0.561000	0.74099	CCT		0.423	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		12	105	0	0	0	0	12	105				
SQLE	6713	broad.mit.edu	37	8	126011730	126011730	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:126011730C>T	ENST00000265896.5	+	1	983	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	SQLE_ENST00000523430.1_Intron|RP11-6D1.3_ENST00000523030.1_RNA	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	29					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	CAGGGAGGTCCTGTTGTGCGT	0.572																																						uc011liq.1		NA																	0				ovary(1)|breast(1)	2						c.(85-87)CTG>TTG		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						63.0	67.0	66.0					8																	126011730		2010	4169	6179	SO:0001819	synonymous_variant	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126011730C>T	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.85C>T	8.37:g.126011730C>T							p.L29L	NM_003129	NP_003120	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		1	1011	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		29			Helical; (Potential).		Q9UEK6	Silent	SNP	ENST00000265896.5	37	c.85C>T	CCDS47918.1																																																																																				0.572	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		10	29	0	0	0	0	10	29				
ADCY8	114	broad.mit.edu	37	8	131792678	131792678	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:131792678A>G	ENST00000286355.5	-	18	5806	c.3714T>C	c.(3712-3714)ccT>ccC	p.P1238P	ADCY8_ENST00000377928.3_Silent_p.P1107P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1238					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)|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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTGGGCTCCAGGCTCTGTGC	0.408										HNSCC(32;0.087)																												uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3712-3714)CCT>CCC		adenylate cyclase 8							124.0	116.0	119.0					8																	131792678		2203	4300	6503	SO:0001819	synonymous_variant	114				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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792678A>G	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3714T>C	8.37:g.131792678A>G		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.P1107P	p.P1238P	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	3970	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1238			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.3714T>C	CCDS6363.1																																																																																				0.408	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			42	62	0	0	0	0	42	62				
ADCY8	114	broad.mit.edu	37	8	131797639	131797639	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:131797639G>A	ENST00000286355.5	-	16	5235	c.3143C>T	c.(3142-3144)cCt>cTt	p.P1048L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P917L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1048					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)|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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGTTTTTCAGGTGACAGGCC	0.498										HNSCC(32;0.087)																												uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3142-3144)CCT>CTT		adenylate cyclase 8							109.0	89.0	96.0					8																	131797639		2203	4300	6503	SO:0001583	missense	114				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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131797639G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3143C>T	8.37:g.131797639G>A	ENSP00000286355:p.Pro1048Leu	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.P917L	p.P1048L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		16	3399	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1048			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.3143C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082275	0.94050	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.27557	1.66;1.66	5.07	5.07	0.68467	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	L	0.45698	1.435	0.58432	D	0.999998	D;D	0.76494	0.996;0.999	D;D	0.83275	0.991;0.996	T	0.47586	-0.9106	10	0.54805	T	0.06	.	17.8033	0.88595	0.0:0.0:1.0:0.0	.	917;1048	E7EVL1;P40145	.;ADCY8_HUMAN	L	1048;917	ENSP00000286355:P1048L;ENSP00000367161:P917L	ENSP00000286355:P1048L	P	-	2	0	ADCY8	131866821	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.807000	0.99171	2.535000	0.85469	0.591000	0.81541	CCT		0.498	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			13	80	0	0	0	0	13	80				
EFR3A	23167	broad.mit.edu	37	8	132982751	132982751	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:132982751C>T	ENST00000254624.5	+	10	1245	c.1020C>T	c.(1018-1020)acC>acT	p.T340T	EFR3A_ENST00000519656.1_Silent_p.T304T|EFR3A_ENST00000334503.4_Silent_p.T340T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	340						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCTTCAATACCCTTTTGAAAC	0.383																																						uc003yte.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1018-1020)ACC>ACT		EFR3 homolog A							92.0	83.0	86.0					8																	132982751		2203	4300	6503	SO:0001819	synonymous_variant	23167					plasma membrane	binding	g.chr8:132982751C>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1020C>T	8.37:g.132982751C>T							p.T340T	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		10	1221	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		340					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	c.1020C>T	CCDS34942.2																																																																																				0.383	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		18	33	0	0	0	0	18	33				
EFR3A	23167	broad.mit.edu	37	8	132999915	132999915	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:132999915G>A	ENST00000254624.5	+	18	2256	c.2031G>A	c.(2029-2031)gaG>gaA	p.E677E	EFR3A_ENST00000519656.1_Silent_p.E641E|EFR3A_ENST00000334503.4_Silent_p.E677E	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	677						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATAGTGTTGAGAGATTGTCAG	0.373																																						uc003yte.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(2029-2031)GAG>GAA		EFR3 homolog A							104.0	85.0	92.0					8																	132999915		2201	4300	6501	SO:0001819	synonymous_variant	23167					plasma membrane	binding	g.chr8:132999915G>A	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.2031G>A	8.37:g.132999915G>A							p.E677E	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		18	2232	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		677					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	c.2031G>A	CCDS34942.2																																																																																				0.373	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		5	12	0	0	0	0	5	12				
TG	7038	broad.mit.edu	37	8	133899039	133899039	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:133899039G>A	ENST00000220616.4	+	9	1462	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	TG_ENST00000377869.1_Silent_p.G474G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	474					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTTTGGAGGGAAATTTTTGG	0.468																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(1420-1422)GGG>GGA		thyroglobulin precursor							70.0	75.0	73.0					8																	133899039		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899039G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1422G>A	8.37:g.133899039G>A							p.G474G	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1463	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	474					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.1422G>A	CCDS34944.1																																																																																				0.468	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		17	108	0	0	0	0	17	108				
TG	7038	broad.mit.edu	37	8	133984060	133984060	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:133984060G>A	ENST00000220616.4	+	33	6037	c.5997G>A	c.(5995-5997)cgG>cgA	p.R1999R	TG_ENST00000519543.1_Silent_p.R153R|TG_ENST00000542445.1_Silent_p.R369R|TG_ENST00000377869.1_Silent_p.R1942R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1999			R -> W (in dbSNP:rs2076740). {ECO:0000269|PubMed:10199792}.		hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGAACGACGGTGCGATGCGG	0.498																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(5995-5997)CGG>CGA		thyroglobulin precursor							133.0	118.0	123.0					8																	133984060		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133984060G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5997G>A	8.37:g.133984060G>A						TG_uc010mdw.2_Silent_p.R758R|TG_uc011ljb.1_Silent_p.R368R|TG_uc011ljc.1_Silent_p.R153R	p.R1999R	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	33	6038	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1999			Type IIIB.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.5997G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	0.147	-1.095480	0.01858	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.55	1.36	0.22044	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.50632	D	0.999884	.	.	.	.	.	.	T	0.47471	-0.9115	4	.	.	.	.	8.3788	0.32459	0.0882:0.4801:0.4317:0.0	.	.	.	.	M	455	.	.	V	+	1	0	TG	134053242	0.003000	0.15002	0.218000	0.23776	0.030000	0.12068	-0.258000	0.08733	0.259000	0.21709	-0.140000	0.14226	GTG		0.498	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		22	35	0	0	0	0	22	35				
TG	7038	broad.mit.edu	37	8	134144090	134144090	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:134144090G>A	ENST00000220616.4	+	46	7937	c.7897G>A	c.(7897-7899)Ggg>Agg	p.G2633R	TG_ENST00000519543.1_Missense_Mutation_p.G766R|TG_ENST00000542445.1_Missense_Mutation_p.G1003R|TG_ENST00000377869.1_Missense_Mutation_p.G2576R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2633					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTGCCTTGGGGCTTCCCTT	0.488																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7897-7899)GGG>AGG		thyroglobulin precursor							82.0	81.0	81.0					8																	134144090		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134144090G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7897G>A	8.37:g.134144090G>A	ENSP00000220616:p.Gly2633Arg					TG_uc010mdw.2_Missense_Mutation_p.G1392R|TG_uc011ljb.1_Missense_Mutation_p.G1002R|TG_uc011ljc.1_Missense_Mutation_p.G766R	p.G2633R	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	46	7938	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2633					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7897G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.212618|4.212618	0.79240|0.79240	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.63913	.|-0.07;-0.07;-0.07;-0.07	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Carboxylesterase, type B (1);	0.000000|0.000000	0.64402|0.64402	D|D	0.000005|0.000005	D|D	0.83903|0.83903	0.5355|0.5355	M|M	0.92923|0.92923	3.36|3.36	0.44061|0.44061	D|D	0.9968|0.9968	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.87874|0.87874	0.2673|0.2673	6|10	.|0.87932	.|D	.|0	.|.	16.4836|16.4836	0.84171|0.84171	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|766;1003;2633	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	E|R	1088|2576;1439;2633;1003;766	.|ENSP00000367100:G2576R;ENSP00000220616:G2633R;ENSP00000441693:G1003R;ENSP00000430430:G766R	.|ENSP00000220616:G2633R	G|G	+|+	2|1	0|0	TG|TG	134213272|134213272	1.000000|1.000000	0.71417|0.71417	0.927000|0.927000	0.36925|0.36925	0.833000|0.833000	0.47200|0.47200	6.655000|6.655000	0.74392|0.74392	2.492000|2.492000	0.84095|0.84095	0.491000|0.491000	0.48974|0.48974	GGG|GGG		0.488	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		33	61	0	0	0	0	33	61				
TG	7038	broad.mit.edu	37	8	134147017	134147017	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:134147017C>T	ENST00000220616.4	+	48	8326	c.8286C>T	c.(8284-8286)ggC>ggT	p.G2762G	TG_ENST00000519543.1_Silent_p.G895G|TG_ENST00000542445.1_Silent_p.G1132G|TG_ENST00000377869.1_Silent_p.G2705G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2762					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGAACCAGGCTCTAAGACCT	0.537																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(8284-8286)GGC>GGT		thyroglobulin precursor							90.0	77.0	82.0					8																	134147017		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134147017C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8286C>T	8.37:g.134147017C>T						TG_uc010mdw.2_Silent_p.G1521G|TG_uc011ljb.1_Silent_p.G1131G|TG_uc011ljc.1_Silent_p.G895G	p.G2762G	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	48	8327	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2762					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.8286C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	8.042	0.764107	0.15914	.	.	ENSG00000042832	ENST00000519178	.	.	.	4.16	1.36	0.22044	.	.	.	.	.	T	0.25754	0.0627	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22487	-1.0215	4	.	.	.	.	5.6039	0.17369	0.0:0.6483:0.0:0.3517	.	.	.	.	F	1218	.	.	L	+	1	0	TG	134216199	0.013000	0.17824	0.162000	0.22713	0.454000	0.32378	-0.106000	0.10890	0.521000	0.28445	0.205000	0.17691	CTC		0.537	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		18	24	0	0	0	0	18	24				
FAM135B	51059	broad.mit.edu	37	8	139158208	139158208	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139158208C>T	ENST00000395297.1	-	15	3704	c.3534G>A	c.(3532-3534)aaG>aaA	p.K1178K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1178										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATACCTGATTCTTTTCAGACA	0.428										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(3532-3534)AAG>AAA		hypothetical protein LOC51059							76.0	79.0	78.0					8																	139158208		2203	4300	6503	SO:0001819	synonymous_variant	51059							g.chr8:139158208C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3534G>A	8.37:g.139158208C>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.K1079K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.K740K|FAM135B_uc003yvb.2_3'UTR	p.K1178K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		15	3705	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1178					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3534G>A	CCDS6375.2																																																																																				0.428	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		16	130	0	0	0	0	16	130				
FAM135B	51059	broad.mit.edu	37	8	139164563	139164563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139164563G>A	ENST00000395297.1	-	13	2325	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	719										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGTCTTCGAACAAACGGG	0.567										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(2155-2157)CGA>TGA		hypothetical protein LOC51059							44.0	45.0	45.0					8																	139164563		1971	4147	6118	SO:0001587	stop_gained	51059							g.chr8:139164563G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2155C>T	8.37:g.139164563G>A	ENSP00000378710:p.Arg719*	HNSCC(54;0.14)				FAM135B_uc003yux.2_Nonsense_Mutation_p.R620*|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Nonsense_Mutation_p.R281*|FAM135B_uc003yvb.2_Nonsense_Mutation_p.R281*	p.R719*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2326	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		719					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.2155C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	39	7.446108	0.98289	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.65	3.65	0.41850	.	0.337294	0.28983	N	0.013506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0874	14.3674	0.66815	0.0:0.0:0.6697:0.3303	.	.	.	.	X	719	.	ENSP00000276737:R719X	R	-	1	2	FAM135B	139233745	0.034000	0.19679	0.031000	0.17742	0.317000	0.28152	1.080000	0.30779	1.376000	0.46267	0.655000	0.94253	CGA		0.567	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		8	44	0	0	0	0	8	44				
FAM135B	51059	broad.mit.edu	37	8	139164907	139164907	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139164907G>A	ENST00000395297.1	-	13	1981	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	604										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAAGAGATGGCATTTTGGTG	0.458										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(1810-1812)GCC>GTC		hypothetical protein LOC51059							178.0	171.0	173.0					8																	139164907		1910	4130	6040	SO:0001583	missense	51059							g.chr8:139164907G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1811C>T	8.37:g.139164907G>A	ENSP00000378710:p.Ala604Val	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.A505V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A166V|FAM135B_uc003yvb.2_Missense_Mutation_p.A166V	p.A604V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1982	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		604					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1811C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	9.939	1.216898	0.22373	.	.	ENSG00000147724	ENST00000395297	T	0.14640	2.49	5.54	4.48	0.54585	.	0.399635	0.26407	N	0.024554	T	0.13200	0.0320	L	0.51422	1.61	0.09310	N	1	B;B;B	0.24533	0.105;0.01;0.001	B;B;B	0.27715	0.082;0.017;0.001	T	0.11717	-1.0576	10	0.26408	T	0.33	-10.404	9.4504	0.38723	0.0872:0.0:0.7558:0.157	.	604;604;604	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	V	604	ENSP00000378710:A604V	ENSP00000276737:A604V	A	-	2	0	FAM135B	139234089	0.005000	0.15991	0.210000	0.23637	0.044000	0.14063	0.911000	0.28584	2.615000	0.88500	0.655000	0.94253	GCC		0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		27	200	0	0	0	0	27	200				
FAM135B	51059	broad.mit.edu	37	8	139165102	139165102	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139165102C>T	ENST00000395297.1	-	13	1786	c.1616G>A	c.(1615-1617)aGg>aAg	p.R539K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	539										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCTGGACTCCTTCTAGAAGT	0.498										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(1615-1617)AGG>AAG		hypothetical protein LOC51059							81.0	79.0	80.0					8																	139165102		1952	4153	6105	SO:0001583	missense	51059							g.chr8:139165102C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1616G>A	8.37:g.139165102C>T	ENSP00000378710:p.Arg539Lys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.R440K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R101K|FAM135B_uc003yvb.2_Missense_Mutation_p.R101K	p.R539K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1787	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		539					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1616G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	9.347	1.064644	0.20067	.	.	ENSG00000147724	ENST00000395297	T	0.14266	2.52	5.21	1.04	0.20106	.	1.058520	0.07226	N	0.861764	T	0.10723	0.0262	L	0.41236	1.265	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.0	B;B;B	0.13407	0.006;0.009;0.001	T	0.42015	-0.9476	10	0.06625	T	0.88	-7.4875	9.1155	0.36755	0.0:0.5337:0.0:0.4663	.	539;539;539	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	K	539	ENSP00000378710:R539K	ENSP00000276737:R539K	R	-	2	0	FAM135B	139234284	0.000000	0.05858	0.059000	0.19551	0.571000	0.35966	-0.043000	0.12043	0.224000	0.20940	0.561000	0.74099	AGG		0.498	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		10	66	0	0	0	0	10	66				
COL22A1	169044	broad.mit.edu	37	8	139890021	139890021	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139890021C>T	ENST00000303045.6	-	3	1076	c.630G>A	c.(628-630)cgG>cgA	p.R210R	COL22A1_ENST00000435777.1_Silent_p.R210R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	210	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCAGCTTGCCCCGGATCTTGT	0.662										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(628-630)CGG>CGA		collagen, type XXII, alpha 1							36.0	37.0	36.0					8																	139890021		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890021C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.630G>A	8.37:g.139890021C>T		HNSCC(7;0.00092)					p.R210R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	1077	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		210			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.630G>A	CCDS6376.1																																																																																				0.662	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		21	45	0	0	0	0	21	45				
MROH5	389690	broad.mit.edu	37	8	142500263	142500263	+	RNA	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:142500263G>A	ENST00000430863.1	-	0	731					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TTCTGTGTGGGAAGACGCCCG	0.642																																						uc003ywi.2		NA																	0					0						c.(649-651)TTC>TTT		hypothetical protein LOC389690							28.0	36.0	33.0					8																	142500263		2054	4189	6243			389690						binding	g.chr8:142500263G>A			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142500263G>A						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.F217F	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		5	732	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		217						Silent	SNP	ENST00000430863.1	37	c.651C>T																																																																																					0.642	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		6	29	0	0	0	0	6	29				
MROH5	389690	broad.mit.edu	37	8	142506435	142506435	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:142506435C>T	ENST00000430863.1	-	0	327					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CTGTAGGCTTCCCCCATGAAC	0.637																																						uc003ywi.2		NA																	0					0						c.(247-249)GAA>AAA		hypothetical protein LOC389690							88.0	89.0	89.0					8																	142506435		2158	4245	6403			389690						binding	g.chr8:142506435C>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142506435C>T						FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	p.E83K	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	328	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		83						Missense_Mutation	SNP	ENST00000430863.1	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	C	13.43	2.233627	0.39498	.	.	ENSG00000226807	ENST00000521161	.	.	.	4.37	3.49	0.39957	.	.	.	.	.	T	0.33118	0.0852	N	0.24115	0.695	.	.	.	P	0.49961	0.93	P	0.46758	0.526	T	0.45804	-0.9236	7	0.72032	D	0.01	.	7.8927	0.29688	0.0:0.8867:0.0:0.1133	.	83	Q6ZUA9	.	K	48	.	ENSP00000431031:E83K	E	-	1	0	AC100803.1	142575617	0.964000	0.33143	0.986000	0.45419	0.011000	0.07611	1.104000	0.31074	1.047000	0.40274	0.561000	0.74099	GAA		0.637	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		20	28	0	0	0	0	20	28				
FAM83H	286077	broad.mit.edu	37	8	144808904	144808904	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144808904G>A	ENST00000388913.3	-	5	2852	c.2727C>T	c.(2725-2727)ccC>ccT	p.P909P		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	909					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTGCGCTCGGGGTAGGCTG	0.677																																						uc003yzk.2		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2725-2727)CCC>CCT		FAM83H							12.0	13.0	13.0					8																	144808904		1900	4096	5996	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144808904G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2727C>T	8.37:g.144808904G>A						FAM83H_uc010mfk.1_RNA	p.P909P	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	2796	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		909					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.2727C>T	CCDS6410.2																																																																																				0.677	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		5	16	0	0	0	0	5	16				
EPPK1	83481	broad.mit.edu	37	8	144940361	144940361	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144940361C>T	ENST00000525985.1	-	2	7132	c.7061G>A	c.(7060-7062)aGc>aAc	p.S2354N				P58107	EPIPL_HUMAN	epiplakin 1	2354						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACGCGGTGGCTGTGCACGGG	0.687																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(15070-15072)AGC>AAC		epiplakin 1							192.0	186.0	188.0					8																	144940361		2163	4227	6390	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940361C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7061G>A	8.37:g.144940361C>T	ENSP00000436337:p.Ser2354Asn						p.S5024N	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15084	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5024			Plectin 64.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.15071G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.330655	0.95733	.	.	ENSG00000227184	ENST00000525985	T	0.72942	-0.7	4.39	4.39	0.52855	.	.	.	.	.	T	0.81875	0.4915	M	0.71581	2.175	0.45662	D	0.998585	D	0.76494	0.999	D	0.79784	0.993	T	0.81123	-0.1076	9	0.37606	T	0.19	.	14.9269	0.70887	0.0:1.0:0.0:0.0	.	2354	E9PPU0	.	N	2354	ENSP00000436337:S2354N	ENSP00000436337:S2354N	S	-	2	0	EPPK1	145012349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.509000	0.81698	2.451000	0.82905	0.586000	0.80456	AGC		0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		20	472	0	0	0	0	20	472				
EPPK1	83481	broad.mit.edu	37	8	144941347	144941347	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144941347G>A	ENST00000525985.1	-	2	6146	c.6075C>T	c.(6073-6075)ctC>ctT	p.L2025L				P58107	EPIPL_HUMAN	epiplakin 1	2025						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTTCCAGTGGGAGCCGGTGGT	0.602																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(6073-6075)CTC>CTT		epiplakin 1							54.0	59.0	58.0					8																	144941347		2126	4240	6366	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941347G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6075C>T	8.37:g.144941347G>A							p.L2025L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6088	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2025			Plectin 34.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6075C>T																																																																																					0.602	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		7	55	0	0	0	0	7	55				
PLEC	5339	broad.mit.edu	37	8	144999724	144999724	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144999724C>T	ENST00000322810.4	-	31	4953	c.4784G>A	c.(4783-4785)cGc>cAc	p.R1595H	PLEC_ENST00000398774.2_Missense_Mutation_p.R1426H|PLEC_ENST00000356346.3_Missense_Mutation_p.R1444H|PLEC_ENST00000357649.2_Missense_Mutation_p.R1462H|PLEC_ENST00000354958.2_Missense_Mutation_p.R1436H|PLEC_ENST00000527096.1_Missense_Mutation_p.R1481H|PLEC_ENST00000354589.3_Missense_Mutation_p.R1458H|PLEC_ENST00000345136.3_Missense_Mutation_p.R1458H|PLEC_ENST00000436759.2_Missense_Mutation_p.R1485H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1595	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAACTGCAGGCGCACCACGCG	0.721																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(4783-4785)CGC>CAC		plectin isoform 1							6.0	7.0	7.0					8																	144999724		1885	3934	5819	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144999724C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4784G>A	8.37:g.144999724C>T	ENSP00000323856:p.Arg1595His					PLEC_uc003zab.1_Missense_Mutation_p.R1458H|PLEC_uc003zac.1_Missense_Mutation_p.R1462H|PLEC_uc003zad.2_Missense_Mutation_p.R1458H|PLEC_uc003zae.1_Missense_Mutation_p.R1426H|PLEC_uc003zag.1_Missense_Mutation_p.R1436H|PLEC_uc003zah.2_Missense_Mutation_p.R1444H|PLEC_uc003zaj.2_Missense_Mutation_p.R1485H	p.R1595H	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	4954	-			1595			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.4784G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.003046	0.35320	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.26660	1.72;1.9;1.72;1.9;1.9;1.9;1.9;1.72;1.72	4.44	4.44	0.53790	.	0.090347	0.41712	U	0.000830	T	0.46580	0.1400	L	0.55990	1.75	0.51012	D	0.999901	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.70487	0.969;0.969;0.969;0.931;0.969;0.969;0.969;0.969	T	0.49504	-0.8933	10	0.72032	D	0.01	.	17.0208	0.86433	0.0:1.0:0.0:0.0	.	1485;1444;1436;1595;1426;1458;1462;1458	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	1458;1462;1458;1426;1595;1436;1444;1485;1481	ENSP00000344848:R1458H;ENSP00000350277:R1462H;ENSP00000346602:R1458H;ENSP00000381756:R1426H;ENSP00000323856:R1595H;ENSP00000347044:R1436H;ENSP00000348702:R1444H;ENSP00000388180:R1485H;ENSP00000434583:R1481H	ENSP00000323856:R1595H	R	-	2	0	PLEC	145071712	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	3.064000	0.49986	2.168000	0.68352	0.448000	0.29417	CGC		0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	6	0	0	0	0	4	6				
PLEC	5339	broad.mit.edu	37	8	145001818	145001818	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:145001818C>T	ENST00000322810.4	-	27	4096	c.3927G>A	c.(3925-3927)gtG>gtA	p.V1309V	PLEC_ENST00000398774.2_Silent_p.V1140V|PLEC_ENST00000356346.3_Silent_p.V1158V|PLEC_ENST00000357649.2_Silent_p.V1176V|PLEC_ENST00000354958.2_Silent_p.V1150V|PLEC_ENST00000527096.1_Silent_p.V1195V|PLEC_ENST00000354589.3_Silent_p.V1172V|PLEC_ENST00000345136.3_Silent_p.V1172V|PLEC_ENST00000436759.2_Silent_p.V1199V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1309	Globular 1.			V -> L (in Ref. 2; AAB05427/AAB05428). {ECO:0000305}.	apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCCACCTCCACGTCCCGCT	0.731																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(3925-3927)GTG>GTA		plectin isoform 1							5.0	6.0	6.0					8																	145001818		1958	3929	5887	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145001818C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3927G>A	8.37:g.145001818C>T						PLEC_uc003zab.1_Silent_p.V1172V|PLEC_uc003zac.1_Silent_p.V1176V|PLEC_uc003zad.2_Silent_p.V1172V|PLEC_uc003zae.1_Silent_p.V1140V|PLEC_uc003zag.1_Silent_p.V1150V|PLEC_uc003zah.2_Silent_p.V1158V|PLEC_uc003zaj.2_Silent_p.V1199V	p.V1309V	NM_201380	NP_958782	Q15149	PLEC_HUMAN			27	4097	-			1309	V -> L (in Ref. 2; AAB05427/AAB05428).		Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.3927G>A	CCDS43772.1																																																																																				0.731	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	4	0	0	0	0	4	4				
MFSD3	113655	broad.mit.edu	37	8	145735387	145735387	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:145735387C>T	ENST00000301327.4	+	1	931	c.671C>T	c.(670-672)aCc>aTc	p.T224I	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'Flank	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	224	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTTGTGCTCACCTACAAGCTG	0.667											OREG0019059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zdi.1		NA																	0				central_nervous_system(2)	2						c.(670-672)ACC>ATC		major facilitator superfamily domain containing							23.0	20.0	21.0					8																	145735387		2153	4171	6324	SO:0001583	missense	113655				transmembrane transport	integral to membrane		g.chr8:145735387C>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.671C>T	8.37:g.145735387C>T	ENSP00000301327:p.Thr224Ile		OREG0019059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1696		p.T224I	NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		1	836	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		224			Leu-rich.|Helical; (Potential).			Missense_Mutation	SNP	ENST00000301327.4	37	c.671C>T	CCDS6431.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398074	0.42512	.	.	ENSG00000167700	ENST00000301327	T	0.79845	-1.31	5.54	3.49	0.39957	Major facilitator superfamily domain, general substrate transporter (1);	0.475472	0.23834	N	0.044120	T	0.69663	0.3136	L	0.51914	1.62	0.36731	D	0.881693	B	0.22983	0.078	B	0.18871	0.023	T	0.65179	-0.6231	10	0.25106	T	0.35	-25.3963	4.8729	0.13642	0.0:0.6337:0.0:0.3663	.	224	Q96ES6	MFSD3_HUMAN	I	224	ENSP00000301327:T224I	ENSP00000301327:T224I	T	+	2	0	MFSD3	145706195	0.041000	0.20044	0.992000	0.48379	0.876000	0.50452	0.568000	0.23623	1.339000	0.45563	0.561000	0.74099	ACC		0.667	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		5	15	0	0	0	0	5	15				
ZNF16	7564	broad.mit.edu	37	8	146171451	146171451	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:146171451G>A	ENST00000276816.4	-	3	328	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	ZNF16_ENST00000394909.2_Missense_Mutation_p.P48S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	48					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTACAGCAGGGGGTACCACAG	0.587																																						uc003zet.2		NA																	0				ovary(5)	5						c.(142-144)CCC>TCC		zinc finger protein 16							83.0	79.0	80.0					8																	146171451		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146171451G>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.142C>T	8.37:g.146171451G>A	ENSP00000276816:p.Pro48Ser					ZNF16_uc003zeu.2_Missense_Mutation_p.P48S	p.P48S	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	3	329	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	48					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.142C>T	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	1.803	-0.476637	0.04414	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351;ENST00000527811	T;T;T;T	0.45276	3.18;3.18;4.68;0.9	3.44	0.528	0.17089	.	.	.	.	.	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.24941	-1.0146	9	0.15066	T	0.55	.	2.7421	0.05256	0.2499:0.0:0.5253:0.2247	.	48	P17020	ZNF16_HUMAN	S	48	ENSP00000276816:P48S;ENSP00000378369:P48S;ENSP00000434321:P48S;ENSP00000432755:P48S	ENSP00000276816:P48S	P	-	1	0	ZNF16	146142255	0.208000	0.23494	0.001000	0.08648	0.063000	0.16089	0.333000	0.19768	0.092000	0.17331	-0.140000	0.14226	CCC		0.587	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		7	80	0	0	0	0	7	80				
KCNV2	169522	broad.mit.edu	37	9	2729471	2729471	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:2729471G>A	ENST00000382082.3	+	2	1620	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	461					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTGGGCTACGGAGACATGTAC	0.517																																						uc003zho.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1381-1383)GGA>GAA		potassium channel, subfamily V, member 2							127.0	103.0	111.0					9																	2729471		2203	4300	6503	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2729471G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1382G>A	9.37:g.2729471G>A	ENSP00000371514:p.Gly461Glu						p.G461E	NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	2	1596	+			461			Selectivity filter (By similarity).		Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.1382G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115397	0.94339	.	.	ENSG00000168263	ENST00000382082	D	0.99207	-5.56	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96972	0.9709	10	0.87932	D	0	.	19.47	0.94959	0.0:0.0:1.0:0.0	.	461	Q8TDN2	KCNV2_HUMAN	E	461	ENSP00000371514:G461E	ENSP00000371514:G461E	G	+	2	0	KCNV2	2719471	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.813000	0.99286	2.681000	0.91329	0.655000	0.94253	GGA		0.517	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		17	79	0	0	0	0	17	79				
RFX3	5991	broad.mit.edu	37	9	3330439	3330439	+	Silent	SNP	C	C	T	rs367887438		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:3330439C>T	ENST00000382004.3	-	5	605	c.294G>A	c.(292-294)ggG>ggA	p.G98G	RFX3_ENST00000358730.2_Silent_p.G98G|RFX3_ENST00000302303.1_Silent_p.G98G	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	98					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GGGCGGAACTCCCTTGAGTAT	0.488																																						uc003zhr.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(292-294)GGG>GGA		regulatory factor X3 isoform b							112.0	100.0	104.0					9																	3330439		2203	4300	6503	SO:0001819	synonymous_variant	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3330439C>T	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.294G>A	9.37:g.3330439C>T						RFX3_uc010mhd.2_Silent_p.G98G|RFX3_uc003zhs.1_Silent_p.G98G|RFX3_uc003zht.1_Silent_p.G98G|RFX3_uc010mhe.1_Silent_p.G98G	p.G98G	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	5	606	-			98					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	ENST00000382004.3	37	c.294G>A	CCDS6449.1																																																																																				0.488	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		25	38	0	0	0	0	25	38				
ERMP1	79956	broad.mit.edu	37	9	5805208	5805208	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:5805208C>T	ENST00000339450.5	-	10	1822	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Intron|ERMP1_ENST00000543230.1_Missense_Mutation_p.G156E	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	578						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AATAAATTTTCCTTGGGCACC	0.383																																						uc003zjm.1		NA																	0				ovary(1)	1						c.(1732-1734)GGA>GAA		aminopeptidase Fxna							54.0	51.0	52.0					9																	5805208		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5805208C>T	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1733G>A	9.37:g.5805208C>T	ENSP00000340427:p.Gly578Glu					ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Missense_Mutation_p.G192E	p.G578E	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	10	1787	-		Acute lymphoblastic leukemia(23;0.158)	578			Cytoplasmic (Potential).		B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1733G>A	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859158	0.32884	.	.	ENSG00000099219	ENST00000339450;ENST00000543230	T;T	0.23552	1.9;1.9	5.7	5.7	0.88788	.	0.403395	0.28865	N	0.013887	T	0.09905	0.0243	N	0.08118	0	0.80722	D	1	P	0.44986	0.847	B	0.32762	0.152	T	0.09662	-1.0664	10	0.30854	T	0.27	-15.3349	7.9031	0.29746	0.2033:0.7168:0.0:0.0799	.	578	Q7Z2K6	ERMP1_HUMAN	E	578;156	ENSP00000340427:G578E;ENSP00000439368:G156E	ENSP00000340427:G578E	G	-	2	0	ERMP1	5795208	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.144000	0.50616	2.686000	0.91538	0.591000	0.81541	GGA		0.383	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		4	13	0	0	0	0	4	13				
KIAA2026	158358	broad.mit.edu	37	9	5968741	5968741	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:5968741G>A	ENST00000399933.3	-	3	1489	c.1490C>T	c.(1489-1491)cCa>cTa	p.P497L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P497L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	497										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTAATGGGTGGAATTGGAAA	0.378																																						uc003zjq.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1489-1491)CCA>CTA		hypothetical protein LOC158358							64.0	65.0	64.0					9																	5968741		1801	4068	5869	SO:0001583	missense	158358							g.chr9:5968741G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.1490C>T	9.37:g.5968741G>A	ENSP00000382815:p.Pro497Leu						p.P497L	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	1706	-		Acute lymphoblastic leukemia(23;0.158)	497					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.1490C>T		.	.	.	.	.	.	.	.	.	.	G	16.64	3.179107	0.57800	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	D;D;D	0.92495	-3.05;-3.05;-3.05	6.08	5.18	0.71444	.	0.000000	0.49305	U	0.000151	D	0.89213	0.6651	L	0.47716	1.5	0.53688	D	0.999975	P	0.38078	0.617	B	0.38712	0.28	D	0.89154	0.3525	10	0.72032	D	0.01	.	11.7518	0.51853	0.0647:0.0:0.8109:0.1244	.	497	Q5HYC2	K2026_HUMAN	L	497;497;430	ENSP00000382815:P497L;ENSP00000370870:P497L;ENSP00000444993:P430L	ENSP00000370870:P497L	P	-	2	0	KIAA2026	5958741	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.377000	0.79668	1.561000	0.49584	0.591000	0.81541	CCA		0.378	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		46	88	0	0	0	0	46	88				
FREM1	158326	broad.mit.edu	37	9	14776177	14776177	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:14776177C>T	ENST00000380880.3	-	25	5250	c.4467G>A	c.(4465-4467)cgG>cgA	p.R1489R	FREM1_ENST00000422223.2_Silent_p.R1489R|FREM1_ENST00000380881.4_Silent_p.R1490R|FREM1_ENST00000486223.1_5'Flank|FREM1_ENST00000380894.1_Silent_p.R25R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1489					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.R1490R(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGTGCTCGGTCCGCAGTCCAT	0.527																																						uc003zlm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(4465-4467)CGG>CGA		FRAS1 related extracellular matrix 1 precursor							47.0	52.0	50.0					9																	14776177		2037	4182	6219	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14776177C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4467G>A	9.37:g.14776177C>T						FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Silent_p.R25R	p.R1489R	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	25	5057	-			1489			CSPG 11.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.4467G>A	CCDS47952.1																																																																																				0.527	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		20	37	0	0	0	0	20	37				
CCDC171	203238	broad.mit.edu	37	9	15971756	15971756	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:15971756C>T	ENST00000380701.3	+	26	4231	c.3903C>T	c.(3901-3903)ccC>ccT	p.P1301P	CCDC171_ENST00000486641.2_Intron	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1301																	ATACTGTGCCCCATGCTCTGA	0.388																																						uc003zmd.2		NA																	0					0						c.(3901-3903)CCC>CCT		hypothetical protein LOC203238							174.0	172.0	173.0					9																	15971756		2203	4300	6503	SO:0001819	synonymous_variant	203238							g.chr9:15971756C>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3903C>T	9.37:g.15971756C>T						C9orf93_uc003zme.2_Silent_p.P1216P|C9orf93_uc011lmu.1_Silent_p.P1309P	p.P1301P	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	26	4218	+			1301					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	ENST00000380701.3	37	c.3903C>T	CCDS6481.1																																																																																				0.388	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		101	59	0	0	0	0	101	59				
BNC2	54796	broad.mit.edu	37	9	16437494	16437494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:16437494C>T	ENST00000380672.4	-	6	755	c.698G>A	c.(697-699)tGg>tAg	p.W233*	BNC2_ENST00000545497.1_Nonsense_Mutation_p.W138*|BNC2_ENST00000380667.2_Nonsense_Mutation_p.W166*|BNC2_ENST00000380666.2_Nonsense_Mutation_p.W233*	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CATGATGGCCCAGCGGTCCAG	0.443																																						uc003zml.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(697-699)TGG>TAG		basonuclin 2							30.0	33.0	32.0					9																	16437494		2192	4289	6481	SO:0001587	stop_gained	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16437494C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.698G>A	9.37:g.16437494C>T	ENSP00000370047:p.Trp233*					BNC2_uc011lmw.1_Nonsense_Mutation_p.W138*|BNC2_uc003zmm.2_Nonsense_Mutation_p.W191*|BNC2_uc003zmq.1_Nonsense_Mutation_p.W247*|BNC2_uc003zmr.1_Nonsense_Mutation_p.W270*|BNC2_uc003zmp.1_Nonsense_Mutation_p.W261*|BNC2_uc010mij.1_Nonsense_Mutation_p.W155*|BNC2_uc011lmv.1_Nonsense_Mutation_p.W59*|BNC2_uc003zmo.1_Nonsense_Mutation_p.W155*|BNC2_uc003zmj.2_5'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_5'UTR|BNC2_uc003zmn.1_5'UTR	p.W233*	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	838	-			233						Nonsense_Mutation	SNP	ENST00000380672.4	37	c.698G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608064	0.87258	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	.	.	.	6.07	6.07	0.98685	.	0.050736	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6611	20.2697	0.98465	0.0:1.0:0.0:0.0	.	.	.	.	X	233;190;270;261;166;138;59;233;233	.	ENSP00000370041:W233X	W	-	2	0	BNC2	16427494	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	TGG		0.443	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		13	48	0	0	0	0	13	48				
ADAMTSL1	92949	broad.mit.edu	37	9	18675895	18675895	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:18675895C>T	ENST00000380548.4	+	10	1465	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.P376S|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.P376S|ADAMTSL1_ENST00000380566.4_Intron	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	376	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCTACCATCCCCTTCCTCG	0.368																																						uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(1126-1128)CCC>TCC		ADAMTS-like 1 isoform 4 precursor							238.0	183.0	202.0					9																	18675895		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18675895C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1126C>T	9.37:g.18675895C>T	ENSP00000369921:p.Pro376Ser					ADAMTSL1_uc003znb.2_Intron|ADAMTSL1_uc003znc.3_Missense_Mutation_p.P376S	p.P376S	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	10	1253	+			376			TSP type-1 2.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1126C>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710881	0.89112	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000276935	T;T;T	0.60920	0.15;0.15;0.15	5.68	5.68	0.88126	.	.	.	.	.	T	0.80874	0.4707	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80977	-0.1141	9	0.40728	T	0.16	.	19.7923	0.96464	0.0:1.0:0.0:0.0	.	376	Q8N6G6	ATL1_HUMAN	S	376	ENSP00000369921:P376S;ENSP00000327887:P376S;ENSP00000276935:P376S	ENSP00000276935:P376S	P	+	1	0	ADAMTSL1	18665895	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.299000	0.78831	2.693000	0.91896	0.655000	0.94253	CCC		0.368	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			11	46	0	0	0	0	11	46				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; 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.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|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	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	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.chr9:21971120G>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.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	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_Missense_Mutation_p.P135L	p.R80*	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	450	-		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)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		12	15	0	0	0	0	12	15				
MOB3B	79817	broad.mit.edu	37	9	27359212	27359212	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:27359212G>A	ENST00000262244.5	-	3	865	c.441C>T	c.(439-441)ttC>ttT	p.F147F	MOB3B_ENST00000603061.1_5'UTR	NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	147							metal ion binding (GO:0046872)										AGATCTGAAGGAAGTTCTTTG	0.458																																						uc003zqn.2		NA																	0				ovary(1)|pleura(1)	2						c.(439-441)TTC>TTT		MOB1, Mps One Binder kinase activator-like 2B							118.0	127.0	124.0					9																	27359212		2203	4300	6503	SO:0001819	synonymous_variant	79817						metal ion binding|protein binding	g.chr9:27359212G>A	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.441C>T	9.37:g.27359212G>A							p.F147F	NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)	3	937	-		all_neural(11;9.12e-11)	147					Q8NEB4|Q9H8V4	Silent	SNP	ENST00000262244.5	37	c.441C>T	CCDS6520.1																																																																																				0.458	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		35	161	0	0	0	0	35	161				
TAF1L	138474	broad.mit.edu	37	9	32632800	32632800	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:32632800G>A	ENST00000242310.4	-	1	2867	c.2778C>T	c.(2776-2778)tcC>tcT	p.S926S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	926					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGCAAAAAAGGATTTCTCAC	0.453																																						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2776-2778)TCC>TCT		TBP-associated factor RNA polymerase 1-like							175.0	161.0	166.0					9																	32632800		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632800G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2778C>T	9.37:g.32632800G>A						uc003zrh.1_5'Flank	p.S926S	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2868	-			926					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.2778C>T	CCDS35003.1																																																																																				0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			16	131	0	0	0	0	16	131				
NOL6	65083	broad.mit.edu	37	9	33467448	33467449	+	Missense_Mutation	DNP	GG	GG	AA	rs115753355	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:33467448_33467449GG>AA	ENST00000379471.2	-	13	1755_1756	c.1668_1669CC>TT	c.(1666-1671)ctCCgg>ctTTgg	p.R557W	NOL6_ENST00000455041.2_Missense_Mutation_p.R505W|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	557					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCCTCAGGCCGGAGAAGGAGTC	0.599											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zsz.2		NA																	0				ovary(2)	2						c.(1666-1671)CTCCGG>CTTTGG		nucleolar protein family 6 alpha isoform																																				SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33467448_33467449GG>AA	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1668_1669delinsAA	9.37:g.33467448_33467449delinsAA	ENSP00000368784:p.Arg557Trp		OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.R557W|NOL6_uc010mjv.2_Missense_Mutation_p.R554W|NOL6_uc011lob.1_Missense_Mutation_p.R505W|NOL6_uc003ztb.1_Missense_Mutation_p.R557W	p.R557W	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	13	1769_1770	-			557					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	DNP	ENST00000379471.2	37	c.1668_1669CC>TT																																																																																					0.599	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		9	27	0	0	0	0	9	27				
UBE2R2	54926	broad.mit.edu	37	9	33922871	33922871	+	IGR	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:33922871A>T	ENST00000263228.3	+	0	4075				UBAP2_ENST00000360802.1_Missense_Mutation_p.F1026L|UBAP2_ENST00000539807.1_Missense_Mutation_p.F781L|UBAP2_ENST00000379239.4_Missense_Mutation_p.F759L|UBAP2_ENST00000379235.1_Missense_Mutation_p.F265L|UBAP2_ENST00000449054.1_Missense_Mutation_p.F1026L|UBAP2_ENST00000379238.1_Missense_Mutation_p.F1026L	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2						protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		CCTGCTTGTCAAAAGTCTACA	0.572																																						uc003ztq.1		NA																	0				ovary(3)	3						c.(3076-3078)TTT>TTA		ubiquitin associated protein 2							87.0	80.0	82.0					9																	33922871		2203	4300	6503	SO:0001628	intergenic_variant	55833							g.chr9:33922871A>T	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797		9.37:g.33922871A>T						UBAP2_uc011loc.1_Missense_Mutation_p.F935L|UBAP2_uc011lod.1_Missense_Mutation_p.F759L|UBAP2_uc011loe.1_Missense_Mutation_p.F781L|UBAP2_uc003ztn.1_Missense_Mutation_p.F265L|UBAP2_uc003zto.1_Missense_Mutation_p.F265L|UBAP2_uc003ztp.1_Missense_Mutation_p.F265L	p.F1026L	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	28	3191	-			1026					D3DRL5|Q9NX64	Missense_Mutation	SNP	ENST00000263228.3	37	c.3078T>A	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739000	0.49045	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	6.17	2.54	0.30619	.	0.089158	0.85682	D	0.000000	T	0.45796	0.1360	M	0.74881	2.28	0.80722	D	1	P;P;P;P	0.52316	0.875;0.875;0.952;0.802	B;B;B;B	0.40825	0.341;0.341;0.341;0.184	T	0.51553	-0.8691	10	0.72032	D	0.01	-16.8364	10.153	0.42805	0.8103:0.0:0.1897:0.0	.	781;759;935;1026	F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;UBAP2_HUMAN	L	1026;1026;1026;935;265;759;781;460	ENSP00000368540:F1026L;ENSP00000416932:F1026L;ENSP00000354039:F1026L;ENSP00000368537:F265L;ENSP00000368541:F759L;ENSP00000439329:F781L	ENSP00000259602:F460L	F	-	3	2	UBAP2	33912871	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	1.955000	0.40372	0.567000	0.29293	0.533000	0.62120	TTT		0.572	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		55	28	0	0	0	0	55	28				
C9orf131	138724	broad.mit.edu	37	9	35045473	35045473	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:35045473G>A	ENST00000312292.5	+	2	2894	c.2847G>A	c.(2845-2847)agG>agA	p.R949R	C9orf131_ENST00000354479.5_Silent_p.R876R|C9orf131_ENST00000421362.2_Silent_p.R901R|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	949										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCACCCTAGGAAACCCAAAG	0.542																																						uc003zvw.2		NA																	0					0						c.(2845-2847)AGG>AGA		hypothetical protein LOC138724 isoform A							123.0	127.0	126.0					9																	35045473		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35045473G>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2847G>A	9.37:g.35045473G>A						C9orf131_uc003zvu.2_Silent_p.R901R|C9orf131_uc003zvv.2_Silent_p.R876R|C9orf131_uc003zvx.2_Silent_p.R914R	p.R949R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2876	+	all_epithelial(49;0.22)		949					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.2847G>A	CCDS6572.2																																																																																				0.542	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		19	145	0	0	0	0	19	145				
UNC13B	10497	broad.mit.edu	37	9	35243343	35243343	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:35243343C>T	ENST00000378495.3	+	6	672	c.450C>T	c.(448-450)gcC>gcT	p.A150A	UNC13B_ENST00000378496.4_Silent_p.A150A|UNC13B_ENST00000396787.1_Silent_p.A150A	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	150					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AAATCAATGCCTTGGGAGCTG	0.443																																						uc003zwq.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(448-450)GCC>GCT		UNC13 (C. elegans)-like							120.0	120.0	120.0					9																	35243343		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35243343C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.450C>T	9.37:g.35243343C>T						UNC13B_uc010mkl.1_Silent_p.A150A|UNC13B_uc003zwr.2_Silent_p.A150A	p.A150A	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		6	742	+	all_epithelial(49;0.212)		150					Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.450C>T	CCDS6579.1																																																																																				0.443	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		25	131	0	0	0	0	25	131				
RECK	8434	broad.mit.edu	37	9	36102140	36102140	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:36102140C>T	ENST00000377966.3	+	12	1914	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	450					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GAACAAATTCCCTGAAGACCA	0.373																																						uc003zyv.2		NA																	0				skin(2)|ovary(1)	3						c.(1348-1350)CCT>TCT		RECK protein precursor							124.0	125.0	125.0					9																	36102140		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36102140C>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1348C>T	9.37:g.36102140C>T	ENSP00000367202:p.Pro450Ser					RECK_uc003zyw.2_Missense_Mutation_p.P322S|RECK_uc003zyx.2_RNA	p.P450S	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		12	1434	+			450					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.1348C>T	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071277	0.55646	.	.	ENSG00000122707	ENST00000377966	T	0.42513	0.97	5.46	5.46	0.80206	.	0.056797	0.64402	D	0.000001	T	0.37919	0.1021	L	0.41824	1.3	0.58432	D	0.999992	D;D	0.53151	0.958;0.958	B;B	0.42692	0.395;0.395	T	0.08534	-1.0717	10	0.28530	T	0.3	-15.2432	17.1738	0.86836	0.0:1.0:0.0:0.0	.	450;450	A8K9D8;O95980	.;RECK_HUMAN	S	450	ENSP00000367202:P450S	ENSP00000367202:P450S	P	+	1	0	RECK	36092140	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.713000	0.68415	2.726000	0.93360	0.655000	0.94253	CCT		0.373	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			13	76	0	0	0	0	13	76				
PAX5	5079	broad.mit.edu	37	9	37014993	37014993	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:37014993C>T	ENST00000358127.4	-	3	485		c.e3+1		PAX5_ENST00000377853.2_Splice_Site|PAX5_ENST00000523241.1_Splice_Site|PAX5_ENST00000520154.1_Splice_Site|PAX5_ENST00000522003.1_Splice_Site|PAX5_ENST00000377852.2_Splice_Site|PAX5_ENST00000414447.1_Splice_Site|PAX5_ENST00000523145.1_Splice_Site|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Splice_Site|PAX5_ENST00000377847.2_Splice_Site	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5						humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(39)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GAGCCCCTCACCTGTTGATGG	0.577			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1		NA		Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	39	Unknown(39)	p.?(29)	haematopoietic_and_lymphoid_tissue(39)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.e3+1		paired box 5							148.0	140.0	142.0					9																	37014993		2203	4300	6503	SO:0001630	splice_region_variant	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37014993C>T		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.410+1G>A	9.37:g.37014993C>T						PAX5_uc011lpw.1_Splice_Site_p.R137_splice|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Splice_Site_p.R29_splice|PAX5_uc010mls.1_Splice_Site_p.R137_splice|PAX5_uc011lpz.1_Splice_Site_p.R137_splice|PAX5_uc011lqa.1_Splice_Site_p.R29_splice|PAX5_uc010mlq.1_Splice_Site|PAX5_uc011lqb.1_Splice_Site|PAX5_uc010mlo.1_Splice_Site_p.R137_splice|PAX5_uc010mlp.1_Splice_Site_p.R137_splice|PAX5_uc011lqc.1_Splice_Site_p.R137_splice|PAX5_uc010mlr.1_Splice_Site_p.R137_splice|PAX5_uc011lqd.1_Intron|PAX5_uc011lqe.1_Splice_Site|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Splice_Site	p.R137_splice	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	3	858	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)						A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Splice_Site	SNP	ENST00000358127.4	37	c.410_splice	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987282	0.53934	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	.	.	.	5.75	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2474	0.73517	0.0:0.9323:0.0:0.0677	.	.	.	.	.	-1	.	.	.	-	.	.	PAX5	37004993	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	7.776000	0.85560	1.581000	0.49865	0.650000	0.86243	.		0.577	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		Intron	34	172	0	0	0	0	34	172				
FBXO10	26267	broad.mit.edu	37	9	37537656	37537656	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:37537656G>A	ENST00000432825.2	-	3	918	c.870C>T	c.(868-870)gaC>gaT	p.D290D	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron|FBXO10_ENST00000543968.1_5'Flank	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	290					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACATTAAAAAGTCAGAGTCCT	0.542																																						uc004aab.2		NA																	0				lung(5)	5						c.(868-870)GAC>GAT		F-box protein 10							45.0	47.0	46.0					9																	37537656		1880	4108	5988	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37537656G>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.870C>T	9.37:g.37537656G>A						FBXO10_uc004aac.2_Silent_p.D306D|FBXO10_uc004aad.2_Intron	p.D290D	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	3	919	-			290					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.870C>T	CCDS47966.1																																																																																				0.542	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			6	40	0	0	0	0	6	40				
ALDH1B1	219	broad.mit.edu	37	9	38396326	38396326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:38396326G>A	ENST00000377698.3	+	2	734	c.581G>A	c.(580-582)tGg>tAg	p.W194*		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	194					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		ATGCAGGGTTGGAAACTTGCC	0.587																																						uc004aay.2		NA																	0				skin(1)	1						c.(580-582)TGG>TAG		aldehyde dehydrogenase 1B1 precursor	NADH(DB00157)						82.0	81.0	81.0					9																	38396326		2203	4300	6503	SO:0001587	stop_gained	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396326G>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.581G>A	9.37:g.38396326G>A	ENSP00000366927:p.Trp194*						p.W194*	NM_000692	NP_000683	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	693	+			194					B2R8F0|Q8WX76|Q9BV45	Nonsense_Mutation	SNP	ENST00000377698.3	37	c.581G>A	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200902	0.79015	.	.	ENSG00000137124	ENST00000377698	.	.	.	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1365	0.86742	0.0:0.0:1.0:0.0	.	.	.	.	X	194	.	ENSP00000366927:W194X	W	+	2	0	ALDH1B1	38386326	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	7.511000	0.81718	2.650000	0.89964	0.655000	0.94253	TGG		0.587	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			15	87	0	0	0	0	15	87				
SPATA31A6	389730	broad.mit.edu	37	9	43624966	43624966	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:43624966C>T	ENST00000332857.6	-	4	3749	c.3721G>A	c.(3721-3723)Ggg>Agg	p.G1241R	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1241					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGGGAAACCCACAGACTGGG	0.507																																						uc011lrb.1		NA																	0					0						c.(3721-3723)GGG>AGG		hypothetical protein LOC389730							5.0	5.0	5.0					9																	43624966		490	1363	1853	SO:0001583	missense	389730					integral to membrane		g.chr9:43624966C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3721G>A	9.37:g.43624966C>T	ENSP00000329825:p.Gly1241Arg						p.G1241R	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3750	-			1241						Missense_Mutation	SNP	ENST00000332857.6	37	c.3721G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	2.981	-0.210344	0.06140	.	.	ENSG00000185775	ENST00000332857	T	0.03920	3.76	2.44	-4.88	0.03113	.	1.492470	0.04334	N	0.352806	T	0.04543	0.0124	L	0.45581	1.43	0.09310	N	1	B	0.27351	0.176	B	0.30943	0.122	T	0.36089	-0.9762	10	0.34782	T	0.22	0.0598	0.2113	0.00156	0.3026:0.192:0.1502:0.3552	.	1241	Q5VVP1	F75A6_HUMAN	R	1241	ENSP00000329825:G1241R	ENSP00000329825:G1241R	G	-	1	0	FAM75A6	43564962	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.036000	0.01421	-1.611000	0.01581	0.383000	0.25322	GGG		0.507	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		37	405	0	0	0	0	37	405				
C9orf135	138255	broad.mit.edu	37	9	72459528	72459528	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:72459528C>T	ENST00000377197.3	+	2	335	c.248C>T	c.(247-249)aCc>aTc	p.T83I	C9orf135_ENST00000527647.1_Missense_Mutation_p.T83I|C9orf135_ENST00000466872.2_Intron	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	83						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CGACTGGGAACCGATGAATCC	0.398																																						uc004ahl.2		NA																	0				ovary(1)	1						c.(247-249)ACC>ATC		hypothetical protein LOC138255							76.0	79.0	78.0					9																	72459528		2203	4300	6503	SO:0001583	missense	138255					integral to membrane		g.chr9:72459528C>T		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.248C>T	9.37:g.72459528C>T	ENSP00000366402:p.Thr83Ile					C9orf135_uc011lrw.1_Intron|C9orf135_uc010moq.2_Intron|C9orf135_uc011lrx.1_Intron|C9orf135_uc010mop.2_Missense_Mutation_p.T83I	p.T83I	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN			2	313	+			83			Extracellular (Potential).		A7E2U4|B2RN61	Missense_Mutation	SNP	ENST00000377197.3	37	c.248C>T	CCDS35041.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319626	0.23994	.	.	ENSG00000204711	ENST00000377197;ENST00000527647	.	.	.	5.35	1.2	0.21068	.	0.416306	0.23144	N	0.051435	T	0.31857	0.0810	L	0.54323	1.7	0.19945	N	0.999943	P;P	0.49358	0.923;0.867	P;B	0.46110	0.504;0.408	T	0.13442	-1.0509	9	0.48119	T	0.1	-13.7957	4.2886	0.10867	0.1491:0.4794:0.2893:0.0822	.	83;83	A7E2U4;Q5VTT2	.;CI135_HUMAN	I	83	.	ENSP00000366402:T83I	T	+	2	0	C9orf135	71649348	0.028000	0.19301	0.355000	0.25773	0.057000	0.15508	-0.099000	0.11007	0.373000	0.24621	-0.175000	0.13238	ACC		0.398	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		42	73	0	0	0	0	42	73				
TRPM3	80036	broad.mit.edu	37	9	73477822	73477822	+	Splice_Site	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:73477822A>T	ENST00000377111.2	-	3	706		c.e3+1		TRPM3_ENST00000377110.3_Splice_Site|TRPM3_ENST00000377106.1_Splice_Site|TRPM3_ENST00000360823.2_Splice_Site|TRPM3_ENST00000361823.5_Splice_Site|TRPM3_ENST00000357533.2_Splice_Site|TRPM3_ENST00000377097.3_Splice_Site|TRPM3_ENST00000396285.1_Splice_Site|TRPM3_ENST00000396283.1_Splice_Site|TRPM3_ENST00000396292.4_Splice_Site|TRPM3_ENST00000358082.3_Splice_Site|TRPM3_ENST00000396280.5_Splice_Site|TRPM3_ENST00000377105.1_Splice_Site|TRPM3_ENST00000377101.1_Splice_Site|TRPM3_ENST00000423814.3_Splice_Site|TRPM3_ENST00000408909.2_Splice_Site|TRPM3_ENST00000437699.3_5'Flank	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3						calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTTCTGATTACCATGGCTTT	0.463																																						uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.e3+1		transient receptor potential cation channel,							214.0	196.0	202.0					9																	73477822		2203	4300	6503	SO:0001630	splice_region_variant	80036					integral to membrane	calcium channel activity	g.chr9:73477822A>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.462+1T>A	9.37:g.73477822A>T						TRPM3_uc004ahw.2_Splice_Site_p.M1_splice|TRPM3_uc004ahx.2_Splice_Site_p.M1_splice|TRPM3_uc004ahy.2_Splice_Site_p.M1_splice|TRPM3_uc004ahz.2_Splice_Site_p.M1_splice|TRPM3_uc004aia.2_Splice_Site_p.M1_splice|TRPM3_uc004aib.2_Splice_Site_p.M1_splice|TRPM3_uc004aic.2_Splice_Site_p.M154_splice|TRPM3_uc010mor.2_Splice_Site_p.M154_splice|TRPM3_uc004aie.2_Splice_Site_p.M1_splice|TRPM3_uc004aif.2_Splice_Site_p.M1_splice|TRPM3_uc004aig.2_Splice_Site_p.M1_splice|TRPM3_uc004aii.2_Splice_Site_p.M156_splice	p.M154_splice	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			3	706	-								A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Splice_Site	SNP	ENST00000377111.2	37	c.462_splice		.	.	.	.	.	.	.	.	.	.	A	19.94	3.919340	0.73098	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451;ENST00000377097	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4159	0.83738	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM3	72667642	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	.		0.463	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	Intron	19	154	0	0	0	0	19	154				
GCNT1	2650	broad.mit.edu	37	9	79117759	79117759	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79117759G>A	ENST00000376730.4	+	4	945	c.462G>A	c.(460-462)gtG>gtA	p.V154V	GCNT1_ENST00000536223.1_Silent_p.V154V|GCNT1_ENST00000444201.2_Silent_p.V154V|GCNT1_ENST00000442371.1_Silent_p.V154V	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	154	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GCATTCATGTGGACACAAAAT	0.428																																						uc010mpf.2		NA																	0					0						c.(460-462)GTG>GTA		beta-1,3-galactosyl-O-glycosyl-glycoprotein							71.0	72.0	72.0					9																	79117759		2203	4300	6503	SO:0001819	synonymous_variant	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117759G>A	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.462G>A	9.37:g.79117759G>A						GCNT1_uc010mpg.2_Silent_p.V154V|GCNT1_uc010mph.2_Silent_p.V154V|GCNT1_uc004akf.3_Silent_p.V154V|GCNT1_uc010mpi.2_Silent_p.V154V|GCNT1_uc004akh.3_Silent_p.V154V	p.V154V	NM_001490	NP_001481	Q02742	GCNT1_HUMAN			3	803	+			154			Lumenal (Potential).|Catalytic (By similarity).		Q6DJZ4	Silent	SNP	ENST00000376730.4	37	c.462G>A	CCDS6653.1																																																																																				0.428	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		42	70	0	0	0	0	42	70				
GCNT1	2650	broad.mit.edu	37	9	79117926	79117927	+	Nonsense_Mutation	DNP	GG	GG	AA	rs367773332		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79117926_79117927GG>AA	ENST00000376730.4	+	4	1112_1113	c.629_630GG>AA	c.(628-630)tGG>tAA	p.W210*	GCNT1_ENST00000536223.1_Nonsense_Mutation_p.W210*|GCNT1_ENST00000444201.2_Nonsense_Mutation_p.W210*|GCNT1_ENST00000442371.1_Nonsense_Mutation_p.W210*	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	210	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AGTGCAAACTGGAAGTACTTGA	0.436																																						uc010mpf.2		NA																	0					0						c.(628-630)TGG>TAA		beta-1,3-galactosyl-O-glycosyl-glycoprotein																																				SO:0001587	stop_gained	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117926_79117927GG>AA	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	Exception_encountered	9.37:g.79117926_79117927delinsAA	ENSP00000365920:p.Trp210*					GCNT1_uc010mpg.2_Nonsense_Mutation_p.W210*|GCNT1_uc010mph.2_Nonsense_Mutation_p.W210*|GCNT1_uc004akf.3_Nonsense_Mutation_p.W210*|GCNT1_uc010mpi.2_Nonsense_Mutation_p.W210*|GCNT1_uc004akh.3_Nonsense_Mutation_p.W210*	p.W210*	NM_001490	NP_001481	Q02742	GCNT1_HUMAN			3	970_971	+			210			Lumenal (Potential).|Catalytic (By similarity).		Q6DJZ4	Nonsense_Mutation	DNP	ENST00000376730.4	37	c.629_630GG>AA	CCDS6653.1																																																																																				0.436	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		18	89	0	0	0	0	18	89				
PRUNE2	158471	broad.mit.edu	37	9	79322795	79322795	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79322795T>A	ENST00000376718.3	-	8	4518	c.4395A>T	c.(4393-4395)aaA>aaT	p.K1465N	PRUNE2_ENST00000428286.1_Missense_Mutation_p.K1106N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1465					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATTCTTCAGTTTTCTCAAGAT	0.433																																						uc010mpk.2		NA																	0					0						c.(4393-4395)AAA>AAT		prune homolog 2							56.0	58.0	57.0					9																	79322795		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322795T>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4395A>T	9.37:g.79322795T>A	ENSP00000365908:p.Lys1465Asn						p.K1465N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	4519	-			1465					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4395A>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.06|11.06	1.528733|1.528733	0.27387|0.27387	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.53206|.	0.63;0.64|.	5.35|5.35	4.2|4.2	0.49525|0.49525	.|.	0.930652|.	0.09035|.	N|.	0.858111|.	T|T	0.59569|0.59569	0.2203|0.2203	L|L	0.60455|0.60455	1.87|1.87	0.45806|0.45806	D|D	0.998685|0.998685	P|.	0.50272|.	0.933|.	B|.	0.41440|.	0.357|.	T|T	0.56432|0.56432	-0.7980|-0.7980	10|5	0.36615|.	T|.	0.2|.	-4.2306|-4.2306	7.4592|7.4592	0.27285|0.27285	0.1416:0.0:0.1483:0.7102|0.1416:0.0:0.1483:0.7102	.|.	1465|.	Q8WUY3|.	PRUN2_HUMAN|.	N|Y	1465;1106;1464|787	ENSP00000365908:K1465N;ENSP00000397425:K1106N|.	ENSP00000365908:K1465N|.	K|N	-|-	3|1	2|0	PRUNE2|PRUNE2	78512615|78512615	0.700000|0.700000	0.27796|0.27796	0.078000|0.078000	0.20375|0.20375	0.033000|0.033000	0.12548|0.12548	1.972000|1.972000	0.40540|0.40540	0.961000|0.961000	0.38030|0.38030	0.459000|0.459000	0.35465|0.35465	AAA|AAC		0.433	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		20	88	0	0	0	0	20	88				
TLE4	7091	broad.mit.edu	37	9	82267635	82267635	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:82267635C>T	ENST00000376552.2	+	7	1536	c.518C>T	c.(517-519)tCc>tTc	p.S173F	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Missense_Mutation_p.S173F|TLE4_ENST00000376520.4_Missense_Mutation_p.S173F|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.S148F|TLE4_ENST00000376537.4_Missense_Mutation_p.S173F	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	173	Gly/Pro-rich (GP domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGGCCCTCTCCAGTGCTCTA	0.542																																						uc004ald.2		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(496-498)TCC>TTC		transducin-like enhancer protein 4							97.0	97.0	97.0					9																	82267635		1947	4145	6092	SO:0001583	missense	7091							g.chr9:82267635C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.518C>T	9.37:g.82267635C>T	ENSP00000365735:p.Ser173Phe					TLE4_uc004alc.2_Missense_Mutation_p.S173F|TLE4_uc010mpr.2_Missense_Mutation_p.S52F|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.S141F|TLE4_uc010mps.2_Missense_Mutation_p.S166F|TLE4_uc004alf.2_Missense_Mutation_p.S112F	p.S166F	NM_007005	NP_008936	O60756	BCE1_HUMAN			7	1346	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.497C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828807	0.71258	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.74;0.69;0.74;0.72;0.71;1.3;1.39	6.04	6.04	0.98038	.	0.107189	0.64402	D	0.000004	T	0.62502	0.2433	M	0.76170	2.325	0.80722	D	1	P;P;P;P	0.48230	0.723;0.729;0.907;0.76	P;P;P;P	0.54401	0.664;0.474;0.751;0.568	T	0.55114	-0.8191	10	0.09590	T	0.72	-20.5216	20.5948	0.99439	0.0:1.0:0.0:0.0	.	148;173;173;173	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	F	173;173;173;187;187;173;148;171;158;43	ENSP00000365735:S173F;ENSP00000365727:S173F;ENSP00000365703:S173F;ENSP00000415423:S187F;ENSP00000365720:S173F;ENSP00000265284:S148F;ENSP00000412567:S171F;ENSP00000409313:S158F;ENSP00000417844:S43F	ENSP00000265284:S148F	S	+	2	0	TLE4	81457455	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.677000	0.68142	2.873000	0.98535	0.563000	0.77884	TCC		0.542	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		67	120	0	0	0	0	67	120				
SPATA31D1	389763	broad.mit.edu	37	9	84606513	84606513	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:84606513C>T	ENST00000344803.2	+	4	1175	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	376					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CATCTGATTTCATGGAGGAGC	0.468																																						uc004amn.2		NA																	0					0						c.(1126-1128)TTC>TTT		hypothetical protein LOC389763							140.0	123.0	128.0					9																	84606513		1852	4101	5953	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84606513C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1128C>T	9.37:g.84606513C>T							p.F376F	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1175	+			376						Silent	SNP	ENST00000344803.2	37	c.1128C>T	CCDS47986.1																																																																																				0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		30	54	0	0	0	0	30	54				
SPATA31D1	389763	broad.mit.edu	37	9	84607526	84607526	+	Missense_Mutation	SNP	G	G	A	rs374174863		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:84607526G>A	ENST00000344803.2	+	4	2188	c.2141G>A	c.(2140-2142)cGt>cAt	p.R714H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	714					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCATTGCTACGTCCTCAGAGC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		19681	0.0		0.001	False		,,,				2504	0.0					uc004amn.2		NA																	0					0						c.(2140-2142)CGT>CAT		hypothetical protein LOC389763		G	HIS/ARG	0,3678		0,0,1839	49.0	47.0	47.0		2141	-5.9	0.0	9		47	2,8170		0,2,4084	no	missense	FAM75D1	NM_001001670.2	29	0,2,5923	AA,AG,GG		0.0245,0.0,0.0169	probably-damaging	714/1577	84607526	2,11848	1839	4086	5925	SO:0001583	missense	389763					integral to membrane		g.chr9:84607526G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2141G>A	9.37:g.84607526G>A	ENSP00000341988:p.Arg714His						p.R714H	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2188	+			714						Missense_Mutation	SNP	ENST00000344803.2	37	c.2141G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	6.614	0.481636	0.12581	0.0	2.45E-4	ENSG00000214929	ENST00000344803	T	0.06687	3.27	2.98	-5.95	0.02241	.	3.627900	0.00582	N	0.000334	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	P	0.46952	0.887	B	0.37550	0.253	T	0.37079	-0.9721	10	0.12766	T	0.61	-0.0576	4.1049	0.10032	0.3166:0.0:0.3875:0.2959	.	714	Q6ZQQ2	F75D1_HUMAN	H	714	ENSP00000341988:R714H	ENSP00000341988:R714H	R	+	2	0	FAM75D1	83797346	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.903000	0.04084	-2.006000	0.00958	-0.459000	0.05422	CGT		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		14	66	0	0	0	0	14	66				
FRMD3	257019	broad.mit.edu	37	9	85862842	85862842	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:85862842A>G	ENST00000304195.3	-	14	1991	c.1785T>C	c.(1783-1785)ggT>ggC	p.G595G	FRMD3_ENST00000465485.1_5'Flank|FRMD3_ENST00000376438.1_Intron|FRMD3_ENST00000376434.1_Intron|FRMD3_ENST00000328788.1_Intron	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	595						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCATGAGCAACCCAGCATGT	0.478																																						uc004ams.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1783-1785)GGT>GGC		FERM domain containing 3							195.0	194.0	195.0					9																	85862842		1923	4135	6058	SO:0001819	synonymous_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85862842A>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1785T>C	9.37:g.85862842A>G						FRMD3_uc004amr.1_Intron|FRMD3_uc004amq.1_Intron	p.G595G	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			14	1987	-			595					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	c.1785T>C	CCDS43840.1																																																																																				0.478	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		95	247	0	0	0	0	95	247				
HNRNPK	3190	broad.mit.edu	37	9	86586945	86586945	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:86586945C>T	ENST00000376264.2	-	11	1063	c.805G>A	c.(805-807)Ggt>Agt	p.G269S	HNRNPK_ENST00000376263.3_Missense_Mutation_p.G269S|HNRNPK_ENST00000351839.3_Missense_Mutation_p.G269S|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376281.4_Missense_Mutation_p.G269S|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000360384.5_Missense_Mutation_p.G269S	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	269	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.|Necessary for interaction with DDX1.|RNA-binding RGG-box.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGACGCCCACCCCGACCAGGA	0.582																																						uc004ang.3		NA																	0				skin(1)	1						c.(805-807)GGT>AGT		heterogeneous nuclear ribonucleoprotein K							52.0	57.0	55.0					9																	86586945		2203	4300	6503	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86586945C>T		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.805G>A	9.37:g.86586945C>T	ENSP00000365440:p.Gly269Ser					HNRNPK_uc011lsw.1_Missense_Mutation_p.G29S|HNRNPK_uc004and.3_Missense_Mutation_p.G29S|HNRNPK_uc004ank.3_Missense_Mutation_p.G269S|HNRNPK_uc004anf.3_Missense_Mutation_p.G269S|HNRNPK_uc004anh.3_Missense_Mutation_p.G245S|HNRNPK_uc011lsx.1_Missense_Mutation_p.G245S|HNRNPK_uc004ani.3_Missense_Mutation_p.G269S|HNRNPK_uc004anj.3_Missense_Mutation_p.G269S|HNRNPK_uc004ann.3_Missense_Mutation_p.G245S|HNRNPK_uc004anl.3_Missense_Mutation_p.G269S|HNRNPK_uc004anm.3_Missense_Mutation_p.G269S|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	p.G269S	NM_031262	NP_112552	P61978	HNRPK_HUMAN			11	1029	-			269			5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.|RNA-binding RGG-box.|2 X 6 AA approximate repeats.|Necessary for interaction with DDX1.|3-3.|Interaction with ZIK1 (By similarity).		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.805G>A	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050660	0.75960	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.55588	0.51;0.54;0.51;0.54;0.54	5.31	5.31	0.75309	.	0.232964	0.43260	D	0.000588	T	0.37732	0.1014	N	0.13003	0.285	0.80722	D	1	B;B;B;B;B;B;B;B	0.24721	0.006;0.067;0.02;0.002;0.007;0.11;0.001;0.004	B;B;B;B;B;B;B;B	0.17722	0.002;0.009;0.004;0.003;0.007;0.019;0.001;0.003	T	0.14587	-1.0467	10	0.34782	T	0.22	-5.5059	17.5267	0.87802	0.0:1.0:0.0:0.0	.	245;234;269;264;269;245;269;269	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	S	269;269;269;269;269;234;269;264;245;200	ENSP00000365458:G269S;ENSP00000365440:G269S;ENSP00000365439:G269S;ENSP00000317788:G269S;ENSP00000353552:G269S	ENSP00000317788:G269S	G	-	1	0	HNRNPK	85776765	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.225000	0.78051	2.636000	0.89361	0.655000	0.94253	GGT		0.582	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			14	89	0	0	0	0	14	89				
ZCCHC6	79670	broad.mit.edu	37	9	88960644	88960644	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:88960644A>C	ENST00000375963.3	-	4	931	c.759T>G	c.(757-759)atT>atG	p.I253M	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.I253M|ZCCHC6_ENST00000277141.6_De_novo_Start_OutOfFrame|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.I253M|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.I86M|ZCCHC6_ENST00000375948.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	253					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CAATGGATTCAATTAAAACAT	0.353																																						uc004aoq.2		NA																	0				ovary(2)	2						c.(757-759)ATT>ATG		zinc finger, CCHC domain containing 6							191.0	174.0	180.0					9																	88960644		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88960644A>C	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.759T>G	9.37:g.88960644A>C	ENSP00000365130:p.Ile253Met					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.I253M|ZCCHC6_uc004aou.2_Missense_Mutation_p.I253M|ZCCHC6_uc004aov.2_Missense_Mutation_p.I253M|ZCCHC6_uc004aow.2_Missense_Mutation_p.I253M	p.I253M	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			4	974	-			253					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.759T>G	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.497780	0.44455	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963;ENST00000427388;ENST00000375947	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.49	4.36	0.52297	.	0.215290	0.42420	D	0.000720	T	0.45074	0.1324	L	0.54323	1.7	0.39196	D	0.963064	B;B;D;D	0.57571	0.017;0.017;0.98;0.966	B;B;P;P	0.56700	0.045;0.045;0.804;0.641	T	0.49781	-0.8903	10	0.72032	D	0.01	-13.063	8.176	0.31283	0.8495:0.0:0.1505:0.0	.	253;253;253;253	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	M	253;253;253;86;86	ENSP00000365127:I253M;ENSP00000365128:I253M;ENSP00000365130:I253M;ENSP00000365114:I86M	ENSP00000365114:I86M	I	-	3	3	ZCCHC6	88150464	0.981000	0.34729	1.000000	0.80357	0.995000	0.86356	0.293000	0.19029	2.078000	0.62432	0.383000	0.25322	ATT		0.353	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		13	79	0	0	0	0	13	79				
DAPK1	1612	broad.mit.edu	37	9	90272959	90272959	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:90272959C>T	ENST00000408954.3	+	18	2175	c.1840C>T	c.(1840-1842)Ctg>Ttg	p.L614L	DAPK1_ENST00000358077.5_Silent_p.L614L|DAPK1_ENST00000491893.1_Silent_p.L614L|DAPK1_ENST00000472284.1_Silent_p.L614L|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000469640.2_Silent_p.L614L	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	614					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCGAACGCCTCTGCACCTTGC	0.567									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NA																	0				ovary(1)|breast(1)	2						c.(1840-1842)CTG>TTG		death-associated protein kinase 1							49.0	55.0	53.0					9																	90272959		2108	4234	6342	SO:0001819	synonymous_variant	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90272959C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1840C>T	9.37:g.90272959C>T						DAPK1_uc004apd.2_Silent_p.L614L|DAPK1_uc011ltg.1_Silent_p.L614L|DAPK1_uc011lth.1_Silent_p.L351L|DAPK1_uc004apf.1_Silent_p.L168L	p.L614L	NM_004938	NP_004929	P53355	DAPK1_HUMAN			18	1978	+			614			ANK 8.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.1840C>T	CCDS43842.1																																																																																				0.567	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		7	16	0	0	0	0	7	16				
DAPK1	1612	broad.mit.edu	37	9	90296363	90296363	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:90296363G>C	ENST00000408954.3	+	20	2381	c.2046G>C	c.(2044-2046)caG>caC	p.Q682H	DAPK1_ENST00000358077.5_Missense_Mutation_p.Q682H|DAPK1_ENST00000491893.1_Missense_Mutation_p.Q682H|DAPK1_ENST00000472284.1_Missense_Mutation_p.Q682H|DAPK1_ENST00000469640.2_Missense_Mutation_p.Q682H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	682					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GACCCACACAGAACCTGCAGC	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NA																	0				ovary(1)|breast(1)	2						c.(2044-2046)CAG>CAC		death-associated protein kinase 1							113.0	117.0	116.0					9																	90296363		1991	4179	6170	SO:0001583	missense	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90296363G>C	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2046G>C	9.37:g.90296363G>C	ENSP00000386135:p.Gln682His					DAPK1_uc004apd.2_Missense_Mutation_p.Q682H|DAPK1_uc011ltg.1_Missense_Mutation_p.Q682H|DAPK1_uc011lth.1_Missense_Mutation_p.Q419H|DAPK1_uc004apf.1_Missense_Mutation_p.Q236H	p.Q682H	NM_004938	NP_004929	P53355	DAPK1_HUMAN			20	2184	+			682					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.2046G>C	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712791	0.30413	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.67523	-0.27;-0.27;-0.26;-0.27;-0.24	5.17	3.19	0.36642	.	0.136989	0.32190	N	0.006459	T	0.46737	0.1408	N	0.25647	0.755	0.45502	D	0.99846	B;B;B	0.18310	0.001;0.027;0.001	B;B;B	0.15484	0.001;0.013;0.001	T	0.37979	-0.9682	10	0.33141	T	0.24	.	4.8904	0.13724	0.2456:0.0:0.5939:0.1604	.	682;236;682	B7ZLE7;P53355-2;P53355	.;.;DAPK1_HUMAN	H	682	ENSP00000350785:Q682H;ENSP00000417076:Q682H;ENSP00000418885:Q682H;ENSP00000386135:Q682H;ENSP00000419026:Q682H	ENSP00000350785:Q682H	Q	+	3	2	DAPK1	89486183	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.048000	0.57390	1.430000	0.47334	0.561000	0.74099	CAG		0.502	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		35	182	0	0	0	0	35	182				
DIRAS2	54769	broad.mit.edu	37	9	93375903	93375903	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:93375903C>T	ENST00000375765.3	-	2	595	c.207G>A	c.(205-207)ccG>ccA	p.P69P		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	69					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						GCTGCATGGCCGGGAACTGGT	0.577																																						uc004aqx.1		NA																	0					0						c.(205-207)CCG>CCA		Di-Ras2							144.0	123.0	130.0					9																	93375903		2203	4300	6503	SO:0001819	synonymous_variant	54769				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375903C>T	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.207G>A	9.37:g.93375903C>T							p.P69P	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN			2	318	-			69					B3KVM2	Silent	SNP	ENST00000375765.3	37	c.207G>A	CCDS6687.1																																																																																				0.577	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			34	85	0	0	0	0	34	85				
AUH	549	broad.mit.edu	37	9	94087606	94087606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:94087606C>T	ENST00000375731.4	-	4	522	c.499G>A	c.(499-501)Gat>Aat	p.D167N	AUH_ENST00000422391.2_Missense_Mutation_p.D167N|AUH_ENST00000303617.5_Intron|AUH_ENST00000478465.1_5'UTR	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	167					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTACCAATATCGTTAATCACT	0.343																																						uc004arf.3		NA																	0					0						c.(499-501)GAT>AAT		AU RNA binding protein/enoyl-Coenzyme A							130.0	120.0	124.0					9																	94087606		2203	4300	6503	SO:0001583	missense	549				branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding	g.chr9:94087606C>T	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"""AU RNA-binding protein/enoyl-Coenzyme A hydratase"", ""AU RNA binding protein/enoyl-Coenzyme A hydratase"""			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.499G>A	9.37:g.94087606C>T	ENSP00000364883:p.Asp167Asn					AUH_uc004arg.3_Intron|AUH_uc011ltu.1_Missense_Mutation_p.D167N	p.D167N	NM_001698	NP_001689	Q13825	AUHM_HUMAN			4	534	-			167					B1ALV7|B1ALV8|Q8WUE4	Missense_Mutation	SNP	ENST00000375731.4	37	c.499G>A	CCDS6689.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829260	0.50845	.	.	ENSG00000148090	ENST00000375731;ENST00000422391	T;T	0.67523	-0.27;-0.27	5.01	5.01	0.66863	Crotonase, core (1);	0.160657	0.53938	D	0.000053	T	0.53997	0.1831	L	0.28694	0.88	0.44719	D	0.99771	B;B	0.30406	0.278;0.02	B;B	0.19666	0.026;0.008	T	0.53851	-0.8380	10	0.40728	T	0.16	.	16.675	0.85276	0.0:1.0:0.0:0.0	.	167;167	B4DYI6;Q13825	.;AUHM_HUMAN	N	167	ENSP00000364883:D167N;ENSP00000402026:D167N	ENSP00000364883:D167N	D	-	1	0	AUH	93127427	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.953000	0.63624	2.779000	0.95612	0.655000	0.94253	GAT		0.343	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1			28	103	0	0	0	0	28	103				
IARS	3376	broad.mit.edu	37	9	95030486	95030486	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:95030486G>A	ENST00000375643.3	-	14	1667	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	IARS_ENST00000447699.2_Silent_p.I357I|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Silent_p.I467I	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	467					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CCCACAGTGGGATGGGGGTGC	0.463																																						uc004art.1		NA																	0				ovary(1)|skin(1)	2						c.(1399-1401)ATC>ATT		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						221.0	222.0	222.0					9																	95030486		2203	4300	6503	SO:0001819	synonymous_variant	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95030486G>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1401C>T	9.37:g.95030486G>A						IARS_uc004ars.1_Silent_p.I312I|IARS_uc004aru.3_Silent_p.I467I|IARS_uc010mqr.2_Silent_p.I357I|IARS_uc010mqt.2_Intron	p.I467I	NM_013417	NP_038203	P41252	SYIC_HUMAN			14	1658	-			467					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	ENST00000375643.3	37	c.1401C>T	CCDS6694.1																																																																																				0.463	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		47	242	0	0	0	0	47	242				
ZNF484	83744	broad.mit.edu	37	9	95610131	95610131	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:95610131G>A	ENST00000375495.3	-	5	1086	c.938C>T	c.(937-939)tCc>tTc	p.S313F	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.S315F|ZNF484_ENST00000332591.6_Missense_Mutation_p.S277F|ZNF484_ENST00000395505.2_Missense_Mutation_p.S277F	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGACTTGAGGGAAAAATCCTT	0.433																																						uc004asu.1		NA																	0					0						c.(937-939)TCC>TTC		zinc finger protein 484 isoform a							104.0	97.0	99.0					9																	95610131		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610131G>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.938C>T	9.37:g.95610131G>A	ENSP00000364645:p.Ser313Phe					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.S315F|ZNF484_uc010mrb.1_Missense_Mutation_p.S277F|ZNF484_uc004asv.1_Missense_Mutation_p.S277F	p.S313F	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	1087	-			313					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.938C>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	5.418	0.262274	0.10239	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07567	3.18;3.33;3.35;3.18	2.64	-0.326	0.12698	.	.	.	.	.	T	0.09730	0.0239	M	0.75150	2.29	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.32851	-0.9891	9	0.33940	T	0.23	.	4.6543	0.12610	0.2345:0.1823:0.5832:0.0	.	315;313	B4DRI2;Q5JVG2	.;ZN484_HUMAN	F	277;315;313;277	ENSP00000378881:S277F;ENSP00000378882:S315F;ENSP00000364645:S313F;ENSP00000364646:S277F	ENSP00000364646:S277F	S	-	2	0	ZNF484	94649952	0.000000	0.05858	0.024000	0.17045	0.735000	0.41995	-3.681000	0.00394	-0.080000	0.12685	-0.843000	0.03049	TCC		0.433	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		35	67	0	0	0	0	35	67				
C9orf3	84909	broad.mit.edu	37	9	97522670	97522670	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:97522670A>T	ENST00000375315.2	+	1	605	c.605A>T	c.(604-606)cAg>cTg	p.Q202L	C9orf3_ENST00000277198.2_Missense_Mutation_p.Q202L|C9orf3_ENST00000297979.5_Missense_Mutation_p.Q202L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	202					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGGAGGGAGCAGTTAGACTAT	0.502																																						uc004ava.2		NA																	0				ovary(1)	1						c.(604-606)CAG>CTG		aminopeptidase O							81.0	71.0	74.0					9																	97522670		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522670A>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.605A>T	9.37:g.97522670A>T	ENSP00000364464:p.Gln202Leu					C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.Q202L|C9orf3_uc004auy.2_Missense_Mutation_p.Q202L|C9orf3_uc004auz.1_Missense_Mutation_p.Q202L	p.Q202L	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	740	+			202					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.605A>T	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.125640	0.37533	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193;ENST00000424143	T;T;T;T;T	0.26660	2.5;2.44;2.68;1.72;2.47	4.69	4.69	0.59074	.	0.071694	0.56097	D	0.000029	T	0.38241	0.1033	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.996;0.999	D;D;P;D	0.69142	0.94;0.962;0.889;0.96	T	0.12993	-1.0526	10	0.46703	T	0.11	-15.7423	14.6045	0.68466	1.0:0.0:0.0:0.0	.	202;202;202;202	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	L	202;202;202;76;25	ENSP00000277198:Q202L;ENSP00000297979:Q202L;ENSP00000364464:Q202L;ENSP00000387736:Q76L;ENSP00000402171:Q25L	ENSP00000277198:Q202L	Q	+	2	0	C9orf3	96562491	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.730000	0.74780	2.094000	0.63399	0.383000	0.25322	CAG		0.502	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		16	66	0	0	0	0	16	66				
ZNF510	22869	broad.mit.edu	37	9	99525461	99525461	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:99525461C>A	ENST00000375231.1	-	5	941	c.291G>T	c.(289-291)aaG>aaT	p.K97N	ZNF510_ENST00000472201.1_5'UTR|ZNF510_ENST00000223428.4_Missense_Mutation_p.K97N			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	97	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTTGCTCCAACTTGAAGATCA	0.433																																						uc004awn.1		NA																	0					0						c.(289-291)AAG>AAT		zinc finger protein 510							145.0	146.0	146.0					9																	99525461		2203	4300	6503	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99525461C>A	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.291G>T	9.37:g.99525461C>A	ENSP00000364379:p.Lys97Asn					ZNF510_uc004awo.1_Missense_Mutation_p.K97N	p.K97N	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN			5	480	-		Acute lymphoblastic leukemia(62;0.0527)	97			KRAB.		Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.291G>T	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	c	15.68	2.905373	0.52333	.	.	ENSG00000081386	ENST00000375231;ENST00000223428;ENST00000374641	T;T;T	0.49720	0.77;0.77;0.77	3.3	-3.14	0.05250	Krueppel-associated box (3);	.	.	.	.	T	0.45135	0.1327	M	0.78637	2.42	0.09310	N	0.999992	P	0.44627	0.839	B	0.40444	0.329	T	0.42498	-0.9448	9	0.49607	T	0.09	.	8.9625	0.35856	0.0:0.3421:0.0:0.6579	.	97	Q9Y2H8	ZN510_HUMAN	N	97	ENSP00000364379:K97N;ENSP00000223428:K97N;ENSP00000363772:K97N	ENSP00000223428:K97N	K	-	3	2	ZNF510	98565282	0.003000	0.15002	0.237000	0.24090	0.911000	0.54048	-0.932000	0.03963	-0.798000	0.04444	-0.140000	0.14226	AAG		0.433	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		89	188	1	0	3.3e-42	3.43e-42	89	188				
CCDC180	100499483	broad.mit.edu	37	9	100126386	100126386	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:100126386G>A	ENST00000357054.1	+	41	4858	c.3923G>A	c.(3922-3924)gGg>gAg	p.G1308E	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.G1363E|CCDC180_ENST00000375202.2_Missense_Mutation_p.G1363E|MIR1302-8_ENST00000408342.1_RNA|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1308						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CGGGTGCTTGGGGACAAGCCT	0.562																																						uc011lut.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(4504-4506)GGG>GAG		hypothetical protein LOC57653							56.0	50.0	52.0					9																	100126386		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100126386G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3923G>A	9.37:g.100126386G>A	ENSP00000349562:p.Gly1308Glu					KIAA1529_uc004axe.1_Missense_Mutation_p.G1308E|KIAA1529_uc004axg.1_Missense_Mutation_p.G1363E|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Intron|MIR1302-8_hsa-mir-1302-8|MI0006369_5'Flank	p.G1502E	NM_020893	NP_065944					41	5278	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4505G>A		.	.	.	.	.	.	.	.	.	.	G	17.38	3.375239	0.61735	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.17528	2.32;2.27;2.27	4.72	4.72	0.59763	.	0.053759	0.85682	D	0.000000	T	0.37999	0.1024	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	T	0.05007	-1.0912	10	0.20519	T	0.43	-22.7474	13.9102	0.63862	0.0:0.0:1.0:0.0	.	1502;1308	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	E	1308;1363;1363	ENSP00000349562:G1308E;ENSP00000364348:G1363E;ENSP00000434727:G1363E	ENSP00000349562:G1308E	G	+	2	0	C9orf174	99166207	1.000000	0.71417	0.799000	0.32177	0.394000	0.30568	4.546000	0.60705	2.560000	0.86352	0.655000	0.94253	GGG		0.562	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		5	34	0	0	0	0	5	34				
C9orf156	51531	broad.mit.edu	37	9	100672660	100672660	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:100672660C>T	ENST00000375119.3	-	4	724	c.648G>A	c.(646-648)aaG>aaA	p.K216K	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	216					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TAGGTTTCCTCTTAGTGCTAT	0.488																																						uc004axv.1		NA																	0					0						c.(646-648)AAG>AAA		Nef associated protein 1							210.0	167.0	182.0					9																	100672660		2203	4300	6503	SO:0001819	synonymous_variant	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100672660C>T	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.648G>A	9.37:g.100672660C>T						C9orf156_uc004axw.1_Silent_p.K113K|C9orf156_uc004axx.1_Silent_p.K70K|C9orf156_uc010msq.1_Silent_p.K113K	p.K216K	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN			4	725	-		Acute lymphoblastic leukemia(62;0.158)	216					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Silent	SNP	ENST00000375119.3	37	c.648G>A	CCDS6730.1																																																																																				0.488	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		22	90	0	0	0	0	22	90				
TRIM14	9830	broad.mit.edu	37	9	100857229	100857229	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:100857229G>A	ENST00000341469.2	-	4	629	c.620C>T	c.(619-621)cCc>cTc	p.P207L	TRIM14_ENST00000538344.1_5'Flank|TRIM14_ENST00000375098.3_Missense_Mutation_p.P207L|TRIM14_ENST00000342043.3_Missense_Mutation_p.P207L	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	207					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.P207L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCTCTTGACGGGCTCAAAGGA	0.587																																					Colon(14;460 597 13826 51781)	uc004ayd.2		NA																	1	Substitution - Missense(1)	p.P207L(1)	central_nervous_system(1)	central_nervous_system(1)	1						c.(619-621)CCC>CTC		tripartite motif protein TRIM14 isoform alpha							102.0	93.0	96.0					9																	100857229		2203	4300	6503	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100857229G>A	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.620C>T	9.37:g.100857229G>A	ENSP00000344208:p.Pro207Leu					TRIM14_uc004ayf.1_Missense_Mutation_p.P114L|TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.P207L|TRIM14_uc004ayh.1_Missense_Mutation_p.P207L|TRIM14_uc004ayi.1_Missense_Mutation_p.P207L|TRIM14_uc004ayj.1_Missense_Mutation_p.P114L	p.P207L	NM_033220	NP_150089	Q14142	TRI14_HUMAN			4	638	-		Acute lymphoblastic leukemia(62;0.0559)	207					A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.620C>T	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458198	0.43634	.	.	ENSG00000106785	ENST00000375098;ENST00000311688;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000375092	T;T;T	0.57907	0.37;0.37;0.37	5.49	4.51	0.55191	.	0.157482	0.43416	D	0.000561	T	0.65719	0.2718	L	0.57536	1.79	0.80722	D	1	D;D;B;B	0.89917	1.0;0.998;0.418;0.418	D;D;B;B	0.91635	0.999;0.965;0.079;0.05	T	0.66436	-0.5924	10	0.59425	D	0.04	.	10.1775	0.42948	0.0:0.0:0.6709:0.329	.	50;207;207;207	F8W956;Q14142-2;Q548W9;Q14142	.;.;.;TRI14_HUMAN	L	207;50;207;207;207;207	ENSP00000364239:P207L;ENSP00000344208:P207L;ENSP00000343990:P207L	ENSP00000307909:P50L	P	-	2	0	TRIM14	99897050	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	4.172000	0.58243	2.568000	0.86640	0.561000	0.74099	CCC		0.587	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		20	125	0	0	0	0	20	125				
GABBR2	9568	broad.mit.edu	37	9	101340229	101340229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:101340229C>T	ENST00000259455.2	-	2	906	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	149					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCACCAGATTCCAGCCTTGGA	0.488																																						uc004ays.2		NA																	0				ovary(2)|skin(2)	4						c.(445-447)TGG>TGA		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						185.0	186.0	185.0					9																	101340229		2203	4300	6503	SO:0001587	stop_gained	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101340229C>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.447G>A	9.37:g.101340229C>T	ENSP00000259455:p.Trp149*						p.W149*	NM_005458	NP_005449	O75899	GABR2_HUMAN			2	603	-		Acute lymphoblastic leukemia(62;0.0527)	149			Extracellular (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Nonsense_Mutation	SNP	ENST00000259455.2	37	c.447G>A	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	c	42	9.239518	0.99110	.	.	ENSG00000136928	ENST00000259455	.	.	.	4.24	4.24	0.50183	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2881	14.194	0.65656	0.0:1.0:0.0:0.0	.	.	.	.	X	149	.	ENSP00000259455:W149X	W	-	3	0	GABBR2	100380050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.720000	0.84759	1.921000	0.55644	0.550000	0.68814	TGG		0.488	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			8	71	0	0	0	0	8	71				
NR4A3	8013	broad.mit.edu	37	9	102626030	102626030	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:102626030G>A	ENST00000395097.2	+	8	2491	c.1762G>A	c.(1762-1764)Gta>Ata	p.V588I	NR4A3_ENST00000330847.1_Missense_Mutation_p.V599I	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	588					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GGGTGCCCTGGTAGAACTGAG	0.532			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	uc004baf.1		NA		Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	EWSR1/NR4A3(140)|TAF15/NR4A3(33)	0				bone(173)	173						c.(1762-1764)GTA>ATA		nuclear receptor subfamily 4, group A, member 3							83.0	70.0	74.0					9																	102626030		2203	4300	6503	SO:0001583	missense	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102626030G>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1762G>A	9.37:g.102626030G>A	ENSP00000378531:p.Val588Ile					NR4A3_uc004bag.1_Missense_Mutation_p.V588I|NR4A3_uc004bai.2_Missense_Mutation_p.V599I	p.V588I	NM_006981	NP_008912	Q92570	NR4A3_HUMAN			8	2491	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	588					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.1762G>A	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975102	0.53720	.	.	ENSG00000119508	ENST00000395097;ENST00000330847	T;T	0.51574	0.7;0.7	5.92	5.01	0.66863	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.231703	0.43579	D	0.000559	T	0.31199	0.0789	N	0.08118	0	0.25718	N	0.985401	B;B	0.27264	0.01;0.173	B;B	0.32022	0.014;0.139	T	0.35251	-0.9796	10	0.87932	D	0	.	11.9436	0.52915	0.0:0.1318:0.7311:0.1371	.	599;588	Q92570-3;Q92570	.;NR4A3_HUMAN	I	588;599	ENSP00000378531:V588I;ENSP00000333122:V599I	ENSP00000333122:V599I	V	+	1	0	NR4A3	101665851	1.000000	0.71417	0.982000	0.44146	0.872000	0.50106	3.509000	0.53386	1.466000	0.48025	0.655000	0.94253	GTA		0.532	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			18	28	0	0	0	0	18	28				
GRIN3A	116443	broad.mit.edu	37	9	104375660	104375660	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:104375660C>T	ENST00000361820.3	-	6	3364	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	922					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTCCATACCTCCGTGACAGCA	0.433																																						uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2764-2766)GAG>AAG		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						134.0	106.0	115.0					9																	104375660		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104375660C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2764G>A	9.37:g.104375660C>T	ENSP00000355155:p.Glu922Lys					GRIN3A_uc004bbq.1_Missense_Mutation_p.E922K	p.E922K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			6	3365	-		Acute lymphoblastic leukemia(62;0.0568)	922			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2764G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478127	0.96291	.	.	ENSG00000198785	ENST00000361820	T	0.52754	0.65	5.2	5.2	0.72013	Ionotropic glutamate receptor (1);	0.378699	0.26130	N	0.026163	T	0.64832	0.2634	L	0.55103	1.725	0.80722	D	1	D	0.54601	0.967	D	0.64687	0.928	T	0.65886	-0.6059	10	0.62326	D	0.03	.	19.0971	0.93257	0.0:1.0:0.0:0.0	.	922	Q8TCU5	NMD3A_HUMAN	K	922	ENSP00000355155:E922K	ENSP00000355155:E922K	E	-	1	0	GRIN3A	103415481	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.445000	0.80570	2.586000	0.87340	0.655000	0.94253	GAG		0.433	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			12	60	0	0	0	0	12	60				
OR13D1	286365	broad.mit.edu	37	9	107456851	107456851	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:107456851C>T	ENST00000318763.5	+	1	192	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GTGGGGCTTTCCCAATATCCA	0.448																																						uc011lvs.1		NA																	0				ovary(1)|skin(1)	2						c.(148-150)TCC>TTC		olfactory receptor, family 13, subfamily D,							71.0	72.0	72.0					9																	107456851		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107456851C>T		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.149C>T	9.37:g.107456851C>T	ENSP00000317357:p.Ser50Phe						p.S50F	NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN			1	149	+			50			Extracellular (Potential).		B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.149C>T	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664617	0.29604	.	.	ENSG00000179055	ENST00000318763	T	0.00441	7.41	3.75	3.75	0.43078	.	0.000000	0.50627	D	0.000114	T	0.00998	0.0033	M	0.75615	2.305	0.09310	N	1	D	0.76494	0.999	D	0.66196	0.942	T	0.38757	-0.9646	10	0.87932	D	0	.	13.0659	0.59032	0.0:1.0:0.0:0.0	.	50	Q8NGV5	O13D1_HUMAN	F	50	ENSP00000317357:S50F	ENSP00000317357:S50F	S	+	2	0	OR13D1	106496672	0.111000	0.22076	0.967000	0.41034	0.392000	0.30506	3.998000	0.57024	1.917000	0.55516	0.609000	0.83330	TCC		0.448	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			24	85	0	0	0	0	24	85				
ACTL7B	10880	broad.mit.edu	37	9	111617981	111617981	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:111617981G>A	ENST00000374667.3	-	1	1258	c.230C>T	c.(229-231)tCc>tTc	p.S77F		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	77						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.S77F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCCCACGGTGGAGGAGATGAA	0.637																																						uc004bdi.2		NA																	1	Substitution - Missense(1)		skin(1)	pancreas(1)	1						c.(229-231)TCC>TTC		actin-like 7B							100.0	99.0	99.0					9																	111617981		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617981G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.230C>T	9.37:g.111617981G>A	ENSP00000363799:p.Ser77Phe						p.S77F	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			1	295	-			77					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.230C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678979	0.47886	.	.	ENSG00000148156	ENST00000374667	D	0.98044	-4.68	4.27	4.27	0.50696	.	0.000000	0.32533	U	0.005980	D	0.98257	0.9423	H	0.96547	3.84	0.39721	D	0.971468	B	0.27882	0.192	B	0.35312	0.2	D	0.99955	1.1608	10	0.87932	D	0	.	14.2402	0.65952	0.0:0.0:1.0:0.0	.	77	Q9Y614	ACL7B_HUMAN	F	77	ENSP00000363799:S77F	ENSP00000363799:S77F	S	-	2	0	ACTL7B	110657802	1.000000	0.71417	0.996000	0.52242	0.523000	0.34469	4.772000	0.62324	2.203000	0.70933	0.655000	0.94253	TCC		0.637	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		20	138	0	0	0	0	20	138				
EPB41L4B	54566	broad.mit.edu	37	9	112018730	112018731	+	Missense_Mutation	DNP	GG	GG	AA	rs144325998	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:112018730_112018731GG>AA	ENST00000374566.3	-	8	1299_1300	c.782_783CC>TT	c.(781-783)tCC>tTT	p.S261F	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.S261F	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	261	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATTCAGATAGGAGAGTTCCGC	0.47																																						uc004bdz.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(781-783)TCC>TTT		erythrocyte membrane protein band 4.1 like 4B																																				SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112018730_112018731GG>AA	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.782_783delinsAA	9.37:g.112018730_112018731delinsAA	ENSP00000363694:p.Ser261Phe					EPB41L4B_uc004bea.2_Missense_Mutation_p.S261F	p.S261F	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			8	1077_1078	-			261			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	DNP	ENST00000374566.3	37	c.782_783CC>TT	CCDS43859.1																																																																																				0.470	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		24	123	0	0	0	0	24	123				
AKAP2	11217	broad.mit.edu	37	9	112898501	112898501	+	5'UTR	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:112898501C>T	ENST00000259318.7	+	0	191				AKAP2_ENST00000434623.2_Missense_Mutation_p.S84F|AKAP2_ENST00000510514.5_Missense_Mutation_p.S226F|AKAP2_ENST00000374525.1_Missense_Mutation_p.S84F|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S226F|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.S226F|AKAP2_ENST00000555236.1_Missense_Mutation_p.S226F	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGCTCTCTTTCCCCAGATCAC	0.507																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1372-1374)TCC>TTC		A kinase (PRKA) anchor protein 2 isoform 2							94.0	96.0	96.0					9																	112898501		2203	4300	6503	SO:0001623	5_prime_UTR_variant	445815						enzyme binding	g.chr9:112898501C>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.-17C>T	9.37:g.112898501C>T						PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.S226F|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.S226F|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.S36F|AKAP2_uc011lwi.1_Missense_Mutation_p.S84F|AKAP2_uc004bem.2_Missense_Mutation_p.S84F|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.S44F|AKAP2_uc011lwj.1_5'UTR|PALM2-AKAP2_uc004ben.2_5'UTR	p.S458F	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	1565	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.1373C>T	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583917	0.28268	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388	T;T;T;T;T;T;T	0.51325	2.08;2.08;2.08;2.08;1.29;0.71;0.72	6.17	4.35	0.52113	.	0.683719	0.13150	N	0.409922	T	0.40448	0.1117	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.001;0.001;0.0	B;B;B;B;B;B	0.08055	0.003;0.001;0.001;0.003;0.003;0.001	T	0.33574	-0.9863	10	0.56958	D	0.05	-0.7146	9.4469	0.38703	0.0:0.7875:0.0:0.2125	.	84;78;85;226;226;44	Q9Y2D5-7;B4E2K2;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	.;.;.;.;.;.	F	226;226;226;226;84;84;44	ENSP00000363654:S226F;ENSP00000305861:S226F;ENSP00000451476:S226F;ENSP00000421522:S226F;ENSP00000404782:S84F;ENSP00000363649:S84F;ENSP00000419268:S44F	ENSP00000363649:S84F	S	+	2	0	PALM2-AKAP2;AKAP2	111938322	0.045000	0.20229	0.013000	0.15412	0.073000	0.16967	3.384000	0.52478	0.946000	0.37632	-0.136000	0.14681	TCC		0.507	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		35	124	0	0	0	0	35	124				
SVEP1	79987	broad.mit.edu	37	9	113196736	113196736	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:113196736C>T	ENST00000401783.2	-	30	5275	c.4939G>A	c.(4939-4941)Gat>Aat	p.D1647N	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1624N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1647	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCTTTAAATCTTCAGATGCA	0.517																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(4939-4941)GAT>AAT		polydom							65.0	62.0	63.0					9																	113196736		1964	4176	6140	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113196736C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4939G>A	9.37:g.113196736C>T	ENSP00000384917:p.Asp1647Asn						p.D1647N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			30	5276	-			1647			Sushi 5.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4939G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254275	0.59212	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.24538	1.85;1.85	5.69	3.84	0.44239	Complement control module (2);Sushi/SCR/CCP (3);	0.210988	0.48286	N	0.000183	T	0.21227	0.0511	L	0.45051	1.395	0.80722	D	1	B	0.13145	0.007	B	0.17722	0.019	T	0.04005	-1.0985	10	0.15066	T	0.55	.	12.7331	0.57208	0.0:0.8649:0.0:0.1351	.	1647	Q4LDE5	SVEP1_HUMAN	N	1647;1624	ENSP00000384917:D1647N;ENSP00000363593:D1624N	ENSP00000363593:D1624N	D	-	1	0	SVEP1	112236557	0.746000	0.28272	0.562000	0.28370	0.838000	0.47535	1.467000	0.35321	0.739000	0.32628	0.655000	0.94253	GAT		0.517	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	19	0	0	0	0	15	19				
OR2K2	26248	broad.mit.edu	37	9	114090371	114090371	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:114090371G>A	ENST00000374428.1	-	1	429	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	OR2K2_ENST00000302681.1_Silent_p.L115L			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	144						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)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ATCACGGCCAGGAGCACACAC	0.517																																						uc011lwp.1		NA																	0				ovary(1)	1						c.(343-345)CTG>TTG		olfactory receptor, family 2, subfamily K,							91.0	75.0	81.0					9																	114090371		2203	4300	6503	SO:0001819	synonymous_variant	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090371G>A	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.430C>T	9.37:g.114090371G>A							p.L115L	NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN			1	343	-			144			Helical; Name=3; (Potential).		Q2TA61|Q5VYK4|Q6IFI5	Silent	SNP	ENST00000374428.1	37	c.343C>T																																																																																					0.517	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		13	37	0	0	0	0	13	37				
C9orf84	158401	broad.mit.edu	37	9	114500596	114500596	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:114500596C>T	ENST00000318737.4	-	10	1317	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	C9orf84_ENST00000394777.4_Missense_Mutation_p.E358K|C9orf84_ENST00000374287.3_Missense_Mutation_p.E397K|C9orf84_ENST00000374283.5_Missense_Mutation_p.E461K|C9orf84_ENST00000394779.3_Missense_Mutation_p.E358K	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	397										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAAAATATCTCAATTTTAGTG	0.289																																						uc004bfr.2		NA																	0				ovary(2)	2						c.(1189-1191)GAG>AAG		hypothetical protein LOC158401 isoform 1							101.0	99.0	100.0					9																	114500596		2202	4296	6498	SO:0001583	missense	158401							g.chr9:114500596C>T	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1189G>A	9.37:g.114500596C>T	ENSP00000322108:p.Glu397Lys					C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.E461K|C9orf84_uc004bfq.2_Missense_Mutation_p.E358K|C9orf84_uc010mug.2_Missense_Mutation_p.E343K	p.E397K	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			10	1324	-			397					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.1189G>A	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886768	0.33348	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.61040	0.36;0.36;0.36;0.36;0.14	4.84	2.99	0.34606	.	0.388263	0.22272	N	0.062241	T	0.53302	0.1788	L	0.32530	0.975	0.20873	N	0.999831	B;P;D;D	0.55385	0.291;0.886;0.971;0.971	B;P;P;P	0.53401	0.177;0.457;0.725;0.616	T	0.43621	-0.9380	10	0.66056	D	0.02	-0.0337	7.1426	0.25564	0.0:0.7985:0.0:0.2015	.	358;461;397;358	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	K	358;358;397;397;461	ENSP00000378259:E358K;ENSP00000378257:E358K;ENSP00000363405:E397K;ENSP00000322108:E397K;ENSP00000363401:E461K	ENSP00000322108:E397K	E	-	1	0	C9orf84	113540417	0.413000	0.25400	0.188000	0.23233	0.132000	0.20833	0.934000	0.28910	0.754000	0.32968	0.585000	0.79938	GAG		0.289	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		11	61	0	0	0	0	11	61				
RGS3	5998	broad.mit.edu	37	9	116224447	116224447	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:116224447G>A	ENST00000374140.2	+	4	590	c.381G>A	c.(379-381)agG>agA	p.R127R	RGS3_ENST00000317613.6_5'Flank|RGS3_ENST00000350696.5_Silent_p.R127R	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	127					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCCAGCCAGGAAGAGGATCA	0.537																																						uc004bhq.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(379-381)AGG>AGA		regulator of G-protein signalling 3 isoform 6							79.0	82.0	81.0					9																	116224447		2067	4215	6282	SO:0001819	synonymous_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116224447G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.381G>A	9.37:g.116224447G>A						RGS3_uc004bhr.2_5'Flank|RGS3_uc004bhs.2_5'Flank	p.R127R	NM_144488	NP_652759	P49796	RGS3_HUMAN			4	590	+			127					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	c.381G>A	CCDS43869.1																																																																																				0.537	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		9	74	0	0	0	0	9	74				
COL27A1	85301	broad.mit.edu	37	9	117014918	117014918	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:117014918G>A	ENST00000356083.3	+	26	3470	c.3079G>A	c.(3079-3081)Ggg>Agg	p.G1027R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1027	Collagen-like 7.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGACCCAAGGGGTCGATGGT	0.592																																						uc011lxl.1		NA																	0				ovary(3)|skin(1)	4						c.(3079-3081)GGG>AGG		collagen, type XXVII, alpha 1 precursor							152.0	143.0	146.0					9																	117014918		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117014918G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3079G>A	9.37:g.117014918G>A	ENSP00000348385:p.Gly1027Arg					COL27A1_uc004bii.2_RNA	p.G1027R	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			26	3079	+			1027			Pro-rich.|Collagen-like 7.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3079G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533597	0.64972	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.97959	-4.63	5.24	5.24	0.73138	.	.	.	.	.	D	0.99102	0.9691	H	0.96333	3.805	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.99019	1.0817	9	0.87932	D	0	.	14.2119	0.65771	0.0:0.0:1.0:0.0	.	1027	Q8IZC6	CORA1_HUMAN	R	1027	ENSP00000348385:G1027R	ENSP00000348385:G1027R	G	+	1	0	COL27A1	116054739	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.497000	0.73674	2.724000	0.93272	0.561000	0.74099	GGG		0.592	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		22	117	0	0	0	0	22	117				
AKNA	80709	broad.mit.edu	37	9	117130730	117130730	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:117130730G>A	ENST00000307564.4	-	5	1723	c.1562C>T	c.(1561-1563)tCt>tTt	p.S521F	AKNA_ENST00000374088.3_Missense_Mutation_p.S521F|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.S440F|AKNA_ENST00000312033.3_Missense_Mutation_p.S521F	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	521					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGAGGCCGCAGAGGCCTGGGG	0.667																																						uc004biq.3		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(1561-1563)TCT>TTT		AT-hook transcription factor							29.0	31.0	30.0					9																	117130730		2202	4300	6502	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117130730G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1562C>T	9.37:g.117130730G>A	ENSP00000303769:p.Ser521Phe					AKNA_uc004bio.3_5'UTR|AKNA_uc004bip.3_Missense_Mutation_p.S440F|AKNA_uc004bir.3_Missense_Mutation_p.S521F|AKNA_uc004bis.3_Missense_Mutation_p.S521F|AKNA_uc010mve.2_Missense_Mutation_p.S402F|AKNA_uc004biu.1_Missense_Mutation_p.S262F|AKNA_uc004biv.1_Missense_Mutation_p.S521F	p.S521F	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			4	1697	-			521					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.1562C>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236007	0.58886	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033	T;T;T;T	0.34667	2.57;2.57;2.57;1.35	4.87	3.89	0.44902	.	0.965388	0.08534	N	0.931594	T	0.43787	0.1263	L	0.44542	1.39	0.20638	N	0.999877	D;D	0.56968	0.978;0.962	P;P	0.55545	0.694;0.778	T	0.28004	-1.0057	10	0.62326	D	0.03	-3.983	7.2553	0.26173	0.1211:0.0:0.8789:0.0	.	521;440	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	F	521;362;521;440;521	ENSP00000303769:S521F;ENSP00000363201:S521F;ENSP00000363188:S440F;ENSP00000309222:S521F	ENSP00000303769:S521F	S	-	2	0	AKNA	116170551	0.022000	0.18835	0.008000	0.14137	0.149000	0.21700	1.981000	0.40628	2.526000	0.85167	0.655000	0.94253	TCT		0.667	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		13	60	0	0	0	0	13	60				
TRIM32	22954	broad.mit.edu	37	9	119461243	119461243	+	Missense_Mutation	SNP	C	C	T	rs3747835	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:119461243C>T	ENST00000450136.1	+	2	1383	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R408C|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	408			R -> C (in dbSNP:rs3747835).		fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GAAGGAAATCCGCCGCAGCCC	0.512													C|||	4	0.000798722	0.0	0.0	5008	,	,		19267	0.001		0.002	False		,,,				2504	0.001				Esophageal Squamous(92;212 1916 19711 26951)	uc004bjx.2		NA																	0				central_nervous_system(2)|kidney(1)	3						c.(1222-1224)CGC>TGC		tripartite motif-containing 32		C	CYS/ARG,CYS/ARG,	2,4404	6.2+/-15.9	0,2,2201	95.0	102.0	100.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1222,1222,	5.5	1.0	9	dbSNP_107	100	17,8583	11.9+/-42.8	0,17,4283	yes	missense,missense,intron	TRIM32,ASTN2	NM_001099679.1,NM_012210.3,NM_014010.4	180,180,	0,19,6484	TT,TC,CC		0.1977,0.0454,0.1461	probably-damaging,probably-damaging,	408/654,408/654,	119461243	19,12987	2203	4300	6503	SO:0001583	missense	22954	Bardet-Biedl_syndrome			fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461243C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1222C>T	9.37:g.119461243C>T	ENSP00000408292:p.Arg408Cys					ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R408C	p.R408C	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN			2	1380	+			408					Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1222C>T	CCDS6817.1	4	0.0018315018315018315	0	0.0	0	0.0	2	0.0034965034965034965	2	0.002638522427440633	C	18.44	3.624053	0.66901	4.54E-4	0.001977	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.90504	-2.68;-2.68	5.47	5.47	0.80525	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	N	0.24115	0.695	0.80722	D	1	D	0.67145	0.996	P	0.52598	0.703	D	0.86823	0.2006	9	.	.	.	-19.2882	14.2018	0.65710	0.1495:0.8505:0.0:0.0	rs3747835;rs3747835	408	Q13049	TRI32_HUMAN	C	408	ENSP00000408292:R408C;ENSP00000363095:R408C	.	R	+	1	0	TRIM32	118501064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.405000	0.59741	2.551000	0.86045	0.650000	0.86243	CGC		0.512	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		26	159	0	0	0	0	26	159				
TLR4	7099	broad.mit.edu	37	9	120475272	120475272	+	Missense_Mutation	SNP	G	G	A	rs200276033		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:120475272G>A	ENST00000355622.6	+	3	967	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.R249Q	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	289					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|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 JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GAAGAATTCCGATTAGCATAC	0.363																																						uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(865-867)CGA>CAA		toll-like receptor 4 precursor							94.0	99.0	98.0					9																	120475272		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475272G>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.866G>A	9.37:g.120475272G>A	ENSP00000363089:p.Arg289Gln					TLR4_uc004bka.2_Missense_Mutation_p.R249Q|TLR4_uc004bkb.2_Missense_Mutation_p.R89Q	p.R289Q	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1157	+			289			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.866G>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310332	0.23821	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.38077	1.47;1.16	5.78	2.96	0.34315	.	0.759799	0.11922	N	0.516613	T	0.50922	0.1644	M	0.69358	2.11	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.33854	-0.9852	10	0.41790	T	0.15	.	3.111	0.06359	0.2101:0.1128:0.5484:0.1287	.	289	O00206	TLR4_HUMAN	Q	249;289	ENSP00000377997:R249Q;ENSP00000363089:R289Q	ENSP00000363089:R289Q	R	+	2	0	TLR4	119515093	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.187000	0.16998	0.371000	0.24564	0.655000	0.94253	CGA		0.363	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		24	115	0	0	0	0	24	115				
TLR4	7099	broad.mit.edu	37	9	120476800	120476800	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:120476800G>A	ENST00000355622.6	+	3	2495	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.E758E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	798	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|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 JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TGGAGTGGGAGGACAGTGTCC	0.542																																						uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(2392-2394)GAG>GAA		toll-like receptor 4 precursor							90.0	92.0	91.0					9																	120476800		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476800G>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2394G>A	9.37:g.120476800G>A						TLR4_uc004bka.2_Silent_p.E758E|TLR4_uc004bkb.2_Silent_p.E598E	p.E798E	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2685	+			798			Cytoplasmic (Potential).|TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.2394G>A	CCDS6818.1																																																																																				0.542	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		38	75	0	0	0	0	38	75				
CDK5RAP2	55755	broad.mit.edu	37	9	123313139	123313139	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123313139G>A	ENST00000349780.4	-	4	416	c.237C>T	c.(235-237)ctC>ctT	p.L79L	CDK5RAP2_ENST00000360190.4_Silent_p.L79L|CDK5RAP2_ENST00000359309.3_Silent_p.L79L|CDK5RAP2_ENST00000360822.3_Silent_p.L79L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	79					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AATAGATGCGGAGCTTTAGGT	0.393																																						uc004bkf.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(235-237)CTC>CTT		CDK5 regulatory subunit associated protein 2							124.0	127.0	126.0					9																	123313139		2203	4300	6503	SO:0001819	synonymous_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123313139G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.237C>T	9.37:g.123313139G>A						CDK5RAP2_uc004bkg.2_Silent_p.L79L|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Silent_p.L79L	p.L79L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			4	418	-			79					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	c.237C>T	CCDS6823.1																																																																																				0.393	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		17	129	0	0	0	0	17	129				
C5	727	broad.mit.edu	37	9	123737102	123737102	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123737102A>G	ENST00000223642.1	-	30	4001	c.3972T>C	c.(3970-3972)caT>caC	p.H1324H		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1324					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTTTATAATTATGTAAGGCAC	0.388																																						uc004bkv.2		NA																	0				ovary(2)	2						c.(3970-3972)CAT>CAC		complement component 5 preproprotein	Eculizumab(DB01257)						135.0	136.0	136.0					9																	123737102		2203	4300	6503	SO:0001819	synonymous_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123737102A>G	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3972T>C	9.37:g.123737102A>G							p.H1324H	NM_001735	NP_001726	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	30	4002	-			1324					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.3972T>C	CCDS6826.1																																																																																				0.388	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		19	128	0	0	0	0	19	128				
C5	727	broad.mit.edu	37	9	123744130	123744130	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123744130G>A	ENST00000223642.1	-	27	3507	c.3478C>T	c.(3478-3480)Ccc>Tcc	p.P1160S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1160					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	ACCACCAGGGGGCATATATCG	0.413																																						uc004bkv.2		NA																	0				ovary(2)	2						c.(3478-3480)CCC>TCC		complement component 5 preproprotein	Eculizumab(DB01257)						79.0	75.0	76.0					9																	123744130		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123744130G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3478C>T	9.37:g.123744130G>A	ENSP00000223642:p.Pro1160Ser						p.P1160S	NM_001735	NP_001726	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	27	3508	-			1160					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.3478C>T	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	9.172	1.021462	0.19433	.	.	ENSG00000106804	ENST00000223642	T	0.36699	1.24	4.85	0.954	0.19595	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.623617	0.15959	N	0.236348	T	0.41050	0.1142	L	0.49455	1.56	0.35025	D	0.758198	P	0.48294	0.908	P	0.53035	0.716	T	0.48410	-0.9038	10	0.38643	T	0.18	.	9.1046	0.36689	0.3026:0.0:0.6974:0.0	.	1160	P01031	CO5_HUMAN	S	1160	ENSP00000223642:P1160S	ENSP00000223642:P1160S	P	-	1	0	C5	122783951	1.000000	0.71417	0.157000	0.22605	0.070000	0.16714	1.736000	0.38187	-0.016000	0.14127	-0.147000	0.13772	CCC		0.413	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		6	33	0	0	0	0	6	33				
CNTRL	11064	broad.mit.edu	37	9	123880719	123880719	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123880719G>C	ENST00000373855.1	+	12	1811	c.1551G>C	c.(1549-1551)ctG>ctC	p.L517L	CNTRL_ENST00000373865.2_3'UTR|CNTRL_ENST00000238341.5_Silent_p.L517L|CNTRL_ENST00000373850.1_5'Flank			Q7Z7A1	CNTRL_HUMAN	centriolin	517					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATCTAGAACTGCAGATGGAAA	0.418																																						uc004bkx.1		NA																	0					0						c.(1549-1551)CTG>CTC		centrosomal protein 110kDa							114.0	119.0	118.0					9																	123880719		2203	4300	6503	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123880719G>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1551G>C	9.37:g.123880719G>C						CEP110_uc004bky.1_Silent_p.L121L	p.L517L	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			10	1582	+			517			Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.1551G>C	CCDS35118.1																																																																																				0.418	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		28	125	0	0	0	0	28	125				
MRRF	92399	broad.mit.edu	37	9	125042818	125042818	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:125042818C>T	ENST00000344641.3	+	3	592	c.281C>T	c.(280-282)tCt>tTt	p.S94F	MRRF_ENST00000373730.3_Missense_Mutation_p.S94F|MRRF_ENST00000373723.5_Missense_Mutation_p.S94F|MRRF_ENST00000297908.3_Intron|MRRF_ENST00000394315.3_Missense_Mutation_p.S94F|MRRF_ENST00000373729.1_Missense_Mutation_p.S50F|MRRF_ENST00000373724.1_3'UTR|MRRF_ENST00000546115.1_Missense_Mutation_p.S94F	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	94					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						GAAATGAAGTCTGTGATAGAA	0.408																																						uc004bmb.2		NA																	0				ovary(2)|skin(1)	3						c.(280-282)TCT>TTT		mitochondrial ribosome recycling factor isoform							112.0	114.0	113.0					9																	125042818		2203	4300	6503	SO:0001583	missense	92399				ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity	g.chr9:125042818C>T	AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.281C>T	9.37:g.125042818C>T	ENSP00000343867:p.Ser94Phe					MRRF_uc004bmc.2_Missense_Mutation_p.S94F|MRRF_uc011lyq.1_Missense_Mutation_p.S115F|MRRF_uc010mvz.1_RNA|MRRF_uc010mwa.2_Missense_Mutation_p.S94F|MRRF_uc011lyr.1_Intron|MRRF_uc004bmd.2_Missense_Mutation_p.S94F|MRRF_uc004bme.2_RNA	p.S94F	NM_138777	NP_620132	Q96E11	RRFM_HUMAN			3	396	+			94					A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Missense_Mutation	SNP	ENST00000344641.3	37	c.281C>T	CCDS6840.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311241	0.60414	.	.	ENSG00000148187	ENST00000373723;ENST00000373730;ENST00000546115;ENST00000344641;ENST00000441707;ENST00000373729;ENST00000373727;ENST00000373728;ENST00000373724;ENST00000394315	T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	6.08	6.08	0.98989	Ribosome recycling factor domain (1);	0.203730	0.52532	D	0.000079	T	0.58075	0.2097	L	0.47716	1.5	0.80722	D	1	D;D;P	0.76494	0.999;0.995;0.93	D;P;P	0.73380	0.98;0.834;0.459	T	0.57406	-0.7817	10	0.87932	D	0	-17.6492	15.166	0.72825	0.0:0.8596:0.1404:0.0	.	94;94;94	Q96E11-5;Q96E11-2;Q96E11	.;.;RRFM_HUMAN	F	94;94;94;94;94;50;94;94;50;94	ENSP00000362828:S94F;ENSP00000362835:S94F;ENSP00000445588:S94F;ENSP00000343867:S94F;ENSP00000395072:S94F;ENSP00000362834:S50F;ENSP00000362832:S94F;ENSP00000362833:S94F;ENSP00000362829:S50F;ENSP00000377850:S94F	ENSP00000343867:S94F	S	+	2	0	MRRF	124082639	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.946000	0.56644	2.894000	0.99253	0.655000	0.94253	TCT		0.408	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777		29	45	0	0	0	0	29	45				
OR1L4	254973	broad.mit.edu	37	9	125487082	125487082	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:125487082G>A	ENST00000259466.1	+	1	814	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGTGATGAAGGGCCGGGTAGC	0.468																																						uc004bmu.1		NA																	0					0						c.(814-816)GGC>AGC		olfactory receptor, family 1, subfamily L,							101.0	96.0	98.0					9																	125487082		2203	4300	6503	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125487082G>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.814G>A	9.37:g.125487082G>A	ENSP00000259466:p.Gly272Ser						p.G272S	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	814	+			272			Extracellular (Potential).		Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.814G>A	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	8.100	0.776546	0.16120	.	.	ENSG00000136939	ENST00000259466	T	0.00063	8.78	4.23	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.210140	0.33650	N	0.004692	T	0.00109	0.0003	L	0.31752	0.955	0.19300	N	0.999976	B	0.06786	0.001	B	0.11329	0.006	T	0.42515	-0.9447	10	0.02654	T	1	-16.9001	15.6066	0.76679	0.0:0.0:1.0:0.0	.	272	Q8NGR5	OR1L4_HUMAN	S	272	ENSP00000259466:G272S	ENSP00000259466:G272S	G	+	1	0	OR1L4	124526903	0.001000	0.12720	0.999000	0.59377	0.103000	0.19146	0.470000	0.22084	2.193000	0.70182	0.298000	0.19748	GGC		0.468	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			28	52	0	0	0	0	28	52				
CRB2	286204	broad.mit.edu	37	9	126132586	126132586	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:126132586G>A	ENST00000373631.3	+	7	1255	c.1254G>A	c.(1252-1254)ggG>ggA	p.G418G	CRB2_ENST00000373629.2_Silent_p.G86G|CRB2_ENST00000359999.3_Silent_p.G418G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	418	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCGAGTCTGGGGTCCACAGTT	0.622																																						uc004bnx.1		NA																	0				ovary(1)	1						c.(1252-1254)GGG>GGA		crumbs homolog 2 precursor							41.0	46.0	45.0					9																	126132586		2203	4300	6503	SO:0001819	synonymous_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132586G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1254G>A	9.37:g.126132586G>A						CRB2_uc004bnw.1_Silent_p.G418G	p.G418G	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			7	1346	+			418			Extracellular (Potential).|EGF-like 9.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	c.1254G>A	CCDS6852.2																																																																																				0.622	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		7	30	0	0	0	0	7	30				
MAPKAP1	79109	broad.mit.edu	37	9	128321983	128321983	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:128321983G>A	ENST00000373498.1	-	5	845	c.777C>T	c.(775-777)ttC>ttT	p.F259F	MAPKAP1_ENST00000394063.1_Silent_p.F67F|MAPKAP1_ENST00000373503.3_Silent_p.F67F|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373511.2_Silent_p.F259F|MAPKAP1_ENST00000394060.3_Silent_p.F259F|MAPKAP1_ENST00000265960.3_Silent_p.F259F|MAPKAP1_ENST00000350766.3_Silent_p.F259F			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	259	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CCAAAGTACTGAAGCCAAACT	0.483																																						uc004bpv.2		NA																	0				ovary(2)|lung(2)	4						c.(775-777)TTC>TTT		mitogen-activated protein kinase associated							98.0	84.0	89.0					9																	128321983		2203	4300	6503	SO:0001819	synonymous_variant	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128321983G>A	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.777C>T	9.37:g.128321983G>A						MAPKAP1_uc011lzt.1_Silent_p.F62F|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.F62F|MAPKAP1_uc011lzv.1_Intron|MAPKAP1_uc004bpw.2_Silent_p.F67F|MAPKAP1_uc004bpx.2_Silent_p.F67F|MAPKAP1_uc004bpy.2_Silent_p.F259F|MAPKAP1_uc004bpz.2_Silent_p.F259F|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.F62F|MAPKAP1_uc004bqa.2_Silent_p.F259F|MAPKAP1_uc010mxc.1_Silent_p.F131F	p.F259F	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN			6	1110	-			259					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	ENST00000373498.1	37	c.777C>T	CCDS35140.1																																																																																				0.483	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			7	47	0	0	0	0	7	47				
RALGPS1	9649	broad.mit.edu	37	9	129931022	129931022	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:129931022C>T	ENST00000259351.5	+	10	1080	c.813C>T	c.(811-813)ctC>ctT	p.L271L	RALGPS1_ENST00000394022.3_Silent_p.L271L|RALGPS1_ENST00000373434.1_Silent_p.L271L|RALGPS1_ENST00000424082.2_Silent_p.L271L|RALGPS1_ENST00000373436.1_Silent_p.L271L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	271	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TTGAAGAGCTCCAGAAGTTTG	0.517																																						uc004bqo.1		NA																	0				ovary(1)	1						c.(811-813)CTC>CTT		Ral GEF with PH domain and SH3 binding motif 1							177.0	156.0	163.0					9																	129931022		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129931022C>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.813C>T	9.37:g.129931022C>T						RALGPS1_uc011mab.1_Silent_p.L271L|RALGPS1_uc011mac.1_Silent_p.L271L|RALGPS1_uc004bqq.3_Silent_p.L271L	p.L271L	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN			10	1080	+			271			Ras-GEF.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.813C>T	CCDS35143.1																																																																																				0.517	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		19	136	0	0	0	0	19	136				
PTRH1	138428	broad.mit.edu	37	9	130476448	130476448	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:130476448C>T	ENST00000419060.1	-	6	2032	c.576G>A	c.(574-576)ctG>ctA	p.L192L	TTC16_ENST00000373289.3_5'Flank|C9orf117_ENST00000464092.1_3'UTR|TTC16_ENST00000393748.4_5'Flank|C9orf117_ENST00000373293.5_Intron|PTRH1_ENST00000429848.1_5'Flank|PTRH1_ENST00000543175.1_Silent_p.L192L|PTRH1_ENST00000423807.1_Nonsense_Mutation_p.W177*			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	192						mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						TGGCTCGATCCAGCAACAGAG	0.667																																						uc004bro.2		NA																	0					0						c.(574-576)CTG>CTA		peptidyl-tRNA hydrolase 1 homolog							33.0	35.0	34.0					9																	130476448		2203	4299	6502	SO:0001819	synonymous_variant	138428				translation		aminoacyl-tRNA hydrolase activity|protein binding	g.chr9:130476448C>T	AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 115"""	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000419060.1:c.576G>A	9.37:g.130476448C>T						PTRH1_uc004brm.2_Intron|PTRH1_uc010mxm.2_Nonsense_Mutation_p.W190*|PTRH1_uc011mah.1_Silent_p.L205L|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank|TTC16_uc004brr.1_5'Flank	p.L192L	NM_001002913	NP_001002913	Q86Y79	PTH_HUMAN			5	594	-			192						Silent	SNP	ENST00000419060.1	37	c.576G>A	CCDS35147.1	.	.	.	.	.	.	.	.	.	.	C	37	6.429786	0.97559	.	.	ENSG00000187024	ENST00000423807	.	.	.	4.76	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5511	11.047	0.47865	0.0:0.9071:0.0:0.0929	.	.	.	.	X	177	.	ENSP00000418219:W177X	W	-	2	0	PTRH1	129516269	1.000000	0.71417	0.927000	0.36925	0.992000	0.81027	2.174000	0.42482	1.145000	0.42336	0.462000	0.41574	TGG		0.667	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054219.4	NM_001002913		5	37	0	0	0	0	5	37				
ENG	2022	broad.mit.edu	37	9	130581106	130581106	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:130581106C>T	ENST00000373203.4	-	11	1717	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_Intron|ENG_ENST00000344849.3_Silent_p.K439K|RP11-228B15.4_ENST00000425991.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	439	Ser/Thr-rich.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGCAGTGCACCTTTTTCTGGG	0.637									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													uc004bsj.3		NA																	0					0	GRCh37	CI050926	ENG	I		c.(1315-1317)AAG>AAA		endoglin isoform 1 precursor							158.0	150.0	152.0					9																	130581106		2203	4300	6503	SO:0001819	synonymous_variant	2022	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130581106C>T	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1317G>A	9.37:g.130581106C>T						ENG_uc011mam.1_Silent_p.K250K|ENG_uc004bsk.3_Silent_p.K439K|uc004bsl.1_Intron	p.K439K	NM_001114753	NP_001108225	P17813	EGLN_HUMAN			11	1730	-			439			Ser/Thr-rich.|Extracellular (Potential).		Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	c.1317G>A	CCDS48029.1																																																																																				0.637	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			77	158	0	0	0	0	77	158				
ASS1	445	broad.mit.edu	37	9	133346897	133346897	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:133346897C>T	ENST00000372394.1	+	9	1073	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	ASS1_ENST00000352480.5_Missense_Mutation_p.P198S|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Missense_Mutation_p.P198S			P00966	ASSY_HUMAN	argininosuccinate synthase 1	198					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCTGGAGAACCCCAAGGTAAT	0.562																																						uc004bzm.2		NA																	0				ovary(1)	1						c.(592-594)CCC>TCC		argininosuccinate synthetase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						107.0	102.0	104.0					9																	133346897		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133346897C>T	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.592C>T	9.37:g.133346897C>T	ENSP00000361471:p.Pro198Ser					ASS1_uc004bzn.2_Missense_Mutation_p.P198S|ASS1_uc010mza.2_Missense_Mutation_p.P274S|ASS1_uc004bzo.2_Missense_Mutation_p.P179S|ASS1_uc010mzb.2_Missense_Mutation_p.P236S|ASS1_uc004bzp.2_Missense_Mutation_p.P198S|ASS1_uc010mzc.2_Missense_Mutation_p.P198S	p.P198S	NM_000050	NP_000041	P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	9	948	+			198					Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.592C>T	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866494	0.91511	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000422569;ENST00000443588	D;D;D;D;D	0.99287	-5.69;-5.69;-5.69;-5.69;-5.69	5.56	5.56	0.83823	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.85682	U	0.000000	D	0.99585	0.9850	H	0.95402	3.665	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.71656	0.955;0.974;0.974;0.955;0.955	D	0.98005	1.0362	10	0.87932	D	0	.	16.2641	0.82565	0.0:1.0:0.0:0.0	.	198;81;81;198;198	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	S	198;198;198;198;198;179	ENSP00000253004:P198S;ENSP00000361471:P198S;ENSP00000361469:P198S;ENSP00000394212:P198S;ENSP00000397785:P179S	ENSP00000361470:P198S	P	+	1	0	ASS1	132336718	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.187000	0.72039	2.606000	0.88127	0.561000	0.74099	CCC		0.562	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		19	35	0	0	0	0	19	35				
FUBP3	8939	broad.mit.edu	37	9	133506164	133506164	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:133506164G>A	ENST00000319725.9	+	13	1342	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	423					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCTCATAGATGAGAAAGTTGG	0.567																																						uc004bzr.1		NA																	0				ovary(1)	1						c.(1267-1269)GAG>AAG		far upstream element (FUSE) binding protein 3							48.0	53.0	51.0					9																	133506164		2007	4172	6179	SO:0001583	missense	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133506164G>A	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1267G>A	9.37:g.133506164G>A	ENSP00000318177:p.Glu423Lys					FUBP3_uc004bzs.1_Missense_Mutation_p.E336K	p.E423K	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	13	1375	+			423					A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	c.1267G>A	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	G	34	5.377512	0.95945	.	.	ENSG00000107164	ENST00000319725	T	0.63913	-0.07	5.53	5.53	0.82687	K Homology (1);	0.091121	0.85682	D	0.000000	T	0.62282	0.2415	L	0.52573	1.65	0.80722	D	1	P;P	0.45594	0.862;0.862	B;B	0.43575	0.424;0.424	T	0.63075	-0.6718	10	0.41790	T	0.15	-27.8736	18.4501	0.90700	0.0:0.0:1.0:0.0	.	423;423	A3KFK8;Q96I24	.;FUBP3_HUMAN	K	423	ENSP00000318177:E423K	ENSP00000318177:E423K	E	+	1	0	FUBP3	132495985	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.869000	0.99810	2.592000	0.87571	0.655000	0.94253	GAG		0.567	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			11	25	0	0	0	0	11	25				
LAMC3	10319	broad.mit.edu	37	9	133928244	133928244	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:133928244G>A	ENST00000361069.4	+	11	1964	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	611	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAGCCTGCAGGAGACCTCCGA	0.687											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1831-1833)GAG>AAG		laminin, gamma 3 precursor							48.0	44.0	46.0					9																	133928244		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133928244G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1831G>A	9.37:g.133928244G>A	ENSP00000354360:p.Glu611Lys		OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606		p.E611K	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	11	1929	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	611			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1831G>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330028	0.95733	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.62788	0.0	5.65	5.65	0.86999	Laminin B type IV (2);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.85462	2.755	0.48185	D	0.999605	D	0.89917	1.0	D	0.85130	0.997	T	0.76977	-0.2759	10	0.18710	T	0.47	.	16.4597	0.84032	0.0:0.0:1.0:0.0	.	611	Q9Y6N6	LAMC3_HUMAN	K	611	ENSP00000354360:E611K	ENSP00000347156:E611K	E	+	1	0	LAMC3	132918065	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.401000	0.79962	2.655000	0.90218	0.655000	0.94253	GAG		0.687	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		21	44	0	0	0	0	21	44				
AK8	158067	broad.mit.edu	37	9	135698629	135698629	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:135698629C>T	ENST00000298545.3	-	9	1373	c.852G>A	c.(850-852)caG>caA	p.Q284Q	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	284	Adenylate kinase 2.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GGAGGGCGGCCTGCAGACTTT	0.617																																						uc004cbu.1		NA																	0					0						c.(850-852)CAG>CAA		putative adenylate kinase-like protein C9orf98							105.0	114.0	111.0					9																	135698629		2203	4300	6503	SO:0001819	synonymous_variant	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135698629C>T	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.852G>A	9.37:g.135698629C>T						C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Silent_p.Q80Q	p.Q284Q	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	9	1408	-			284			Adenylate kinase.		A8K821|Q8N9W9	Silent	SNP	ENST00000298545.3	37	c.852G>A	CCDS6954.1																																																																																				0.617	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		28	174	0	0	0	0	28	174				
TSC1	7248	broad.mit.edu	37	9	135781032	135781032	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:135781032G>A	ENST00000298552.3	-	15	2154	c.1933C>T	c.(1933-1935)Cca>Tca	p.P645S	TSC1_ENST00000440111.2_Missense_Mutation_p.P645S|TSC1_ENST00000545250.1_Missense_Mutation_p.P594S	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	645					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACTTCCATTGGGGAGGTAGAG	0.498			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2		NA	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			1	Unknown(1)	p.?(1)	bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(1933-1935)CCA>TCA		tuberous sclerosis 1 protein isoform 1							229.0	194.0	206.0					9																	135781032		2203	4300	6503	SO:0001583	missense	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135781032G>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1933C>T	9.37:g.135781032G>A	ENSP00000298552:p.Pro645Ser					TSC1_uc004ccb.3_Missense_Mutation_p.P644S|TSC1_uc011mcq.1_Missense_Mutation_p.P594S|TSC1_uc011mcr.1_Intron	p.P645S	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	15	2167	-			645					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.1933C>T	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842988	0.91197	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.91011	-2.77;-2.77;-2.77	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.95319	0.8481	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94710	0.7891	10	0.54805	T	0.06	-10.7077	19.354	0.94404	0.0:0.0:1.0:0.0	.	594;645	B7Z897;Q92574	.;TSC1_HUMAN	S	645;645;594	ENSP00000298552:P645S;ENSP00000394524:P645S;ENSP00000444017:P594S	ENSP00000298552:P645S	P	-	1	0	TSC1	134770853	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.624000	0.98398	2.820000	0.97059	0.650000	0.86243	CCA		0.498	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			13	106	0	0	0	0	13	106				
GTF3C5	9328	broad.mit.edu	37	9	135917600	135917600	+	Missense_Mutation	SNP	C	C	T	rs201326108		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:135917600C>T	ENST00000372097.5	+	2	603	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000342018.8_Missense_Mutation_p.R94W|GTF3C5_ENST00000372099.6_Missense_Mutation_p.R85W|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R94W	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	94					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GAGAACGAGGCGGCAGAAAGG	0.572																																						uc004cci.3		NA																	0					0						c.(280-282)CGG>TGG		general transcription factor IIIC, polypeptide 5							81.0	83.0	82.0					9																	135917600		2203	4300	6503	SO:0001583	missense	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135917600C>T	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.280C>T	9.37:g.135917600C>T	ENSP00000361169:p.Arg94Trp					GTF3C5_uc010mzz.2_Intron|GTF3C5_uc004ccj.3_Missense_Mutation_p.R94W	p.R94W	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	2	617	+			94					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	c.280C>T	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402711	0.83230	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372108;ENST00000342018	T;T;T;T	0.53857	0.69;0.68;0.69;0.6	5.34	3.32	0.38043	.	0.227220	0.42294	D	0.000731	T	0.70885	0.3275	M	0.81942	2.565	0.09310	N	0.999995	D;D	0.89917	0.999;1.0	D;D	0.70935	0.928;0.971	T	0.64153	-0.6474	10	0.72032	D	0.01	-27.3915	12.6213	0.56605	0.3925:0.6075:0.0:0.0	.	94;94	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	W	94;47;85;94;94	ENSP00000361169:R94W;ENSP00000361171:R85W;ENSP00000361180:R94W;ENSP00000339530:R94W	ENSP00000339530:R94W	R	+	1	2	GTF3C5	134907421	0.657000	0.27393	0.013000	0.15412	0.749000	0.42624	0.341000	0.19909	1.197000	0.43143	0.655000	0.94253	CGG		0.572	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		15	131	0	0	0	0	15	131				
GBGT1	26301	broad.mit.edu	37	9	136029195	136029195	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:136029195C>T	ENST00000372040.3	-	7	1124	c.813G>A	c.(811-813)agG>agA	p.R271R	GBGT1_ENST00000372043.3_Missense_Mutation_p.G265E|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Silent_p.R254R	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	271					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACTCATATACCCTGGCCACCT	0.592																																						uc004ccw.2		NA																	0					0						c.(811-813)AGG>AGA		globoside							78.0	76.0	77.0					9																	136029195		2203	4300	6503	SO:0001819	synonymous_variant	26301				carbohydrate metabolic process|glycolipid biosynthetic process	Golgi membrane|integral to membrane	metal ion binding	g.chr9:136029195C>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.813G>A	9.37:g.136029195C>T						RALGDS_uc011mcw.1_Intron|GBGT1_uc004ccx.2_Silent_p.R224R|GBGT1_uc010nab.2_3'UTR|GBGT1_uc011mcx.1_Silent_p.R254R|GBGT1_uc010nac.1_Silent_p.R135R|GBGT1_uc004ccy.1_3'UTR	p.R271R	NM_021996	NP_068836	Q8N5D6	GBGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	7	1094	-			271			Lumenal (Potential).		A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Silent	SNP	ENST00000372040.3	37	c.813G>A	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	C	4.218	0.039278	0.08148	.	.	ENSG00000148288	ENST00000372043	T	0.27104	1.69	5.25	-10.5	0.00291	.	.	.	.	.	T	0.19725	0.0474	.	.	.	0.35745	D	0.818946	.	.	.	.	.	.	T	0.50825	-0.8782	6	0.87932	D	0	-0.0092	0.7934	0.01061	0.2382:0.2321:0.2929:0.2367	.	.	.	.	E	265	ENSP00000361113:G265E	ENSP00000361113:G265E	G	-	2	0	GBGT1	135019016	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-1.501000	0.02281	-2.991000	0.00279	-0.314000	0.08810	GGG		0.592	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		10	96	0	0	0	0	10	96				
ADAMTS13	11093	broad.mit.edu	37	9	136314957	136314957	+	Missense_Mutation	SNP	G	G	A	rs139951127		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:136314957G>A	ENST00000371929.3	+	23	3359	c.2915G>A	c.(2914-2916)cGg>cAg	p.R972Q	ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R972Q|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R941Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	972	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGGTCGTGCGGAGGATCCTG	0.667																																						uc004cdv.3		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(2914-2916)CGG>CAG		ADAM metallopeptidase with thrombospondin type 1		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	80.0	92.0	88.0		2915,2822,2915	-4.1	0.0	9	dbSNP_134	88	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	ADAMTS13	NM_139025.3,NM_139026.3,NM_139027.3	43,43,43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign	972/1428,941/1341,972/1372	136314957	3,13003	2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136314957G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2915G>A	9.37:g.136314957G>A	ENSP00000360997:p.Arg972Gln					ADAMTS13_uc004cdp.3_Missense_Mutation_p.R199Q|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R972Q|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R941Q|ADAMTS13_uc004cdw.3_Missense_Mutation_p.R972Q|ADAMTS13_uc004cdx.3_Missense_Mutation_p.R941Q|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.R642Q	p.R972Q	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	23	3359	+			972			TSP type-1 6.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.2915G>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	1.631	-0.518886	0.04171	0.0	3.49E-4	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.61040	0.14;0.14;0.14	4.24	-4.1	0.03940	.	.	.	.	.	T	0.37489	0.1005	N	0.20401	0.57	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.003;0.002;0.002	T	0.21655	-1.0239	9	0.23891	T	0.37	.	12.1682	0.54141	0.7185:0.0:0.2815:0.0	.	972;941;972	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	Q	972;972;941	ENSP00000360997:R972Q;ENSP00000347927:R972Q;ENSP00000348997:R941Q	ENSP00000347927:R972Q	R	+	2	0	ADAMTS13	135304778	0.000000	0.05858	0.001000	0.08648	0.278000	0.26855	-0.583000	0.05807	-0.788000	0.04504	-0.263000	0.10527	CGG		0.667	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		27	95	0	0	0	0	27	95				
COL5A1	1289	broad.mit.edu	37	9	137623462	137623462	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:137623462G>A	ENST00000371817.3	+	8	1699	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	429	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCCCGTCGGAGATCGGGCC	0.632																																						uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(1285-1287)GAG>AAG		alpha 1 type V collagen preproprotein							97.0	93.0	94.0					9																	137623462		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137623462G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1285G>A	9.37:g.137623462G>A	ENSP00000360882:p.Glu429Lys						p.E429K	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	8	1667	+		Myeloproliferative disorder(178;0.0341)	429			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1285G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051508	0.36181	.	.	ENSG00000130635	ENST00000371817	D	0.89681	-2.55	4.06	4.06	0.47325	.	0.175501	0.36815	U	0.002382	T	0.79088	0.4387	N	0.22421	0.69	0.33421	D	0.579813	P	0.37781	0.608	B	0.26864	0.074	D	0.84993	0.0895	10	0.46703	T	0.11	.	14.4191	0.67171	0.0:0.0:1.0:0.0	.	429	P20908	CO5A1_HUMAN	K	429	ENSP00000360882:E429K	ENSP00000360882:E429K	E	+	1	0	COL5A1	136763283	1.000000	0.71417	0.226000	0.23910	0.010000	0.07245	5.663000	0.68038	1.799000	0.52666	0.313000	0.20887	GAG		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		20	150	0	0	0	0	20	150				
COL5A1	1289	broad.mit.edu	37	9	137704485	137704485	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:137704485C>T	ENST00000371817.3	+	48	4193	c.3779C>T	c.(3778-3780)tCc>tTc	p.S1260F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1260	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGAGGACCCTCCGGAGCTCCA	0.632																																						uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(3778-3780)TCC>TTC		alpha 1 type V collagen preproprotein							28.0	26.0	27.0					9																	137704485		2201	4300	6501	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137704485C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3779C>T	9.37:g.137704485C>T	ENSP00000360882:p.Ser1260Phe						p.S1260F	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	48	4161	+		Myeloproliferative disorder(178;0.0341)	1260			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3779C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855391	0.71719	.	.	ENSG00000130635	ENST00000371817	D	0.93547	-3.24	4.77	4.77	0.60923	.	0.072899	0.56097	U	0.000023	D	0.92880	0.7735	L	0.41824	1.3	0.54753	D	0.999988	D	0.62365	0.991	P	0.51016	0.656	D	0.93829	0.7126	10	0.66056	D	0.02	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	1260	P20908	CO5A1_HUMAN	F	1260	ENSP00000360882:S1260F	ENSP00000360882:S1260F	S	+	2	0	COL5A1	136844306	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.598000	0.67585	2.200000	0.70718	0.643000	0.83706	TCC		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		3	15	0	0	0	0	3	15				
SEC16A	9919	broad.mit.edu	37	9	139338337	139338337	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:139338337G>A	ENST00000371706.3	-	27	6307	c.6274C>T	c.(6274-6276)Cct>Tct	p.P2092S	SEC16A_ENST00000313084.5_Missense_Mutation_p.P343S|SEC16A_ENST00000431893.2_Missense_Mutation_p.P2112S|SEC16A_ENST00000467838.1_5'UTR|SEC16A_ENST00000313050.7_Missense_Mutation_p.P2315S|SEC16A_ENST00000290037.6_Missense_Mutation_p.P2117S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2137	Pro-rich.|Required for interaction with SEC23A.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCTGCAGCAGGGAGGTCGCCA	0.612																																						uc004chx.2		NA																	0					0						c.(6943-6945)CCT>TCT		SEC16 homolog A							44.0	52.0	50.0					9																	139338337		2084	4216	6300	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139338337G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.6274C>T	9.37:g.139338337G>A	ENSP00000360771:p.Pro2092Ser					SEC16A_uc004chp.2_RNA|SEC16A_uc004chq.2_Missense_Mutation_p.P158S|SEC16A_uc011mea.1_Missense_Mutation_p.P155S|SEC16A_uc004chr.2_Missense_Mutation_p.P343S|SEC16A_uc004chs.2_Missense_Mutation_p.P155S|SEC16A_uc004cht.2_Missense_Mutation_p.P365S|SEC16A_uc004chu.2_Missense_Mutation_p.P522S|SEC16A_uc004chv.3_Missense_Mutation_p.P1685S|SEC16A_uc004chw.2_Missense_Mutation_p.P2290S|SEC16A_uc010nbn.2_Missense_Mutation_p.P2292S	p.P2315S	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	31	7252	-		Myeloproliferative disorder(178;0.0511)	2137			Required for interaction with SEC23A.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.6943C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.69|11.69	1.714609|1.714609	0.30413|0.30413	.|.	.|.	ENSG00000148396|ENSG00000148396	ENST00000433860|ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000313084;ENST00000537660;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	.|T;T;T;T;T;T	.|0.49432	.|1.75;0.78;1.43;1.88;1.81;1.74	4.16|4.16	-2.0|-2.0	0.07433|0.07433	.|.	0.376530|0.376530	0.26642|0.26642	N|N	0.023255|0.023255	T|T	0.38214|0.38214	0.1032|0.1032	L|L	0.43923|0.43923	1.385|1.385	0.23492|0.23492	N|N	0.99756|0.99756	.|P;B;B;B;B;B;P;P;P	.|0.49253	.|0.921;0.267;0.272;0.386;0.267;0.267;0.774;0.879;0.921	.|B;B;B;B;B;B;P;B;B	.|0.44946	.|0.251;0.086;0.106;0.178;0.039;0.039;0.465;0.233;0.251	T|T	0.40384|0.40384	-0.9566|-0.9566	6|10	.|0.45353	.|T	.|0.12	0.225|0.225	10.1391|10.1391	0.42725|0.42725	0.0882:0.5654:0.3464:0.0|0.0882:0.5654:0.3464:0.0	.|.	.|155;2292;2159;2112;1685;2137;692;343;158	.|B4DY06;F1T0I1;O15027-5;O15027-4;A4QN19;O15027;C9JVR0;Q8N9G1;F6VLX6	.|.;.;.;.;.;SC16A_HUMAN;.;.;.	L|S	463|2315;709;1017;2092;343;158;2117;2112;1685;692	.|ENSP00000325827:P2315S;ENSP00000277537:P709S;ENSP00000403525:P1017S;ENSP00000360771:P2092S;ENSP00000290037:P2117S;ENSP00000387583:P2112S	.|ENSP00000277537:P709S	P|P	-|-	2|1	0|0	SEC16A|SEC16A	138458158|138458158	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.282000|0.282000	0.26991|0.26991	-0.085000|-0.085000	0.11250|0.11250	-0.711000|-0.711000	0.04995|0.04995	0.400000|0.400000	0.26472|0.26472	CCC|CCT		0.612	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		4	44	0	0	0	0	4	44				
ENTPD2	954	broad.mit.edu	37	9	139944949	139944949	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:139944949G>A	ENST00000355097.2	-	6	863	c.816C>T	c.(814-816)acC>acT	p.T272T	RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000460614.1_5'Flank|ENTPD2_ENST00000312665.5_Silent_p.T272T	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	272					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGCACTTGGGTGGAAAAGC	0.647											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004ckw.1		NA																	0					0						c.(814-816)ACC>ACT		ectonucleoside triphosphate diphosphohydrolase 2							36.0	33.0	34.0					9																	139944949		2199	4298	6497	SO:0001819	synonymous_variant	954					integral to membrane	ATP binding	g.chr9:139944949G>A	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.816C>T	9.37:g.139944949G>A			OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652	ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Silent_p.T272T	p.T272T	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	6	872	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	272			Extracellular (Potential).		O15464|Q5SPY6|Q5SPY7	Silent	SNP	ENST00000355097.2	37	c.816C>T	CCDS7026.1																																																																																				0.647	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		8	30	0	0	0	0	8	30				
ANAPC2	29882	broad.mit.edu	37	9	140078134	140078134	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140078134G>A	ENST00000323927.2	-	5	1162	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	386					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 axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTGGATGCAGGAGCCGAGTCT	0.657																																						uc004clr.1		NA																	0				ovary(1)	1						c.(1156-1158)CTC>CTT		anaphase-promoting complex subunit 2							49.0	44.0	46.0					9																	140078134		2201	4299	6500	SO:0001819	synonymous_variant	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140078134G>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1158C>T	9.37:g.140078134G>A						ANAPC2_uc004clq.1_Silent_p.L242L	p.L386L	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	5	1231	-	all_cancers(76;0.0926)		386					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	c.1158C>T	CCDS7033.1																																																																																				0.657	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		3	19	0	0	0	0	3	19				
FAM166A	401565	broad.mit.edu	37	9	140139886	140139886	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140139886G>A	ENST00000344774.4	-	3	449	c.395C>T	c.(394-396)cCc>cTc	p.P132L	FAM166A_ENST00000388932.2_Missense_Mutation_p.P132L	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	132						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CGGGGTGTCGGGCGTGAAGCC	0.642																																						uc004cmi.1		NA																	0				ovary(1)	1						c.(394-396)CCC>CTC		hypothetical protein LOC401565							81.0	95.0	90.0					9																	140139886		2203	4300	6503	SO:0001583	missense	401565							g.chr9:140139886G>A	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.395C>T	9.37:g.140139886G>A	ENSP00000344729:p.Pro132Leu						p.P132L	NM_001001710	NP_001001710	Q6J272	F166A_HUMAN			3	450	-			132					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.395C>T	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384155	0.61845	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.23	5.23	0.72850	.	0.070349	0.64402	D	0.000016	T	0.76666	0.4019	M	0.67953	2.075	0.51233	D	0.999919	D	0.76494	0.999	D	0.71414	0.973	T	0.78435	-0.2205	9	0.59425	D	0.04	-20.2953	15.4991	0.75680	0.0:0.0:1.0:0.0	.	132	Q6J272	F166A_HUMAN	L	132;132;159	.	ENSP00000344729:P132L	P	-	2	0	FAM166A	139259707	1.000000	0.71417	0.985000	0.45067	0.036000	0.12997	4.675000	0.61619	2.431000	0.82371	0.561000	0.74099	CCC		0.642	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		18	118	0	0	0	0	18	118				
NOXA1	10811	broad.mit.edu	37	9	140323432	140323432	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140323432C>T	ENST00000341349.2	+	4	648	c.468C>T	c.(466-468)tcC>tcT	p.S156S	NOXA1_ENST00000392815.2_Silent_p.S156S	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	156	Mediates interaction with RAC1.				positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CGGAGGGGTCCCTGAATGGCC	0.622																																						uc004cmv.2		NA																	0					0						c.(466-468)TCC>TCT		NADPH oxidase activator 1							25.0	28.0	27.0					9																	140323432		2194	4297	6491	SO:0001819	synonymous_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140323432C>T	AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"""serologically defined colon cancer antigen 31"""	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.468C>T	9.37:g.140323432C>T						C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Silent_p.S156S|NOXA1_uc010nch.2_Silent_p.S156S	p.S156S	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	4	603	+	all_cancers(76;0.0926)		156			Mediates interaction with RAC1.		O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Silent	SNP	ENST00000341349.2	37	c.468C>T	CCDS7042.1																																																																																				0.622	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1			3	11	0	0	0	0	3	11				
PNPLA7	375775	broad.mit.edu	37	9	140358627	140358627	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140358627G>A	ENST00000277531.4	-	27	3288	c.3102C>T	c.(3100-3102)ttC>ttT	p.F1034F	PNPLA7_ENST00000406427.1_Silent_p.F1059F|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.F640F	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1034	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGTGATGGCGAAATAAGGAA	0.672																																						uc004cnf.2		NA																	0				skin(1)	1						c.(3100-3102)TTC>TTT		patatin-like phospholipase domain containing 7							93.0	85.0	88.0					9																	140358627		2203	4300	6503	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140358627G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3102C>T	9.37:g.140358627G>A						C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Silent_p.F300F|PNPLA7_uc004cne.1_Silent_p.F300F|PNPLA7_uc011mfa.1_Silent_p.F442F|PNPLA7_uc010ncj.1_Silent_p.F1059F	p.F1034F	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	27	3439	-	all_cancers(76;0.126)		1034			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.3102C>T	CCDS7045.1																																																																																				0.672	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		7	35	0	0	0	0	7	35				
PNPLA7	375775	broad.mit.edu	37	9	140389515	140389515	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140389515G>A	ENST00000277531.4	-	18	2208	c.2022C>T	c.(2020-2022)gcC>gcT	p.A674A	PNPLA7_ENST00000406427.1_Silent_p.A699A|PNPLA7_ENST00000371457.1_Silent_p.A280A	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	674					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGACGTGAGGGCTCCTGCCG	0.647																																						uc004cnf.2		NA																	0				skin(1)	1						c.(2020-2022)GCC>GCT		patatin-like phospholipase domain containing 7							98.0	87.0	91.0					9																	140389515		2203	4298	6501	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140389515G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2022C>T	9.37:g.140389515G>A						C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Silent_p.A699A	p.A674A	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	18	2359	-	all_cancers(76;0.126)		674			cNMP 3.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.2022C>T	CCDS7045.1																																																																																				0.647	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		13	75	0	0	0	0	13	75				
EHMT1	79813	broad.mit.edu	37	9	140611609	140611609	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140611609C>T	ENST00000460843.1	+	3	644	c.617C>T	c.(616-618)aCc>aTc	p.T206I	EHMT1_ENST00000462484.1_Missense_Mutation_p.T206I|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.T175I	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	206					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCACGCAAGACCATGCCGAAG	0.572																																						uc011mfc.1		NA																	0				breast(2)|pancreas(1)	3						c.(616-618)ACC>ATC		euchromatic histone-lysine N-methyltransferase 1							25.0	29.0	27.0					9																	140611609		2152	4175	6327	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140611609C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.617C>T	9.37:g.140611609C>T	ENSP00000417980:p.Thr206Ile					EHMT1_uc004coa.2_Missense_Mutation_p.T206I|EHMT1_uc004cob.1_Missense_Mutation_p.T175I	p.T206I	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	3	654	+	all_cancers(76;0.164)		206					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.617C>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	c	28.4	4.915300	0.92178	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.77620	0.88;0.13;-1.11	5.82	5.82	0.92795	.	0.058966	0.64402	D	0.000003	D	0.88001	0.6320	M	0.67953	2.075	0.53688	D	0.999976	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	D	0.88085	0.2809	10	0.87932	D	0	.	20.188	0.98224	0.0:1.0:0.0:0.0	.	206;175;206	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	I	175;175;206;206	ENSP00000334476:T175I;ENSP00000417328:T206I;ENSP00000417980:T206I	ENSP00000334476:T175I	T	+	2	0	EHMT1	139731430	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.232000	0.65332	2.770000	0.95276	0.639000	0.83563	ACC		0.572	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		13	57	0	0	0	0	13	57				
ASMT	438	broad.mit.edu	37	X	1742148	1742148	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:1742148C>T	ENST00000381229.4	+	2	222	c.186C>T	c.(184-186)ctC>ctT	p.L62L	ASMT_ENST00000381233.3_Silent_p.L62L|ASMT_ENST00000381241.3_Silent_p.L62L			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	62					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GGACAGAGCTCCTGCTGGACA	0.617																																						uc004cqd.2		NA																	0				skin(1)	1						c.(184-186)CTC>CTT		acetylserotonin O-methyltransferase							101.0	96.0	98.0					X																	1742148		2203	4296	6499	SO:0001819	synonymous_variant	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1742148C>T	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.186C>T	X.37:g.1742148C>T						ASMT_uc010ncy.2_Silent_p.L62L|ASMT_uc004cqe.2_Silent_p.L62L	p.L62L	NM_004043	NP_004034	P46597	HIOM_HUMAN			3	331	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	62					B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	ENST00000381229.4	37	c.186C>T																																																																																					0.617	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		7	85	0	0	0	0	7	85				
ASMT	438	broad.mit.edu	37	X	1743190	1743190	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:1743190C>T	ENST00000381229.4	+	3	309	c.273C>T	c.(271-273)agC>agT	p.S91S	ASMT_ENST00000381233.3_Silent_p.S91S|ASMT_ENST00000381241.3_Silent_p.S91S			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	91					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	AGCTGTCCAGCGACTACCTGA	0.572																																						uc004cqd.2		NA																	0				skin(1)	1						c.(271-273)AGC>AGT		acetylserotonin O-methyltransferase			,,	1,4405		0,1,2202	169.0	157.0	161.0		273,273,273	0.8	0.0	X		161	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMT	NM_001171038.1,NM_001171039.1,NM_004043.2	,,	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	,,	91/374,91/299,91/374	1743190	2,12996	2203	4296	6499	SO:0001819	synonymous_variant	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1743190C>T	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.273C>T	X.37:g.1743190C>T						ASMT_uc010ncy.2_Silent_p.S91S|ASMT_uc004cqe.2_Silent_p.S91S	p.S91S	NM_004043	NP_004034	P46597	HIOM_HUMAN			4	418	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	91					B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	ENST00000381229.4	37	c.273C>T																																																																																					0.572	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		31	369	0	0	0	0	31	369				
MXRA5	25878	broad.mit.edu	37	X	3239247	3239247	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:3239247G>A	ENST00000217939.6	-	5	4633	c.4479C>T	c.(4477-4479)tcC>tcT	p.S1493S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1493						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATGGGGACGAGGATGCTGGCT	0.483																																						uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(4477-4479)TCC>TCT		adlican precursor							129.0	110.0	117.0					X																	3239247		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3239247G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4479C>T	X.37:g.3239247G>A							p.S1493S	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	4636	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1493					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.4479C>T	CCDS14124.1																																																																																				0.483	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		24	40	0	0	0	0	24	40				
CLCN4	1183	broad.mit.edu	37	X	10163010	10163010	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:10163010G>T	ENST00000380833.4	+	5	695	c.304G>T	c.(304-306)Gtc>Ttc	p.V102F	CLCN4_ENST00000380829.1_Missense_Mutation_p.V102F|CLCN4_ENST00000421085.2_Missense_Mutation_p.V8F	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	102					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAAGGAGGGGGTCTGCCTGTC	0.552																																					Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(304-306)GTC>TTC		chloride channel 4							178.0	137.0	151.0					X																	10163010		2203	4300	6503	SO:0001583	missense	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10163010G>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.304G>T	X.37:g.10163010G>T	ENSP00000370213:p.Val102Phe					CLCN4_uc011mid.1_Missense_Mutation_p.V8F	p.V102F	NM_001830	NP_001821	P51793	CLCN4_HUMAN			5	734	+			102			Helical; (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.304G>T	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476511	0.26511	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085;ENST00000454850	D;D;D;D	0.92965	-3.14;-3.14;-2.43;-3.14	5.03	2.14	0.27477	Chloride channel, core (2);	0.174987	0.49916	D	0.000123	D	0.85579	0.5729	L	0.34521	1.04	0.58432	D	0.999999	B	0.06786	0.001	B	0.15484	0.013	T	0.76024	-0.3110	10	0.54805	T	0.06	-30.9704	8.2074	0.31463	0.3392:0.0:0.6608:0.0	.	102	P51793	CLCN4_HUMAN	F	102;102;8;102	ENSP00000370213:V102F;ENSP00000370209:V102F;ENSP00000405754:V8F;ENSP00000403064:V102F	ENSP00000370209:V102F	V	+	1	0	CLCN4	10123010	1.000000	0.71417	0.019000	0.16419	0.292000	0.27327	4.745000	0.62125	0.023000	0.15187	-0.374000	0.07098	GTC		0.552	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			66	29	1	0	6.87e-38	7.15e-38	66	29				
ARHGAP6	395	broad.mit.edu	37	X	11682604	11682604	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:11682604G>A	ENST00000337414.4	-	1	1217	c.345C>T	c.(343-345)tcC>tcT	p.S115S	ARHGAP6_ENST00000380732.3_Silent_p.S115S|ARHGAP6_ENST00000380718.1_Silent_p.S115S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	115					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAAAGCTGCCGGATGGTGACT	0.657																																						uc004cup.1		NA																	0				urinary_tract(1)|lung(1)	2						c.(343-345)TCC>TCT		Rho GTPase activating protein 6 isoform 1							20.0	23.0	22.0					X																	11682604		2200	4299	6499	SO:0001819	synonymous_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11682604G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.345C>T	X.37:g.11682604G>A						ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.S115S	p.S115S	NM_013427	NP_038286	O43182	RHG06_HUMAN			1	1218	-			115					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.345C>T	CCDS14140.1																																																																																				0.657	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		13	5	0	0	0	0	13	5				
KLHL34	257240	broad.mit.edu	37	X	21675148	21675148	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:21675148G>A	ENST00000379499.2	-	1	1300	c.759C>T	c.(757-759)atC>atT	p.I253I		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	253						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGGGCCTGGATGATGAGGC	0.692																																						uc004czz.1		NA																	0				ovary(1)	1						c.(757-759)ATC>ATT		kelch-like 34							18.0	20.0	19.0					X																	21675148		2199	4295	6494	SO:0001819	synonymous_variant	257240							g.chrX:21675148G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.759C>T	X.37:g.21675148G>A							p.I253I	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	1301	-			253						Silent	SNP	ENST00000379499.2	37	c.759C>T	CCDS14199.1																																																																																				0.692	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		8	6	0	0	0	0	8	6				
CXorf58	254158	broad.mit.edu	37	X	23933835	23933835	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:23933835G>A	ENST00000379211.3	+	4	784	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	79										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TGTAACACATGAAATACTGAA	0.378																																						uc004daz.1		NA																	0					0						c.(235-237)GAA>AAA		hypothetical protein LOC254158							68.0	58.0	61.0					X																	23933835		2203	4299	6502	SO:0001583	missense	254158							g.chrX:23933835G>A	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.235G>A	X.37:g.23933835G>A	ENSP00000368511:p.Glu79Lys					CXorf58_uc011mju.1_Missense_Mutation_p.E79K	p.E79K	NM_152761	NP_689974	Q96LI9	CX058_HUMAN			4	579	+			79						Missense_Mutation	SNP	ENST00000379211.3	37	c.235G>A	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	g	14.46	2.543119	0.45280	.	.	ENSG00000165182	ENST00000379211	T	0.28454	1.61	5.85	4.99	0.66335	.	0.312499	0.27113	N	0.020861	T	0.52273	0.1724	M	0.70275	2.135	0.21697	N	0.999586	D;D	0.71674	0.993;0.998	D;D	0.66351	0.91;0.943	T	0.50171	-0.8859	10	0.62326	D	0.03	-14.2276	13.212	0.59830	0.0:0.1555:0.8445:0.0	.	79;79	B7ZLS7;Q96LI9	.;CX058_HUMAN	K	79	ENSP00000368511:E79K	ENSP00000368511:E79K	E	+	1	0	CXorf58	23843756	1.000000	0.71417	0.739000	0.30968	0.342000	0.28953	2.692000	0.47018	1.209000	0.43321	0.540000	0.68198	GAA		0.378	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		11	14	0	0	0	0	11	14				
IL1RAPL1	11141	broad.mit.edu	37	X	29301114	29301114	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:29301114C>T	ENST00000378993.1	+	3	815	c.142C>T	c.(142-144)Cct>Tct	p.P48S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.P48S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	48	Ig-like C2-type 1.				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						GGTGGGAGAGCCTGTTCGAAT	0.398																																						uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(142-144)CCT>TCT		interleukin 1 receptor accessory protein-like 1							136.0	120.0	126.0					X																	29301114		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:29301114C>T	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.142C>T	X.37:g.29301114C>T	ENSP00000368278:p.Pro48Ser						p.P48S	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			3	650	+			48			Ig-like C2-type 1.|Extracellular (Potential).		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.142C>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480893	0.84747	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.75704	-0.96;-0.96	5.51	5.51	0.81932	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87900	0.6294	M	0.86268	2.805	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.89536	0.3789	10	0.72032	D	0.01	.	17.5815	0.87970	0.0:1.0:0.0:0.0	.	48	Q9NZN1	IRPL1_HUMAN	S	48	ENSP00000368278:P48S;ENSP00000305200:P48S	ENSP00000305200:P48S	P	+	1	0	IL1RAPL1	29211035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.693000	0.68264	2.454000	0.82982	0.600000	0.82982	CCT		0.398	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		22	18	0	0	0	0	22	18				
DMD	1756	broad.mit.edu	37	X	32305752	32305752	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:32305752C>A	ENST00000357033.4	-	43	6390	c.6184G>T	c.(6184-6186)Gca>Tca	p.A2062S	DMD_ENST00000378677.2_Missense_Mutation_p.A2058S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2062					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTGCAATGCTGCTGTCTTC	0.368																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6	GRCh37	CI942051	DMD	I		c.(6184-6186)GCA>TCA		dystrophin Dp427m isoform							131.0	105.0	114.0					X																	32305752		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32305752C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6184G>T	X.37:g.32305752C>A	ENSP00000354923:p.Ala2062Ser					DMD_uc004dcw.2_Missense_Mutation_p.A718S|DMD_uc004dcx.2_Missense_Mutation_p.A721S|DMD_uc004dcz.2_Missense_Mutation_p.A1939S|DMD_uc004dcy.1_Missense_Mutation_p.A2058S|DMD_uc004ddb.1_Missense_Mutation_p.A2054S|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA	p.A2062S	NM_004006	NP_003997	P11532	DMD_HUMAN			43	6428	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2062			Spectrin 14.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6184G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529206	0.27387	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.35048	1.33;1.33	4.36	3.46	0.39613	.	0.000000	0.36778	U	0.002408	T	0.36963	0.0986	L	0.53249	1.67	0.80722	D	1	B;B;B;B;B	0.33777	0.005;0.425;0.006;0.224;0.393	B;B;B;B;B	0.36959	0.005;0.233;0.009;0.237;0.171	T	0.32161	-0.9917	10	0.66056	D	0.02	.	12.8715	0.57968	0.1639:0.8361:0.0:0.0	.	2054;2062;2058;721;718	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	S	2054;721;718;2058;2062;2062;1939	ENSP00000367948:A2058S;ENSP00000354923:A2062S	ENSP00000354923:A2062S	A	-	1	0	DMD	32215673	1.000000	0.71417	0.350000	0.25708	0.176000	0.22953	3.750000	0.55157	0.903000	0.36546	0.600000	0.82982	GCA		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		10	27	1	0	1.09e-07	1.11e-07	10	27				
FAM47A	158724	broad.mit.edu	37	X	34148023	34148023	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:34148023A>G	ENST00000346193.3	-	1	2424	c.2373T>C	c.(2371-2373)gaT>gaC	p.D791D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	791										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AAACTGCCTAATCTTCTTCCG	0.383																																						uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2371-2373)GAT>GAC		hypothetical protein LOC158724							61.0	60.0	60.0					X																	34148023		2201	4299	6500	SO:0001819	synonymous_variant	158724							g.chrX:34148023A>G	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2373T>C	X.37:g.34148023A>G							p.D791D	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	2406	-			791					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.2373T>C	CCDS43926.1																																																																																				0.383	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		17	7	0	0	0	0	17	7				
FAM47B	170062	broad.mit.edu	37	X	34961441	34961441	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:34961441C>T	ENST00000329357.5	+	1	529	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	165										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CGCTTGGGCTCGTTGTGAGGC	0.597																																						uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(493-495)CGT>TGT		hypothetical protein LOC170062							43.0	40.0	41.0					X																	34961441		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961441C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.493C>T	X.37:g.34961441C>T	ENSP00000328307:p.Arg165Cys						p.R165C	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	511	+			165					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.493C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	2.662	-0.279540	0.05642	.	.	ENSG00000189132	ENST00000329357	T	0.18502	2.21	0.745	-1.49	0.08718	.	.	.	.	.	T	0.06416	0.0165	N	0.04090	-0.28	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35201	-0.9798	9	0.36615	T	0.2	.	4.4122	0.11438	0.0:0.5437:0.0:0.4563	.	165	Q8NA70	FA47B_HUMAN	C	165	ENSP00000328307:R165C	ENSP00000328307:R165C	R	+	1	0	FAM47B	34871362	0.007000	0.16637	0.012000	0.15200	0.004000	0.04260	-0.703000	0.05063	-0.315000	0.08703	-0.783000	0.03347	CGT		0.597	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		17	24	0	0	0	0	17	24				
MAGEB16	139604	broad.mit.edu	37	X	35821010	35821010	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:35821010G>A	ENST00000399989.1	+	2	976	c.697G>A	c.(697-699)Gga>Aga	p.G233R	MAGEB16_ENST00000399985.1_Missense_Mutation_p.G233R|MAGEB16_ENST00000399987.1_Missense_Mutation_p.G233R|MAGEB16_ENST00000399988.1_Missense_Mutation_p.G233R|MAGEB16_ENST00000399992.1_Missense_Mutation_p.G265R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	233	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAATTTGACGGGAGTATATTC	0.498																																						uc010ngt.1		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(697-699)GGA>AGA		melanoma antigen family B, 16							64.0	61.0	62.0					X																	35821010		2170	4282	6452	SO:0001583	missense	139604							g.chrX:35821010G>A		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.697G>A	X.37:g.35821010G>A	ENSP00000382871:p.Gly233Arg						p.G233R	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			2	976	+			233			MAGE.		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.697G>A	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	8.524	0.869362	0.17322	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09	3.13	0.335	0.15953	.	0.192055	0.46758	D	0.000275	T	0.11965	0.0291	M	0.64170	1.965	0.09310	N	1	D	0.59767	0.986	P	0.52627	0.704	T	0.12041	-1.0563	10	0.44086	T	0.13	.	3.1728	0.06558	0.2775:0.2237:0.4989:0.0	.	233	A2A368	MAGBG_HUMAN	R	233;265;233;233;233	ENSP00000382870:G233R;ENSP00000382874:G265R;ENSP00000382869:G233R;ENSP00000382871:G233R;ENSP00000382867:G233R	ENSP00000382867:G233R	G	+	1	0	MAGEB16	35730931	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.516000	0.22817	-0.034000	0.13713	-1.433000	0.01084	GGA		0.498	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			13	12	0	0	0	0	13	12				
USP9X	8239	broad.mit.edu	37	X	41077795	41077795	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:41077795C>T	ENST00000324545.8	+	37	7013	c.6380C>T	c.(6379-6381)tCc>tTc	p.S2127F	USP9X_ENST00000378308.2_Missense_Mutation_p.S2127F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2127					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCACATTTTTCCTTGCAAGAT	0.413																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(6379-6381)TCC>TTC		ubiquitin specific protease 9, X-linked isoform							232.0	195.0	208.0					X																	41077795		2203	4300	6503	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41077795C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6380C>T	X.37:g.41077795C>T	ENSP00000316357:p.Ser2127Phe					USP9X_uc004dfc.2_Missense_Mutation_p.S2127F	p.S2127F	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			37	7013	+			2127					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.6380C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.748956	0.89753	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03330	3.97;3.97	5.8	5.8	0.92144	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.944	T	0.16808	-1.0390	10	0.13853	T	0.58	.	19.0276	0.92939	0.0:1.0:0.0:0.0	.	2127;2127	Q93008-1;Q93008	.;USP9X_HUMAN	F	2127	ENSP00000367558:S2127F;ENSP00000316357:S2127F	ENSP00000316357:S2127F	S	+	2	0	USP9X	40962739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.442000	0.82660	0.513000	0.50165	TCC		0.413	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		26	78	0	0	0	0	26	78				
USP9X	8239	broad.mit.edu	37	X	41082519	41082519	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:41082519T>A	ENST00000324545.8	+	39	7248	c.6615T>A	c.(6613-6615)ttT>ttA	p.F2205L	USP9X_ENST00000378308.2_Missense_Mutation_p.F2205L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2205					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTGCTACTTTTATGCTTGTGT	0.418																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(6613-6615)TTT>TTA		ubiquitin specific protease 9, X-linked isoform							157.0	141.0	147.0					X																	41082519		2199	4300	6499	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41082519T>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6615T>A	X.37:g.41082519T>A	ENSP00000316357:p.Phe2205Leu					USP9X_uc004dfc.2_Missense_Mutation_p.F2205L	p.F2205L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			39	7248	+			2205					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.6615T>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801519	0.70682	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.29397	1.57;1.57	5.55	1.88	0.25563	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	M	0.68317	2.08	0.53688	D	0.999977	D;D	0.89917	1.0;0.966	D;P	0.91635	0.999;0.83	T	0.52668	-0.8545	10	0.05833	T	0.94	.	8.9975	0.36061	0.0:0.4196:0.0:0.5804	.	2205;2205	Q93008-1;Q93008	.;USP9X_HUMAN	L	2205	ENSP00000367558:F2205L;ENSP00000316357:F2205L	ENSP00000316357:F2205L	F	+	3	2	USP9X	40967463	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.972000	0.40540	-0.016000	0.14127	0.481000	0.45027	TTT		0.418	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		33	14	0	0	0	0	33	14				
GPR34	2857	broad.mit.edu	37	X	41555478	41555478	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:41555478G>A	ENST00000378142.4	+	3	876	c.592G>A	c.(592-594)Ggg>Agg	p.G198R	GPR34_ENST00000378138.5_Missense_Mutation_p.G198R|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	198					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TAAGAAAGGAGGGCATAATTC	0.343																																						uc004dfp.3		NA																	0				ovary(1)	1						c.(592-594)GGG>AGG		G protein-coupled receptor 34							60.0	53.0	56.0					X																	41555478		2203	4298	6501	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555478G>A	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.592G>A	X.37:g.41555478G>A	ENSP00000367384:p.Gly198Arg					CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.G198R|GPR34_uc010nhg.2_Missense_Mutation_p.G198R|GPR34_uc004dfr.3_Missense_Mutation_p.G198R	p.G198R	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN			3	876	+			198			Extracellular (Potential).		O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.592G>A	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	8.993	0.978274	0.18812	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.37058	1.22;1.22	5.96	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	1.013520	0.07858	N	0.965867	T	0.28928	0.0718	N	0.25380	0.74	0.09310	N	1	B	0.28470	0.213	B	0.36335	0.222	T	0.41161	-0.9524	10	0.15952	T	0.53	0.0186	6.4397	0.21843	0.0719:0.1278:0.665:0.1352	.	198	Q9UPC5	GPR34_HUMAN	R	198;198;151	ENSP00000367384:G198R;ENSP00000367378:G198R	ENSP00000367378:G198R	G	+	1	0	GPR34	41440422	0.032000	0.19561	0.027000	0.17364	0.846000	0.48090	1.893000	0.39758	1.252000	0.44001	0.594000	0.82650	GGG		0.343	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		14	31	0	0	0	0	14	31				
CFP	5199	broad.mit.edu	37	X	47486606	47486606	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:47486606G>A	ENST00000396992.3	-	5	820	c.700C>T	c.(700-702)Cct>Tct	p.P234S	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Missense_Mutation_p.P234S|CFP_ENST00000377005.2_Missense_Mutation_p.P234S	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	234	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGCTTCCCAGGAGGTTTCTGG	0.662																																						uc004dig.3		NA																	0				breast(2)|lung(1)	3						c.(700-702)CCT>TCT		complement factor properdin precursor							42.0	48.0	46.0					X																	47486606		2203	4300	6503	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47486606G>A	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.700C>T	X.37:g.47486606G>A	ENSP00000380189:p.Pro234Ser					CFP_uc004dih.2_Missense_Mutation_p.P234S|CFP_uc004dii.1_Missense_Mutation_p.P170S|CFP_uc010nhu.2_Missense_Mutation_p.P234S	p.P234S	NM_001145252	NP_001138724	P27918	PROP_HUMAN			5	826	-			234			TSP type-1 3.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.700C>T	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018073	0.54576	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.09	5.09	0.68999	.	0.120352	0.56097	D	0.000026	T	0.67915	0.2944	L	0.55103	1.725	0.53688	D	0.999978	D;D	0.76494	0.997;0.999	D;D	0.97110	0.98;1.0	T	0.62695	-0.6800	10	0.13853	T	0.58	.	13.1572	0.59524	0.0:0.0:1.0:0.0	.	170;234	B3KVK6;P27918	.;PROP_HUMAN	S	234;234;234;99	ENSP00000380189:P234S;ENSP00000247153:P234S;ENSP00000366204:P234S;ENSP00000418258:P99S	ENSP00000247153:P234S	P	-	1	0	CFP	47371550	1.000000	0.71417	0.871000	0.34182	0.338000	0.28826	3.812000	0.55628	2.256000	0.74724	0.596000	0.82720	CCT		0.662	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		8	7	0	0	0	0	8	7				
SLC38A5	92745	broad.mit.edu	37	X	48318232	48318232	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:48318232G>A	ENST00000376876.3	-	14	1942	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Missense_Mutation_p.P316S|SLC38A5_ENST00000317669.5_Missense_Mutation_p.P367S			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	367					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GCCTTGCCTGGGAAAAGCAGC	0.577																																						uc010nid.2		NA																	0				ovary(3)	3						c.(1099-1101)CCA>TCA		solute carrier family 38, member 5							51.0	41.0	44.0					X																	48318232		2203	4300	6503	SO:0001583	missense	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48318232G>A	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1099C>T	X.37:g.48318232G>A	ENSP00000366073:p.Pro367Ser					SLC38A5_uc004djk.3_Missense_Mutation_p.P316S	p.P367S	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN			15	1277	-			367			Cytoplasmic (Potential).		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	c.1099C>T	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	g	19.45	3.829925	0.71258	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02216	4.39;4.39;4.39	5.31	4.43	0.53597	.	0.052903	0.85682	D	0.000000	T	0.04363	0.0120	M	0.63208	1.945	0.53688	D	0.999977	P	0.36974	0.576	B	0.40782	0.34	T	0.51624	-0.8682	10	0.25106	T	0.35	.	12.0437	0.53466	0.0:0.0:0.8264:0.1736	.	367	Q8WUX1	S38A5_HUMAN	S	367;316;367	ENSP00000366073:P367S;ENSP00000366071:P316S;ENSP00000313740:P367S	ENSP00000313740:P367S	P	-	1	0	SLC38A5	48203176	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.297000	0.65704	0.991000	0.38814	0.529000	0.55759	CCA		0.577	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		21	10	0	0	0	0	21	10				
DGKK	139189	broad.mit.edu	37	X	50147114	50147114	+	RNA	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:50147114C>T	ENST00000376025.2	-	0	1070							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGTGCTGGGTCCGGTGGCTGT	0.438																																						uc010njr.1		NA																	0				ovary(1)|kidney(1)	2						c.(1009-1011)CGG>CGA		diacylglycerol kinase kappa							79.0	75.0	76.0					X																	50147114		1981	4158	6139			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50147114C>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50147114C>T							p.R337R	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			5	1071	-	Ovarian(276;0.236)		337			Phorbol-ester/DAG-type 1.		B2RP91	Silent	SNP	ENST00000376025.2	37	c.1011G>A																																																																																					0.438	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		15	5	0	0	0	0	15	5				
MAGED1	9500	broad.mit.edu	37	X	51643373	51643373	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:51643373T>G	ENST00000375722.1	+	11	2192	c.1940T>G	c.(1939-1941)gTg>gGg	p.V647G	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.V647G|MAGED1_ENST00000375695.2_Missense_Mutation_p.V703G|MAGED1_ENST00000375772.3_Missense_Mutation_p.V647G			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	647	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AAGATGAAAGTGCTGAGATTC	0.512										Multiple Myeloma(10;0.10)																												uc004dpm.2		NA																	0				ovary(3)	3						c.(1939-1941)GTG>GGG		melanoma antigen family D, 1 isoform b							82.0	64.0	70.0					X																	51643373		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51643373T>G	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1940T>G	X.37:g.51643373T>G	ENSP00000364874:p.Val647Gly	Multiple Myeloma(10;0.10)				MAGED1_uc004dpn.2_Missense_Mutation_p.V703G|MAGED1_uc004dpo.2_Missense_Mutation_p.V647G	p.V647G	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN			11	2035	+	Ovarian(276;0.236)		647			MAGE.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1940T>G	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492366	0.44352	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	4.3	4.3	0.51218	.	0.000000	0.42420	D	0.000703	T	0.38374	0.1038	M	0.91196	3.185	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.994;0.995	T	0.44651	-0.9314	10	0.87932	D	0	.	10.81	0.46540	0.0:0.0:0.0:1.0	.	703;647	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	G	647;647;647;703	ENSP00000364927:V647G;ENSP00000364874:V647G;ENSP00000325333:V647G;ENSP00000364847:V703G	ENSP00000325333:V647G	V	+	2	0	MAGED1	51660113	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.831000	0.62752	1.916000	0.55485	0.430000	0.28490	GTG		0.512	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		7	19	0	0	0	0	7	19				
HUWE1	10075	broad.mit.edu	37	X	53588762	53588762	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:53588762C>T	ENST00000342160.3	-	54	7919	c.7462G>A	c.(7462-7464)Gag>Aag	p.E2488K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2488K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2488	Asp-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATCATCCTCCCGGTCAAAG	0.458																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(7462-7464)GAG>AAG		HECT, UBA and WWE domain containing 1							129.0	97.0	108.0					X																	53588762		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53588762C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7462G>A	X.37:g.53588762C>T	ENSP00000340648:p.Glu2488Lys					HUWE1_uc004dsn.2_Missense_Mutation_p.E1312K	p.E2488K	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			55	7864	-			2488			Asp-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.7462G>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.10|15.10	2.733497|2.733497	0.48939|0.48939	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.39406|.	1.08;1.08|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.297076|.	0.31566|.	N|.	0.007426|.	T|T	0.49440|0.49440	0.1557|0.1557	N|N	0.14661|0.14661	0.345|0.345	0.49483|0.49483	D|D	0.999795|0.999795	B;B|.	0.29301|.	0.155;0.241|.	B;B|.	0.20767|.	0.023;0.031|.	T|T	0.46428|0.46428	-0.9192|-0.9192	10|5	0.56958|.	D|.	0.05|.	.|.	16.8602|16.8602	0.86016|0.86016	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2488;2488|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	K|E	2488|1521	ENSP00000340648:E2488K;ENSP00000262854:E2488K|.	ENSP00000262854:E2488K|.	E|G	-|-	1|2	0|0	HUWE1|HUWE1	53605487|53605487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.127000|7.127000	0.77210|0.77210	2.242000|2.242000	0.73789|0.73789	0.506000|0.506000	0.49869|0.49869	GAG|GGA		0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		38	13	0	0	0	0	38	13				
MAGED2	10916	broad.mit.edu	37	X	54837732	54837732	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:54837732C>T	ENST00000375068.1	+	5	1129	c.896C>T	c.(895-897)cCc>cTc	p.P299L	MAGED2_ENST00000218439.4_Missense_Mutation_p.P299L|MAGED2_ENST00000375060.1_Missense_Mutation_p.P214L|MAGED2_ENST00000375062.4_Missense_Mutation_p.P214L|MAGED2_ENST00000375053.2_Missense_Mutation_p.P299L|MAGED2_ENST00000396224.1_Missense_Mutation_p.P299L|MAGED2_ENST00000375058.1_Missense_Mutation_p.P299L|MAGED2_ENST00000347546.4_Missense_Mutation_p.P281L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	299	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ACGAAGATTCCCATCAAGCGC	0.478																																						uc004dtk.1		NA																	0				ovary(2)|breast(1)	3						c.(895-897)CCC>CTC		melanoma antigen family D, 2							112.0	101.0	105.0					X																	54837732		2203	4300	6503	SO:0001583	missense	10916							g.chrX:54837732C>T	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.896C>T	X.37:g.54837732C>T	ENSP00000364209:p.Pro299Leu					MAGED2_uc004dtl.1_Missense_Mutation_p.P299L|MAGED2_uc004dtm.1_Missense_Mutation_p.P214L|MAGED2_uc010nkc.1_Missense_Mutation_p.P299L|MAGED2_uc004dtn.1_Missense_Mutation_p.P299L|MAGED2_uc004dto.1_Missense_Mutation_p.P273L	p.P299L	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN			5	990	+			299			MAGE.		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	c.896C>T	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395586	0.62177	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31	3.88	3.88	0.44766	.	0.000000	0.40385	N	0.001101	T	0.19485	0.0468	M	0.64260	1.97	0.58432	D	0.999997	P;D;P	0.89917	0.733;1.0;0.873	P;D;P	0.97110	0.765;1.0;0.849	T	0.00377	-1.1778	10	0.48119	T	0.1	.	11.0737	0.48019	0.0:1.0:0.0:0.0	.	281;214;299	Q9UNF1-2;Q5H907;Q9UNF1	.;.;MAGD2_HUMAN	L	299;299;243;281;214;299;299;214;299	ENSP00000364209:P299L;ENSP00000364193:P299L;ENSP00000336962:P243L;ENSP00000340290:P281L;ENSP00000364202:P214L;ENSP00000218439:P299L;ENSP00000364198:P299L;ENSP00000364200:P214L;ENSP00000379526:P299L	ENSP00000218439:P299L	P	+	2	0	MAGED2	54854457	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	4.224000	0.58593	1.884000	0.54569	0.513000	0.50165	CCC		0.478	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		16	37	0	0	0	0	16	37				
FOXR2	139628	broad.mit.edu	37	X	55650779	55650779	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:55650779G>A	ENST00000339140.3	+	1	947	c.635G>A	c.(634-636)gGc>gAc	p.G212D		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	212					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCCACTGTGGCCTCAGTGTG	0.493																																						uc004duo.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(634-636)GGC>GAC		forkhead box R2							89.0	84.0	85.0					X																	55650779		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650779G>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.635G>A	X.37:g.55650779G>A	ENSP00000427329:p.Gly212Asp						p.G212D	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			1	947	+			212			Fork-head.			Missense_Mutation	SNP	ENST00000339140.3	37	c.635G>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344567	0.24339	.	.	ENSG00000189299	ENST00000339140	D	0.95554	-3.74	3.26	1.39	0.22231	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.189254	0.45606	D	0.000354	D	0.94052	0.8094	L	0.45581	1.43	0.35234	D	0.777183	D	0.59357	0.985	P	0.59357	0.856	D	0.91155	0.4956	10	0.20046	T	0.44	.	5.68	0.17769	0.1256:0.1981:0.6764:0.0	.	212	Q6PJQ5	FOXR2_HUMAN	D	212	ENSP00000427329:G212D	ENSP00000427329:G212D	G	+	2	0	FOXR2	55667504	1.000000	0.71417	0.014000	0.15608	0.505000	0.33919	4.367000	0.59498	0.236000	0.21180	0.600000	0.82982	GGC		0.493	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		36	60	0	0	0	0	36	60				
UPRT	139596	broad.mit.edu	37	X	74519598	74519598	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:74519598C>T	ENST00000373383.4	+	5	758	c.591C>T	c.(589-591)gaC>gaT	p.D197D	UPRT_ENST00000373379.1_Silent_p.D197D|UPRT_ENST00000530743.1_Silent_p.D61D	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	197					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GTTTACGAGACTGCTGTCGAT	0.408																																						uc004ecb.1		NA																	0					0						c.(589-591)GAC>GAT		uracil phosphoribosyltransferase (FUR1) homolog							90.0	77.0	82.0					X																	74519598		2203	4300	6503	SO:0001819	synonymous_variant	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74519598C>T	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.591C>T	X.37:g.74519598C>T						UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Silent_p.D197D|UPRT_uc004ece.1_Silent_p.D61D	p.D197D	NM_145052	NP_659489	Q96BW1	UPP_HUMAN			5	720	+			197					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Silent	SNP	ENST00000373383.4	37	c.591C>T	CCDS14429.1																																																																																				0.408	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		46	12	0	0	0	0	46	12				
ATRX	546	broad.mit.edu	37	X	76890177	76890177	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:76890177C>T	ENST00000373344.5	-	17	4931	c.4717G>A	c.(4717-4719)Gat>Aat	p.D1573N	ATRX_ENST00000395603.3_Missense_Mutation_p.D1535N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1573					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAGCAGCAATCCCACATAAAC	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(4717-4719)GAT>AAT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						145.0	142.0	143.0					X																	76890177		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76890177C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4717G>A	X.37:g.76890177C>T	ENSP00000362441:p.Asp1573Asn					ATRX_uc004ecq.3_Missense_Mutation_p.D1535N|ATRX_uc004eco.3_Missense_Mutation_p.D1358N	p.D1573N	NM_000489	NP_000480	P46100	ATRX_HUMAN			17	4949	-			1573					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4717G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212831	0.79352	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.22336	1.96;1.96	5.77	5.77	0.91146	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	L	0.49571	1.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.18871	-1.0323	10	0.54805	T	0.06	-11.468	18.913	0.92493	0.0:1.0:0.0:0.0	.	1535;1573	P46100-4;P46100	.;ATRX_HUMAN	N	1573;1535	ENSP00000362441:D1573N;ENSP00000378967:D1535N	ENSP00000362441:D1573N	D	-	1	0	ATRX	76776833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.414000	0.81942	0.600000	0.82982	GAT		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		207	55	0	0	0	0	207	55				
KLHL4	56062	broad.mit.edu	37	X	86773151	86773151	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:86773151G>A	ENST00000373119.4	+	1	400	c.255G>A	c.(253-255)caG>caA	p.Q85Q	KLHL4_ENST00000373114.4_Silent_p.Q85Q	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	85						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q85H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTGCCCATCAGAGAGCCGTTC	0.453																																						uc004efb.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(253-255)CAG>CAA		kelch-like 4 isoform 1							57.0	54.0	55.0					X																	86773151		2203	4300	6503	SO:0001819	synonymous_variant	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86773151G>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.255G>A	X.37:g.86773151G>A						KLHL4_uc004efa.2_Silent_p.Q85Q	p.Q85Q	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			1	437	+			85					B2RTW2|Q9Y3J5	Silent	SNP	ENST00000373119.4	37	c.255G>A	CCDS14457.1																																																																																				0.453	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			8	46	0	0	0	0	8	46				
KLHL4	56062	broad.mit.edu	37	X	86873069	86873069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:86873069C>T	ENST00000373119.4	+	4	1007	c.862C>T	c.(862-864)Cga>Tga	p.R288*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.R288*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	288						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTTAGGGATTCGATCATTTGG	0.418																																						uc004efb.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(862-864)CGA>TGA		kelch-like 4 isoform 1							98.0	81.0	87.0					X																	86873069		2203	4300	6503	SO:0001587	stop_gained	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86873069C>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.862C>T	X.37:g.86873069C>T	ENSP00000362211:p.Arg288*					KLHL4_uc004efa.2_Nonsense_Mutation_p.R288*	p.R288*	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			4	1044	+			288					B2RTW2|Q9Y3J5	Nonsense_Mutation	SNP	ENST00000373119.4	37	c.862C>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	37	6.593658	0.97688	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	4.74	4.74	0.60224	.	0.218725	0.39909	N	0.001239	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9642	0.79952	0.0:1.0:0.0:0.0	.	.	.	.	X	288	.	ENSP00000362206:R288X	R	+	1	2	KLHL4	86759725	1.000000	0.71417	0.152000	0.22495	0.920000	0.55202	7.243000	0.78219	1.960000	0.56953	0.502000	0.49764	CGA		0.418	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			10	42	0	0	0	0	10	42				
TGIF2LX	90316	broad.mit.edu	37	X	89177627	89177627	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:89177627G>T	ENST00000561129.2	+	1	673	c.543G>T	c.(541-543)caG>caT	p.Q181H	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.Q181H			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCCCTAGCCAGAAGCTCACCG	0.562																																						uc004efe.2		NA																	0				ovary(1)|skin(1)	2						c.(541-543)CAG>CAT		TGFB-induced factor homeobox 2-like, X-linked							52.0	58.0	56.0					X																	89177627		2203	4300	6503	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177627G>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.543G>T	X.37:g.89177627G>T	ENSP00000453704:p.Gln181His						p.Q181H	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	592	+			181					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.543G>T	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385822	0.25031	.	.	ENSG00000153779	ENST00000283891	T	0.64991	-0.13	2.53	1.66	0.24008	.	.	.	.	.	T	0.60340	0.2261	M	0.72894	2.215	0.09310	N	1	P	0.50617	0.937	P	0.46026	0.501	T	0.52779	-0.8530	8	.	.	.	-27.7005	4.7647	0.13127	0.1844:0.0:0.8156:0.0	.	181	Q8IUE1	TF2LX_HUMAN	H	181	ENSP00000355119:Q181H	.	Q	+	3	2	TGIF2LX	89064283	0.001000	0.12720	0.004000	0.12327	0.027000	0.11550	-0.086000	0.11233	0.502000	0.28037	0.506000	0.49869	CAG		0.562	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		5	42	1	0	5.18e-06	5.27e-06	5	42				
PCDH11X	27328	broad.mit.edu	37	X	91132697	91132697	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:91132697G>A	ENST00000373094.1	+	2	2303	c.1458G>A	c.(1456-1458)acG>acA	p.T486T	PCDH11X_ENST00000361655.2_Silent_p.T486T|PCDH11X_ENST00000504220.2_Silent_p.T486T|PCDH11X_ENST00000395337.2_Silent_p.T486T|PCDH11X_ENST00000361724.1_Silent_p.T486T|PCDH11X_ENST00000298274.8_Silent_p.T486T|PCDH11X_ENST00000373088.1_Silent_p.T486T|PCDH11X_ENST00000373097.1_Silent_p.T486T|PCDH11X_ENST00000406881.1_Silent_p.T486T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	486	Cadherin 5. {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						TCCAGTTGACGAAAGTAAGTG	0.443													G|||	1	0.000264901	0.0	0.0	3775	,	,		15237	0.0		0.001	False		,,,				2504	0.0				NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(1456-1458)ACG>ACA		protocadherin 11 X-linked isoform c							98.0	81.0	87.0					X																	91132697		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132697G>A	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.1458G>A	X.37:g.91132697G>A						PCDH11X_uc004efl.1_Silent_p.T486T|PCDH11X_uc004efo.1_Silent_p.T486T|PCDH11X_uc010nmv.1_Silent_p.T486T|PCDH11X_uc004efm.1_Silent_p.T486T|PCDH11X_uc004efn.1_Silent_p.T486T|PCDH11X_uc004efh.1_Silent_p.T486T|PCDH11X_uc004efj.1_Silent_p.T486T	p.T486T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2303	+			486			Cadherin 5.|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.1458G>A	CCDS14461.1																																																																																				0.443	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		70	22	0	0	0	0	70	22				
PCDH11X	27328	broad.mit.edu	37	X	91642907	91642908	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:91642907_91642908GG>AA	ENST00000373094.1	+	5	4163_4164	c.3318_3319GG>AA	c.(3316-3321)ggGGat>ggAAat	p.D1107N	PCDH11X_ENST00000361655.2_Missense_Mutation_p.D1097N|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D1070N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D1070N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D1097N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D1107N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1107					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						GCACTGAAGGGGATGGCAACTC	0.485																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(3316-3321)GGGGAT>GGAAAT		protocadherin 11 X-linked isoform c																																				SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91642907_91642908GG>AA	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	Exception_encountered	X.37:g.91642907_91642908delinsAA	ENSP00000362186:p.Asp1107Asn					PCDH11X_uc004efl.1_Missense_Mutation_p.D1097N|PCDH11X_uc004efo.1_Missense_Mutation_p.D1070N|PCDH11X_uc010nmv.1_Intron|PCDH11X_uc004efm.1_Missense_Mutation_p.D1107N|PCDH11X_uc004efn.1_Missense_Mutation_p.D1097N	p.D1107N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			5	4163_4164	+			1107			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	DNP	ENST00000373094.1	37	c.3318_3319GG>AA	CCDS14461.1																																																																																				0.485	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		33	10	0	0	0	0	33	10				
DIAPH2	1730	broad.mit.edu	37	X	96369956	96369956	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:96369956C>T	ENST00000324765.8	+	21	2928	c.2581C>T	c.(2581-2583)Ctt>Ttt	p.L861F	DIAPH2_ENST00000373049.4_Missense_Mutation_p.L861F|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L861F|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L861F|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L857F			O60879	DIAP2_HUMAN	diaphanous-related formin 2	861	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GATCAACTTCCTTTGTAAGGT	0.333																																						uc004efu.3		NA																	0				ovary(3)|lung(1)	4						c.(2581-2583)CTT>TTT		diaphanous 2 isoform 156							57.0	58.0	58.0					X																	96369956		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96369956C>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2581C>T	X.37:g.96369956C>T	ENSP00000321348:p.Leu861Phe					DIAPH2_uc004eft.3_Missense_Mutation_p.L861F	p.L861F	NM_006729	NP_006720	O60879	DIAP2_HUMAN			21	2977	+			861			FH2.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.2581C>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198225	0.79015	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	5.81	4.95	0.65309	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000007	T	0.80088	0.4559	H	0.95224	3.64	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.85786	0.1364	10	0.87932	D	0	.	13.9935	0.64380	0.0:0.9259:0.0:0.0741	.	861;861	O60879;O60879-2	DIAP2_HUMAN;.	F	861;857;861;861;861;868	ENSP00000362152:L861F;ENSP00000362145:L857F;ENSP00000348082:L861F;ENSP00000362140:L861F;ENSP00000321348:L861F	ENSP00000321348:L861F	L	+	1	0	DIAPH2	96256612	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.699000	0.84547	1.212000	0.43366	0.600000	0.82982	CTT		0.333	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		17	24	0	0	0	0	17	24				
SRPX2	27286	broad.mit.edu	37	X	99920267	99920267	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:99920267C>T	ENST00000373004.3	+	6	988	c.560C>T	c.(559-561)cCc>cTc	p.P187L		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	187	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ATCCGCTGTCCCCACTCACGT	0.527																																						uc004egb.2		NA																	0				ovary(2)	2						c.(559-561)CCC>CTC		sushi-repeat-containing protein, X-linked 2							79.0	67.0	71.0					X																	99920267		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99920267C>T	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.560C>T	X.37:g.99920267C>T	ENSP00000362095:p.Pro187Leu						p.P187L	NM_014467	NP_055282	O60687	SRPX2_HUMAN			6	1040	+			187			HYR.		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.560C>T	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787711	0.90367	.	.	ENSG00000102359	ENST00000373004	T	0.29917	1.55	5.61	5.61	0.85477	Hyalin (2);	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77595	-0.2529	9	.	.	.	-13.7942	18.6939	0.91593	0.0:1.0:0.0:0.0	.	187	O60687	SRPX2_HUMAN	L	187	ENSP00000362095:P187L	.	P	+	2	0	SRPX2	99806923	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.083000	0.76859	2.359000	0.80004	0.529000	0.55759	CCC		0.527	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		6	15	0	0	0	0	6	15				
GPRASP1	9737	broad.mit.edu	37	X	101910958	101910958	+	Missense_Mutation	SNP	C	C	T	rs372366556		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:101910958C>T	ENST00000361600.5	+	5	2918	c.2117C>T	c.(2116-2118)tCg>tTg	p.S706L	GPRASP1_ENST00000444152.1_Missense_Mutation_p.S706L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S706L|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S706L	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	706	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S706L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATTGTCAATTCGTGGTTCTGG	0.473																																						uc004ejj.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|lung(1)	2						c.(2116-2118)TCG>TTG		G protein-coupled receptor associated sorting			LEU/SER,LEU/SER,LEU/SER,,LEU/SER	0,3835		0,0,1632,571	111.0	102.0	105.0		2117,2117,2117,,2117	1.8	0.1	X		105	1,6727		0,1,2427,1872	no	missense,missense,missense,intron,missense	GPRASP1,ARMCX5-GPRASP2	NM_001099410.1,NM_001099411.1,NM_001184727.1,NM_001199818.1,NM_014710.4	145,145,145,,145	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,,probably-damaging	706/1396,706/1396,706/1396,,706/1396	101910958	1,10562	2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101910958C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2117C>T	X.37:g.101910958C>T	ENSP00000355146:p.Ser706Leu					GPRASP1_uc004eji.3_Missense_Mutation_p.S706L|GPRASP1_uc010nod.2_Missense_Mutation_p.S706L	p.S706L	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	2918	+			706			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.2117C>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748677	0.30955	0.0	1.49E-4	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	2.71	1.83	0.25207	.	.	.	.	.	T	0.10723	0.0262	L	0.50333	1.59	0.09310	N	1	B	0.29552	0.248	B	0.19391	0.025	T	0.30909	-0.9962	9	0.66056	D	0.02	0.0247	2.7671	0.05323	0.28:0.5571:0.0:0.1629	.	706	Q5JY77	GASP1_HUMAN	L	706	ENSP00000393691:S706L;ENSP00000409420:S706L;ENSP00000355146:S706L;ENSP00000445683:S706L	ENSP00000355146:S706L	S	+	2	0	GPRASP1	101797614	0.012000	0.17670	0.092000	0.20876	0.325000	0.28411	0.051000	0.14141	0.574000	0.29417	0.519000	0.50382	TCG		0.473	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		49	91	0	0	0	0	49	91				
TSC22D3	1831	broad.mit.edu	37	X	106957810	106957811	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:106957810_106957811GG>AA	ENST00000372397.2	-	3	666_667	c.343_344CC>TT	c.(343-345)CCt>TTt	p.P115F	TSC22D3_ENST00000372390.4_Missense_Mutation_p.P58F|TSC22D3_ENST00000514426.1_Missense_Mutation_p.P113F|TSC22D3_ENST00000315660.4_Missense_Mutation_p.P181F|TSC22D3_ENST00000372382.4_Missense_Mutation_p.P91F|TSC22D3_ENST00000372384.2_Missense_Mutation_p.P181F|TSC22D3_ENST00000372383.4_Missense_Mutation_p.P181F|TSC22D3_ENST00000506081.1_Missense_Mutation_p.P181F	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	115					body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)|lung(3)	6						TGGCTCTTCAGGGCTCAGACAG	0.594																																						uc004eng.2		NA																	0					0						c.(343-345)CCT>TTT		TSC22 domain family, member 3 isoform 2																																				SO:0001583	missense	1831						sequence-specific DNA binding transcription factor activity	g.chrX:106957810_106957811GG>AA	Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"""glucocorticoid-induced leucine zipper"""	300506	"""delta sleep inducing peptide, immunoreactor"""	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.343_344delinsAA	X.37:g.106957810_106957811delinsAA	ENSP00000361474:p.Pro115Phe					TSC22D3_uc004enf.2_Missense_Mutation_p.P58F|TSC22D3_uc004enh.2_Missense_Mutation_p.P181F|TSC22D3_uc004eni.2_Missense_Mutation_p.P181F|TSC22D3_uc004enj.2_Missense_Mutation_p.P181F	p.P115F	NM_004089	NP_004080	Q99576	T22D3_HUMAN			3	593_594	-			115					Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Missense_Mutation	DNP	ENST00000372397.2	37	c.343_344CC>TT	CCDS14531.1																																																																																				0.594	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057843.2	NM_198057		101	20	0	0	0	0	101	20				
AMOT	154796	broad.mit.edu	37	X	112021852	112021852	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:112021852A>G	ENST00000524145.1	-	12	3272	c.3198T>C	c.(3196-3198)acT>acC	p.T1066T	AMOT_ENST00000304758.1_Silent_p.T657T|AMOT_ENST00000371959.3_Silent_p.T1066T|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_Silent_p.T834T			Q4VCS5	AMOT_HUMAN	angiomotin	1066					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCTGAATGGGAGTTTTTCTTT	0.403																																						uc004epr.2		NA																	0				ovary(1)	1						c.(3196-3198)ACT>ACC		angiomotin isoform 1							216.0	199.0	204.0					X																	112021852		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112021852A>G	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.3198T>C	X.37:g.112021852A>G						AMOT_uc004eps.2_Silent_p.T657T	p.T1066T	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			11	3198	-			1066					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.3198T>C	CCDS48154.1																																																																																				0.403	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		70	241	0	0	0	0	70	241				
ZCCHC12	170261	broad.mit.edu	37	X	117960306	117960306	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:117960306G>A	ENST00000310164.2	+	4	1606	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	367					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GAGTGACAAGGCCCAGGTTTT	0.498																																						uc004equ.2		NA																	0				ovary(1)	1						c.(1099-1101)GCC>ACC		zinc finger, CCHC domain containing 12							96.0	82.0	87.0					X																	117960306		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960306G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.1099G>A	X.37:g.117960306G>A	ENSP00000308921:p.Ala367Thr						p.A367T	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	1572	+			367					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.1099G>A	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	9.223	1.033959	0.19590	.	.	ENSG00000174460	ENST00000310164	T	0.41400	1.0	3.3	3.3	0.37823	.	1.202580	0.06483	N	0.733241	T	0.38268	0.1034	L	0.48174	1.505	0.09310	N	1	P	0.36909	0.573	B	0.36666	0.23	T	0.24799	-1.0150	10	0.35671	T	0.21	-0.8103	9.1783	0.37125	0.0:0.0:1.0:0.0	.	367	Q6PEW1	ZCH12_HUMAN	T	367	ENSP00000308921:A367T	ENSP00000308921:A367T	A	+	1	0	ZCCHC12	117844334	0.000000	0.05858	0.487000	0.27428	0.181000	0.23173	-0.262000	0.08682	1.901000	0.55032	0.600000	0.82982	GCC		0.498	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		17	75	0	0	0	0	17	75				
ATP1B4	23439	broad.mit.edu	37	X	119513343	119513343	+	Missense_Mutation	SNP	C	C	T	rs200756053		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:119513343C>T	ENST00000218008.3	+	8	985	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	ATP1B4_ENST00000539306.1_Missense_Mutation_p.P267S|ATP1B4_ENST00000361319.3_Missense_Mutation_p.P306S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	310					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.P306T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CTACACATCCCCCTTGGTGGC	0.473																																						uc004esr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(928-930)CCC>TCC		ATPase, (Na+)/K+ transporting, beta 4							154.0	135.0	141.0					X																	119513343		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119513343C>T	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.928C>T	X.37:g.119513343C>T	ENSP00000218008:p.Pro310Ser					ATP1B4_uc004esq.2_Missense_Mutation_p.P306S|ATP1B4_uc011mtx.1_Missense_Mutation_p.P275S|ATP1B4_uc011mty.1_Missense_Mutation_p.P267S	p.P310S	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN			8	1012	+			310			Perinuclear space (Potential).		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.928C>T	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724799	0.68959	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.59772	0.24;0.24;0.24	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.82756	0.5106	M	0.93978	3.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.87344	0.2333	10	0.87932	D	0	-5.7361	17.6744	0.88226	0.0:1.0:0.0:0.0	.	267;275;310;306	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	S	310;306;267	ENSP00000218008:P310S;ENSP00000355346:P306S;ENSP00000443334:P267S	ENSP00000218008:P310S	P	+	1	0	ATP1B4	119397371	1.000000	0.71417	0.916000	0.36221	0.593000	0.36681	7.000000	0.76290	2.391000	0.81399	0.600000	0.82982	CCC		0.473	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		67	139	0	0	0	0	67	139				
GLUD2	2747	broad.mit.edu	37	X	120181905	120181905	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:120181905C>T	ENST00000328078.1	+	1	444	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	123					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CTTCCCCATCCGGCGCGACGA	0.642																																						uc004eto.2		NA																	0				pancreas(1)	1						c.(367-369)CGG>TGG		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						61.0	47.0	52.0					X																	120181905		2202	4277	6479	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181905C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.367C>T	X.37:g.120181905C>T	ENSP00000327589:p.Arg123Trp						p.R123W	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	444	+			123					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.367C>T	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668784	0.29604	.	.	ENSG00000182890	ENST00000328078	D	0.96802	-4.13	1.8	-0.0813	0.13703	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.135107	0.47852	N	0.000209	D	0.95316	0.8480	M	0.94142	3.5	0.41091	D	0.985596	B	0.29909	0.261	B	0.27262	0.078	D	0.89603	0.3836	10	0.87932	D	0	-17.0885	2.0112	0.03488	0.2602:0.3771:0.0:0.3627	.	123	P49448	DHE4_HUMAN	W	123	ENSP00000327589:R123W	ENSP00000327589:R123W	R	+	1	2	GLUD2	120009586	1.000000	0.71417	0.001000	0.08648	0.027000	0.11550	4.093000	0.57714	-0.099000	0.12263	0.472000	0.43445	CGG		0.642	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		26	28	0	0	0	0	26	28				
TENM1	10178	broad.mit.edu	37	X	123554341	123554341	+	Missense_Mutation	SNP	C	C	T	rs370554090		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:123554341C>T	ENST00000371130.3	-	24	4844	c.4781G>A	c.(4780-4782)gGc>gAc	p.G1594D	TENM1_ENST00000422452.2_Missense_Mutation_p.G1601D|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1594					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CGGCATTCCGCCTGCATCACG	0.493																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(4780-4782)GGC>GAC		odz, odd Oz/ten-m homolog 1 isoform 3			ASP/GLY,ASP/GLY,ASP/GLY	1,3834		0,1,1631,571	89.0	65.0	73.0		4802,4799,4781	5.3	0.9	X		73	0,6728		0,0,2428,1872	no	missense,missense,missense	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	94,94,94	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign,benign,benign	1601/2733,1600/2732,1594/2726	123554341	1,10562	2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123554341C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4781G>A	X.37:g.123554341C>T	ENSP00000360171:p.Gly1594Asp					ODZ1_uc011muj.1_Missense_Mutation_p.G1600D|ODZ1_uc010nqy.2_Missense_Mutation_p.G1601D	p.G1594D	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			24	4845	-			1594			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4781G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	c	11.98	1.801679	0.31869	2.61E-4	0.0	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.84730	-1.89;-1.86	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.329918	0.33813	N	0.004525	T	0.79470	0.4451	L	0.33485	1.01	0.18873	N	0.999986	B;B;B	0.24258	0.1;0.047;0.054	B;B;B	0.21708	0.036;0.024;0.034	T	0.64563	-0.6378	10	0.24483	T	0.36	.	18.1433	0.89647	0.0:1.0:0.0:0.0	.	1600;1601;1594	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	D	1594;1601	ENSP00000360171:G1594D;ENSP00000403954:G1601D	ENSP00000360171:G1594D	G	-	2	0	ODZ1	123382022	0.895000	0.30542	0.904000	0.35570	0.549000	0.35272	3.666000	0.54540	2.221000	0.72209	0.509000	0.49947	GGC		0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		9	39	0	0	0	0	9	39				
ACTRT1	139741	broad.mit.edu	37	X	127185831	127185831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:127185831G>A	ENST00000371124.3	-	1	551	c.355C>T	c.(355-357)Cga>Tga	p.R119*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	119						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGCTTTTCTCGAATTTCCCTA	0.493																																						uc004eum.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(355-357)CGA>TGA		actin-related protein T1							230.0	219.0	222.0					X																	127185831		2203	4300	6503	SO:0001587	stop_gained	139741					cytoplasm|cytoskeleton		g.chrX:127185831G>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.355C>T	X.37:g.127185831G>A	ENSP00000360165:p.Arg119*						p.R119*	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			1	552	-			119					Q6X7C1|Q96L10	Nonsense_Mutation	SNP	ENST00000371124.3	37	c.355C>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434129	0.43224	.	.	ENSG00000123165	ENST00000371124	.	.	.	3.76	-1.72	0.08107	.	0.118284	0.36066	N	0.002818	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.9993	0.36072	0.0:0.1325:0.1935:0.674	.	.	.	.	X	119	.	ENSP00000360165:R119X	R	-	1	2	ACTRT1	127013512	0.995000	0.38212	0.003000	0.11579	0.034000	0.12701	0.291000	0.18994	-0.560000	0.06102	0.544000	0.68410	CGA		0.493	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		251	72	0	0	0	0	251	72				
SASH3	54440	broad.mit.edu	37	X	128926347	128926347	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:128926347G>A	ENST00000356892.3	+	5	600	c.486G>A	c.(484-486)ggG>ggA	p.G162G	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	162					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GCAGCTTCGGGGAGGAACCAC	0.627																																						uc011mun.1		NA																	0				ovary(2)|pancreas(1)	3						c.(484-486)GGG>GGA		SAM and SH3 domain containing 3							91.0	86.0	88.0					X																	128926347		2203	4300	6503	SO:0001819	synonymous_variant	54440							g.chrX:128926347G>A	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.486G>A	X.37:g.128926347G>A						SASH3_uc004euu.2_Silent_p.G162G|SASH3_uc011muo.1_Silent_p.G79G	p.G162G	NM_018990	NP_061863	O75995	SASH3_HUMAN			5	668	+			162					A6NCH1|A8K7K8|Q5JZ38	Silent	SNP	ENST00000356892.3	37	c.486G>A	CCDS14614.1																																																																																				0.627	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		29	102	0	0	0	0	29	102				
GPR119	139760	broad.mit.edu	37	X	129519167	129519167	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:129519167G>A	ENST00000276218.2	-	1	344	c.255C>T	c.(253-255)gtC>gtT	p.V85V		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	85					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CGGAGGAAGTGACAAATGCCA	0.567																																						uc011muv.1		NA																	0				ovary(2)	2						c.(253-255)GTC>GTT		G protein-coupled receptor 119							116.0	109.0	111.0					X																	129519167		2203	4300	6503	SO:0001819	synonymous_variant	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519167G>A	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.255C>T	X.37:g.129519167G>A							p.V85V	NM_178471	NP_848566	Q8TDV5	GP119_HUMAN			1	255	-			85			Helical; Name=3; (Potential).		Q495H7|Q4VBN3	Silent	SNP	ENST00000276218.2	37	c.255C>T	CCDS14625.1																																																																																				0.567	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		25	147	0	0	0	0	25	147				
ARHGAP36	158763	broad.mit.edu	37	X	130217753	130217753	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:130217753T>G	ENST00000276211.5	+	4	710	c.365T>G	c.(364-366)gTg>gGg	p.V122G	ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.V110G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	122					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAGGTCCTGGTGAACGAGTTT	0.552																																						uc004evz.2		NA																	0				ovary(3)	3						c.(364-366)GTG>GGG		hypothetical protein LOC158763 precursor							128.0	122.0	124.0					X																	130217753		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217753T>G		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.365T>G	X.37:g.130217753T>G	ENSP00000276211:p.Val122Gly					ARHGAP36_uc004ewa.2_Missense_Mutation_p.V110G|ARHGAP36_uc004ewb.2_Missense_Mutation_p.V91G|ARHGAP36_uc004ewc.2_5'UTR	p.V122G	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			4	710	+			122					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.365T>G	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502909	0.26949	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.12255	2.7;2.71;2.74	4.3	3.13	0.36017	Rho GTPase-activating protein domain (1);	0.327728	0.22202	N	0.063236	T	0.17109	0.0411	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.981;0.999;0.967	D;D;D	0.80764	0.978;0.994;0.95	T	0.10086	-1.0645	10	0.30078	T	0.28	.	5.7427	0.18102	0.0:0.1207:0.0:0.8793	.	91;110;122	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	G	122;110;74;91	ENSP00000276211:V122G;ENSP00000359960:V110G;ENSP00000408515:V91G	ENSP00000276211:V122G	V	+	2	0	ARHGAP36	130045434	1.000000	0.71417	0.987000	0.45799	0.003000	0.03518	3.028000	0.49705	0.768000	0.33290	-0.360000	0.07572	GTG		0.552	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		115	75	0	0	0	0	115	75				
IGSF1	3547	broad.mit.edu	37	X	130411004	130411004	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:130411004C>T	ENST00000361420.3	-	14	2596	c.2517G>A	c.(2515-2517)gtG>gtA	p.V839V	IGSF1_ENST00000370903.3_Silent_p.V844V|IGSF1_ENST00000370904.1_Silent_p.V830V|IGSF1_ENST00000370910.1_Silent_p.V830V|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	839	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACCAATGCCCACCGAAATGA	0.502																																						uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(2515-2517)GTG>GTA		immunoglobulin superfamily, member 1 isoform 1							179.0	184.0	182.0					X																	130411004		2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130411004C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2517G>A	X.37:g.130411004C>T						IGSF1_uc004ewe.3_Silent_p.V833V|IGSF1_uc004ewf.2_Silent_p.V819V	p.V839V	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			14	2755	-			839			Extracellular (Potential).|Ig-like C2-type 8.		B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.2517G>A	CCDS14629.1																																																																																				0.502	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			71	284	0	0	0	0	71	284				
IGSF1	3547	broad.mit.edu	37	X	130413126	130413126	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:130413126C>T	ENST00000361420.3	-	11	1820	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	IGSF1_ENST00000370903.3_Missense_Mutation_p.E586K|IGSF1_ENST00000370904.1_Missense_Mutation_p.E572K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E572K|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	581					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCAGTCTCTTCTATCAATACC	0.582																																						uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1741-1743)GAA>AAA		immunoglobulin superfamily, member 1 isoform 1							142.0	139.0	140.0					X																	130413126		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130413126C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1741G>A	X.37:g.130413126C>T	ENSP00000355010:p.Glu581Lys					IGSF1_uc004ewe.3_Missense_Mutation_p.E575K|IGSF1_uc004ewf.2_Missense_Mutation_p.E561K	p.E581K	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			11	1979	-			581			Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1741G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	6.388	0.439674	0.12104	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00832	5.95;5.96;5.95;5.64	5.04	3.25	0.37280	.	0.809444	0.10686	N	0.645833	T	0.00815	0.0027	N	0.22421	0.69	0.33519	D	0.592116	B;B;B	0.31153	0.125;0.095;0.31	B;B;B	0.28553	0.058;0.038;0.091	T	0.47497	-0.9113	10	0.29301	T	0.29	.	5.9994	0.19511	0.0:0.7702:0.0:0.2298	.	572;25;581	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	K	572;581;572;586	ENSP00000359947:E572K;ENSP00000355010:E581K;ENSP00000359941:E572K;ENSP00000359940:E586K	ENSP00000355010:E581K	E	-	1	0	IGSF1	130240807	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.751000	0.26348	1.190000	0.43042	0.594000	0.82650	GAA		0.582	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			81	103	0	0	0	0	81	103				
SPANXN2	494119	broad.mit.edu	37	X	142795189	142795189	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:142795189C>T	ENST00000370498.1	-	2	1242	c.489G>A	c.(487-489)gaG>gaA	p.E163E		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	163										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTTCGTCCTCCTGTGAAG	0.502																																						uc004fbz.2		NA																	0				ovary(1)	1						c.(487-489)GAG>GAA		SPANX-N2 protein							319.0	289.0	299.0					X																	142795189		2203	4300	6503	SO:0001819	synonymous_variant	494119							g.chrX:142795189C>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.489G>A	X.37:g.142795189C>T							p.E163E	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1243	-	Acute lymphoblastic leukemia(192;6.56e-05)		163					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.489G>A	CCDS35419.1																																																																																				0.502	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		82	428	0	0	0	0	82	428				
GABRQ	55879	broad.mit.edu	37	X	151821298	151821298	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:151821298C>T	ENST00000370306.2	+	9	1473	c.1453C>T	c.(1453-1455)Cgt>Tgt	p.R485C		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	485					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|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)	AATCCGCAACCGTGTCGAAGC	0.557																																						uc004ffp.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1453-1455)CGT>TGT		gamma-aminobutyric acid (GABA) receptor, theta							124.0	107.0	113.0					X																	151821298		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821298C>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1453C>T	X.37:g.151821298C>T	ENSP00000359329:p.Arg485Cys						p.R485C	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			9	1473	+	Acute lymphoblastic leukemia(192;6.56e-05)		485					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1453C>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365220	0.24684	.	.	ENSG00000147402	ENST00000370306	D	0.81579	-1.51	4.47	2.7	0.31948	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.049260	0.01989	N	0.045362	T	0.70334	0.3212	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.56631	-0.7947	10	0.49607	T	0.09	.	6.0641	0.19854	0.0:0.7651:0.0:0.2349	.	485	Q9UN88	GBRT_HUMAN	C	485	ENSP00000359329:R485C	ENSP00000359329:R485C	R	+	1	0	GABRQ	151571954	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.251000	0.18257	0.607000	0.29982	0.600000	0.82982	CGT		0.557	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		24	162	0	0	0	0	24	162				
ATP2B3	492	broad.mit.edu	37	X	152806879	152806879	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:152806879C>T	ENST00000349466.2	+	3	597	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	ATP2B3_ENST00000263519.4_Missense_Mutation_p.P91S|ATP2B3_ENST00000370181.2_Missense_Mutation_p.P91S|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P91S|ATP2B3_ENST00000393842.1_Missense_Mutation_p.P91S|ATP2B3_ENST00000370186.1_Missense_Mutation_p.P91S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	91					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACTTCATCCCCCCAAAGCA	0.622																																						uc004fht.1		NA																	0				pancreas(1)	1						c.(271-273)CCC>TCC		plasma membrane calcium ATPase 3 isoform 3b							164.0	123.0	137.0					X																	152806879		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152806879C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.271C>T	X.37:g.152806879C>T	ENSP00000343886:p.Pro91Ser					ATP2B3_uc004fhs.1_Missense_Mutation_p.P91S	p.P91S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			2	397	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		91			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.271C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502695	0.85176	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.69	5.69	0.88448	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89294	0.6674	M	0.91663	3.23	0.58432	D	0.999999	D;D	0.55385	0.971;0.964	P;P	0.58620	0.842;0.755	D	0.91397	0.5140	10	0.66056	D	0.02	-34.2176	17.4064	0.87474	0.0:1.0:0.0:0.0	.	91;91	Q16720;Q16720-2	AT2B3_HUMAN;.	S	91	ENSP00000359205:P91S;ENSP00000343886:P91S;ENSP00000377425:P91S;ENSP00000352062:P91S;ENSP00000263519:P91S;ENSP00000359200:P91S	ENSP00000263519:P91S	P	+	1	0	ATP2B3	152460073	1.000000	0.71417	0.989000	0.46669	0.588000	0.36517	7.772000	0.85439	2.379000	0.81126	0.600000	0.82982	CCC		0.622	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		14	30	0	0	0	0	14	30				
ATP2B3	492	broad.mit.edu	37	X	152807134	152807134	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:152807134G>T	ENST00000349466.2	+	4	740	c.414G>T	c.(412-414)ggG>ggT	p.G138G	ATP2B3_ENST00000263519.4_Silent_p.G138G|ATP2B3_ENST00000370181.2_Silent_p.G138G|ATP2B3_ENST00000359149.3_Silent_p.G138G|ATP2B3_ENST00000393842.1_Silent_p.G138G|ATP2B3_ENST00000370186.1_Silent_p.G138G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	138					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCTGTGGGAATGTGTCGG	0.617																																						uc004fht.1		NA																	0				pancreas(1)	1						c.(412-414)GGG>GGT		plasma membrane calcium ATPase 3 isoform 3b							73.0	60.0	65.0					X																	152807134		2203	4299	6502	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152807134G>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.414G>T	X.37:g.152807134G>T						ATP2B3_uc004fhs.1_Silent_p.G138G	p.G138G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			3	540	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		138			Extracellular (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.414G>T	CCDS35440.1																																																																																				0.617	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		49	19	1	0	1.83e-24	1.9e-24	49	19				
PNCK	139728	broad.mit.edu	37	X	152938472	152938472	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:152938472C>T	ENST00000370150.1	-	2	238	c.60G>A	c.(58-60)agG>agA	p.R20R	PNCK_ENST00000393831.2_Silent_p.R20R|PNCK_ENST00000340888.3_Silent_p.R20R|PNCK_ENST00000370145.4_Silent_p.R37R|PNCK_ENST00000370142.1_Silent_p.R20R|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Silent_p.R103R			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	20	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					acGAGCCGAGCCTCTCGCGGA	0.597																																						uc011myu.1		NA																	0				breast(1)	1						c.(307-309)AGG>AGA		pregnancy upregulated non-ubiquitously expressed							52.0	35.0	41.0					X																	152938472		2202	4297	6499	SO:0001819	synonymous_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152938472C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.60G>A	X.37:g.152938472C>T						PNCK_uc011myt.1_Silent_p.R37R|PNCK_uc004fia.2_Silent_p.R32R|PNCK_uc004fhz.3_5'UTR|PNCK_uc010nuh.2_Silent_p.R103R|PNCK_uc011myv.1_5'UTR|PNCK_uc011myw.1_5'UTR	p.R103R	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			2	495	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		20			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.309G>A																																																																																					0.597	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		4	13	0	0	0	0	4	13				
RENBP	5973	broad.mit.edu	37	X	153208459	153208459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153208459G>A	ENST00000393700.3	-	6	615	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	RENBP_ENST00000412763.1_Nonsense_Mutation_p.Q179*|RENBP_ENST00000369997.3_Nonsense_Mutation_p.Q165*|RENBP_ENST00000462086.1_5'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	179					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CCCTGGAGCTGGGGCCGGCCC	0.692																																						uc004fjo.1		NA																	0				ovary(1)|pancreas(1)	2						c.(535-537)CAG>TAG		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						24.0	22.0	23.0					X																	153208459		2199	4293	6492	SO:0001587	stop_gained	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153208459G>A		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.535C>T	X.37:g.153208459G>A	ENSP00000377303:p.Gln179*					RENBP_uc011mzh.1_Nonsense_Mutation_p.Q179*	p.Q179*	NM_002910	NP_002901	P51606	RENBP_HUMAN			6	705	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		179					B4DNZ3|Q96BI6	Nonsense_Mutation	SNP	ENST00000393700.3	37	c.535C>T	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158405	0.57368	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	.	.	.	3.92	1.11	0.20524	.	0.604415	0.16654	U	0.205083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-0.707	1.7139	0.02897	0.1973:0.1572:0.4821:0.1634	.	.	.	.	X	179;179;165	.	ENSP00000359014:Q165X	Q	-	1	0	RENBP	152861653	0.018000	0.18449	0.006000	0.13384	0.406000	0.30931	1.197000	0.32211	-0.081000	0.12662	0.183000	0.17082	CAG		0.692	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		10	36	0	0	0	0	10	36				
HCFC1	3054	broad.mit.edu	37	X	153225815	153225815	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153225815G>A	ENST00000310441.7	-	7	1921	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	HCFC1_ENST00000354233.3_Missense_Mutation_p.P319S|HCFC1_ENST00000369984.4_Missense_Mutation_p.P319S|HCFC1_ENST00000461098.1_5'UTR	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	319					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGCACGGGGGATGTTGTCC	0.617																																						uc004fjp.2		NA																	0				ovary(2)	2						c.(955-957)CCC>TCC		host cell factor 1							30.0	33.0	32.0					X																	153225815		2106	4182	6288	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153225815G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.955C>T	X.37:g.153225815G>A	ENSP00000309555:p.Pro319Ser						p.P319S	NM_005334	NP_005325	P51610	HCFC1_HUMAN			7	1483	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		319	P->S: Eliminates VIC formation and association with VP16. Unable to rescue proliferation in temperature-sensitive arrested cells.				Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.955C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676655	0.88445	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.64991	-0.13;-0.13;-0.13	5.09	5.09	0.68999	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.84243	0.5429	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88266	0.2926	10	0.59425	D	0.04	.	16.5198	0.84310	0.0:0.0:1.0:0.0	.	319	P51610	HCFC1_HUMAN	S	319	ENSP00000309555:P319S;ENSP00000359001:P319S;ENSP00000346174:P319S	ENSP00000309555:P319S	P	-	1	0	HCFC1	152879009	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.768000	0.55295	2.244000	0.73946	0.600000	0.82982	CCC		0.617	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		9	11	0	0	0	0	9	11				
TKTL1	8277	broad.mit.edu	37	X	153524312	153524312	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153524312C>T	ENST00000369915.3	+	1	289	c.100C>T	c.(100-102)Cat>Tat	p.H34Y	TKTL1_ENST00000217905.7_5'UTR|TEX28_ENST00000369926.1_5'Flank	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	34					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGCGAATCCATTCCATCAG	0.622																																						uc004fkg.2		NA																	0				ovary(3)|skin(1)	4						c.(100-102)CAT>TAT		transketolase-like 1 isoform a							126.0	108.0	114.0					X																	153524312		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153524312C>T	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.100C>T	X.37:g.153524312C>T	ENSP00000358931:p.His34Tyr					TEX28_uc004fke.2_5'Flank|TEX28_uc004fkf.2_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.1_Missense_Mutation_p.H34Y|TKTL1_uc011mzm.1_Missense_Mutation_p.H34Y	p.H34Y	NM_012253	NP_036385	P51854	TKTL1_HUMAN			1	286	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		34					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.100C>T	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	C	7.769	0.706955	0.15239	.	.	ENSG00000007350	ENST00000369915	T	0.28666	1.6	4.53	3.64	0.41730	Transketolase, N-terminal (1);	0.344359	0.28279	N	0.015926	T	0.40297	0.1111	M	0.75615	2.305	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.54026	0.74;0.74	T	0.49952	-0.8884	10	0.02654	T	1	-0.8091	12.1946	0.54290	0.1723:0.8277:0.0:0.0	.	34;34	B7Z7I0;P51854	.;TKTL1_HUMAN	Y	34	ENSP00000358931:H34Y	ENSP00000358931:H34Y	H	+	1	0	TKTL1	153177506	0.388000	0.25197	0.428000	0.26697	0.041000	0.13682	0.706000	0.25690	0.795000	0.33922	0.529000	0.55759	CAT		0.622	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		21	112	0	0	0	0	21	112				
TKTL1	8277	broad.mit.edu	37	X	153539193	153539193	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153539193G>A	ENST00000369915.3	+	4	546	c.357G>A	c.(355-357)cgG>cgA	p.R119R	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Silent_p.R63R	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	119					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGCTACCGGGTGTTCTGCC	0.527																																						uc004fkg.2		NA																	0				ovary(3)|skin(1)	4						c.(355-357)CGG>CGA		transketolase-like 1 isoform a							120.0	95.0	103.0					X																	153539193		2203	4300	6503	SO:0001819	synonymous_variant	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153539193G>A	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.357G>A	X.37:g.153539193G>A						TKTL1_uc011mzl.1_Silent_p.R113R|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Silent_p.R63R	p.R119R	NM_012253	NP_036385	P51854	TKTL1_HUMAN			4	543	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		119					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent	SNP	ENST00000369915.3	37	c.357G>A	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	9.231	1.035834	0.19590	.	.	ENSG00000007350	ENST00000426203	.	.	.	4.28	-2.62	0.06152	.	.	.	.	.	T	0.38241	0.1033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27839	-1.0062	4	.	.	.	-19.4344	0.9587	0.01390	0.2335:0.3422:0.191:0.2333	.	.	.	.	S	102	.	.	G	+	1	0	TKTL1	153192387	0.001000	0.12720	0.954000	0.39281	0.948000	0.59901	-1.500000	0.02283	-0.961000	0.03609	0.523000	0.50628	GGT		0.527	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		68	14	0	0	0	0	68	14				
FLNA	2316	broad.mit.edu	37	X	153589715	153589715	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153589715G>A	ENST00000369850.3	-	21	3404	c.3168C>T	c.(3166-3168)ccC>ccT	p.P1056P	FLNA_ENST00000360319.4_Silent_p.P1056P|FLNA_ENST00000422373.1_Silent_p.P1056P|FLNA_ENST00000344736.4_Silent_p.P1056P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1056					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGAGGAAAGGGGCTGCCAG	0.632																																						uc004fkk.2		NA																	0				breast(6)	6						c.(3166-3168)CCC>CCT		filamin A, alpha isoform 2							45.0	50.0	48.0					X																	153589715		2007	4134	6141	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153589715G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3168C>T	X.37:g.153589715G>A						FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.P1056P	p.P1056P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			21	3417	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1056			Filamin 8.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.3168C>T	CCDS48194.1																																																																																				0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			44	22	0	0	0	0	44	22				
FLNA	2316	broad.mit.edu	37	X	153590083	153590083	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153590083G>A	ENST00000369850.3	-	20	3135	c.2899C>T	c.(2899-2901)Cca>Tca	p.P967S	FLNA_ENST00000360319.4_Missense_Mutation_p.P967S|FLNA_ENST00000422373.1_Missense_Mutation_p.P967S|FLNA_ENST00000344736.4_Missense_Mutation_p.P967S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	967					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCAGGCTTGGAGATACTGCC	0.562																																						uc004fkk.2		NA																	0				breast(6)	6						c.(2899-2901)CCA>TCA		filamin A, alpha isoform 2							96.0	94.0	95.0					X																	153590083		1991	4142	6133	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153590083G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2899C>T	X.37:g.153590083G>A	ENSP00000358866:p.Pro967Ser					FLNA_uc010nuu.1_Missense_Mutation_p.P967S	p.P967S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			20	3148	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		967			Filamin 8.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2899C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827561	0.71143	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.41	5.41	0.78517	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.149202	0.42682	D	0.000662	D	0.93154	0.7820	M	0.79805	2.47	0.80722	D	1	B;B	0.15473	0.01;0.013	B;B	0.32980	0.122;0.156	D	0.91566	0.5268	10	0.72032	D	0.01	.	14.5066	0.67758	0.0:0.1439:0.8561:0.0	.	967;967	P21333-2;P21333	.;FLNA_HUMAN	S	967;940;967;967;967	ENSP00000353467:P967S;ENSP00000416926:P967S;ENSP00000358866:P967S;ENSP00000358863:P967S	ENSP00000358863:P967S	P	-	1	0	FLNA	153243277	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.345000	0.52182	2.258000	0.74832	0.523000	0.50628	CCA		0.562	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			13	76	0	0	0	0	13	76				
ATP6AP1	537	broad.mit.edu	37	X	153660716	153660716	+	Silent	SNP	C	C	T	rs142472086		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153660716C>T	ENST00000369762.2	+	4	529	c.468C>T	c.(466-468)ccC>ccT	p.P156P	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	156					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCCAGCCCCTTGCATGTGG	0.647																																						uc004flf.1		NA																	0				ovary(3)|breast(1)	4						c.(466-468)CCC>CCT		ATPase, H+ transporting, lysosomal accessory		C		1,3834		0,1,1631,571	45.0	38.0	40.0		468	3.1	1.0	X	dbSNP_134	40	0,6728		0,0,2428,1872	no	coding-synonymous	ATP6AP1	NM_001183.4		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		156/471	153660716	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153660716C>T	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.468C>T	X.37:g.153660716C>T						ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Silent_p.P116P	p.P156P	NM_001183	NP_001174	Q15904	VAS1_HUMAN			4	529	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		156					A6ZKI4|Q8NBT4|Q9H0C7	Silent	SNP	ENST00000369762.2	37	c.468C>T	CCDS35451.1																																																																																				0.647	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		3	27	0	0	0	0	3	27				
KDM5D	8284	broad.mit.edu	37	Y	21869120	21869120	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrY:21869120G>T	ENST00000317961.4	-	24	4183	c.3912C>A	c.(3910-3912)gcC>gcA	p.A1304A	KDM5D_ENST00000382806.2_Silent_p.A1247A|KDM5D_ENST00000541639.1_Silent_p.A1335A	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1304					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GTCTGGGTTTGGCCTGTAGCT	0.557																																						uc004fug.2		NA																	0				skin(1)	1						c.(3910-3912)GCC>GCA		jumonji, AT rich interactive domain 1D isoform	Vitamin C(DB00126)						26.0	28.0	28.0					Y																	21869120		580	1895	2475	SO:0001819	synonymous_variant	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21869120G>T	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.3912C>A	Y.37:g.21869120G>T						KDM5D_uc011naz.1_Silent_p.A1335A|KDM5D_uc010nwy.2_Silent_p.A1247A|KDM5D_uc004fuf.2_Silent_p.A479A	p.A1304A	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN			24	4200	-			1304					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Silent	SNP	ENST00000317961.4	37	c.3912C>A	CCDS14794.1																																																																																				0.557	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		3	3	1	0	6.4e-05	6.5e-05	3	3				
TMEM51	55092	broad.mit.edu	37	1	15541602	15541603	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:15541602_15541603delGC	ENST00000428417.1	+	2	465_466	c.19_20delGC	c.(19-21)gccfs	p.A7fs	TMEM51_ENST00000376014.3_Frame_Shift_Del_p.A7fs|TMEM51_ENST00000400796.3_Frame_Shift_Del_p.A7fs|TMEM51_ENST00000434578.2_Frame_Shift_Del_p.A7fs|TMEM51_ENST00000376008.2_Frame_Shift_Del_p.A7fs	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	7						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CCAGTCCAAGGCCAATGGCTCG	0.569																																						uc001avw.3		NA																	0					0						c.(19-21)GCCfs		transmembrane protein 51																																				SO:0001589	frameshift_variant	55092					integral to membrane		g.chr1:15541602_15541603delGC	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.19_20delGC	1.37:g.15541602_15541603delGC	ENSP00000394899:p.Ala7fs					TMEM51_uc010obk.1_Frame_Shift_Del_p.A7fs|TMEM51_uc001avz.2_Frame_Shift_Del_p.A7fs|TMEM51_uc001avy.2_Frame_Shift_Del_p.A7fs|TMEM51_uc001avx.2_Frame_Shift_Del_p.A7fs	p.A7fs	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)	3	538_539	+		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)	7					A8K819	Frame_Shift_Del	DEL	ENST00000428417.1	37	c.19_20delGC	CCDS154.1																																																																																				0.569	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		21	60	NA	NA	NA	NA	21	60	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0					uc010saa.1		NA																	0				skin(1)	1						c.(301-306)CTGTTTfs		olfactory receptor, family 8, subfamily D,				222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777441_123777442insT	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs						p.L101fs	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	303_304	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101_102			Helical; Name=3; (Potential).		Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	c.303_304insT	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		9	362	NA	NA	NA	NA	9	362	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99478745	99478745	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:99478745delC	ENST00000547776.2	-	16	2582	c.2583delG	c.(2581-2583)gggfs	p.G861fs	RNA5SP366_ENST00000365454.1_RNA|ANKS1B_ENST00000549025.2_Frame_Shift_Del_p.G30fs|ANKS1B_ENST00000549558.2_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000332712.7_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000546960.1_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000549493.2_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000547010.1_Frame_Shift_Del_p.G437fs|ANKS1B_ENST00000329257.7_Frame_Shift_Del_p.G861fs|ANKS1B_ENST00000546568.1_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000550693.2_Frame_Shift_Del_p.G87fs|ANKS1B_ENST00000547446.1_Frame_Shift_Del_p.G56fs	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	861	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTGTCTGTGCCCAGAATTAA	0.388																																						uc001tge.1		NA																	0					0						c.(2581-2583)GGGfs		cajalin 2 isoform a							91.0	89.0	89.0					12																	99478745		1858	4091	5949	SO:0001589	frameshift_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99478745delC	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2583delG	12.37:g.99478745delC	ENSP00000449629:p.Gly861fs					ANKS1B_uc001tgf.1_Frame_Shift_Del_p.G437fs|ANKS1B_uc001tgk.2_Frame_Shift_Del_p.G158fs|ANKS1B_uc001tgd.1_Frame_Shift_Del_p.G87fs|ANKS1B_uc001tgi.2_Frame_Shift_Del_p.G87fs|ANKS1B_uc009ztr.2_Frame_Shift_Del_p.G87fs|ANKS1B_uc001tgj.2_Frame_Shift_Del_p.G87fs|ANKS1B_uc001tgg.3_Frame_Shift_Del_p.G30fs|ANKS1B_uc010svg.1_Frame_Shift_Del_p.G56fs|ANKS1B_uc009zts.1_Frame_Shift_Del_p.G87fs|ANKS1B_uc001tgm.1_Frame_Shift_Del_p.G87fs	p.G861fs	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	16	3000	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	861			SAM 1.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Frame_Shift_Del	DEL	ENST00000547776.2	37	c.2583delG	CCDS55872.1																																																																																				0.388	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		8	35	NA	NA	NA	NA	8	35	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44918568	44918568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:44918568delC	ENST00000261866.7	-	11	2221	c.2205delG	c.(2203-2205)aagfs	p.K735fs	SPG11_ENST00000535302.2_Frame_Shift_Del_p.K735fs|SPG11_ENST00000558319.1_Frame_Shift_Del_p.K735fs|SPG11_ENST00000427534.2_Frame_Shift_Del_p.K735fs|SPG11_ENST00000559193.1_Frame_Shift_Del_p.K735fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	735					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTATATTGTTCTTTTTTAAAT	0.313																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(2203-2205)AAGfs		spatacsin isoform 1							75.0	83.0	80.0					15																	44918568		2197	4298	6495	SO:0001589	frameshift_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44918568delC		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2205delG	15.37:g.44918568delC	ENSP00000261866:p.Lys735fs					SPG11_uc010ueh.1_Frame_Shift_Del_p.K735fs|SPG11_uc010uei.1_Frame_Shift_Del_p.K735fs|SPG11_uc001zua.1_Frame_Shift_Del_p.K735fs	p.K735fs	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	11	2236	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	735			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Frame_Shift_Del	DEL	ENST00000261866.7	37	c.2205delG	CCDS10112.1																																																																																				0.313	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			7	202	NA	NA	NA	NA	7	202	---	---	---	---
MNS1	55329	broad.mit.edu	37	15	56756290	56756291	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:56756290_56756291delGC	ENST00000260453.3	-	2	322_323	c.158_159delGC	c.(157-159)cgcfs	p.R53fs		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	53					cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.R53H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		GAAATTGCTTGCGCTGAACACG	0.327																																						uc002adr.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(157-159)CGCfs		meiosis-specific nuclear structural 1																																				SO:0001589	frameshift_variant	55329				meiosis			g.chr15:56756290_56756291delGC	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.158_159delGC	15.37:g.56756292_56756293delGC	ENSP00000260453:p.Arg53fs					MNS1_uc010bfo.2_5'UTR	p.R53fs	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	2	323_324	-			53			Potential.		Q8IYT6|Q9NUP4	Frame_Shift_Del	DEL	ENST00000260453.3	37	c.158_159delGC	CCDS10158.1																																																																																				0.327	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		83	112	NA	NA	NA	NA	83	112	---	---	---	---
TIPIN	54962	broad.mit.edu	37	15	66645208	66645209	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:66645208_66645209delGA	ENST00000261881.4	-	2	162_163	c.77_78delTC	c.(76-78)ttcfs	p.F26fs	TIPIN_ENST00000367709.4_5'UTR	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	26					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CTGGAGGTGGGAAAGGAGGAAA	0.455																																						uc002apr.2		NA																	0				ovary(1)	1						c.(76-78)TTCfs		TIMELESS interacting protein																																				SO:0001589	frameshift_variant	54962				cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding	g.chr15:66645208_66645209delGA	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.77_78delTC	15.37:g.66645208_66645209delGA	ENSP00000261881:p.Phe26fs					TIPIN_uc010ujn.1_5'Flank|TIPIN_uc010ujo.1_5'UTR	p.F26fs	NM_017858	NP_060328	Q9BVW5	TIPIN_HUMAN			2	163_164	-			26					B2CW64|Q9NWZ6	Frame_Shift_Del	DEL	ENST00000261881.4	37	c.77_78delTC	CCDS10215.1																																																																																				0.455	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		42	72	NA	NA	NA	NA	42	72	---	---	---	---
KRT39	390792	broad.mit.edu	37	17	39114919	39114933	+	In_Frame_Del	DEL	ATCCTTAATCTCCTT	ATCCTTAATCTCCTT	-	rs571586115		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39114919_39114933delATCCTTAATCTCCTT	ENST00000355612.2	-	7	1431_1445	c.1396_1410delAAGGAGATTAAGGAT	c.(1396-1410)aaggagattaaggatdel	p.KEIKD466del	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	466	Tail.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TGACCTTCCCATCCTTAATCTCCTTGGTGATGGTG	0.498																																						uc002hvo.1		NA																	0					0						c.(1396-1410)AAGGAGATTAAGGATdel		type I hair keratin KA35																																				SO:0001651	inframe_deletion	390792					intermediate filament	structural molecule activity	g.chr17:39114919_39114933delATCCTTAATCTCCTT	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1396_1410delAAGGAGATTAAGGAT	17.37:g.39114919_39114933delATCCTTAATCTCCTT	ENSP00000347823:p.Lys466_Asp470del					KRT39_uc010wfm.1_In_Frame_Del_p.KEIKD199del	p.KEIKD466del	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			7	1432_1446	-		Breast(137;0.00043)|Ovarian(249;0.15)	466_470			Tail.		B2RXK6|Q6IFU6	In_Frame_Del	DEL	ENST00000355612.2	37	c.1396_1410delAAGGAGATTAAGGAT	CCDS11382.1																																																																																				0.498	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		40	98	NA	NA	NA	NA	40	98	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47376030	47376030	+	Splice_Site	DEL	C	C	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:47376030delC	ENST00000285039.7	-	32	4521	c.4222delG	c.(4222-4224)gac>ac	p.D1408fs	MYO5B_ENST00000592688.1_5'UTR|MYO5B_ENST00000324581.6_Splice_Site_p.D523fs|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1408					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTTTAAGGTCCTGGAAGCAG	0.507																																						uc002leb.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(4222-4224)GACfs		myosin VB							167.0	161.0	163.0					18																	47376030		1955	4149	6104	SO:0001630	splice_region_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47376030delC	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4222-1G>-	18.37:g.47376030delC						MYO5B_uc002ldz.2_5'UTR|MYO5B_uc002lea.2_Frame_Shift_Del_p.D523fs	p.D1408fs	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	32	4510	-			1408			Potential.		B0I1R3|Q0P656|Q9H6Y6	Frame_Shift_Del	DEL	ENST00000285039.7	37	c.4222delG	CCDS42436.1																																																																																				0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		Frame_Shift_Del	28	114	NA	NA	NA	NA	28	114	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230643188	230643198	+	Frame_Shift_Del	DEL	TAAGAAGCGAA	TAAGAAGCGAA	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:230643188_230643198delTAAGAAGCGAA	ENST00000283943.5	-	35	5268_5278	c.5090_5100delTTCGCTTCTTA	c.(5089-5100)tttcgcttcttafs	p.FRFL1697fs	TRIP12_ENST00000389044.4_Frame_Shift_Del_p.FRFL1745fs|TRIP12_ENST00000389045.3_Frame_Shift_Del_p.FRFL1427fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1697					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTAATTTTCCTAAGAAGCGAAACTTCATCTT	0.427																																						uc002vpw.1		NA																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(5089-5100)TTTCGCTTCTTAfs		thyroid hormone receptor interactor 12																																				SO:0001589	frameshift_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230643188_230643198delTAAGAAGCGAA	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5090_5100delTTCGCTTCTTA	2.37:g.230643188_230643198delTAAGAAGCGAA	ENSP00000283943:p.Phe1697fs					TRIP12_uc002vpx.1_Frame_Shift_Del_p.F1745fs|TRIP12_uc002vpy.1_Frame_Shift_Del_p.F1427fs	p.F1697fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	35	5199_5209	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1697_1700					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Del	DEL	ENST00000283943.5	37	c.5090_5100delTTCGCTTCTTA	CCDS33391.1																																																																																				0.427	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		12	115	NA	NA	NA	NA	12	115	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121695040	121695041	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:121695040_121695041insAT	ENST00000393386.2	+	27	6838_6839	c.6427_6428insAT	c.(6427-6429)aatfs	p.N2143fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Ins_p.N1276fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2143	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAGCCTATAAATTGTGAGAGC	0.332																																						uc003vjy.2		NA																	0		p.C2143F(1)		ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(6427-6429)AATfs		protein tyrosine phosphatase, receptor-type,																																				SO:0001589	frameshift_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121695040_121695041insAT	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6428_6429dupAT	7.37:g.121695041_121695042dupAT	ENSP00000377047:p.Asn2143fs					PTPRZ1_uc003vjz.2_Frame_Shift_Ins_p.N1276fs|PTPRZ1_uc011knt.1_Frame_Shift_Ins_p.N733fs	p.N2143fs	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			27	6822_6823	+			2143			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A4D0W5|C9JFM0|O76043|Q9UDR6	Frame_Shift_Ins	INS	ENST00000393386.2	37	c.6427_6428insAT	CCDS34740.1																																																																																				0.332	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		42	103	NA	NA	NA	NA	42	103	---	---	---	---
